Gene interaction and diseases
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This document discusses gene interaction and its relationship to diseases. It begins by outlining gene interaction, including its mechanism, types (gene-gene and gene-environment), and forms of allelic and non-allelic interaction. A key form of gene interaction is epistasis, where one gene masks the effects of other genes. Several diseases are influenced by epistatic gene interactions, including Alzheimer's disease, cystic fibrosis, diabetes, and some cancers. For example, the risk of Alzheimer's is affected by interactions between the apolipoprotein e4 gene and other genes. Diabetes risk is influenced by interactions between loci on different chromosomes.
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Gene interaction
This document discusses gene interaction and different types of epistasis. It defines gene interaction as when the expression of one gene depends on the presence or absence of another gene. There are two main types of gene interaction - allelic/non-epistatic and non-allelic/epistatic. Epistasis refers to one gene masking or interfering with the expression of another gene. The document outlines and provides examples of different types of epistatic gene interactions, including dominant epistasis, recessive epistasis, dominant inhibitory epistasis, duplicate dominant epistasis, and duplicate recessive epistasis.
Interaction of genes: Epistasis, Codominance and incomplete dominance
RTM Nagpur University, Nagpur, B. Sc. Semester III, Paper II, 1.1: Interaction of genes: Epistasis, Codominance and incomplete dominance
Test Cross & Back cross
A test cross is performed to determine the genotype of a plant with dominant expression by crossing it with a recessive plant. A backcross involves breeding an F1 hybrid with one of its parents. A test cross identifies if a dominant phenotype is homozygous or heterozygous, while a backcross recovers the elite genotype of the parent and produces offspring genetically closer to the F1 hybrid's parents.
Mendel's law
The document summarizes Mendel's laws of inheritance based on his experiments with pea plants. It discusses Mendel's discovery of the laws of dominance, segregation, and independent assortment through monohybrid and dihybrid crosses. The law of dominance states that one trait will mask the other in hybrid offspring. The law of segregation explains that alleles separate during gamete formation so each gamete contains one allele. The law of independent assortment says that allele pairs assort independently, resulting in multiple allele combinations in offspring. Mendel's laws explained inheritance of traits for the first time.
Epistasis
Epistasis is a Greek word that means standing over .Bateson used it to describe the masking effect in 1909.
An interaction between a pair of loci in which the phenotype effect of one locus depends on the genotype at the second locus.
Genes whose phenotypes are ;
Expressed,epistatic.
Altered or suppressed hypostatic.
Genetic fine str. analysis & complementation
The concept of the gene has evolved over time based on experimental evidence:
1. Early views were that a gene equals one character (Mendel) or metabolic function (Garrod).
2. Experiments in the 1940s-50s showed genes encode enzymes or polypeptides.
3. Benzer's experiments in the 1950s-60s demonstrated that genes have fine structure and recombination can occur within genes, not just between genes. The nucleotide, not the gene, is the basic unit of genetic structure.
4. Complementation tests show a gene is the basic unit of function, though it can be divided into smaller functional units (cistrons). Alternative splicing further complicates the
Gene families and clusters
Gene families are sets of similar genes formed by duplication of an original gene. A gene cluster is a subgroup of a gene family where the genes are located near each other on a chromosome. Examples discussed include haemoglobin gene clusters, histone gene clusters, and ribosomal RNA gene clusters. Haemoglobin genes are expressed at different developmental stages. Myoglobin is related to haemoglobin and encodes oxygen transport in muscle. Histone genes encode structural proteins that package DNA into nucleosomes. Ribosomal RNA genes are present in high copy numbers and encode components of ribosomes.
Gene ineractions jb
1) The document discusses various types of non-Mendelian gene interactions including incomplete dominance, co-dominance, supplementary interaction, complementary interaction, and epistasis.
2) In incomplete dominance, alleles are not completely dominant or recessive and produce an intermediate phenotype in heterozygotes, like pink flowers from red and white parents.
3) Co-dominance occurs when both alleles are fully expressed in heterozygotes, such as AB blood from alleles for A and B antigens.
4) Epistasis involves one gene masking the expression of another gene.
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Gene interaction
This document discusses gene interaction and different types of epistasis. It defines gene interaction as when the expression of one gene depends on the presence or absence of another gene. There are two main types of gene interaction - allelic/non-epistatic and non-allelic/epistatic. Epistasis refers to one gene masking or interfering with the expression of another gene. The document outlines and provides examples of different types of epistatic gene interactions, including dominant epistasis, recessive epistasis, dominant inhibitory epistasis, duplicate dominant epistasis, and duplicate recessive epistasis.
Interaction of genes: Epistasis, Codominance and incomplete dominance
RTM Nagpur University, Nagpur, B. Sc. Semester III, Paper II, 1.1: Interaction of genes: Epistasis, Codominance and incomplete dominance
Test Cross & Back cross
A test cross is performed to determine the genotype of a plant with dominant expression by crossing it with a recessive plant. A backcross involves breeding an F1 hybrid with one of its parents. A test cross identifies if a dominant phenotype is homozygous or heterozygous, while a backcross recovers the elite genotype of the parent and produces offspring genetically closer to the F1 hybrid's parents.
Mendel's law
The document summarizes Mendel's laws of inheritance based on his experiments with pea plants. It discusses Mendel's discovery of the laws of dominance, segregation, and independent assortment through monohybrid and dihybrid crosses. The law of dominance states that one trait will mask the other in hybrid offspring. The law of segregation explains that alleles separate during gamete formation so each gamete contains one allele. The law of independent assortment says that allele pairs assort independently, resulting in multiple allele combinations in offspring. Mendel's laws explained inheritance of traits for the first time.
Epistasis
Epistasis is a Greek word that means standing over .Bateson used it to describe the masking effect in 1909.
An interaction between a pair of loci in which the phenotype effect of one locus depends on the genotype at the second locus.
Genes whose phenotypes are ;
Expressed,epistatic.
Altered or suppressed hypostatic.
Genetic fine str. analysis & complementation
The concept of the gene has evolved over time based on experimental evidence:
1. Early views were that a gene equals one character (Mendel) or metabolic function (Garrod).
2. Experiments in the 1940s-50s showed genes encode enzymes or polypeptides.
3. Benzer's experiments in the 1950s-60s demonstrated that genes have fine structure and recombination can occur within genes, not just between genes. The nucleotide, not the gene, is the basic unit of genetic structure.
4. Complementation tests show a gene is the basic unit of function, though it can be divided into smaller functional units (cistrons). Alternative splicing further complicates the
Gene families and clusters
Gene families are sets of similar genes formed by duplication of an original gene. A gene cluster is a subgroup of a gene family where the genes are located near each other on a chromosome. Examples discussed include haemoglobin gene clusters, histone gene clusters, and ribosomal RNA gene clusters. Haemoglobin genes are expressed at different developmental stages. Myoglobin is related to haemoglobin and encodes oxygen transport in muscle. Histone genes encode structural proteins that package DNA into nucleosomes. Ribosomal RNA genes are present in high copy numbers and encode components of ribosomes.
Gene ineractions jb
1) The document discusses various types of non-Mendelian gene interactions including incomplete dominance, co-dominance, supplementary interaction, complementary interaction, and epistasis.
2) In incomplete dominance, alleles are not completely dominant or recessive and produce an intermediate phenotype in heterozygotes, like pink flowers from red and white parents.
3) Co-dominance occurs when both alleles are fully expressed in heterozygotes, such as AB blood from alleles for A and B antigens.
4) Epistasis involves one gene masking the expression of another gene.
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Gene interaction ppt
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Apart from the nucleus DNA is also found within another cellular organelle, the mitochondrion.
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- Numerical chromosomal aberrations occur when there are extra or missing chromosomes compared to the normal number, resulting in conditions like aneuploidy. Common aneuploidies include trisomy (extra chromosome), monosomy (missing chromosome), and tetrasomy (four of a chromosome).
- Polyploidy refers to organisms having more than two complete sets of chromosomes. Autopolyploidy involves multiple sets of the same genome, while allopolyploidy involves hybridization between species followed by chromosome doubling. Important natural and artificial allopolyploids include wheat, cotton, and triticale.
Gene interaction ns-w12
This document discusses several genetic patterns beyond Mendel's laws of inheritance, including incomplete dominance, codominance, multiple alleles, lethal alleles, sex-linked traits, cytoplasmic inheritance, genomic imprinting, anticipation, and environmental influences on traits. It provides examples for each pattern, such as pink flowers from incomplete dominance of red and white alleles or blood types from multiple alleles and codominance.
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Penetrance and expressivity refer to how likely and how strongly, respectively, a genetic trait is expressed in individuals. Penetrance is the proportion of individuals with a genotype who exhibit the associated phenotype, ranging from complete (100%) to incomplete. Expressivity refers to how strongly or uniformly a phenotype is manifested across an individual's body. A phenocopy is an environmentally induced phenotype that resembles a genetically determined trait but is not inherited. Diabetes has an incompletely penetrant genetic basis but treating it with insulin produces a phenocopy of the non-diabetic phenotype.
Back and test cross
1. A back cross is a cross between an F1 individual and one of its parents. A test cross is specifically a cross between an F1 individual and its homozygous recessive parent.
2. Back crosses and test crosses are important for determining genotypes, obtaining pure lines, and introducing desirable traits through successive crosses.
3. A test cross, unlike a general back cross, will result in a 1:1 ratio of dominant to recessive phenotypes in the F2 generation, allowing determination of genetic constitution.
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This PPT consists of 15 slides only explaining Pleiotropy. This is a phenomenon when one gene controls more than one trait , the traits may be related .Generally one gene's product acts for many reactions and so can affect more than one trait. Examples can be seen in pea Coloured flower and pigmentation in leaf axil, frizzle trait in chicken, fur colour and deafness in cats,Human pleiotropic traits are PKU,Sickle cell Anaemia. HOsyndrome , p53 gene etc
Gene interaction ppt
Gene interactions can occur between alleles at the same locus (intra-allelic) or between genes at different loci (inter-allelic). Intra-allelic interactions include complete dominance, incomplete dominance, codominance, and overdominance. Inter-allelic interactions include complementation where two dominant genes are required for expression, and epistasis where one gene masks the effects of another gene. Examples of epistasis discussed are dominant epistasis in fruit color of squash, and recessive epistasis in the Bombay phenotype in humans.
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Hormones act through two main mechanisms: binding to intracellular receptors or cell surface receptors linked to intracellular messengers. Steroid hormones like estrogen bind to nuclear receptors to influence gene expression, while tropic hormones activate cell membrane receptors coupled to messengers like cAMP or IP3/DAG. These messengers then activate intracellular kinase pathways to induce cellular responses.
sex linked inheritance, Sex Influence inheritance and sex limited characters
This document discusses sex-linked inheritance in genetics. It begins by defining key terms like autosomes, sex chromosomes, and sex-linked traits. It then provides examples of sex-linked traits in humans (color blindness), birds (plumage patterns), and Drosophila (white eye mutation). The rest of the document delves deeper into the mechanisms of different types of sex-linked inheritance patterns like X-linked recessive traits, sex-linked dominance, and criss-cross inheritance. It also discusses sex-influenced and sex-limited traits. In summary, the document provides a comprehensive overview of sex-linked genetics and inheritance patterns.
Genetic linkage
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Cell signaling involves the use of signaling molecules to transmit information between cells. These molecules can be classified as extracellular signals, like peptides, lipids, gases, and small hydrophilic molecules, or intracellular second messengers like cAMP and calcium. Extracellular signals bind to cell surface receptors and trigger intracellular pathways that regulate cell function and development. Signaling can occur through endocrine, paracrine, or autocrine pathways depending on the distance over which the signal acts. Important examples of signaling molecules discussed include peptide hormones, steroid hormones, prostaglandins, and nitric oxide. Intracellular signaling molecules like G proteins and protein kinases transmit and amplify extracellular signals within cells through the use of feedback loops and molecular switches. Breakdowns
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This document discusses lethal alleles, which are alleles that cause death in an organism. It defines lethal alleles and provides a brief history of their discovery through early studies of coat color inheritance in mice. The document outlines four types of lethal alleles: early onset alleles that cause death early in life, late onset alleles that cause death late in life, conditional alleles that only cause death under certain environmental conditions, and semi-lethal alleles that only kill some individuals, not all. It provides the example of the Y gene in mice, which causes a yellow coat color but is lethal when present in the homozygous dominant state (YY), though not in the heterozygous or recessive states.
Epistasis
This document discusses gene interactions and epistasis. It provides several examples of gene interactions that result in ratios other than the expected 9:3:3:1 ratio for dihybrid crosses. These include complementary gene action between two enzymes that produce a product, duplicate gene action where two genes encode redundant enzymes, and different forms of epistasis where one gene is masked by the other. Specific examples discussed include interactions governing pigment production in fruit flies and comb morphology in chickens.
Mendelian genetics power_point
- Gregor Mendel developed the basic principles of heredity through experiments breeding pea plants in the mid-1800s. He discovered the laws of dominance, segregation, and independent assortment.
- Mendel observed that traits such as seed shape, flower color, and plant height followed predictable patterns when passed from one generation to the next. His work established the foundations of classical/Mendelian genetics.
- Through his experiments, Mendel determined that heritable factors (now known as genes) are transmitted from parents to offspring in discrete units, and that these units assort and segregate independently during reproduction according to his laws.
Environmental Control Sex Determination
Reference
Moeller, Karla T., "Temperature-Dependent Sex Determination in Reptiles". Embryo Project Encyclopedia (2013-02-01). ISSN: 1940-5030
Morjan, Carrie L. 2003. “How Rapidly Can Maternal Behavior Affecting Primary Sex Ratio Evolve in a Reptile with Environmental Sex Determination ?”
Shine, Richard. 1999. “Why Is Sex Determined by Nest Temperature in Many Reptiles?” 14(5): 186–89.
Wapstra, Erik et al. 2006. “Maternal Basking Behavior Determines Offspring Sex in a Viviparous Reptile.” : 230–32.
Expressivity
expressivity definition, penetrance vs expressivity,, quantified example, qualitative expressivity, types of expressivity, waardenburg syndrome.
Bacterial Transposons
Bacterial transposons are mobile segments of DNA that can move within bacterial genomes. There are two main types: insertion sequences, which consist only of the DNA required for transposition; and composite transposons, which contain additional genes like antibiotic resistance genes flanked by insertion sequences. Transposons can move within genomes through replicative or conservative transposition and have played an important role in bacterial evolution and antibiotic resistance.
fundamentals of human genetics (dental).pptx
This document discusses genetics and its importance in dentistry. It covers several key points:
- The objectives are to understand the role of genetics in dental traits and diseases, as well as the dentist's role in the genetic cycle.
- There are different types of genes such as complementary, supplemental, duplicate, polymeric, and sex-linked genes.
- Inheritance patterns can be autosomal dominant/recessive, X-linked, multifactorial, or involve chromosomal anomalies.
- Understanding genetics facilitates identifying risk factors and tailoring prevention/treatment for individuals. Dentists can help in the genetic cycle by aiding in diagnosis, treatment, and prognosis.
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DNA methylation involves the addition of methyl groups to cytosine bases in DNA. It is an epigenetic process that plays an important role in normal development and diseases like cancer. Cytosine methylation occurs most widely and involves the addition of a methyl group to the C-5 position of cytosine. Methylation can repress gene expression by interfering with transcriptional protein binding or recruiting chromatin remodeling proteins. In cancer, aberrant methylation can lead to silencing of tumor suppressor genes or activation of oncogenes. Genomic imprinting involves differential gene expression based on parental origin through epigenetic mechanisms like methylation. Around 1% of genes show imprinting including IGF2 and H19. Imprinting errors
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The document discusses various genetic concepts including gene interactions, dominance, codominance, incomplete dominance, lethal alleles, sex-influenced traits, penetrance, expressivity, environmental influences, pleiotropy, epistasis, and uses examples like flower color in plants and coat color in animals to illustrate these concepts. It explains that epistasis occurs when an allele of one gene masks the expression of alleles at another gene locus and defines different types of epistatic interactions like dominant epistasis and recessive epistasis.
Mitochondrial inheritance
Mitochondrial Inheritance
Apart from the nucleus DNA is also found within another cellular organelle, the mitochondrion.
Each mitochondrion contains multiple copies of a double-stranded, circular DNA molecule of 16,569 base pairs.
This DNA has 37 genes out of which encodes 13 peptides that are subunits of proteins required for oxidative phosphorylation.
There is a complete set of 22 transfer RNAs and two ribosomal RNAs.
Trihybrid crosses
The document describes a trihybrid cross, which involves mating organisms that differ in three specific traits or gene loci. It provides an example of a trihybrid cross between parents P1 and F1, which results in offspring with nine possible phenotypes in a 9:3:3:1 ratio. The genotypes of the offspring are also presented, showing a 1:2:1:2:4:2:1:2:1 ratio. The document notes that trihybrid crosses are more complex than monohybrid or dihybrid crosses but can be calculated by applying Mendel's principles of segregation, independent assortment, and probability.
Presentation on Numerical Chromosomal Aberration
This document summarizes different types of chromosomal aberrations:
- Numerical chromosomal aberrations occur when there are extra or missing chromosomes compared to the normal number, resulting in conditions like aneuploidy. Common aneuploidies include trisomy (extra chromosome), monosomy (missing chromosome), and tetrasomy (four of a chromosome).
- Polyploidy refers to organisms having more than two complete sets of chromosomes. Autopolyploidy involves multiple sets of the same genome, while allopolyploidy involves hybridization between species followed by chromosome doubling. Important natural and artificial allopolyploids include wheat, cotton, and triticale.
Gene interaction ns-w12
This document discusses several genetic patterns beyond Mendel's laws of inheritance, including incomplete dominance, codominance, multiple alleles, lethal alleles, sex-linked traits, cytoplasmic inheritance, genomic imprinting, anticipation, and environmental influences on traits. It provides examples for each pattern, such as pink flowers from incomplete dominance of red and white alleles or blood types from multiple alleles and codominance.
Penetrance and expressivity.pdf
Penetrance and expressivity refer to how likely and how strongly, respectively, a genetic trait is expressed in individuals. Penetrance is the proportion of individuals with a genotype who exhibit the associated phenotype, ranging from complete (100%) to incomplete. Expressivity refers to how strongly or uniformly a phenotype is manifested across an individual's body. A phenocopy is an environmentally induced phenotype that resembles a genetically determined trait but is not inherited. Diabetes has an incompletely penetrant genetic basis but treating it with insulin produces a phenocopy of the non-diabetic phenotype.
Back and test cross
1. A back cross is a cross between an F1 individual and one of its parents. A test cross is specifically a cross between an F1 individual and its homozygous recessive parent.
2. Back crosses and test crosses are important for determining genotypes, obtaining pure lines, and introducing desirable traits through successive crosses.
3. A test cross, unlike a general back cross, will result in a 1:1 ratio of dominant to recessive phenotypes in the F2 generation, allowing determination of genetic constitution.
Pleiotropy
This PPT consists of 15 slides only explaining Pleiotropy. This is a phenomenon when one gene controls more than one trait , the traits may be related .Generally one gene's product acts for many reactions and so can affect more than one trait. Examples can be seen in pea Coloured flower and pigmentation in leaf axil, frizzle trait in chicken, fur colour and deafness in cats,Human pleiotropic traits are PKU,Sickle cell Anaemia. HOsyndrome , p53 gene etc
Gene interaction ppt
Gene interactions can occur between alleles at the same locus (intra-allelic) or between genes at different loci (inter-allelic). Intra-allelic interactions include complete dominance, incomplete dominance, codominance, and overdominance. Inter-allelic interactions include complementation where two dominant genes are required for expression, and epistasis where one gene masks the effects of another gene. Examples of epistasis discussed are dominant epistasis in fruit color of squash, and recessive epistasis in the Bombay phenotype in humans.
Hormone mechanism of action
Hormones act through two main mechanisms: binding to intracellular receptors or cell surface receptors linked to intracellular messengers. Steroid hormones like estrogen bind to nuclear receptors to influence gene expression, while tropic hormones activate cell membrane receptors coupled to messengers like cAMP or IP3/DAG. These messengers then activate intracellular kinase pathways to induce cellular responses.
sex linked inheritance, Sex Influence inheritance and sex limited characters
This document discusses sex-linked inheritance in genetics. It begins by defining key terms like autosomes, sex chromosomes, and sex-linked traits. It then provides examples of sex-linked traits in humans (color blindness), birds (plumage patterns), and Drosophila (white eye mutation). The rest of the document delves deeper into the mechanisms of different types of sex-linked inheritance patterns like X-linked recessive traits, sex-linked dominance, and criss-cross inheritance. It also discusses sex-influenced and sex-limited traits. In summary, the document provides a comprehensive overview of sex-linked genetics and inheritance patterns.
Genetic linkage
The document discusses genetic linkage and mapping in Drosophila melanogaster. It describes how Thomas Morgan showed that two genes, white eye (w) and miniature wing (m), are linked on the X chromosome through test crosses. Recombination between linked genes occurs through crossing over during meiosis. Genetic mapping uses recombination frequencies between genes to determine their relative positions and distances on chromosomes in map units (centimorgans). A three-point test cross can detect double crossovers and more accurately determine map distances between closely linked genes.
Signaling molecules
Cell signaling involves the use of signaling molecules to transmit information between cells. These molecules can be classified as extracellular signals, like peptides, lipids, gases, and small hydrophilic molecules, or intracellular second messengers like cAMP and calcium. Extracellular signals bind to cell surface receptors and trigger intracellular pathways that regulate cell function and development. Signaling can occur through endocrine, paracrine, or autocrine pathways depending on the distance over which the signal acts. Important examples of signaling molecules discussed include peptide hormones, steroid hormones, prostaglandins, and nitric oxide. Intracellular signaling molecules like G proteins and protein kinases transmit and amplify extracellular signals within cells through the use of feedback loops and molecular switches. Breakdowns
Lethal allele
This document discusses lethal alleles, which are alleles that cause death in an organism. It defines lethal alleles and provides a brief history of their discovery through early studies of coat color inheritance in mice. The document outlines four types of lethal alleles: early onset alleles that cause death early in life, late onset alleles that cause death late in life, conditional alleles that only cause death under certain environmental conditions, and semi-lethal alleles that only kill some individuals, not all. It provides the example of the Y gene in mice, which causes a yellow coat color but is lethal when present in the homozygous dominant state (YY), though not in the heterozygous or recessive states.
Epistasis
This document discusses gene interactions and epistasis. It provides several examples of gene interactions that result in ratios other than the expected 9:3:3:1 ratio for dihybrid crosses. These include complementary gene action between two enzymes that produce a product, duplicate gene action where two genes encode redundant enzymes, and different forms of epistasis where one gene is masked by the other. Specific examples discussed include interactions governing pigment production in fruit flies and comb morphology in chickens.
Mendelian genetics power_point
- Gregor Mendel developed the basic principles of heredity through experiments breeding pea plants in the mid-1800s. He discovered the laws of dominance, segregation, and independent assortment.
- Mendel observed that traits such as seed shape, flower color, and plant height followed predictable patterns when passed from one generation to the next. His work established the foundations of classical/Mendelian genetics.
- Through his experiments, Mendel determined that heritable factors (now known as genes) are transmitted from parents to offspring in discrete units, and that these units assort and segregate independently during reproduction according to his laws.
Environmental Control Sex Determination
Reference
Moeller, Karla T., "Temperature-Dependent Sex Determination in Reptiles". Embryo Project Encyclopedia (2013-02-01). ISSN: 1940-5030
Morjan, Carrie L. 2003. “How Rapidly Can Maternal Behavior Affecting Primary Sex Ratio Evolve in a Reptile with Environmental Sex Determination ?”
Shine, Richard. 1999. “Why Is Sex Determined by Nest Temperature in Many Reptiles?” 14(5): 186–89.
Wapstra, Erik et al. 2006. “Maternal Basking Behavior Determines Offspring Sex in a Viviparous Reptile.” : 230–32.
Expressivity
expressivity definition, penetrance vs expressivity,, quantified example, qualitative expressivity, types of expressivity, waardenburg syndrome.
Bacterial Transposons
Bacterial transposons are mobile segments of DNA that can move within bacterial genomes. There are two main types: insertion sequences, which consist only of the DNA required for transposition; and composite transposons, which contain additional genes like antibiotic resistance genes flanked by insertion sequences. Transposons can move within genomes through replicative or conservative transposition and have played an important role in bacterial evolution and antibiotic resistance.
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3. The causes of genetic disorders include gene mutations from environmental factors like chemical exposure. Symptoms vary depending on the disorder but can include developmental delays, organ issues, and neurological problems.
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This document discusses different types of gene interactions: lethal genes cause death when homozygous, pleiotropic genes control multiple traits, multiple alleles exist at a single gene locus, and epistatic genes suppress the expression of other genes. It provides examples like coat color in mice being determined by a lethal gene and sickle cell anemia affecting development through a pleiotropic gene. The document also defines the different types of epistasis and includes a diagram illustrating dominant and recessive epistasis.
Schizophrenia as a multifactorial disorder
Schizophrenia is a multifactorial disorder caused by the combined effects of multiple genes and environmental factors, rather than a single gene. It does not follow Mendelian patterns of inheritance. While relatives of those with schizophrenia have a slightly higher risk, the incidence is only around 2-4%, indicating multiple genetic and environmental contributions rather than single gene mutations. Studies examine genetic associations through single nucleotide polymorphisms (SNPs) to identify candidate genes that may increase risk or impact treatment response for schizophrenia as a complex, multifactorial condition.
Genetics and Health
This document discusses genetics and genetic disorders. It begins by defining genetics and describing early discoveries in genetics research. It then discusses the prevalence of genetic birth defects worldwide and in India. Several genetic disorders are described in more detail, including Down syndrome, neural tube defects, sickle cell anemia, and thalassemia. For each disorder, the document outlines causes and inheritance patterns, symptoms, prevalence, and treatment options. Throughout, it emphasizes the public health importance of understanding genetics and genetic disorders.
The practice of genetics in clinical medicine
This document discusses the increasing use of genetics in clinical medicine. It covers topics like germline alterations, genetic susceptibility to common diseases, the role of primary care physicians in genetics, and advances in genetic testing techniques. The importance of understanding a patient's family history and genetic risks is emphasized. Different patterns of genetic inheritance for various conditions are reviewed, along with examples of monogenic disorders and cancer syndromes. Emerging areas like pharmacogenomics and personalized medicine are also mentioned.
Amelogenesis Imperfecta
Enamel is defective in form or calcification as a result of hereditary and has an appearance ranging from essentially normal to extremely unsightly.
Also called Hereditary enamel dysplasia or Hereditary brown enamel or Hereditary brown opalescent teeth.
3 types
Hypoplastic
Hypocalcified
Hypomaturation
In radiographically, the overall shape of the teeth may or may not be normal depending upon the amount of enamel present on the tooth and the amount of occlusal & incisal wear.
Enamel appear totally absent or when present appear as thin layer, chiefly over the tips of cusp and on interproximal surface.
No treatment except for the improvement of cosmetic.X-Linked Recessive Disorders.
All sex-linked disorders are X-linked, and almost all are recessive
Usually expressed only in males
Rarely, due to random X-inactivation, a female will express disease, called manifesting heterozygotes.
Pattern Of Inheritance:
Disease usually passed on from carrier mother.
Expressed in male offspring, females are carriers.
Skipped generations are commonly seen.
In this case, Recurrence risk is half of sons are affected, half of the daughters are carriers.
Recurrence risk:
All the daughters are heterozygous carriers and all the sons are homozygous normal.
Autosomal Recessive Disorder
Largest category of Mendelian disorder
Usually does not affect the parent of the affected individual, but sibling may show the disease.
Complete penetrance is common.
Onset is frequently early in life.
Usually affect enzymatic proteins.
Pattern Of Inheritance:
Typical pattern is two heterozygous unaffected (carrier) parent.
The triat does not usually affect the parent, but siblings may show the disease
Siblings have one chance in four of being affected
Both sexes affected equally.
Autosomal Dominant Disorder:
Manifested in heterozygous states
At least one parent of index case is usually affected
Both males and females are affected.
Clinical feature can be modified by variation in penetrance and expressivity. Some individual inherit the mutant gene but are phenotpically normal. This is reffered to as “incomplete penetrance”.
In many condition the age of onset is delayed.
Inheritance Pattern:
Typical pattern is a heterozygous affected parent with a homozygous unaffected parent.
Every child has one chance in two of having the disease
Both sexes are affected equally.Autosomal Dominant.
Autosomal Recessive.
X-Linked Recessive.
X-Linked Dominant
Genetics in Epilepsy.pptx
This document discusses genetics of epilepsy and provides information on:
1. Over 140 epilepsy-associated genes have been identified and genetic discoveries have revealed diverse genetic mechanisms underlying epilepsy.
2. Current genetic testing can identify pathogenic variants in over 20-50% of epilepsy cases depending on the syndrome and presentation.
3. A wide range of cellular functions and pathways are implicated in genetic epilepsies including ion channels, neurotransmitter receptors, and genes regulating cell growth and synaptic function.
Genetics
The document provides information on various genetics concepts:
- Gregor Mendel established the foundations of genetics through his study of inheritance in pea plants. Genes located on chromosomes control inherited traits and can be dominant or recessive.
- DNA contains the genetic code and is composed of nucleotides with a double helix structure. Chromosomes contain DNA and genes which provide instructions for cell activities. Meiosis and mitosis are cell division processes.
- Genetic disorders can be caused by mutations, chromosomal abnormalities, or multifactorial influences. Carriers can be detected through genetic testing and counseling to help prevent and manage diseases. Newborn screening allows early detection and treatment of various genetic conditions.
Etiology and pathogenesis of heredity and congenital diseases presentation
This document discusses hereditary and congenital diseases. It defines hereditary disorders as being transmitted through generations in gametes from one's parents, while congenital diseases are present at birth but are not always genetic. It then covers Mendelian patterns of inheritance including autosomal dominant, recessive, and X-linked traits. Specific diseases are examined like Marfan syndrome, cystic fibrosis, familial hypercholesterolemia, phenylketonuria, and lysosomal storage diseases. The causes of these diseases are often traced to defects in structural proteins, enzymes, receptors, or channels due to mutations in single genes.
Genetic disorderr
It is about the genetic disorder, its type and examples of genetic disorder like sickle cell anemia, Alzheimer disease and Down's Syndrome
Similar to Gene interaction and diseases (20)
Introduction to genetic disorders, classification 26 10-2016
Introduction to genetic disorders, classification 26 10-2016
INTRODUCTION TO NUTRIGENETICS- GENES AND ITS FUNCTIONS
INTRODUCTION TO NUTRIGENETICS- GENES AND ITS FUNCTIONS
Etiology and pathogenesis of heredity and congenital diseases presentation
Etiology and pathogenesis of heredity and congenital diseases presentation
Recently uploaded
Mending Clothing to Support Sustainable Fashion_CIMaR 2024.pdf
Ozturkcan, S., Berndt, A., & Angelakis, A. (2024). Mending clothing to support sustainable fashion. Presented at the 31st Annual Conference by the Consortium for International Marketing Research (CIMaR), 10-13 Jun 2024, University of Gävle, Sweden.
Farming systems analysis: what have we learnt?.pptx
Presentation given at the official farewell of Prof Ken Gillet at Wageningen on 13 June 2024
Candidate young stellar objects in the S-cluster: Kinematic analysis of a sub...
Context. The observation of several L-band emission sources in the S cluster has led to a rich discussion of their nature. However, a definitive answer to the classification of the dusty objects requires an explanation for the detection of compact Doppler-shifted Brγ emission. The ionized hydrogen in combination with the observation of mid-infrared L-band continuum emission suggests that most of these sources are embedded in a dusty envelope. These embedded sources are part of the S-cluster, and their relationship to the S-stars is still under debate. To date, the question of the origin of these two populations has been vague, although all explanations favor migration processes for the individual cluster members. Aims. This work revisits the S-cluster and its dusty members orbiting the supermassive black hole SgrA* on bound Keplerian orbits from a kinematic perspective. The aim is to explore the Keplerian parameters for patterns that might imply a nonrandom distribution of the sample. Additionally, various analytical aspects are considered to address the nature of the dusty sources. Methods. Based on the photometric analysis, we estimated the individual H−K and K−L colors for the source sample and compared the results to known cluster members. The classification revealed a noticeable contrast between the S-stars and the dusty sources. To fit the flux-density distribution, we utilized the radiative transfer code HYPERION and implemented a young stellar object Class I model. We obtained the position angle from the Keplerian fit results; additionally, we analyzed the distribution of the inclinations and the longitudes of the ascending node. Results. The colors of the dusty sources suggest a stellar nature consistent with the spectral energy distribution in the near and midinfrared domains. Furthermore, the evaporation timescales of dusty and gaseous clumps in the vicinity of SgrA* are much shorter ( 2yr) than the epochs covered by the observations (≈15yr). In addition to the strong evidence for the stellar classification of the D-sources, we also find a clear disk-like pattern following the arrangements of S-stars proposed in the literature. Furthermore, we find a global intrinsic inclination for all dusty sources of 60 ± 20◦, implying a common formation process. Conclusions. The pattern of the dusty sources manifested in the distribution of the position angles, inclinations, and longitudes of the ascending node strongly suggests two different scenarios: the main-sequence stars and the dusty stellar S-cluster sources share a common formation history or migrated with a similar formation channel in the vicinity of SgrA*. Alternatively, the gravitational influence of SgrA* in combination with a massive perturber, such as a putative intermediate mass black hole in the IRS 13 cluster, forces the dusty objects and S-stars to follow a particular orbital arrangement. Key words. stars: black holes– stars: formation– Galaxy: center– galaxies: star formation
The debris of the ‘last major merger’ is dynamically young
The Milky Way’s (MW) inner stellar halo contains an [Fe/H]-rich component with highly eccentric orbits, often referred to as the
‘last major merger.’ Hypotheses for the origin of this component include Gaia-Sausage/Enceladus (GSE), where the progenitor
collided with the MW proto-disc 8–11 Gyr ago, and the Virgo Radial Merger (VRM), where the progenitor collided with the
MW disc within the last 3 Gyr. These two scenarios make different predictions about observable structure in local phase space,
because the morphology of debris depends on how long it has had to phase mix. The recently identified phase-space folds in Gaia
DR3 have positive caustic velocities, making them fundamentally different than the phase-mixed chevrons found in simulations
at late times. Roughly 20 per cent of the stars in the prograde local stellar halo are associated with the observed caustics. Based
on a simple phase-mixing model, the observed number of caustics are consistent with a merger that occurred 1–2 Gyr ago.
We also compare the observed phase-space distribution to FIRE-2 Latte simulations of GSE-like mergers, using a quantitative
measurement of phase mixing (2D causticality). The observed local phase-space distribution best matches the simulated data
1–2 Gyr after collision, and certainly not later than 3 Gyr. This is further evidence that the progenitor of the ‘last major merger’
did not collide with the MW proto-disc at early times, as is thought for the GSE, but instead collided with the MW disc within
the last few Gyr, consistent with the body of work surrounding the VRM.
Describing and Interpreting an Immersive Learning Case with the Immersion Cub...
Current descriptions of immersive learning cases are often difficult or impossible to compare. This is due to a myriad of different options on what details to include, which aspects are relevant, and on the descriptive approaches employed. Also, these aspects often combine very specific details with more general guidelines or indicate intents and rationales without clarifying their implementation. In this paper we provide a method to describe immersive learning cases that is structured to enable comparisons, yet flexible enough to allow researchers and practitioners to decide which aspects to include. This method leverages a taxonomy that classifies educational aspects at three levels (uses, practices, and strategies) and then utilizes two frameworks, the Immersive Learning Brain and the Immersion Cube, to enable a structured description and interpretation of immersive learning cases. The method is then demonstrated on a published immersive learning case on training for wind turbine maintenance using virtual reality. Applying the method results in a structured artifact, the Immersive Learning Case Sheet, that tags the case with its proximal uses, practices, and strategies, and refines the free text case description to ensure that matching details are included. This contribution is thus a case description method in support of future comparative research of immersive learning cases. We then discuss how the resulting description and interpretation can be leveraged to change immersion learning cases, by enriching them (considering low-effort changes or additions) or innovating (exploring more challenging avenues of transformation). The method holds significant promise to support better-grounded research in immersive learning.
Evidence of Jet Activity from the Secondary Black Hole in the OJ 287 Binary S...
Wereport the study of a huge optical intraday flare on 2021 November 12 at 2 a.m. UT in the blazar OJ287. In the binary black hole model, it is associated with an impact of the secondary black hole on the accretion disk of the primary. Our multifrequency observing campaign was set up to search for such a signature of the impact based on a prediction made 8 yr earlier. The first I-band results of the flare have already been reported by Kishore et al. (2024). Here we combine these data with our monitoring in the R-band. There is a big change in the R–I spectral index by 1.0 ±0.1 between the normal background and the flare, suggesting a new component of radiation. The polarization variation during the rise of the flare suggests the same. The limits on the source size place it most reasonably in the jet of the secondary BH. We then ask why we have not seen this phenomenon before. We show that OJ287 was never before observed with sufficient sensitivity on the night when the flare should have happened according to the binary model. We also study the probability that this flare is just an oversized example of intraday variability using the Krakow data set of intense monitoring between 2015 and 2023. We find that the occurrence of a flare of this size and rapidity is unlikely. In machine-readable Tables 1 and 2, we give the full orbit-linked historical light curve of OJ287 as well as the dense monitoring sample of Krakow.
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3:国家专业人才认证中心颁发入库证书
4:这个认证书并且可以归档倒地方
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6:个人职称评审加20分
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11.1 Role of physical biological in deterioration of grains.pdf
Storagedeteriorationisanyformoflossinquantityandqualityofbio-materials.
Themajorcausesofdeteriorationinstorage
•Physical
•Biological
•Mechanical
•Chemical
Storageonlypreservesquality.Itneverimprovesquality.
Itisadvisabletostartstoragewithqualityfoodproduct.Productwithinitialpoorqualityquicklydepreciates
(June 12, 2024) Webinar: Development of PET theranostics targeting the molecu...
(June 12, 2024) Webinar: Development of PET theranostics targeting the molecu...Scintica Instrumentation
Targeting Hsp90 and its pathogen Orthologs with Tethered Inhibitors as a Diagnostic and Therapeutic Strategy for cancer and infectious diseases with Dr. Timothy Haystead.CLASS 12th CHEMISTRY SOLID STATE ppt (Animated)
Description:
Dive into the fascinating realm of solid-state physics with our meticulously crafted online PowerPoint presentation. This immersive educational resource offers a comprehensive exploration of the fundamental concepts, theories, and applications within the realm of solid-state physics.
From crystalline structures to semiconductor devices, this presentation delves into the intricate principles governing the behavior of solids, providing clear explanations and illustrative examples to enhance understanding. Whether you're a student delving into the subject for the first time or a seasoned researcher seeking to deepen your knowledge, our presentation offers valuable insights and in-depth analyses to cater to various levels of expertise.
Key topics covered include:
Crystal Structures: Unravel the mysteries of crystalline arrangements and their significance in determining material properties.
Band Theory: Explore the electronic band structure of solids and understand how it influences their conductive properties.
Semiconductor Physics: Delve into the behavior of semiconductors, including doping, carrier transport, and device applications.
Magnetic Properties: Investigate the magnetic behavior of solids, including ferromagnetism, antiferromagnetism, and ferrimagnetism.
Optical Properties: Examine the interaction of light with solids, including absorption, reflection, and transmission phenomena.
With visually engaging slides, informative content, and interactive elements, our online PowerPoint presentation serves as a valuable resource for students, educators, and enthusiasts alike, facilitating a deeper understanding of the captivating world of solid-state physics. Explore the intricacies of solid-state materials and unlock the secrets behind their remarkable properties with our comprehensive presentation.
fermented food science of sauerkraut.pptx
This ppt contains the production of a fermented food name - sauerkraut
Anti-Universe And Emergent Gravity and the Dark Universe
Recent theoretical progress indicates that spacetime and gravity emerge together from the entanglement structure of an underlying microscopic theory. These ideas are best understood in Anti-de Sitter space, where they rely on the area law for entanglement entropy. The extension to de Sitter space requires taking into account the entropy and temperature associated with the cosmological horizon. Using insights from string theory, black hole physics and quantum information theory we argue that the positive dark energy leads to a thermal volume law contribution to the entropy that overtakes the area law precisely at the cosmological horizon. Due to the competition between area and volume law entanglement the microscopic de Sitter states do not thermalise at sub-Hubble scales: they exhibit memory effects in the form of an entropy displacement caused by matter. The emergent laws of gravity contain an additional ‘dark’ gravitational force describing the ‘elastic’ response due to the entropy displacement. We derive an estimate of the strength of this extra force in terms of the baryonic mass, Newton’s constant and the Hubble acceleration scale a0 = cH0, and provide evidence for the fact that this additional ‘dark gravity force’ explains the observed phenomena in galaxies and clusters currently attributed to dark matter.
The binding of cosmological structures by massless topological defects
Assuming spherical symmetry and weak field, it is shown that if one solves the Poisson equation or the Einstein field
equations sourced by a topological defect, i.e. a singularity of a very specific form, the result is a localized gravitational
field capable of driving flat rotation (i.e. Keplerian circular orbits at a constant speed for all radii) of test masses on a thin
spherical shell without any underlying mass. Moreover, a large-scale structure which exploits this solution by assembling
concentrically a number of such topological defects can establish a flat stellar or galactic rotation curve, and can also deflect
light in the same manner as an equipotential (isothermal) sphere. Thus, the need for dark matter or modified gravity theory is
mitigated, at least in part.
Authoring a personal GPT for your research and practice: How we created the Q...
Thematic analysis in qualitative research is a time-consuming and systematic task, typically done using teams. Team members must ground their activities on common understandings of the major concepts underlying the thematic analysis, and define criteria for its development. However, conceptual misunderstandings, equivocations, and lack of adherence to criteria are challenges to the quality and speed of this process. Given the distributed and uncertain nature of this process, we wondered if the tasks in thematic analysis could be supported by readily available artificial intelligence chatbots. Our early efforts point to potential benefits: not just saving time in the coding process but better adherence to criteria and grounding, by increasing triangulation between humans and artificial intelligence. This tutorial will provide a description and demonstration of the process we followed, as two academic researchers, to develop a custom ChatGPT to assist with qualitative coding in the thematic data analysis process of immersive learning accounts in a survey of the academic literature: QUAL-E Immersive Learning Thematic Analysis Helper. In the hands-on time, participants will try out QUAL-E and develop their ideas for their own qualitative coding ChatGPT. Participants that have the paid ChatGPT Plus subscription can create a draft of their assistants. The organizers will provide course materials and slide deck that participants will be able to utilize to continue development of their custom GPT. The paid subscription to ChatGPT Plus is not required to participate in this workshop, just for trying out personal GPTs during it.
ESA/ACT Science Coffee: Diego Blas - Gravitational wave detection with orbita...
ESA/ACT Science Coffee: Diego Blas - Gravitational wave detection with orbita...Advanced-Concepts-Team
Presentation in the Science Coffee of the Advanced Concepts Team of the European Space Agency on the 07.06.2024.
Speaker: Diego Blas (IFAE/ICREA)
Title: Gravitational wave detection with orbital motion of Moon and artificial
Abstract:
In this talk I will describe some recent ideas to find gravitational waves from supermassive black holes or of primordial origin by studying their secular effect on the orbital motion of the Moon or satellites that are laser ranged.Alternate Wetting and Drying - Climate Smart Agriculture
Alternate Wetting and Drying - Climate Smart AgricultureInternational Food Policy Research Institute- South Asia Office
PPT on Alternate Wetting and Drying presented at the three-day 'Training and Validation Workshop on Modules of Climate Smart Agriculture (CSA) Technologies in South Asia' workshop on April 22, 2024. Recently uploaded (20)
Mending Clothing to Support Sustainable Fashion_CIMaR 2024.pdf
Mending Clothing to Support Sustainable Fashion_CIMaR 2024.pdf
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Farming systems analysis: what have we learnt?.pptx
Candidate young stellar objects in the S-cluster: Kinematic analysis of a sub...
Candidate young stellar objects in the S-cluster: Kinematic analysis of a sub...
The debris of the ‘last major merger’ is dynamically young
The debris of the ‘last major merger’ is dynamically young
Tissue fluids_etiology_volume regulation_pressure.pptx
Tissue fluids_etiology_volume regulation_pressure.pptx
Describing and Interpreting an Immersive Learning Case with the Immersion Cub...
Describing and Interpreting an Immersive Learning Case with the Immersion Cub...
Evidence of Jet Activity from the Secondary Black Hole in the OJ 287 Binary S...
Evidence of Jet Activity from the Secondary Black Hole in the OJ 287 Binary S...
11.1 Role of physical biological in deterioration of grains.pdf
11.1 Role of physical biological in deterioration of grains.pdf
(June 12, 2024) Webinar: Development of PET theranostics targeting the molecu...
(June 12, 2024) Webinar: Development of PET theranostics targeting the molecu...
Anti-Universe And Emergent Gravity and the Dark Universe
Anti-Universe And Emergent Gravity and the Dark Universe
The binding of cosmological structures by massless topological defects
The binding of cosmological structures by massless topological defects
Authoring a personal GPT for your research and practice: How we created the Q...
Authoring a personal GPT for your research and practice: How we created the Q...
ESA/ACT Science Coffee: Diego Blas - Gravitational wave detection with orbita...
ESA/ACT Science Coffee: Diego Blas - Gravitational wave detection with orbita...
Juaristi, Jon. - El canon espanol. El legado de la cultura española a la civi...
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Alternate Wetting and Drying - Climate Smart Agriculture
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Gene interaction and diseases
- 1. GENE -INTERACTION AND DISEASES “MARIAM SAJID” (ESSENTIAL GENETICS) (2018-BI-006)
- 2. OUTLINE • Gene interaction • Mechanism of gene interaction • Types of gene interaction • Allelic and non-allelic gene interaction • Important forms of gene interaction • Epistasis • Disease
- 3. GENE INTERACTION • The contribution of genes to the phenotypic character are modified by interactions with other genes and environment.
- 4. MECHANISM OF GENE INTERACTION • Proteins (the end products of gene expression) • Gene interactions are interactions between proteins that are controlled by these genes.
- 5. TYPES OF GENE INTERACTION “Gene-Gene and Gene- Environment” – Interaction between allelic genes – Interaction between non-allelic genes How gene in interacted with the environment and chromosomes itself
- 6. ALLELIC AND NON-ALLELIC INTERACTION • Expression of a character is produced by interaction between alleles of a single gene, called Allelic gene interaction. • Expression of a character is produced by interaction between two or more genes, called Non- allelic gene interaction.
- 7. EPISTASIS • One gene or allele masking the phenotypic expression of the other genes or alleles in the interaction. • That gene or allele masking the effect is referred to as epistatic. • The other genes or alleles being masked are referred to as hypostatic.
- 8. IMPORTANT FORMS OF GENE INTERACTION 1. Typical Di-Hybrid Ratio (9:3:3:1) 2. Complementary (9:7) 3. Supplementary (9:3:4) 4. Polymerism (9:6:1) 5. Epistatis (12:3:1) 6. Inhibitory (13:3) 7. Duplicate (15:1) 8. Cumulative or Additive (1:4:6:4:1)
- 9. DISEASES Epistatic genes can make the disease less severe, or make it more severe. • Alzheimer's disease • Cystic fibrosis • Complex autoimmune diseases • Diabetes • Cardiovascular disease • Hypertension, autism • Cleft lip and/or palate • Schizophrenia • Other neurological disorders • Sporadic breast cancer, • Bladder cancer (other types of cancer)
- 10. ALZHEIMER'S DISEASE • Progressive neurodegenerative disorder (memory loss and dementia) • Gene called apolipoprotein e4 was associated with a higher risk of developing Alzheimer's disease • One or two copies of apolipoprotein e4 increase one's risk of Alzheimer's, • This suggested that other genes or gene-gene interactions were involved in the development of Alzheimer's.
- 11. DIABETES • Influenced by both epistatic and environmental factors. • Interactions have been detected between loci on chromosomes 2 and 15. • In patients with type II diabetes, interaction is between loci on chromosomes 1 and 10.
- 12. THANK YOU