Mitochondria Role In Eukaryotic Cells

Mitochondria In The Cytoplasm Of Eukaryotic
Mitochondria are organelles found in the cytoplasm of eukaryotic cells and play a crucial role in the respiration of the cell (Bandelt et al, 2006).
Mitochondria are thought to have originated as free–living bacteria that parasited proto–eukaryotic cells~1.5 billion years ago and have since remained
in an endosymbiotic relationship inside eukaryotic cells (Margulis, 1981). The mitochondria preserve remnants of the original bacterial genome coding
for key aspects of the mitochondrial machinery, but over the course of evolution, most mitochondrial genes have been transferred to the nucleus. The
extent of these nuclear insertions was estimated to represent at least 400,000 base pairs (bp) in the human genome (Qu, Ma, & Li, 2008). The number of
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Sequencing of entire molecules represents the ultimate approach to acquire information from the maternally inherited mitochondrial genome. With this
approach in the past few years, more and more data have been obtained for reconstructing the world mitochondrial DNA (mtDNA) phylogeny and for
discerning the phylogenetic status of the (sub)continentally specific haplogroups (Qing–Peng et al., 2006). A well–reconstructed phylogeny helps to
gain unique and valuable insights for elucidating human evolution and pioneer settlement patterns; for instance, complete mtDNA sequence data
indicate that our ancestors adopted a single route to leave Africa and then migrated rapidly along the Asian coast (Qing–Peng et al., 2006).
Group–specific genetic variation allows all human mtDNA genomes to be grouped into distinct clusters called haplogroups based on diagnostic
nucleotide polymorphisms. Each haplogroup can be identified based upon the sum of control and coding region variation compared to the established
Cambridge Reference Sequence (rCRS; Figure 1b) (Kim et al., 2013). The coding region variation is diagnostic for most haplogroups (Torroni et al.,
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Single Nucleotide Polymorphisms
The problem being investigated in this experiment is if scientists can use single nucleotide polymorphisms found in a person's DNA in order to
determine or predict someone's face. This potential discovery would be revolutionary in the crime–solving industry and would allow us to get a
glimpse of the faces of those guilty of crimes, ancestral people from before photography, and even children yet to be born in a mother's womb. The
main objective of this article was to inform and educate the readers on the incredible world of appearance prediction and the untapped potential that lies
within it, with its roots linked directly to the nucleotides in an individual's DNA. The article discusses an unknown man, "the Serial Creeper", guilty of
sexually ... Show more content on Helpwriting.net ...
On the other hand, thousands upon thousands were responsible for traits such as height. It was also rather interesting to hear police regard using genetics
to help a crime case "less–conventional". Solving crimes through genetics may sound unconventional right now, but in a few decades, it may be as
simple as inserting a suspect's DNA into a HIrisPlex machine and getting a near actuality sketch down to the exact measurements in return,
essentially solving the case. Furthermore, having the ability to see what a child looks like before birth reminds me to an extent of the movie
Gattaca, in the sense of knowing the genetic information, traits, and characteristics of a child before they were even born. With the way our society
has grown today, it almost certainly feels like there would be a moral issue, as there would surely be a number of people who would not want to
know exactly what their child might physically grow into one day. This, along with the numerous other challenges and complications that come with
genetics, are undeniably hurdles that will need to be cleared in order to make appearance prediction a useful tool that can be relied on by the world in
the future. However, the evolution of technology has already come leaps and bounds over the last decade, and particularly with

Genome Sequencing Of A Plant
Genome sequencing of a plant creates a genomic resource for the plant with the help of which further studies can be conducted on it. But this kind
of a comprehensive resource is only available for a few species. The plants that are recently making their presence felt internationally lack this kind
of a resource despite having numerous health benefits. A valid collection of genome wide screening markers can add to the genomic resource for
such plants. One such crop is Stevia rebaudiana, belonging to the genus Stevia of the sunflower family (Asteraceae), commonly known as Stevia,
Sweet Leaf, Sweet herb of Paraguay, Honey Leaf and Candy Leaf (Madan et al., 2010). Although it is native to Paraguay, it is now successfully being
cultivated throughout the world as an important exotic crop. It is widely grown for its sweet leaves, the source of sweetener products known to contain
4–15% of steviosides which are estimated to be 100–300 times sweeter than sucrose (Mondaca et al. 2012; Ishima and Katayama, 1976; Tanaka, 1982;
Raji Akintunde Abdullateef and Mohamad Osman, 2012). Being a zero calorie sweetener it is finding wide market as it is safer and healthier since
calories can lead to obesity, a risk factor for some chronic diseases such as diabetes mellitus, hypertension, cardiovascular diseases, etc(Savita, Sheela,
Sunanda, Shankar, & Ramakrishna, 2004). Research also shows its effect on decrease in fertility of male rats (Melis 1999) and adult female rats of
proven fertility

Genetic Diversity Paper
What is Genetics Diversity? Genetic diversity in a population is the genetic variability in the genotype of species. It serves as a way for a population
to adapt to an evolving environment because more variation allows species to survive in natural selection ("Introduction To Genetic Diversity," n.d.).
This can be assessed in various ways such as counting the allele frequency per loci, using chi–square to analyze "the differences among loci and
breed," testing for "Hardy–Weinberg Equilibrium" between gene and genotype frequencies and calculating the average heterozygosity ("Measuring
Genetic Diversity," 2011, p23–25). Also, measuring the nucleotide diversity in a population is not only another way of assessing genetic diversity but it
allows researchers to determine the causative... Show more content on Helpwriting.net ...
By comparing the single–nucleotide polymorphisms(SNPs) and examining the genetic sequence within a population, researchers can determine if the
genetic diversity is caused by natural selection or mutation (Kawabe et al., 2014). As mentioned above, genetic diversity is caused by many factors
such as mutations, natural selection, genetic drift and migration (PCG–Denver, 2006). Mutations change the nucleotides in DNA sequence through
radiation, chemicals or error during DNA replication while natural selection allows organisms with the fitted allele to survive and spread ("What is
Genetic Diversity?" n.d.). In addition, genetic drift changes the gene of a population over time which may lead to loss of beneficial genes and
migration enhances gene flow as genes are transferred among populations (Star, B. & Spencer, H. G., 2013). Thus, genetic diversity may be
detrimental or beneficial, but it is important for its occurrence because it helps regulate the lifespan of a population by providing gene resistance to
diseases and environmental pressures ("What

MTHFR Genetic Analysis
There are a ton of reasons for one to be diagnosed with schizophrenia. Schizophrenia is a long–term mental disorder of a type involving a breakdown in
the relation between thought, emotion, and behavior, leading to faulty perception, inappropriate actions and feelings, withdrawal from reality and
personal relationships into fantasy and delusion, and a sense of mental fragmentation. Schizophrenia can be hereditary in some cases but in most it has
been known to be environmental. One cause liked to schizophrenia is low levels of folate acid and defective folate metabolism which mean the
MTHFR gene mutation can lead to schizophrenia in some cases. MTHFR gene is situated toward the end of the short arm of chromosome 1. The
protein assumes a focal part in folate digestion by irreversibly changing over 5, 10–methylenetetrahydrofolate (5, 10–MTHF) to 5–MTHF, the prevalent
coursing type of folate. 5–MTHF assumes a critical part in one–carbon digestion and DNA methylation. It gives a methyl gathering to homocysteine in
the era of S–adenosylmethionine, a noteworthy wellspring of methyl gatherings in the brain. Also, homocysteine and its metabolites may have a direct
excitotoxic impact on the N–methyl–D–aspartate (NMDA) glutamate receptors in the mind and may repress methylation forms in the nervous system;
thusly, its change is ... Show more content on Helpwriting.net ...
This polymorphism is practical and brings about lessened chemical movement. This single amino acid substitution brings about impeded Flavin adenine
dinucleotide (FAD) authoritative, prompting loss of folate coming about, in its turn, in diminished action of MTHFR. For the C677T polymorphism,
homozygote variations have 30% compound action in correlation with homozygote for the wild–sort C allele, while heterozygote holds 65% of
wild–sort MTHFR chemical

Acute Lymphoblastic Leukemia ( All )
Acute lymphoblastic leukemia (ALL), a malignant disorder of lymphoid progenitor cells, is the most common hematological malignancy affects
children, accounting for 25–30% of all childhood cancers with peak prevalence between the ages of 2 and 5 years [1]. The causes of pediatric acute
leukemias are still not well known, the identification of causes and prevention/early intervention is clearly a worthwhile goal [2]. Previous studies have
demonstrated that the interaction between genetic background, lifestyle, and these environmental factors play a critical role in the development of
ALL in children [3]. MicroRNAs are a class of small (17–25 nucleotides) single–stranded noncoding RNAs that function as a sequence–targeted
modifiers of gene expression through translational repression [4]. The miRNAs are important key regulators of normal hematopoiesis and their
disruption could lead to leukemogenesis [5]. Mutations like single–nucleotide polymorphisms located in microRNA binding sites can cause disruption
in microRNA–target interactions, leading to deregulation of the target gene expression [6]. One of these SNPs is the one found within the miR–502
binding site in the 3вЂІ–UTR of the SET8 gene. SET8 (also known as PR–SET7; located on chromosome 12q24.31) encodes a histone
H4–Lys–20–specific methyltransferase which plays an important role in cell cycle–dependent transcriptional silencing and mitotic regulation [7].
There are about 129 variants of the SET8 gene

Minisatellites Essay
Minisatellites
Along with the development of the PCR, a new type of polymorphism of DNA was discovered in the DNA structure known as hypervariable
minisatellites. Large proportion of the eukaryotes genomes is consists of non–coding DNA. Usually, this non–coding region carries some regulatory
elements such as promoters and enhancers but in many cases it also contains repetitive elements, e.g. multiple repeats (Turner et al., 1998). These
repetitions include satellite DNA, which comprises thousands of tandem repeats in one site, as well as minisatellite and microsatellite DNA, depending
on the number of repeats (Vanhala et al., 1998). These minisatellites are defined regions of DNA with polymorphisms in the number of repeated
nucleotide ... Show more content on Helpwriting.net ...
Typically they may be dinucleotides (AC)n, (AG)n, (AT)n; trinucleotides (TCT)n, (TTG)n; tetranucleotides (TATG)n and so on, where n is the number
of repeating units within the microsatellite locus. In addition to occurring at many different loci, they can also be polyallelic (Selkoe and Toonen,
2006). They are repeated (usually 5–20 times) in the genome with a minimum repeat length of 12 base–pairs (Goodfellow, 1992). Liu et al., 2001c
profound that the best known examples of microsatellites within coding regions are those causing genetic diseases in humans, such as the CAG repeats
that encode polyglutamine tract, resulting in mental retardation. Microsatellites tend to mutate with mutation rates of up to 10–2 per generation
(Bruford and Wayne, 1993). Variation in the number of tandemly repeated units is mainly due to strand slippage during DNA replication where the
repeats allow matching via excision or addition of repeats (Schlotterer and Tautz, 1992). As slippage in replication is more likely than point mutations,
microsatellite loci tend to be hypervariable. Microsatellite assays show extensive inter–individual length polymorphisms during PCR analysis of unique
loci using discriminatory primers sets. Microsatellites are inherited in a Mendelian fashion as codominant markers (Schlotterer, 2004). This is strength
of microsatellite markers in addition to their

Genetic Identity Of The Individual
Genetic Identity of the Individual Individuality is the quality or character of a particular subject that distinguishes that subject from others of the same
kind. Every individual searches for and cherishes their individuality, their identity, their unique role in the world. Humans are some of the most socially
and psychologically complex organisms in the world; global diversity and individual uniqueness are a product of that complexity. Professional
sociologists have long debated the power of the world around us to shape our perception and thought process, thus playing a role in the individual's
world view and responses. Frida Kahlo visually represented the influence of the environment on the individual with her painting, Self Portrait Between
the Borderline of Mexico and the United States, 1932, depicting two very different worlds of Mexico and the United States, while also conveying her
dismay at the American influence that at the time was supplanting her traditional Mexican heritage (Kahlo). This illustrates the impacts of a cultural
environment on an individual and their sense of identity. However, the creation of an individual is far more than a conglomeration of outside
influences, as environmentalist theory believes. Everyone is born with a unique set of genetic traits that cause one to look, think, and act different from
others. The question that follows is how influential is genetic identity in the development of the individual? Individuality is the result

A Study On Low K13 Mutation Profile
Low K13 mutation profile, after introduction of Artemether–Lumefantrine, in Msambweni coastal region, Kenya.
Reuben Mwikiio kinyanzwii 1 3*, Francis .T. Kimani 3, Laura Wangai 2 Eric Lelo 3 Edwin Too 3, Denis Mwaniki.1
1 Institute of Tropical Medicine and Infectious Diseases (ITROMID), Nairobi, Kenya, 2 School of Health Sciences, Kirinyaga University College
(Constituent College of JKUAT), Kerugoya, Kenya, 3 Kenya Medical Research Institute, Centre for Biotechnology Research and Development
(KEMRI, CBRD), Nairobi, Kenya.
Corresponding Author: Reuben Mwikiio Kinyanzwii* reubenkinyanzwii@gmail.com
Abstract
Introduction: Worldwide emergence and spread of antimalarial resistance has led to use of molecular markers in monitoring of resistant plasmodium
parasite. Single nucleotide polymorphisms in the K13 propellor domain have been recently associated with artemisinin resistance. This study aims at
profiling K13 molecular markers related to reduced susceptibility to Artemether–Lumefantrine in parasite isolates from Msambweni coastal region,
Kenya. Methods: Chelex method was used for extracting DNA from Plasmodium falciparum positive dried blood spots on filter paper samples.
Polymerase chain reaction and sequencing technique was used to detect single nucleotide polymorphism in K13 propeller gene. MEGA 6 was used to
identify specific SNP combinations using wild–type reference sequence (XM_001350122).
Results: A total 150 samples were collected frommalaria infected patients in

Single Nucleotide Polymorphisms Essay
Genome wide association studies (GWAS) have identified many genetic variants that may be associated with genetic disease, most of which lie in
non–coding regulatory elements. As only ~1% of human genes are protein coding, it may hardly be surprising that so many of these implicated features
are found within non–coding regions. The task we must face now is to assess the impact and prevalence of each of these variants which may lead to
breakthroughs in how disease genes are localised and mapped in different individuals and populations.
GWAS is a powerful tool for identifying trends between variants, such as Single Nucleotide Polymorphisms (SNPs), and phenotypes, such as genetic
disease. By analysing the DNA of thousands of people using ... Show more content on Helpwriting.net ...
Detecting patterns of mutually conserved regions may indicate regulatory elements that interact with one another to alter the expression of genomic
regions. These patterns may indicate combinatorial effects, whereby the contribution of multiple elements and their binding sites act as a system to
regulate distant features.
The analysis of populations and gene ancestry, is used to identify wild–type alleles and use these to determine the relative abundance and effect of
variant sequences within mutant alleles, that may confer deleterious effects on the individual. Once we have identified the disadvantageous variants
and the wild–type sequence they have mutated from, we can direct the genome editing tools at our disposal to disrupt these regulatory sequences or
substitute less deleterious bases.
With the information we have gathered from sequencing the human genome and building databases of individuals' genomes, we create libraries of
genes and their products and regulators. Much of the regulation of gene expression discovered has been attributed to non–protein coding genes that may
affect transcriptional machinery–binding or that are transcribed into RNA sequences that regulate the translation of target RNA sequences. The latter is
known as RNA interference (RNAi) and uses smaller, micro RNA sequences, to promote the degradation of target RNA sequences or inhibit their
translation. RNAi actually

Societal Impacts Of Genetic Study Of Intelligence
SOCIETAL IMPACTS OF GENETIC STUDY OF INTELLIGENCE: Throughout history racism has been centered on phenotypic differences between
races such as skin color. Also, there was a multitude of false information that was created by racism, for example, the claim that certain races have the
predisposition to be less intelligent than others. In 1994, Richard J. Herrnstein and Charles Murray published The Bell Curve: Intelligence and Class
Structure in American Life. This controversial bestseller differences between races and classes were the result of differences in inherited intelligence
which could not be changed. This has caused many people in the scientific community to question if the study of intelligence can remain societally
neutral. Roberts... Show more content on Helpwriting.net ...
These study methods allow researchers to look for similarities and differences within the genome of individuals of different intelligence levels. Using
single nucleotide polymorphism testing, researchers are able to look at single base pairs within the genome and make comparisons within a population.
With the technology that has developed in the last few decades, the study of intelligence has become much more complex and in depth which has
allowed geneticists to see trends that they have not seen before. POLYGENIC: With the new genetic study technologies of the twenty first century,
researchers are able to conduct genome–wide analysis studies as well as single nucleotide polymorphism studies which can be used to determine which
genes, if any, code for intelligence. A study by Benyamin et al. (2014) used single nucleotide polymorphism testing to compare the genomes of 17,989
children. The authors looked for genes in which children of similar intelligence shared many single nucleotide polymorphisms. However, the authors
did not find any single nucleotide polymorphisms that reached a genome–wide significance value. Thus, the authors concluded that this result points to
intelligence being the result of the aggregate effect of many genes within the genome and not just one specific "mother gene". However, while

Essay On HSP
The HSP is a group of highly conserved proteins that are induced in both prokaryotes and eukaryotes by elevated temperatures or a variety of
cellular stresses (Ross et al., 2003). When heat shocked to animal, the cells reduce their overall rates of gene transcription, RNA processing and
translation, alter the activity of expressed proteins and, for a short period of time, increase expression of HSP. HSP are traditionally classified by
their molecular weight and the best understood are in the 110, 90, 70 and 60 kDa classes (Prohaszka and Fust, 2004). These вЂћmajorвЂџ HSP are
constitutively expressed at 37 ВєC in the absence of heat stress. The second group comprises вЂћminorвЂџ HSP that are induced by glucose
deprivation and include... Show more content on Helpwriting.net ...
Single nucleotide polymorphisms (SNPs) in the coding region of HSP70 genes could affect peptide–binding kinetics or affinity of the HSP70 proteins
and ATPase activity, while nucleotide changes in the flanking regions (promoter and 5в
ЂІ, 3вЂІ–untranslated region (UTR) might affect inducibility,
degree of expression or stability of HSP70 mRNA. In addition, variation in HSP70 gene expression and polymorphisms has been positively
correlated with variation in thermotolerance in different species viz. Drosophila melanogaster, Caenorhabditis elegans, rodents and humans (Hashmi
et al., 1997; Maloyan and Horowitz 2002; Sonna et al., 2002; Gong and Golic, 2004). In farm animals, some studies have reported possible
associations of SNP in the HSP70 genes with stress response and tolerance to heat. In beef cattle, 10 SNPs in the promoter region of the bovine
HSP70.1 gene were identified and they were associated with weaning weights and pregnancy (Banks et al., 2007; Starkey et al., 2007). On the other
hand, there are only two polymorphisms identified in the 3вЂџ UTR of bovine HSP70.1 gene in dairy cattle (Grosz et al., 1994; Adamowicz et al.,
2005) but the association between HSP70 gene polymorphism and production traits or thermotolerance was not studied. (Cheng et al., 2009) reported a
genetic polymorphism of HSP70.1 gene and its association with resistance to mastitis in Chinese Holstein. HSPs act as molecular

Idiopathic Epilepsy Phenotypes
Epilepsy is one of the most common chronic neurological disorders affecting about 50 million people worldwide (Leach and Abassi., 2013). The
incidence of epilepsy in childhood is more than twice that in the adult population (Salomon JA et al., 2012). Majority of epilepsy phenotypes result
from interaction between genes and environmental factors. Only 1–2% idiopathic epilepsies seem to be monogenic; whereas most of them are believed
to be polygenic (Weber YG et al., 2008). More recently copy number variation and whole exome sequencing studies on larger populations have
provided modern added evidence for the role of genetics in epilepsy (Mefford HC .,2014).Whereas the role of genetic factors in idiopathic epilepsies
has long been suspected, the role of these factors in cryptogenic and symptomatic epilepsies has been demonstrated in a number of other studies
(Peljto AL et al., 2014). It is now thought that genetic factors account for about 40% of the etiologic causes of epilepsy (Guerrini R and Noebels J.,
2014).... Show more content on Helpwriting.net ...
Inherited forms of idiopathic epilepsies indicate that ''channelopathies'' represent frequent functional pathways of paroxysmal network synchronization
and epileptogenesis (Bockenhauer D et al., 2009). Оі Amino butyric acid (GABA) is the most important inhibitory neurotransmitter in the brain.
Structurally Gama amino butyric acid (GABAA) receptors are pentameric chloride ion channels formed from various combinations of proteins encoded
by subunit gene families. The О±1ОІ2 Оі2 subunit combination of GABAA receptor is most abundant in almost all regions of the brain (Reid et
al.,2009).Mutations in the О±1subunit have been identified in patients suffering from early infantile epileptic encephalopathy, juvenile myoclonic
epilepsy, and other types of seizures disorders (Carvill et al.,

Phenythiocarbamide
PTC tasting study: a Mendelian trait
FIU genetics lab (BBC)
By: Jordy Alfonso Abstract
Phenythiocarbamide (PTC) is a molecule that binds to the taste receptors in mammals, conveying different response to bitterness taste. There have been
many arguments on whether bitter tasting phenotype is a Mendelian inherited trait (one gene two alleles) with tasters being dominant for the trait and
non tasters being recessive ,or a product of ongoing polyphonic expressions. For the following study we provide evidence for TAS2R38 as a bipedal
Mendelian inherited trait, and present a human genetic model for single nucleotide polymorphism (SNP) genotyping. Since the ability to taste PTC is
dependant on an individual's genetic code, we extracted and amplified ... Show more content on Helpwriting.net ...
This allowed us to sequence an informative region of the TAS2R38. Restriction fragment length polymorphisms were created using the restriction
enzyme HaeIII. Gel electrophoresis of the amplified and cut DNA segments provided us with a genotype associated with each phenotype. Introduction
Since 1931, the accidental discovery of PTC has led to one of the greatest scientific debate of all time. Arthur Fox prepared a sample of PTC to do an
experiment, meanwhile some of his colleagues complained of the bitter taste of substance in the air. Fox himself could not taste taste the substance in
the air and decided to directly taste the substance. An argument arose, as he still could not taste or feel anything and more of Fox's co workers were
brought in to settle the argument. The result was that some individuals could taste PTC while others could

Genetic Manipulation And Its Effects On Humans
Genetic manipulation is a powerful tool that allows humans to selectively modify organisms. It provides the ability for humans to deliberately
manipulate an organism 's' genes in order to produce desirable traits. Genetic manipulation provides the ability for humans to decide which phenotypes
to express, and which to eliminate. This typically starts with an individual organism, then goes onto eventually effect and entire species or breed. One
way humans genetically modify organisms is through a process called selective breeding. Humans have been selectively breeding for hundreds, if not
thousands of years. Dogs specifically have now become "designer animals" that have been moulded to fit the desired aesthetic needs, and other times so
... Show more content on Helpwriting.net ...
In order for breeders to have offspring that possess the desired traits more often, and for the purpose of genetic improvement, when using SNP chips
the positive results can seen to be doubled. – https://breedingbusiness.com/breeding–pugs–introduction/ https://en.wikipedia.org/wiki/Pug http:/
/articles.extension.org/pages/61786/use–of–single–nucleotide–polymorphisms–for–whole–genome–selection–in–cattle The pug is a brachycephalic
breed of dog that has been selectively bred for aesthetic purposes, the highly desirable double curl tail is a genetic defect and in more serious forms
leads to paralysis. Which means that the personal health issues for the breed is the first biological implication.They do however have a fairly long
lifespan, averaging between 12 and 15 years, yet due to the fact that they have been bred for extremes, many health issues are known to be associated
with the breed – as so some genetic disorders. Eye problem such as entropion, corneas and prolapse can affect these selectively bred dogs. They are
also highly prone to being affected by hip dysplasia. Demodectic mange, necrotizing meningoencephalitis, hemivertebrae and breathing issues are other
problems that have been known to affect the breed. Genetic disorders can include degenerative

Sickle Cell Anemia Essay
I was born like this, since one like this Immaculate Conception. I transform like this, perform like this, was Yeshua's new weapon." are just a sample
of the lyrical genius Kendrick Lamar depicts in his new hit, DNA. The greatest thing about that line is it maximizes the personification of sickle cell
anemia. An inherited disease that one is born with and passed down through generations by means genetic recombination almost immaculately as the
odds of receiving it are against you. Red blood cells in a sense transform from oval to crescent moon shaped being the basis of the performance in
Yeshua's weapon of death. I think Kendrick hit the nail on the head with this one.
The only premise I questioned was how recent is this weapon. That depends ... Show more content on Helpwriting.net ...
People with sickle cell trait are heterozygotes for the mutated hemoglobin S gene. This means that they are only carries of the disease as half of
their red blood cells are perfectly normally. Malaria is a blood disease caused by the Plasmodium parasites transmitted by Anophele mosquitos.
These parasites swarm to red blood cells as their source of nutrients in order to reproduce. Individuals with sickle cell trait hold a selective
advantage, as 50% of red blood cells are sickle shaped. This makes it more challenging for Plasmodium to infect and reproduce. Individuals with
sickle cell trait also live with the sickle cell disease without experiencing any of the symptoms of the disease. Areas with the highest cases of malaria
usually have the highest cases of sickle cell disease, which explains why regions of Africa suffocate the most from both illnesses.
The prevalence of sickle cell disease in the US is falling. This is contributed to low malaria rates as sickle cell disease is disadvantageous and is
declining due to natural selection. There is also decreased endogamy in the United States compared to African countries, which plays a role in the trend
of falling sickle cell diseased

Red Blood Cell Is An Essential Treatment For Patients With...
Red Blood Cell (RBC) transfusion is an essential treatment for patients with the Sickle Cell Disease (SCD). Alloimmunization to RBC antigens has
remained a challenge due to the difference in antigen prevalence, such as in the case of people of African origin and those of white descendent do not
have a similar antigen prevalence. The presence of RH heterogeneity leads to alteration of the representation of the Rh antigen on a patient 's RBC
hence increasing chances of alloimmunization. To be able to counter this, methods such as pre–transfusion determination of extended Rh (CcEe) and K
antigen phenotypes and RBC phenotyping by hemagglutination have been attempted. RBC phenotyping by hemagglutination has been the gold
standard, but is labor–intensive and hindered by subjectivity in interpreting agglutination reactions and transcription errors when manually transcribing
results. Testing is also limited by lack of reagents for a number of clinically significant antigens.
10 DNA–based assays targeting single–nucleotide polymorphisms (SNPs) associated with blood group antigen expression offer an alternative. 11–14
Genotyping method provide information on RBC antigens for which standardized serologic typing reagents are not available and are responsive to
high–throughput testing with computerized interpretation. RBC antigen phenotypes determined by single–nucleotide polymorphism analysis was
compared with serologic testing for 13 routinely tested RBC antigens. The frequency of

Outline Of The AFLP Procedure (RFLP)
Figure 7. Outline of the AFLP procedure (Vuylsteke et al., 2007)
(2) Restriction fragment length polymorphisms (RFLP)
When utilizing PCR–RFLP, a DNA fragment is first amplified by PCR, then it is digested by a certain restriction endonuclease to generate a
restriction polymorphic profile for the test subject species (Shaw et al., 2002). PCR amplification should be highly conserved among a species so that
it can be easily amplified. Each fragment length is considered an allele, and RFLP occurs when the length of a detected fragment varies between
individuals.
(3) Random amplified polymorphic DNA (RAPD)
RAPD is effective in screening the differences in DNA sequences. The RAPD markers are also DNA fragments from PCR amplification,

Clinical Pathology Essay
Zagazig University Faculty of Medicine
Clinical Pathology Department
Association of STAT4 Gene Single–nucleotide Polymorphism with Systemic Lupus Erythematosus
Thesis Submitted for partial fulfillment of
M.D. degree in clinical pathology
By
Marwa Abd El–Monem Mohamed Ateya
MB.B.CH. Ass .lecturer of Clinical Pathology
Faculty of Medicine Zagazig University
Prof. Dr.
Lamiaa Abd Al–wahab Mohammad
Professor of Clinical Pathology
Faculty of Medicine
Zagazig University
Prof. Dr.
Asmaa Mohammad Hosny Esh
Professor of Clinical Pathology
Faculty of Medicine
Zagazig University
Prof. Dr.
Ghada Sanad Nageeb

Professor of Rheumatology & Rehabilitation Faculty of Medicine
Zagazig University
Faculty of Medicine
Zagazig University
2016
Contents
Page
List of abbreviations ....................................................... II
List of figure ................................................................. VI
List of tables ................................................ ................ VIII
Introduction .................................................................. 1
Aim of the Work ............................................................ 2
Review of Literature Systemic Lupus Erythematosus .................. ........... 3 Pathogenesis of Systemic lupus erythematosus ......... 4 Clinical
Manifestations SLE ................................... 11 Monitoring of SLE

Research Project : Using Relatedness Analyses
Research Project Description
a.Student Name: Md Manzur Rahman Farazi
b.Faculty mentor: Mehdi Maadooliat Co–Mentor: Steven J. Schrodi, Associate Research Scientist, Center for Human Genetics, Marshfield Clinic
Research Foundation
c.Project title: Using Relatedness Analyses in a Large Kinship to Identify Genes Underlying Rheumatoid Arthritis (RA)
d.Background
Introduction:
Homo sapiens are highly studied organisms by reason of abundant erratic and communal diseases such as obesity, heart disease, diabetes, and others.
Most diseases have solid transmissible components, suggesting a large role of genetic variations in the molecular pathogenesis of diseases.
Genome–wide characterization of the levels and patterns of human genetic variation has enabled geneticists to debrief this variation for association with
complex phenotypes, including common diseases.
SNPs (single nucleotide polymorphism or simple nucleotide polymorphism) are a common type of genetic variation among human being. A SNP is a
variation in a single nucleotide which may occur at some specific position in the genome, where each variation is present to some appreciable degree
(>1%) within a population (Scitable). A SNP may involve the replacement of the nucleotide in a position in theDNA molecule. In the human genome
there are approximately 10 million SNPs, once in every 300 nucleotides. These dissimilarities are found usually in the DNA amongst genes. They act
like biological indicators which help

Worksheet On Genetics
Monica Ritchie
Genetics
Block E
August 20, 2015
Chapter 1– Question Set # 1
1. An estimated ________ DNA base pairs comprise the human genome.
There are about 3.2 billion DNA base pairs.
2. Define the following:
a) genotype
A genotype is the different allele combination that an individual has that causes a particular trait or disorder. It is the alleles that are present in an
individual.
b) phenotype
A phenotype is the visible trait, the allele that is expressed.
c) allele
The different variant of a gene is an allele.
d) mutation
A mutation is when a change in the DNA sequence occurs. Some mutations cause diseases, variations, or no affect at all.
e) genome
A genome is the complete set of genetic instructions of an organism.

Gene, Tolerated ), And ID ) Of The IDUA Gene
Dataset
The SNPs information (Protein accession number and SNP ID) of the IDUA gene was retrieved from the NCBI dbSNP (http://www.ncbi.nlm.nih.gov
/snp/). Known disease–associated mutations in IDUA gene were retrieved from The Human Gene Mutation Database (http://www.hgmd.cf.ac.uk/ac
/index.php).
SIFT
SIFT (Sorting Intolerant From Tolerant; http://sift.jcvi.org/) can predict the effect of amino acid substitution onprotein function, and classify it as
'tolerated' or 'deleterious' [15]. SIFT applies multiple alignment information for the query sequence and predicts whether substitutions are 'tolerated' or
'deleterious' by calculating the tolerance index score (0 to 1). Tolerance index score is a normalized probability that an amino acid ... Show more content
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In PROVEAN, BLAST hits with more than 75% global sequence identity are clustered together, and top 30 such clusters from a supporting sequence
are averaged within and across clusters to generate the final score. A protein variant is predicted to be 'deleterious' if the final score is below в€’2.5,
and is predicted to be 'neutral' otherwise.
PANTHER
PANTHER (http://www.pantherdb.org/) is a database which contains a collection of protein families and subfamilies that predict the occurrence of an
amino acid at a position in a family of evolutionarily related protein [19]. PANTHER uses hidden Markov model (HMM) based statistical modeling
methods and multiple sequence alignments to perform evolutionary analysis of coding nsSNPs. By calculating the substitution position–specific
evolutionary conservation score (subPSEC) based on an alignment of evolutionarily related proteins, PANTHER estimates the likelihood of a
particular nsSNP causing a functional impact. Based on subPSEC scores, PANTHER classifies SNPs as 'deleterious' (score (–– removed HTML ––)
в€’3).
SNPs&GO
SNPs&GO (Single Nucleotide Polymorphism Database & Gene Ontology; http://snps.biofold.org/snps–and–go/snps–and–go.html) is an support vector
machine (SVM) based method used to predict the disease related mutations from protein sequences with a scoring accuracy of 82% and Matthews
correlation coefficient of 0.63. For SNPs&GO, FASTA sequence of whole protein is considered to be an input

How Can Ngs Forward Research Essay
HOW CAN NGS FORWARD RESEARCH IN POLYGENIC DISEASES?By Joymariel Melecio
–ViГ±ales Recently, I was asked how Next Generation
Sequencing technology may lead to significant advances in the study of polygenic diseases. As not being Biology my area of expertise, this question
led to a lot of research. The first thing I did was to study the term polygenic, from which my first guess it was to mean "many genes" as poly– derives
from the Greek meaning "much or many" and "genic" from gene, either the production of or to be related to genes (YourDictionary, 2013). Therefore,
there was a chance of the term polygenic disease to describe a disease or illness related to a disorder in the gene or influenced by many genes.
Scientific literature defines a polygenic disease as an affliction that runs in the family, however, only a few members of the family exhibit that
phenotype (Alberts, et al., 2008). But what is a phenotype? Well, Alberts, et al. defines phenotypes as a characteristic that can be observed from an
individual or a living organism (cells). What is really interesting is that these characteristics can be either physical or behavioral (Alberts, et al., 2008)
(T, Jasuja, & Sehgal, 2016)and that these by be affected by either environmental factors or genetic disorders (Kitchen, 2010). This means that those
characteristics that define you such as your hair color, eye color, height, skin color and weight, among others, and if you are bipolar or suffer severe
anxiety, including any

Missense Mutation Essay
2. Materials and methods
2.1 Dataset
Known disease–associated mutations were retrieved from The Human Gene Mutation Database (http://www.hgmd.cf.ac.uk/ac/index.php). The benign
polymorphisms were retrieved from the NCBI dbSNP (http://www.ncbi.nlm.nih.gov/snp/) and previous literature. A variety of genes responsible for
different lysosomal diseases were analyzed in this study and listed here. IDUA, mucopolysaccharidosis type I (MPS I); IDS, MPS II; GLB1, GM1
gangliosidosis or Morquio disease, type B (MDB); HEXA, Tay–Sachs disease; HEXB, Sandhoff disease; GBA, Gaucher disease; CTNS, cystinosis;
GAA, Pompe disease; GUSB, MPS VII; SGSH, MPS IIIA; LIPA, lysosomal acid lipase deficiency.
2.2 Predicting Functional Context of Missense Mutation ... Show more content on Helpwriting.net ...
The output is the predicted free energy change (DDG), which classifies the prediction into one of three classes: 'decrease' (DDG (–– removed HTML
––) 0) [9].
PROVEAN (Protein Variation Effect Analyzer; http://provean.jcvi.org) is a sequence based predictor that estimates the impact of mutations on protein
function [10]. In PROVEAN, BLAST hits with more than 75% global sequence identity are clustered together, and top 30 such clusters from a
supporting sequence are averaged within and across clusters to generate the final score. A protein variant is predicted to be 'deleterious' if the final
score is below в€’2.5, otherwise 'neutral'.
PANTHER (http://www.pantherdb.org/) is a database that predicts the occurrence of an amino acid at a position in a family of evolutionarily related
proteins [11]. PANTHER uses hidden Markov model (HMM) based statistical modeling methods and multiple sequence alignments (MAS) to perform
evolutionary analysis of SNPs. By calculating the substitution position–specific evolutionary conservation score (subPSEC), PANTHER estimates the
likelihood of a particular amino acid substitutions causing a functional impact. Based on subPSEC scores, PANTHER classifies mutations as
'deleterious' (score (–– removed HTML ––) в€’3), with a probability score (0 to 1).
SNPs&GO (Single Nucleotide Polymorphism Database & Gene Ontology; http://snps.biofold.org/snps–and–go/snps–and–go.html) is a support vector
machine (SVM) classifier that

A Research Study On Dna
Background Research
The researcher's experiment is almost entirely based on DNA (deoxyribonucleic acid), the relatively recently discovered molecule that "forms the
molecular basis for heredity". In specific, the project to be undertaken focuses on genes, specific sections of DNA, that are responsible for
communicating to an organism "instructions for synthesizing every protein" an organism would require. In the middle of the nineteenth century, a
large amount of scientists were involved in the search for the structure of the all–important DNA molecules. The official discovery was made in the
year 1953, by James Watson, Francis Crick, and Maurice Wilkins. Prior to the discovery of DNA's structure, identified as a double helix,... Show more
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In 1990, the United States Human Genome Project was formally launched in an effort to accumulate knowledge on DNA and genes. After 11 years of
research, the sequence of the human genome, or the total DNA in a human, was published. During the project, identifying the genes was marked as a
priority, and the study of the functions and interactions of the genes received less emphasis. However, once the human genome was deemed completed,
"better understanding the complex interactions and functioning of the human genome" became the primary goal. While evolution and adaptation is
accredited to heredity, and consequently changes and mutations DNA and genetics, in the scale of a single organism genetic information must remain
unaltered for the organism to function and survive. Processes are in place to fix problems and mistakes that arise in DNA sequences. These
corrections are greatly aided by the very structure of DNA: the double helix provides two copies of genetic information. Because of this, incongruences
can be easily identified and targeted. Once identified, the faulty DNA is "removed by nucleases" and "resynthesized by a polymerase". Immediately
after, the corrected genetic information is reattached to the DNA strand.
While the helical structure of DNA had been alluded to before the official discovery in 1953, it was the definitive modeling and conclusions made by
Watson, Crick, and Wilkins that set their discoveries apart.

Genetic Viological Markers, Cytological Markers And...
Introduction
The traditional genetic analysis within populations by morphological markers, cytological markers and biochemical markers has not been very
efficient when the selection objective involves several characteristics with unfavorable genetic correlation (Schwerin et al., 1995). These complications
might include interactions between genes in the same locus (dominance) or in different loci (epitasis) or between specific genes and the environment
(genotype by environment interactions) (Drinkwater et al., 1991). Also, the important phenotypic traits like rate of survival are expressed very late in
the life to serve as useful criteria of selection (Dodds et al., 1996). To overcome this phenotype based genetic markers problem led to the... Show more
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A molecular marker may be a short DNA sequence such as a sequence surrounding a single base–pair change like single nucleotide polymorphism
(SNP) or a long one like minisatellites (Jeffreys et al., 1985) and microsatellites (Jarne and Lagoda, 1996). That leads to the development of a new
type of marker that is single nucleotide polymorphism (SNP) (He et al., 2003). However, AFLP markers are devoid of dense marker maps, so still
used for QTL mapping and genetic diversity studies in species (Nicholas, 1997; Van Haeringen et al., 2001). With time the RFLPs was replaced by
microsatellites for building genetic maps in human and animal species. Factor responsible for development of microsatellites are firstly, at a single
microsatellite locus large number of alleles are found thereby, developing a high heterozygosity values enabling to reduce the number of reference
families to be used for building the map and secondly, the possibility to perform genotypes by simple PCR followed by allele sizing on polyacrylamide
gels (Dinesh et al., 1995). Some points should be taken into consideration when using molecular markers for genetic studies. As for molecular
biologists the genotyping procedure should be simple and cheap in order to generate the vast amount of genotyping data as often necessary. From the
statistician's angle some characteristics are most important like the dominance relationships, information content, neutrality, map positions or genetic

Genetic Markers : A Genetic Marker
The future of medicine is definitely in personalized medicine, and that is completely is unattainable without genetic markers. In everyone there are
certain markers that can allow a geneticist to determine a person's medical future, certain medicines work with some genetic markers and not with
others. Many genes are linked to certain diseases and allow a geneticist to possibly prevent diseases. A genetic marker is aDNA sequence with a
known specific location on the chromosome, they can be a great indicator for genetic disorders and any other hereditary diseases. Genetic markers are
also used to identify genes whose locations are known, but still unidentified. Genetic markers may be part of a gene or have no known function.
Genetic markers ... Show more content on Helpwriting.net ...
It is a type of polymorphism and repeated sequences in intergenic regions of DNA. SSLPs are used to understand the genetic variation between two
individuals. Another type of genetic marker is Restriction Fragment Length Polymorphism (RFLP), in which restriction enzymes are used to be isolate
specific fragments of DNA, then these fragments are separated by length using gel electrophoresis. RFLP is an important tool in localizing genes for
genetic disorder, genome mapping, finding risk for disease, and paternity testing. A third type of genetic marker is Amplified Fragment Length
Polymorphism (AFLP), which is a PCR–base tool. It is used in different fields such as genetics, DNA fingerprinting, and genetic engineering. A
fourth type of genetic marker is Random Amplification of Polymorphic DNA (RAPD), it is a type of PCR but in the case of RAPD the segment
of amplified DNA would be random. It is used to trace the phylogeny of various plants and animals. A fifth type of genetic marker is Single
Nucleotide Polymorphism (SNP), it is a segment of DNA sequence in the genome. It is when a single nucleotide is changed in a genome. Most
commonly SNPs have only two alleles. A sixth type of genetic marker is Variable Number Tandem Repeat (VNTR) is located in a genome where
nucleotide sequence is arranged as tandem repeat and can be found on many

Single Nucleotide Polymorphisms And The Causes And Effects...
Differences in DNA exist between individuals every 1000–2000 bases in the form of single nucleotide polymorphisms (SNPs). SNPs are variation in a
single nucleotide that occurs in the genome. In some cases, these SNPs have little to no consequence on a gene expression. A consequence only occurs
when there is a difference in a gene expression. Sickle cell anemia is an example of a consequence of an SNPs. In the article, "Sickle Cell Anemia",
the author states the "sickle cell hemoglobin (Hb S) is formed when the amino acid valine is substituted for glutamic acid at the sixth position of the ОІ
chain; this is the result of a point mutation in the gene coding for ОІ globin synthesis" (Lonergan, 2001). Although this substitution is very simple, ...
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Wu were able to isolate genomic DNA from peripheral blood leukocytes of individuals. Wu states sickle cell anemia is the "prototype of a genetic
disease caused by a single base–pair mutation and A T transversion in the sequence encoding codon 6 of the human–globin gene" (Wu 1989).
Generally, a homozygous sickle cell anemia is when "the substitution of a single amino acid in the –globin subunit of hemoglobin results in a reduced
solubility of the deoxyhemoglobin molecule and erythrocytes assume irregular shapes" (Wu 1998). The DNA from each individual was subjected to
"25 rounds of PDR using either the sickle cell–specific primer set (H14S and BGP2) or the normal gene–specific primer set (H14A and BGP2) using
an annealing temperature" (Wu 1989). The research, Wu and his colleges conducted in 1989, has improved the technology of diagnosing sickle cell
anemia by exercising easily acceptable applications, requiring a small amount of DNA, and utilizing time.
Seeing that geneticists were able to analyze the characteristics of sickle cell anemia, geneticists were also able to establish the causation of severe
variation between sickle cell anemia. On chromosome 11 near the –globin gene, there are clusters of several other globin genes located on chromosome
11. These –globin clusters contain a variable amount of DNA, which are referred to as haplotypes. A haplotype is a combination of DNA markers on
a particular chromosome and is a form of a SNPs. Only

Genetics: The Catechol-O-methyltransferase (COMT) Gene Essay
In the field of genetics, the study of the effect of various genes is imperative in translation and interpretation. As genetic coding influences phenotypic
expression, the analysis of specific genes and any polymorphisms are relevant in a clinical setting. One such example is that of personality traits, which
are believed to be influenced by specific neurotransmitters, known as catecholamines. Catecholamines are chemicals released by the adrenal glands in
response to stress, and operate dually as hormones and neurotransmitters within the body. Commonly, catecholamines mediate functions within the
central nervous system, including those of emotional responses and motor control. Inclusive of dopamine, epinephrine and norepinephrine, the... Show
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Val158Met (G/A), the next possible genotype, is the result of this valine to methionine mutation and individuals with this polymorphism commonly
express a relatively more introverted personality type than those with the Val158Val COMT variation. The final possible genotypic expression,
Met158Met (G/G), has a further decreased level of enzyme activity and is thought to increase the susceptibility to a variety of psychiatric conditions
(reference). These polymorphisms and the resulting phenotypic expressions have been investigated in the scientific world due to their relevance in
modern medicine. Not only do those with the methionine allele have a reduced level of extraversion, they likely have an increased risk of depression
and inclination toward other mental illnesses. One such study (Hoth, et. al), examined 486 individuals through genetic testing and a personality
assessment in order to ascertain any correlation between the gene and extraversion levels. The findings of this study showed that those who had the
methionine mutation scored substantially lower on the Neo–Five Factor Inventory (NEO–FFI). This personality assessment is a self–reported
questionnaire on the five broad factors of human personality that are thought to most indicate individual differences– Openness, Conscientiousness,
Extraversion, Agreeableness and Neuroticism. In order to test for specific genetic mutations in an individual, such as the Val158Met variation, the
COMT gene itself needs to be

Genome And Genetic Variation: Summary
Weekly Summary on Genome and Genetic Variation
The concept of the genome: DNA is the code that categorizes us, however the other thing that shapes our features are genes. Genes can be defined
as a unit of heredity that is transported from parent to offspring that is rooted in our DNA. The biggest chromosome of the 23 is labeled as
chromosome 1. This chromosome, beside the rest, has arms and on the long arm of chromosome 1, is found a code. This code contains 120 letters of
the 4 genomes A, C, G, and T written in a section from a singlegene. What makes this gene so important is that it is continually being copied into the
RNA while RNA goes out and translatesDNA into Proteins. What is then seen is an amazing system within human bodies ... Show more content on
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Mutations in a gene's DNA sequence can alter the amino acid sequence of the protein encoded by the gene
Mutation rate is the amount of the rate at which different types of mutations happen over time. The rate of replacements can be additional sectioned
into a mutation spectrum which describes the effect of genetic context on the mutation rate. The mutation rate of an organism is a progressed
characteristic and is strongly affected by the genetics of each organism, also including strong influence from the environment.
Why mutation is important: Mutation is what causes variety, and that is what leads to evolution over time. Evolution completely depends on mutations
because it is the only way that new alleles and new regulatory regions are made.
Small–scale mutations, like affecting a small gene is one or a few nucleotides, including point mutations which is malfunction of DNA replication,
exchange a single nucleotide for another, Adding one or more extra nucleotides into DNA, and removing one or more nucleotides from Dante 3 types
of codes are depending on what the erroneous codon code is for:
1.Silent mutation codes for a different amino

Phenotypic Expression Of A Trait
On any single day, people come across an array of different eye–colors. Some of the most common known eye colors include brown, blue, green, and
hazel pigments. But there are plenty of "in–between" colors that are often overlooked. For example, individuals with blue eyes might express light blue
pigment in the iris of their eyes, while others might express dark blue pigment. It is interesting how eye–color can change as an individual ages. Some
of the questions that will be addressed in this paper include the number of genes involved in the phenotypic expression of this trait, what those genes
are, and which chromosome or chromosomes these gene(s) are found on. Often when the phenotypic expression of a trait is continuous, it can be
predicted that there is more than one gene involved in coding for the trait. This can be referred to as a polygenic trait.
It is often recognized that skin pigment is associated with skin cancer risks as more melanin in the skin can help to protect individuals from sun
damage. Though it is less understood, it has also been hypothesized that eye color could have implications about an individual's susceptibility to skin
cancer. This topic will be discussed below in regards to which genes are involved in both eye color and possible skin cancer risks. Furthermore, when it
comes to understanding albinism, it important to recognize that not only is skin pigment influenced, but also eye–color and hair–color, thus it becomes
apparent that iris pigment

Family History Of Dna Genetic Testing
DNA is the genetic code that exists in all living organisms. Usually, DNA is replicated with the same genetic information. However, there are some
mistakes which occur during the DNA replication, which will result in some complications and abnormalities in genes leading to genetic diseases.128
So the identification of genetic mutations is an important component in the early diagnosis of many types of diseases and undesirable behaviors.
Genetic testing is usually required for a diagnostic reason if there are symptoms of a disease that may be caused by genetic alterations. If there is a
family history of a genetic condition, it is always wise to take the genetic testing before the symptoms show up. Genetic tests are available for the
pregnant

ABCC1 Gene Essay
Received: May 2017; Accepted: date; Published: date
Abstract: The ABCC1 gene is structurally and functionally related to the cystic fibrosis transmembrane conductance regulator gene. Up–regulation of
ABCC1 is thought to improve lung function in patients with cystic fibrosis (CF), the mechanism underlying this effect is unknown. We analyzed the
ABCC1 promoter single nucleotide polymorphism (SNP rs504348), plasma–induced ABCC1 mRNA expression levels, and ABCC1 methylation status
and their correlation with clinical variables among CF subjects with differing CFTR mutations. We assigned 93 CF subjects into disease severity
groups and genotyped SNP rs504348. For 23 CF subjects and 7 healthy controls, donor peripheral blood mononuclear cells ... Show more content on
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Despite advances in newborn screening and treatments for CF, clinical heterogeneity remains a major challenge [2]. Modifier genes that may impact
CF disease severity are emerging keys to deciphering clinical heterogeneity [3–6].
The gene encoding the multidrug resistance–associated protein 1, ABCC1/MRP1, is a candidate for further molecular investigation based on its
structural and functional association with CFTR, [7]. ABCC1, as well as CFTR (ABCC7) and 11 other genes associated with multidrug resistance, are
subfamily C members of the ATP–binding cassette (ABC) transporter genes [8]. The diverse activities of subfamily C transporters include
transportation of chemotherapeutic agents, amino acids, glutathione conjugates, and small peptides, as well as excretion of fungal and bacteria toxins
[8–10]. CFTR is unique among the ABC subfamily C members of transporters due to its intrinsic ability to conduct chloride ions at a fast rate [10,11];
but shares its closest homology with ABCC1 [12,13].
Since the cloning of ABCC1 in the early 90s [14,15], progress has been made towards establishing a functional relationship between ABCC1 and
CFTR. For example, functional complementation of dysfunctional CFTR by ABCC1 following chemotherapy that resulted in increased expression of
ABCC1, was associated with improved lung function in a CF patient [12]. A study analyzing nasal epithelial cells in CF patients also showed that low
ABCC1 transcript levels were associated with more

The Roles Of DNA : The Development Of Complex Proteomes
The development of complex proteomes without a comparable increase in gene number is due to the different patterns of splicing by the spliceosome
machinery. Not only are there mechanics to consider with the spliceosome complex, but there is a kinetic component to splicing as well (Larochelle,
2017). When a DNA sequence is transcribed into a pre–mRNA sequence, it includes exons and introns, which are coding sequences and noncoding
sequences respectively. The introns are removed through a two–step cleavage–ligation reaction using a spliceosome. 5вЂІ and 3вЂІ splice site (SS)
consensus sequences outline the intron–exon boundaries. In the first step, the 2' hydroxyl group on the nucleotide on the branch site strikes the 5' splice
site, and the ... Show more content on Helpwriting.net ...
Whether a transcript is degraded or translated into product is linked to ATP hydrolysis, but fidelity of the sequence also plays a role. This "kinetic
proofreading" is especially utilized in mRNA splicing. Kinetic proofreading allows for additional specificity to the regulation and creation of an
accurate product through an irreversible step that causes the reaction intermediate to leave the pathway of splicing to become degraded if a mutation is
detected. If that step occurs quickly in relation to the rest of the pathway, then the specificity can increase greatly (Hopfield, 1974). The mutant prp–16
is created through a single nucleotide polymorphism, as an A nucleotide is exchanged for a C nucleotide, interchanging one different amino acid in the
product (Burgess, 1993). The mutant product acts slower in the kinetic proofreading process occurring during mRNA splicing by decreasing the
activity of the ATPase, which can allow mutant mRNA products to proceed through the pathway to become a protein by not sending them down the
discard pathway.
Currently, there is a gap in knowledge about the importance of molecular clocks and the possible effects of alterations to them. Molecular clocks
regulate several processes, such as the circadian rhythm and the immune system, that occur within an organism, so changing them could cause a
multitude of effects (Curtis 2016). A possible and detrimental effect of slowing down

Stephen Liggett's Case Study
Stephen Liggett, professor of medicine at the University of Cincinnati College of Medicine, and colleagues carried out tests of the DNA of 121
patients with asthma had found 4 different patterns of DNA in a gene that helps to relax muscles in a person's lungs. Lung function was measured
before and after treatment with albuterol, with the individual responses correlated to the sequence of variations found in discrete regions of a person's
DNA. Albuterol works by blocking the ОІ2–adrenergic receptor. It aiding the flow of air to the lungs by causing muscles to relax and allows bronchial
tubes to dilate. Albuterol worked well in those with 1 pattern, not at all in those with another, and moderately in the other 2 cases. Liggett conclude that
identifying the genes that affect the way a person responds to the drug will help physicians tailor prescriptions for each patient. The regions in DNA
that the researchers were examining are single nucleotide polymorphisms. Some single nucleotide polymorphisms act like typographic errors, causing
abnormalities in the DNA, while others do not seem to matter. In this case, researchers had previously found that the ОІ2–adrenergic receptor ... Show
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Endotyping asthma serves as a stepping stone toward the practice of personalized medicine for asthma. Targeting therapy based on asthma endotypes
would at least allow the physicians to target treatment based on an individual's biology. Treatments that tailored to endotypes had achieved some
success in clinical trial. For example, in the case of childhood onset allergic asthma, anti–IgE (omalizumab) has been effective in improving the clinical
outcomes. As recently reviewed by Kuhl and Hanania, interleukin (IL)–4 and 13 signal pathways are probably the predominant underlying mechanism.
For the treatment of severe

Association Analysis Of Novel Snps ' Exon 10 Of Growth...
Association analysis of novel SNPs in exon 10 of growth hormone receptor gene with growth traits in Indian sheep
Amiya Ranjan Sahu*1, V. Jeichitra2, R. Rajendran3 and A. Raja4
Animal Genetics and Breeding, MVC, TANUVAS, Chennai, India
*Corresponding Author: dramiyavet@gmail.com
Present address:
1.Ph.D. Scholar, Animal Genetics and Breeding, ICAR–Indian Veterinary Research Institute, Izatnagar, U.P., India
2.Associate Professor, Animal Genetics and Breeding, Veterinary College and Research Institute, Orathanadu, T.N., India
3.Professor, Directorate of Research, TANUVAS, Chennai, T.N., India
4.Professor, Animal Biotechnology, Madras Veterinary College, TANUVAS, Chennai, T.N., India
Summary
Growth hormone receptor (GHR) ... Show more content on Helpwriting.net ...
Key words sheep, growth hormone receptor gene, polymorphism, tetra–primer ARMS–PCR
Introduction
Small ruminants are used by the human being in many ways that provides proteinous meat, induces the growth of farmers' income, facilitates rural
employment and improves fertility of the soil (Thiruvenkadan et al. 2011). As per 19th Livestock Census, India possesses 42 breeds of total 65.06
million numbers of sheep (Livestock Census Report 2012). The sheep population constitute 12.7% of the total livestock population of India and ranks
2nd in the world sheep population (FAOSTAT 2014). Total annual mutton production in the country is around 7.12%. The sheep population of Tamil
Nadu is 4.47 million numbers which produces approximately 31440 tonnes of mutton (Anon. 2015). The efficiency of sheep enterprises can be uplifted
by increasing litter size, lamb weight, mutton production and by the improvement in quality of wool. DNA based molecular markers are used
efficiently for assessment of genetic diversity, selection of animals in early age, study of population structure, mapping of genes and quantitative trait
loci (QTLs), and breeding based on genomic selection (Collard et al. 2005). The relationship between the economic traits and the genes associated with
these are studied by the candidate gene approach (Andersson 2001). Marker Assisted Selection (MAS)

Alcohol Dependency Summary
The article by Bierut et al. 2010 is a discovery science article, in which there are no hypotheses tested. This article focuses on alcohol dependence and
the genetic influences that may contribute to the rapid growing dependency. Various case subjects were used to analyze the results from, the
Collaborative Study on the Genetics of Alcoholism (COGA), Family Study of Cocaine Dependence (FSCD) in addition to the Collaborative Genetic
Study of Nicotine Dependence (COGEND). This genome–wide association case study Bierut et. al analyzed various single nucleotide polymorphisms,
likewise known as, SNPs, that are capable of being genetically linked to alcohol dependency. SNPs are nucleotides that contain genetic variation in the
genome as well as, vary between individuals. ... Show more content on Helpwriting.net ...
They correspondingly focused on a gene that known for its linkage to alcohol dependency, GABRA2. GABRA2 functions as a neurotransmitter in the
brain that coincides with the behavior effects of alcohol (Beirut et al., 2010). Using their knowledge of SNPs with the GABRA2 gene, they compared
approximately в‰€1,900 individuals of European and African
–American descent with alcohol dependency issues to в‰€1,900 individuals that have
been exposed to alcohol, nonetheless had no known link to dependency. The results of the case presented that out of studied individuals,
European–American males were the most commonly affected, however of the 15 SNPs that were studied with them, none displayed a correlation that
was higher than the p–value threshold of

What Are Molecular Markers?
What are molecular markers?
DNA sequences that show polymorphisms (variations in size or sequence) in the population. They provide information about allelic variation at a given
locus.
Properties of molecular markers:
1.Polymorphic
2.Frequently distributed along the genome
3.Easily detected
4.Reproducible
5.Most are co–dominant but a few are dominant (RAPD)
Common Molecular Markers:
RFLP: Restriction Fragment Length Polymorphism
AFLP: Amplified Fragment Length Polymorphism
RAPD: Random Amplified Polymorphic DNA
VNTR: Variable Number Tandem Repeat
STR: Short Tandem Repeat
SNP: Single Nucleotide Polymorphism
Types of useful Polymorphisms and Laboratory Methods
PolymorphismStructureDetection Method
RFLPOne or more nucleotide changes that affect the size of restriction enzyme productsSouthern Blot
VNTRRepeats of 10–50bp sequences in tandemSouthern Blot, PCR

STRRepeats of 1–10bp sequences in tandemPCR
SNPAlterations of a single nucleotideSequencing
Buckingham and Flaws. Molecular Diagnostics: Fundamentals, Methods and Clinical Applications. F.A.Davis. 2007. Page 226.
RFLP–Restriction Fragment Length Polymorphism
A fragment length variant that is generated through the presence or absence of a restriction enzyme recognition site
Restriction sites could be gained or lost by base substitutions, insertions or deletions
AFLP– Amplified Fragment Length Polymorphism
Selective restriction fragment amplification
Based on the ligation of

Characteristics Of A Nucleotide Substitutions Essay
are G to A nucleotide substitutions. Consequently, these nucleotide substitutions result in three amino acid substitutions; arginine to cysteine, glycine
to aspartic acid, and glycine to glutamic acid, respectively . All three mutations occur within the collagen domain changing its ability to oligomerize
(the mutant forms). The wild–type is termed allele "A" while the structural variants B, C and D are often gathered and referred to as zero (0) .
Despite their uneven distribution in human populations, MBL gene variants are quite frequent . The frequencies of allele "B" are 0.14 among
Caucasians, 0.25 among Asians and 0.50 among indigenous South Americans. However, allele "B" is extremely rare in West Africa. On the other
hand, allele "C" is rare among Caucasians but common in sub–Saharan Africa. Generally, Allele "D" is rather uncommon and to great extent is
restricted to North Africans and Caucasians .
The high incidence of structural variants among populations throughout the world may confer biological advantages as individuals heterozygous for B,
C, and D may be protected against some intracellular pathogens i.e. Mycobacteria species and Leishmania species .
Furthermore, studies of Madsen and his colleagues revealed two common promoter polymorphisms in the upstream promoter region. They are of
importance and can affect MBL serum level. These polymorphisms are found at positions –550 (H/L variant, where L is the wild type allele) and–221
(X/Y variant, where Y is the

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