there are s many methods are used in diagnosis of human gene mutation which occur disorders ,here u get information about the diagnostic method for genetic mutation detection
Sanger sequencing is one of the DNA sequencing methods used to identify and determine the sequence (Nucleotide) of DNA .This is an enzymatic method of sequencing developed by Fred Sanger.
Sanger sequencing is one of the DNA sequencing methods used to identify and determine the sequence (Nucleotide) of DNA .This is an enzymatic method of sequencing developed by Fred Sanger.
Sanger sequencing is a method of DNA sequencing based on the selective incorporation of chain-terminating dideoxynucleotides by DNA polymerase during in vitro DNA replication.
Genomic library and shotgun sequencing. It includes the topics about genomic library,construction method, its uses and applications, shotgun sequencing, difference between random and whole genome sequencing, its advantages and disadvantages etc.
STS stands for sequence tagged site which is short DNA sequence, generally between 100 and 500 bp in length, that is easily recognizable and occurs only once in the chromosome or genome being studied.
Cell cell hybridization or somatic cell hybridizationSubhradeep sarkar
What is Cell-Cell Hybridization?
History
More about Somatic cell Hybridization
Mapping of genes by somatic cell Hybridization
Hybridoma technology
Other Applications of Somatic Cell Hybridization
Sanger sequencing is a method of DNA sequencing based on the selective incorporation of chain-terminating dideoxynucleotides by DNA polymerase during in vitro DNA replication.
Genomic library and shotgun sequencing. It includes the topics about genomic library,construction method, its uses and applications, shotgun sequencing, difference between random and whole genome sequencing, its advantages and disadvantages etc.
STS stands for sequence tagged site which is short DNA sequence, generally between 100 and 500 bp in length, that is easily recognizable and occurs only once in the chromosome or genome being studied.
Cell cell hybridization or somatic cell hybridizationSubhradeep sarkar
What is Cell-Cell Hybridization?
History
More about Somatic cell Hybridization
Mapping of genes by somatic cell Hybridization
Hybridoma technology
Other Applications of Somatic Cell Hybridization
Describe the steps in Sanger DNA sequencing. Provide a high level des.pdffatoryoutlets
Consider the program: var s: int:= 1, i: int co i:= 1 to 2 rightarrow do true rightarrow (await s >
0 rightarrow s: = s - 1) (s:= s + 1) Above, S_i is a statement list that is assumed not to modify
shared variable s. Develop complete proof outlines for the two processes. Demonstrate that the
proofs of the processes are interference-free. Then use the proof outlines and the method of
Exclusion of Configurations (2.25) to show that S_1 and S_2 cannot execute at the same time
and that the program is deadlock-free. What scheduling policy is required to ensure that a
process delayed at its first await statement will eventually be able to proceed? Explain.
Solution
int i=1
do(i=1 to 2)
{
wait(s>0){
s=s-1
Si
}
s=s+1
}
to prove that it should be deadlock free it should support mutual exclusion,progress,bounded
waiting.
mutual exclusion:-
p1:
int i=1
do(i=1 to 2) //entry section
{
wait(s>0){ //critical section
s=s-1
Si
}
s=s+1
} //exit section
so while p1 is exexcuting p2 while s enters into critical section as we don\'t update any values so
mutual exclusion is possible and can be formed.
progress:-
when p1 is in non-critical section p2can execute in critical section.program gurantees progress.
bounded-waiting :-
suitable for ony countable no of procedures and processes.
as it satisfies all properties ....so it\'s deadlock free..
Origin of life in universe is most debating and interesting topic for all scientist .which divided in 3 parts chemosynthesis theory ,RNA world hypothesis and some evidence about extraterrestrial life.
India is not that country of religions its country of unity ,love and purity where peoples live with big heart . but still India is different than world . just watch it and it will be use full for Indians to know where we are
Epidermodysplasia verruciformis which is from papiloma virus and cause Very Dangerous diseases which called as Tree Man Illness in this description some molecular markers are use to detection of this virus
Topic from Molecular ecology in which its possible to sexual selection According to color Polymorphism In small animals Like fish,butterfly,birds In laboratory scale by applying Molecular makrers
Understanding of Models use for biomedical research who have similar physiological function like humans ,and the how to generate and which models are useful
Flu Vaccine Alert in Bangalore Karnatakaaddon Scans
As flu season approaches, health officials in Bangalore, Karnataka, are urging residents to get their flu vaccinations. The seasonal flu, while common, can lead to severe health complications, particularly for vulnerable populations such as young children, the elderly, and those with underlying health conditions.
Dr. Vidisha Kumari, a leading epidemiologist in Bangalore, emphasizes the importance of getting vaccinated. "The flu vaccine is our best defense against the influenza virus. It not only protects individuals but also helps prevent the spread of the virus in our communities," he says.
This year, the flu season is expected to coincide with a potential increase in other respiratory illnesses. The Karnataka Health Department has launched an awareness campaign highlighting the significance of flu vaccinations. They have set up multiple vaccination centers across Bangalore, making it convenient for residents to receive their shots.
To encourage widespread vaccination, the government is also collaborating with local schools, workplaces, and community centers to facilitate vaccination drives. Special attention is being given to ensuring that the vaccine is accessible to all, including marginalized communities who may have limited access to healthcare.
Residents are reminded that the flu vaccine is safe and effective. Common side effects are mild and may include soreness at the injection site, mild fever, or muscle aches. These side effects are generally short-lived and far less severe than the flu itself.
Healthcare providers are also stressing the importance of continuing COVID-19 precautions. Wearing masks, practicing good hand hygiene, and maintaining social distancing are still crucial, especially in crowded places.
Protect yourself and your loved ones by getting vaccinated. Together, we can help keep Bangalore healthy and safe this flu season. For more information on vaccination centers and schedules, residents can visit the Karnataka Health Department’s official website or follow their social media pages.
Stay informed, stay safe, and get your flu shot today!
The Gram stain is a fundamental technique in microbiology used to classify bacteria based on their cell wall structure. It provides a quick and simple method to distinguish between Gram-positive and Gram-negative bacteria, which have different susceptibilities to antibiotics
Muktapishti is a traditional Ayurvedic preparation made from Shoditha Mukta (Purified Pearl), is believed to help regulate thyroid function and reduce symptoms of hyperthyroidism due to its cooling and balancing properties. Clinical evidence on its efficacy remains limited, necessitating further research to validate its therapeutic benefits.
New Drug Discovery and Development .....NEHA GUPTA
The "New Drug Discovery and Development" process involves the identification, design, testing, and manufacturing of novel pharmaceutical compounds with the aim of introducing new and improved treatments for various medical conditions. This comprehensive endeavor encompasses various stages, including target identification, preclinical studies, clinical trials, regulatory approval, and post-market surveillance. It involves multidisciplinary collaboration among scientists, researchers, clinicians, regulatory experts, and pharmaceutical companies to bring innovative therapies to market and address unmet medical needs.
Title: Sense of Smell
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the primary categories of smells and the concept of odor blindness.
Explain the structure and location of the olfactory membrane and mucosa, including the types and roles of cells involved in olfaction.
Describe the pathway and mechanisms of olfactory signal transmission from the olfactory receptors to the brain.
Illustrate the biochemical cascade triggered by odorant binding to olfactory receptors, including the role of G-proteins and second messengers in generating an action potential.
Identify different types of olfactory disorders such as anosmia, hyposmia, hyperosmia, and dysosmia, including their potential causes.
Key Topics:
Olfactory Genes:
3% of the human genome accounts for olfactory genes.
400 genes for odorant receptors.
Olfactory Membrane:
Located in the superior part of the nasal cavity.
Medially: Folds downward along the superior septum.
Laterally: Folds over the superior turbinate and upper surface of the middle turbinate.
Total surface area: 5-10 square centimeters.
Olfactory Mucosa:
Olfactory Cells: Bipolar nerve cells derived from the CNS (100 million), with 4-25 olfactory cilia per cell.
Sustentacular Cells: Produce mucus and maintain ionic and molecular environment.
Basal Cells: Replace worn-out olfactory cells with an average lifespan of 1-2 months.
Bowman’s Gland: Secretes mucus.
Stimulation of Olfactory Cells:
Odorant dissolves in mucus and attaches to receptors on olfactory cilia.
Involves a cascade effect through G-proteins and second messengers, leading to depolarization and action potential generation in the olfactory nerve.
Quality of a Good Odorant:
Small (3-20 Carbon atoms), volatile, water-soluble, and lipid-soluble.
Facilitated by odorant-binding proteins in mucus.
Membrane Potential and Action Potential:
Resting membrane potential: -55mV.
Action potential frequency in the olfactory nerve increases with odorant strength.
Adaptation Towards the Sense of Smell:
Rapid adaptation within the first second, with further slow adaptation.
Psychological adaptation greater than receptor adaptation, involving feedback inhibition from the central nervous system.
Primary Sensations of Smell:
Camphoraceous, Musky, Floral, Pepperminty, Ethereal, Pungent, Putrid.
Odor Detection Threshold:
Examples: Hydrogen sulfide (0.0005 ppm), Methyl-mercaptan (0.002 ppm).
Some toxic substances are odorless at lethal concentrations.
Characteristics of Smell:
Odor blindness for single substances due to lack of appropriate receptor protein.
Behavioral and emotional influences of smell.
Transmission of Olfactory Signals:
From olfactory cells to glomeruli in the olfactory bulb, involving lateral inhibition.
Primitive, less old, and new olfactory systems with different path
Basavarajeeyam is an important text for ayurvedic physician belonging to andhra pradehs. It is a popular compendium in various parts of our country as well as in andhra pradesh. The content of the text was presented in sanskrit and telugu language (Bilingual). One of the most famous book in ayurvedic pharmaceutics and therapeutics. This book contains 25 chapters called as prakaranas. Many rasaoushadis were explained, pioneer of dhatu druti, nadi pareeksha, mutra pareeksha etc. Belongs to the period of 15-16 century. New diseases like upadamsha, phiranga rogas are explained.
These simplified slides by Dr. Sidra Arshad present an overview of the non-respiratory functions of the respiratory tract.
Learning objectives:
1. Enlist the non-respiratory functions of the respiratory tract
2. Briefly explain how these functions are carried out
3. Discuss the significance of dead space
4. Differentiate between minute ventilation and alveolar ventilation
5. Describe the cough and sneeze reflexes
Study Resources:
1. Chapter 39, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 34, Ganong’s Review of Medical Physiology, 26th edition
3. Chapter 17, Human Physiology by Lauralee Sherwood, 9th edition
4. Non-respiratory functions of the lungs https://academic.oup.com/bjaed/article/13/3/98/278874
Basavarajeeyam is a Sreshta Sangraha grantha (Compiled book ), written by Neelkanta kotturu Basavaraja Virachita. It contains 25 Prakaranas, First 24 Chapters related to Rogas& 25th to Rasadravyas.
Tom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness Journeygreendigital
Tom Selleck, an enduring figure in Hollywood. has captivated audiences for decades with his rugged charm, iconic moustache. and memorable roles in television and film. From his breakout role as Thomas Magnum in Magnum P.I. to his current portrayal of Frank Reagan in Blue Bloods. Selleck's career has spanned over 50 years. But beyond his professional achievements. fans have often been curious about Tom Selleck Health. especially as he has aged in the public eye.
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Introduction
Many have been interested in Tom Selleck health. not only because of his enduring presence on screen but also because of the challenges. and lifestyle choices he has faced and made over the years. This article delves into the various aspects of Tom Selleck health. exploring his fitness regimen, diet, mental health. and the challenges he has encountered as he ages. We'll look at how he maintains his well-being. the health issues he has faced, and his approach to ageing .
Early Life and Career
Childhood and Athletic Beginnings
Tom Selleck was born on January 29, 1945, in Detroit, Michigan, and grew up in Sherman Oaks, California. From an early age, he was involved in sports, particularly basketball. which played a significant role in his physical development. His athletic pursuits continued into college. where he attended the University of Southern California (USC) on a basketball scholarship. This early involvement in sports laid a strong foundation for his physical health and disciplined lifestyle.
Transition to Acting
Selleck's transition from an athlete to an actor came with its physical demands. His first significant role in "Magnum P.I." required him to perform various stunts and maintain a fit appearance. This role, which he played from 1980 to 1988. necessitated a rigorous fitness routine to meet the show's demands. setting the stage for his long-term commitment to health and wellness.
Fitness Regimen
Workout Routine
Tom Selleck health and fitness regimen has evolved. adapting to his changing roles and age. During his "Magnum, P.I." days. Selleck's workouts were intense and focused on building and maintaining muscle mass. His routine included weightlifting, cardiovascular exercises. and specific training for the stunts he performed on the show.
Selleck adjusted his fitness routine as he aged to suit his body's needs. Today, his workouts focus on maintaining flexibility, strength, and cardiovascular health. He incorporates low-impact exercises such as swimming, walking, and light weightlifting. This balanced approach helps him stay fit without putting undue strain on his joints and muscles.
Importance of Flexibility and Mobility
In recent years, Selleck has emphasized the importance of flexibility and mobility in his fitness regimen. Understanding the natural decline in muscle mass and joint flexibility with age. he includes stretching and yoga in his routine. These practices help prevent injuries, improve posture, and maintain mobilit
Ozempic: Preoperative Management of Patients on GLP-1 Receptor Agonists Saeid Safari
Preoperative Management of Patients on GLP-1 Receptor Agonists like Ozempic and Semiglutide
ASA GUIDELINE
NYSORA Guideline
2 Case Reports of Gastric Ultrasound
- Video recording of this lecture in English language: https://youtu.be/kqbnxVAZs-0
- Video recording of this lecture in Arabic language: https://youtu.be/SINlygW1Mpc
- Link to download the book free: https://nephrotube.blogspot.com/p/nephrotube-nephrology-books.html
- Link to NephroTube website: www.NephroTube.com
- Link to NephroTube social media accounts: https://nephrotube.blogspot.com/p/join-nephrotube-on-social-media.html
2. • The diploid human genome including twenty-three pairs of
chromosomes is composed of 20–25 thousand genes.
•DNA (Adenine, Thymine, Cytosine and Guanine )
•An allele is positioned on a locus, the specific location of a gene or
DNA sequence on a chromosome; so the diploid genome contains
two alleles of each gene
•Chromosomes 1 to 22 are called autosomes and the twenty-third
pair is the sex chromosomes, i.e. X and Y
3. •If the DNA sequence is mutated and the alteration is not repaired by the
cell, subsequent replications reproduce the mutation.
•mutations ranging from a single nucleotide alteration to the loss,
duplication or rearrangement of chromosomes.
•Genetic diseases are usually categorized into single-gene, chromosomal,
and multi-factorial disorders(mix with environmental factor)
4. • Single gene disorders arising from errors in DNA sequence of a gene
are categorized into autosomal dominant (AD), autosomal recessive
(AR), X-linked recessive (XR), X-linked dominant and Y-linked
(holandric) disorders.
•In autosomal dominant disorders, damage in one allele of a pair of the
gene leads to the deficiency , e.g. a mutation in FGFR3 gene can cause
achondroplasia.
•Mutations in both alleles (loss of function) of a gene are required to
cause the defect to appear in an autosomal recessive disorder, i.e. an
affected person has got one abnormal allele from one heterozygous
parent. In this type of disorders, there is a 25% chance of having an
affected offspring for heterozygous parents
5. •Somatic cells proliferate via division called mitosis while germ
cells are produced through meiosis division.
•Oogenesis begins in the female fetus at 12 weeks, but it is stopped
in a stage of meiosis I
•Aneuploidy is usually due to failure of segregation of chromosomes
in meiosis I or meiosis II .
examples of numerical aberrations include Down
syndrome (trisomy 21), Edwards syndrome (trisomy 18), Patau
syndrome (trisomy 13), Klinefelter syndrome (XXY syndrome),
Turner syndrome (monosomy X) and trisomy X. Chromosomal
errors in oocytes are increased dramatically with maternal age
6. •Mutations can also be categorized on the basis of the function:
1) The loss-of-function mutations cause a decrease or a loss of
the gene product or the activity of the gene product.
2)The gain-of-function mutations cause an increase in the
amount of gene product or its activity, and sometimes create a new
property, leading to a toxic product responsible for a pathological
effect.
7. •The detection of mutations has an increasingly
central role in various areas of genetic diagnosis
including preimplantation genetic diagnosis (PGD),
prenatal diagnosis (PND), presymptomatic testing,
confirmational diagnosis and forensic/identity
testing.
• There are two approaches for genetic diagnosis:
Direct: diagnosis essentially depends on the detection of the genetic
variations responsible for the disease.
Indirect: depends on the results from a genetic linkage analysis using
DNA markers such as STR(short tandem repeat) or VNTR (variable
number tandem repeat) markers flanking or within the gene
•Two groups of tests, molecular and cytogenetic, are used in genetic
syndromes.
8. • Chromosome studies are advised in the following situations:
suspected chromosome abnormality, sexual disorders, multiple
congenital anomalies and/or developmental retardation, undiagnosed
learning disabilities, infertility .
• Traditionally, the microscopic study of chromosomes is performed on
compacted chromosomes at a magnification of about 1000 at metaphase
•Preparation of a visual karyotype is done by arresting dividing cells at
metaphase stage with a microtubule polymerization inhibitor such as
colchicine; the cells, then, are spread on a glass slide and stained with
Giemsa stain (G-banding)
Conventional Karyotyping
9. Fluorescence in situ hybridization (FISH)
•FISH is applied to provide specific localization of genes on
chromosomes. Rapid diagnosis of trisomies and microdeletions is
acquired using specific probes. Usually a denatured probe is added to a
metaphase chromosome spread and incubated overnight to allow
sequence-specific hybridization.
Comparative genomic hybridization (CGH)
CGH, a special FISH technique (dual probes), is applied for detecting all genomic
imbalances. The basics of technique is comparison of total genomic DNA of the
given sample DNA (e.g. tumor DNA) with total genomic DNA of normal cells.
It is used to determine copy number alterations of genome in cancer and
those cells whose karyotype is hard or impossible to prepare or analyze.
In array-CGH, metaphase slide is replaced by specific DNA sequences,
spotted in arrays on glass slides; so its resolution is increased.
10. •It combines laboratory medicine with molecular genetics to develop
DNA/RNA-based analytical methods for monitoring human pathologies.
A wide range of methods has been used for mutation detection
Known Mutations
Molecular diagnostics
•Polymerase chain reaction (PCR) and its versions
1980, Dr Mullis introduced a method for amplifying DNA
fragment to a large number of fragments in only a few hours
Essential components of polymerase chain reaction are template
DNA, primers (a pair of synthetic oligonucleotides
complementary to the two strands of target DNA), thermostable
DNA polymerase enzyme (e.g. Taq), divalent cations (usually
Mg2+ ), deoxynucleoside triphosphates (dNTPs) and buffer
solution
11.
12. Denaturation step includes heating the reaction to 92–98°C for 20–30
seconds. The hydrogen bonds between complementary bases are disrupted and
DNA molecules are denatured, yielding single-stranded DNA molecules
Annealing step is performed by decreasing temperature to 50–65°C for 25–40
seconds; so the primers are annealed to their targets on single stranded DNAs
by hydrogen bonds and a polymerase can bind to the primer-template hybrid
and begin DNA polymerization in next step
Extension step includes polymerization of the bases to the primers; a
thermostable such as Taq polymerase extends a new strand complementary to
the DNA template strand by adding matched dNTPs in 5’ to 3’ direction at a
temperature of 72°C. A final elongation is sometimes done at 70–74°C for 5–15
minutes after the last PCR cycle to ensure full extension of any remaining
single-stranded DNA
13. •Reverse transcriptase PCR (RT-PCR): In this version, a strand of RNA
molecule is transcribed reversely into its complementary DNA (cDNA) using
the reverse transcriptase enzyme.
•Multiplex PCR: In this technique, multiple selected target regions in a
sample are amplified simultaneously using different pairs of primers.
•Nested PCR: It includes two successive PCRs; the product of the first PCR
reaction is used as a template for the second PCR. This type of PCR is
employed to amplify templates in low copy numbers in specimens. It has the
benefits of increased sensitivity and specificity.
•Real time PCR: In this technique, the amplified DNA is detected as the PCR
progresses. It is commonly used in gene expression studies and quantification
of initial copy number of the target.
•Amplification refractory mutation system (ARMS) PCR: Allele-specific
amplification (AS-PCR) or ARMS-PCR is a general technique for the
detection of any point mutation or small deletion.
14. •DNA microarray DNA “chips” or microarrays have been used as a possible
testing for multiple mutations. In this technology, single DNA strands including
sequences of different targets are fixed to a solid support in an array format. On
the other hand, the sample DNA or cDNA labeled with fluorescent dyes is
hybridized to the chip Then using a laser system, the presence of fluorescence
is checked; the sequences and their quantities in the sample are determined.
•DNA Sequencing: As a powerful technique in molecular genetics, DNA
sequencing provides analysis of genes at the nucleotide level. The main aim of
DNA sequencing is to determine the sequence of small regions of interest (∼1
kilobase) using a PCR product as a template. Dideoxynucleotide sequencing or
Sanger sequencing represents the most widely used technique for sequencing
DNA
•Multiplex ligation-dependent probe amplification (MLPA): MLPA is
commonly applied to screen deletions and duplications of up to 50 different
genomic DNA or RNA sequences
15. Unknown Mutations
Single Strand Conformational Polymorphism (SSCP)
DNA fragments are denatured, and renatured under
special conditions preventing the formation of double-
stranded DNA and allowing conformational structures to
form in single-stranded fragments
Denaturing Gradient Gel Electrophoresis (DGGE)
It is based on differences in the melting behavior of small
DNA fragments (200-700 bp); even a single base
substitution can cause such a difference. In this technique,
DNA is first extracted and subjected to denaturing gradient
gel electrophoresis.
16. Heteroduplex analysis
A mixture of wild-type and mutant DNA molecules is denatured and
renatured to produce heteroduplices. Homoduplices and heteroduplices
show different electrophoretic mobilities through nondenaturing
polyacrylamide gels. In this technique, fragment size ranges between 200
and 600 bp. Nearly 80% of point mutations have been estimated to be
detected by heteroduplex analysis.
Restriction fragment length polymorphism (RFLP)
Point mutations can change restriction sites in DNA causing alteration in
cleavage by restriction endonucleases which produce fragments with various
sizes , RFLP is used to detect mutations occurring in restriction
sites
18. Conclusion
• PCR as a powerful and sensitive technique
can amplify very small amounts of DNA.
• Characterization of the genetic basis of the
disease is required for an accurate diagnosis.
• Molecular diagnosis of genetic disorders is noticed as the detection of the
pathogenic mutations in DNA and/or RNA samples. It could facilitate fine
subclassification, prognosis, and therapy of disorders.