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This document discusses polygenic inheritance and continuous variation. Polygenic traits are influenced by two or more genes and exhibit a wide range of overlapping phenotypes in a population, such as height, skin color, and intelligence. The additive model is presented, where dominant alleles each contribute equally to a quantitative trait like height, while recessive alleles make no contribution. The number of possible phenotypic classes increases with the number of gene pairs involved. Multifactorial and complex traits result from an interaction between genes and environmental factors, though determining these interactions can be difficult. Heritability estimates the genetic contribution to phenotypic variation by comparing relatives.
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Fragile X Syndrome
Fragile X syndrome is caused by mutations in the FMR1 gene located on the X chromosome. There are three main types of mutations - normal, premutation, and full mutation - defined by the number of CGG repeats in the FMR1 gene. A full mutation with over 200 CGG repeats causes methylation and silencing of the FMR1 gene, resulting in little or no production of the FMRP protein and causing the symptoms of fragile X syndrome. The document discusses the history, genetics, diagnosis, and effects of fragile X syndrome. It also presents a case study examining the results of prenatal testing for a pregnant woman.
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Based on the information provided, here are my responses:
- The inheritance pattern shown in this pedigree is autosomal recessive. Cystic fibrosis is caused by mutations in the CFTR gene and follows an autosomal recessive pattern of inheritance.
- III-1 is likely a carrier (heterozygous for a CF mutation). His wife is unlikely a carrier.
- III-2 and II-3 are also likely carriers since they each had an affected child but are unaffected themselves.
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2) It has several clinical presentations and classifications based on inheritance, age of onset, electrodiagnostic features, and genetic testing. The most common types are autosomal dominant demyelinating CMT1 and axonal CMT2.
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This document summarizes Fragile X syndrome. It is caused by a mutation on the FMR1 gene on the X chromosome, which normally produces a protein involved in brain development and function. Fragile X syndrome is characterized by intellectual disabilities and certain physical traits. While there is no cure, treatment aims to manage symptoms through educational and therapeutic interventions, as well as medication in some cases.
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The document discusses rabbit coat color inheritance which is determined by multiple alleles at a single gene locus. It provides examples of 4 alleles (C, cch, ch, c) that determine the rabbit's coat color. It then gives an example cross between a full brown rabbit (Cc h) and a chinchilla patterned rabbit (cch c) and asks what phenotypes would result.
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Fragile X syndrome is a genetic condition caused by a mutation on the X chromosome. It results in the silencing of the FMR1 gene and inability to produce the FMRP protein required for normal neural development. Symptoms include intellectual disabilities, distinct physical features like large ears and jaw, and behaviors such as anxiety, hyperactivity and autism. While there is no cure, treatment focuses on therapies to improve speech, motor skills, and behaviors, as well as medications to manage symptoms like attention issues. It is the most common inherited form of intellectual disability.
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Fragile X syndrome is a genetic condition caused by a mutation on the FMR1 gene on the X chromosome. This mutation causes the FMR1 gene to produce little to no fragile X mental retardation protein (FMRP), which is important for neural development. Those with over 200 CGG repeats on the FMR1 gene have the full mutation and typically experience intellectual disabilities and distinctive physical features. Treatment focuses on managing symptoms through therapies and medications that target issues like attention deficits or anxiety. Genetic counseling is recommended for families with a history of the syndrome.
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Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder.
PWS is relatively common with an estimated prevalence worldwide in the range of 1 in 10,000 to 30,000 individuals
Prader-Willi syndrome is due to absence of paternally expressed imprinted genes at 15q11.2-q13.
PWS was first described by Prader et al. in 1956 and it is the first recognized disorder related to genomic imprinting in humans.
PWS affects males and females with equal frequency and affects all races and ethnicities
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This document discusses several examples of traits that are controlled by multiple alleles rather than just two alleles. It describes human blood types which are controlled by the A, B, and O alleles. Coat color in rabbits is another example, with agouti, chinchilla, himalayan, and albino colors each denoting specific alleles. Sex-linked traits like hemophilia and color blindness are discussed along with examples of inheritance patterns and genetic crosses. Baldness is presented as a sex-influenced trait where the bald allele behaves dominantly in males due to higher testosterone levels.
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DiGeorge Syndrome is caused by a deletion on chromosome 22 which can lead to a variety of symptoms depending on severity such as weakness, failure to thrive, feeding difficulties, infections, and developmental delays. Diagnosis is based on laboratory tests detecting the chromosome 22 deletion and may be suspected due to facial features, heart defects, or low blood calcium. While there is no cure, treatments focus on managing specific issues through supplements, surgery, therapy, and early intervention to support development and quality of life. Prognosis varies but with proper care many can live long lives despite challenges from the disorder.
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Pedigree presentation
Based on the information provided, here are my responses:
- The inheritance pattern shown in this pedigree is autosomal recessive. Cystic fibrosis is caused by mutations in the CFTR gene and follows an autosomal recessive pattern of inheritance.
- III-1 is likely a carrier (heterozygous for a CF mutation). His wife is unlikely a carrier.
- III-2 and II-3 are also likely carriers since they each had an affected child but are unaffected themselves.
- The odds that IV-5 would have an affected son is 25% since each parent is a carrier. There is a 50% chance they would pass on a CF mutation to each child and a 25% chance both would
Hereditory peripheral neuropathy
This document discusses hereditary neuropathy, specifically Charcot-Marie-Tooth disease. It provides information on:
1) Charcot-Marie-Tooth disease is a group of disorders characterized by a chronic motor and sensory polyneuropathy caused by mutations that affect the structure and function of Schwann cells and peripheral neuron axons.
2) It has several clinical presentations and classifications based on inheritance, age of onset, electrodiagnostic features, and genetic testing. The most common types are autosomal dominant demyelinating CMT1 and axonal CMT2.
3) Management involves a multidisciplinary approach including physical therapy, orthotics, occupational therapy, and pain management, as there are currently
10. patterns of inheritance
Gregor Mendel's pea plant experiments in the mid-19th century laid the groundwork for genetics by demonstrating that traits are passed from parents to offspring via discrete units of inheritance called genes. The document defines genetic terminology like alleles, genotypes, phenotypes, dominant/recessive traits, and describes Mendel's laws of segregation and independent assortment. It also discusses sex-linked inheritance and variations like incomplete dominance and polygenic traits. Common human genetic disorders are reviewed including examples like sickle cell disease, cystic fibrosis, and Duchenne muscular dystrophy.
Angelman syndrome
This document provides information about Angelman Syndrome, a rare genetic disorder caused by defects on chromosome 15. It affects 1 in 15,000 people and causes developmental delays, seizures, lack of speech, and frequent smiling/laughter. The disorder results from errors in genes on the maternal chromosome. Researchers are working to find treatments, with some success curing AS in mice. Foundations like FAST and ASF provide support for families and fund research seeking a cure. The document concludes with one family's story of receiving an AS diagnosis for their son Joey and their determination to help find a cure.
Fragile X presentation
This document summarizes Fragile X syndrome. It is caused by a mutation on the FMR1 gene on the X chromosome, which normally produces a protein involved in brain development and function. Fragile X syndrome is characterized by intellectual disabilities and certain physical traits. While there is no cure, treatment aims to manage symptoms through educational and therapeutic interventions, as well as medication in some cases.
Mitochondrial Disorder
Mitochondrial diseases are caused by defects in the mitochondria or mitochondrial genome. The mitochondria produce energy in cells through oxidative phosphorylation and have important roles in calcium regulation, apoptosis, and reactive oxygen species generation. Mitochondrial DNA mutations can cause a variety of clinical syndromes affecting high-energy tissues like brain, muscle, heart. Common syndromes include MELAS, MERRF, and Leigh syndrome. Diagnosis involves assessing clinical features, blood/CSF lactate levels, muscle biopsy showing ragged red fibers, and genetic testing. Treatment focuses on managing symptoms while avoiding metabolic stress.
Alleles
The document discusses rabbit coat color inheritance which is determined by multiple alleles at a single gene locus. It provides examples of 4 alleles (C, cch, ch, c) that determine the rabbit's coat color. It then gives an example cross between a full brown rabbit (Cc h) and a chinchilla patterned rabbit (cch c) and asks what phenotypes would result.
Non-Mendellian genetics
This document discusses several non-Mendelian patterns of inheritance including lack of dominance where the heterozygous phenotype differs from the homozygous phenotypes, multiple alleles where a single gene can have more than two alleles, pleiotropy where a single gene influences multiple traits, lethal genes which cause death, sex-linked inheritance determined by genes on sex chromosomes, gene interactions between two or more genes, complementary genes which act together to determine a trait, epistasis where one gene inhibits another, polygenic inheritance where multiple genes influence a trait, and pedigree analysis to trace traits within a family.
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This document provides definitions and explanations of key genetic terminology used in clinical genetics and molecular biology. It defines terms like genome, genotype, phenotype, karyotype, gene, allele, dominant, recessive, carrier, X-linked, and trait. It also describes patterns of inheritance including Mendelian patterns like autosomal recessive, autosomal dominant, X-linked recessive and X-linked dominant. Non-Mendelian inheritance patterns such as mitochondrial inheritance, germ cell mosaicism, uniparental disomy, and triplet repeat expansion disorders are also summarized. Examples of genetic disorders that follow different inheritance patterns are provided throughout.
Fragile x syndrome
Fragile X syndrome is a genetic condition caused by a mutation on the X chromosome. It results in the silencing of the FMR1 gene and inability to produce the FMRP protein required for normal neural development. Symptoms include intellectual disabilities, distinct physical features like large ears and jaw, and behaviors such as anxiety, hyperactivity and autism. While there is no cure, treatment focuses on therapies to improve speech, motor skills, and behaviors, as well as medications to manage symptoms like attention issues. It is the most common inherited form of intellectual disability.
Fragile x syndrome
Fragile X syndrome is a genetic condition caused by a mutation on the FMR1 gene on the X chromosome. This mutation causes the FMR1 gene to produce little to no fragile X mental retardation protein (FMRP), which is important for neural development. Those with over 200 CGG repeats on the FMR1 gene have the full mutation and typically experience intellectual disabilities and distinctive physical features. Treatment focuses on managing symptoms through therapies and medications that target issues like attention deficits or anxiety. Genetic counseling is recommended for families with a history of the syndrome.
Prader willi
Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder.
PWS is relatively common with an estimated prevalence worldwide in the range of 1 in 10,000 to 30,000 individuals
Prader-Willi syndrome is due to absence of paternally expressed imprinted genes at 15q11.2-q13.
PWS was first described by Prader et al. in 1956 and it is the first recognized disorder related to genomic imprinting in humans.
PWS affects males and females with equal frequency and affects all races and ethnicities
Multiple allele - Genetics
This document discusses several examples of traits that are controlled by multiple alleles rather than just two alleles. It describes human blood types which are controlled by the A, B, and O alleles. Coat color in rabbits is another example, with agouti, chinchilla, himalayan, and albino colors each denoting specific alleles. Sex-linked traits like hemophilia and color blindness are discussed along with examples of inheritance patterns and genetic crosses. Baldness is presented as a sex-influenced trait where the bald allele behaves dominantly in males due to higher testosterone levels.
Di george syndrome (dgs)
DiGeorge Syndrome is caused by a deletion on chromosome 22 which can lead to a variety of symptoms depending on severity such as weakness, failure to thrive, feeding difficulties, infections, and developmental delays. Diagnosis is based on laboratory tests detecting the chromosome 22 deletion and may be suspected due to facial features, heart defects, or low blood calcium. While there is no cure, treatments focus on managing specific issues through supplements, surgery, therapy, and early intervention to support development and quality of life. Prognosis varies but with proper care many can live long lives despite challenges from the disorder.
Krabbe Disease
Millie, a 3 month old girl, was brought to the pediatrician with issues feeding, irritability, and muscle spasms. Tests found she had no GALC enzyme activity and an MRI showed demyelination. She was diagnosed with Krabbe disease, a rare inherited disorder caused by mutations in the GALC gene resulting in myelin loss and impaired nervous system development. There is currently no approved treatment, but research is exploring inhibitors of enzymes involved in the disease process.
Genetic counseling
Genetic counseling is a process that involves assessing individual or family risk for a genetic disorder, explaining options, and providing support. A genetic counselor reviews family history, medical records, determines disease risk, explains hereditary concepts, arranges for genetic testing, and provides guidance and referrals. They assist with informed decision making regarding pregnancy, screening, and management options. Areas of practice include cancer, pediatric care, prenatal testing, and screening for inherited metabolic disorders. New technologies allow for expanded multi-gene panel testing to efficiently screen for multiple conditions.
10.3 polygenic inheritance
Polygenic inheritance involves multiple genes contributing to a trait, as opposed to single-gene inheritance. It can result in continuous variation, where a wide range of phenotypes exist between extremes. Human skin color and wheat seed color are examples of polygenic traits that show continuous variation, with skin color determined by 3-4 genes influencing melanin production and seed color by 3 genes determining red pigment levels.
Presentation1.pptx, imaging of genetic diseases. (3)
This document summarizes different types of genetic diseases including their classification, inheritance patterns, and examples. It discusses disorders caused by mutations in single genes including autosomal dominant, autosomal recessive, and X-linked conditions. Specific genetic diseases are explained such as neurofibromatosis, cystic fibrosis, and lysosomal storage disorders. The document also covers disorders associated with defects in enzymes, structural proteins, receptors, and genes that regulate cell growth.
Fragile x Syndrome
Fragile X syndrome is caused by the expansion of the CGG trinucleotide repeat on the X chromosome, which results in failure to express the FMR1 protein needed for normal neural development. It is the most common inherited cause of intellectual disability and can also cause autism spectrum disorder. While there is no cure, treatment focuses on behavioral therapy and special education.
Familial hypercholesterolemia
Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder characterized by highly elevated cholesterol levels and premature cardiovascular disease. If left untreated, those with heterozygous FH typically develop heart disease before age 55-60, while homozygotes develop heart disease in early life and die before age 20. Treatment involves intensive lifestyle management and maximum statin therapy to lower cholesterol levels, with additional drugs like ezetimibe as needed. For severe cases, lipoprotein apheresis can help lower cholesterol. Children with FH should be screened between ages 2-10 and treated early with statins to prevent heart disease later in life.
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Presentation1.pptx, imaging of genetic diseases. (3)
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2014 quantitativetrait
This document discusses quantitative traits, which are traits influenced by multiple genes and the environment, resulting in continuous variation in phenotypes rather than discrete categories. It provides examples of quantitative traits like height and explains how Mendelian genetics can still underlie such traits. For example, wheat kernel color is influenced by three genes, with partial dominance of alleles resulting in a quantitative distribution of colors in offspring. The document also discusses statistics used to describe and analyze quantitative traits, like mean, variance, and heritability.
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Polygenic inheritance involves multiple genes contributing to a phenotypic trait. Traits like human height and skin color are influenced by several genes and show continuous variation across populations. Key aspects of polygenic inheritance include additive effects of alleles, environmental influences, and traits following a bell-shaped curve of distribution in a population. Polygenic inheritance explains quantitative traits and is important for population variation and evolution of species.
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Gene interaction can be additive or non-additive. Non-additive gene action includes dominance variance from heterozygote deviations and epistatic variance from gene interactions. A study of okra lines found non-additive gene action for several traits like flowering time and fruit characteristics, while additive gene action governed traits like fruit weight. A maize study found non-additive effects including overdominance controlled traits like height, flowering time, and yield, indicating potential for exploiting heterosis.
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Assignment DetailsOpen DateApr 2, 2018 1205 AM.docx
Assignment Details
Open Date
Apr 2, 2018 12:05 AM
Graded?
Yes
Points Possible
100.0
Resubmissions Allowed?
No
Attachments checked for originality?
Yes
Top of Form
Assignment Instructions
Develop a chart or diagram that will illustrate how prenatal development is influenced by environmental or genetic factors. Creativity is strongly suggested. There is no requirement for APA format in this assignment. There is no requirement of references for this assignment.
Supporting Materials
·
308 Assignment 2. Rubric.doc
(50 KB)
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Nature and Nurture: Genetic and Environmental Foundations of Child Development
Child development is impacted by both genetic or inherited factors and environmental factors. Genetic factors are inherited from both parents at the time of conception, but can be the result of different types of gene interactions. Environmental factors impact different ways families function and children develop. Environmental factors include the ecological systems that may alter family function, socio-economic status and cultural values and public policy.
TOPICS COVERED WILL INCLUDE:
· Genetics
· Family functioning from an ecological systems perspective
· The impact of
socioeconomic status
· Cultural values and public policies
“
Toddler hopscotch
” by
Ilya Haykinson
is licensed under
CC BY 2.0
The Influence of Alleles
In the argument over nature versus nurture in child development, nature is determined by genes passed down from parent to child during conception. Both parents pass genetic traits to their offspring, but different offspring may acquire different traits from each parent. Why do some children in one family have similar characteristics or appearances and yet other children in the same family look very different? The answer lies in the interaction of genes inherited from the mother and father.
Genes and alleles influence the inheritance of traits, through dominant–recessive inheritance, incomplete dominance, X-linked inheritance, genomic imprinting,
mutation
, and
polygenic inheritance
. In order to understand genetic inheritance, you need to understand the basics of how genes work, and how they work together with one another.
Fundamental Definitions
Understanding the basic structures and elements of genetics is essential to recognize how various traits are inherited, from appearance to intelligence.
GENE
The basic building block of the study of genetics is the gene; a gene is a single unit of genetic information.
CHROMOSOME
A chromosome is a threadlike strand of DNA encoded with a large number of genes. Humans receive 23 chromosomes from each parent, for a total of 46 chromosomes.
ALLELE
An
allele
is one of a pair of genes that appear at a particular location on a particular chromosome and control the same characteristics in the individual. Humans have two alleles, one from each parent, at each genetic locus, or position, on a chromosome.
GENOTYPE
The entire ...
Relevance of epistasis in plant breeding
This document discusses the relevance of epistasis, or gene interactions, in plant breeding. It begins with the historical perspectives on epistasis and how it was initially observed in the early 1900s. It then discusses different types of epistatic interactions based on Mendelian genetics and their molecular basis in gene networks and pathways. The document also examines epistasis in quantitative genetics, how it affects statistical parameters and can influence evolution. Implications for plant breeding are discussed, such as how epistasis impacts heterosis, inbreeding depression, genetic parameters, and selection strategies. Evidence for epistasis from quantitative trait loci mapping studies is also reviewed.
Assignment DetailsOpen DateApr 2, 2018 1205 AMGradedYes.docx
Assignment Details
Open Date
Apr 2, 2018 12:05 AM
Graded?
Yes
Points Possible
100.0
Resubmissions Allowed?
No
Attachments checked for originality?
Yes
Top of Form
Assignment Instructions
Develop a chart or diagram that will illustrate how prenatal development is influenced by environmental or genetic factors. Creativity is strongly suggested. There is no requirement for APA format in this assignment. There is no requirement of references for this assignment.
Supporting Materials
· 308 Assignment 2. Rubric.doc (50 KB)
Bottom of Form
Nature and Nurture: Genetic and Environmental Foundations of Child Development
Child development is impacted by both genetic or inherited factors and environmental factors. Genetic factors are inherited from both parents at the time of conception, but can be the result of different types of gene interactions. Environmental factors impact different ways families function and children develop. Environmental factors include the ecological systems that may alter family function, socio-economic status and cultural values and public policy.
TOPICS COVERED WILL INCLUDE:
· Genetics
· Family functioning from an ecological systems perspective
· The impact of socioeconomic status
· Cultural values and public policies
“Toddler hopscotch” by Ilya Haykinson is licensed under CC BY 2.0
The Influence of Alleles
In the argument over nature versus nurture in child development, nature is determined by genes passed down from parent to child during conception. Both parents pass genetic traits to their offspring, but different offspring may acquire different traits from each parent. Why do some children in one family have similar characteristics or appearances and yet other children in the same family look very different? The answer lies in the interaction of genes inherited from the mother and father.
Genes and alleles influence the inheritance of traits, through dominant–recessive inheritance, incomplete dominance, X-linked inheritance, genomic imprinting, mutation, and polygenic inheritance. In order to understand genetic inheritance, you need to understand the basics of how genes work, and how they work together with one another.
Fundamental Definitions
Understanding the basic structures and elements of genetics is essential to recognize how various traits are inherited, from appearance to intelligence.
GENE
The basic building block of the study of genetics is the gene; a gene is a single unit of genetic information.
CHROMOSOME
A chromosome is a threadlike strand of DNA encoded with a large number of genes. Humans receive 23 chromosomes from each parent, for a total of 46 chromosomes.
ALLELE
An allele is one of a pair of genes that appear at a particular location on a particular chromosome and control the same characteristics in the individual. Humans have two alleles, one from each parent, at each genetic locus, or position, on a chromosome.
GENOTYPE
The entire genetic makeup of an individual is called the genotype. The geno ...
varieties of gene interaction(220705180035).pptx
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.
Gene action in breeding plants
Introduction,Gene action
in
breeding plants,
main feature, types of gene acttion
plant breeding
Genetics: Complex traits (Quantitative traits)
Mendelian genetics put forward the concept of dominant and recessive traits, where the phenotypes are controlled by single genes. These traits are known as monogenic or Mendelian traits.
There are features or traits in human genetics which are controlled by multiple genes and whose inheritance does not follow the rules of Mendelian genetics. Such traits are known as complex traits.
Day2 145pm Crawford
This document outlines key concepts for designing genetic association studies, including study design, analysis methods, and replication. It discusses factors like sample size calculations, candidate gene vs. genome-wide approaches, analysis of single nucleotide polymorphisms (SNPs) versus haplotypes, multiple testing corrections, and the importance of replication in independent studies. Statistical methods covered include regression, adjusting for population stratification, and software for analyzing candidate genes and genome-wide data.
Heratability, genetic advance, Genotype xEnviromental interaction
1) The document discusses concepts of heritability, genetic advance, and genotype-environment interaction which are important in plant breeding. It defines heritability as the ratio of genetic to phenotypic variance and explains broad and narrow sense heritability.
2) Genetic advance is the improvement in mean genotypic value from selection and depends on genetic variability, heritability, and selection intensity. High genetic advance indicates additive gene control.
3) Genotype-environment interaction refers to differences in genotype performance across environments. Quantitative interaction involves differences in scale while qualitative/crossover interaction involves changes in rank. Low interaction is desirable.
Genetics of animal breeding 9
This document discusses genetics and animal breeding. It explains how genetics relates to livestock improvement and describes cell division, inheritance of traits, and genetic principles like dominance, sex determination, linkage and mutation. Additive gene effects from many genes cumulatively influence economically important quantitative traits like growth and milk production, while non-additive genes control fewer qualitative traits. Heritability estimates the proportion of variation due to genetics. Selection of superior breeding stock relies on performance records and expected progeny differences to make genetic progress over generations.
Genetics of animal breeding 9
This document discusses genetics and animal breeding. It explains how genetics relates to livestock improvement and describes cell division, transmission of animal characteristics, and sex determination. Additive and non-additive gene effects are described, as well as selection of breeding stock using methods like tandem selection, independent culling levels, and selection indexes. Dominant and recessive genes, homozygous and heterozygous genotypes, and basic genetic crosses are explained. Sex linkage, linkage, crossover, and mutation are also summarized.
Genetics From Genes to Genomes 6th Edition hartwell Solutions Manual
Full download : https://alibabadownload.com/product/genetics-from-genes-to-genomes-6th-edition-hartwell-solutions-manual/
Genetics From Genes to Genomes 6th Edition hartwell Solutions Manual
heritabilitygeneticadvance.pptx
Heritability, genetic advance, and genotype-environment interaction are important concepts in plant breeding. Heritability refers to the proportion of phenotypic variation attributable to genetic factors and is estimated based on genotypic and phenotypic variances. High heritability traits can be effectively selected for, while low heritability traits are more influenced by the environment. Genetic advance measures genetic improvement from selection and depends on heritability, genetic variability, and selection intensity. Genotype-environment interaction occurs when genotypes respond differently to varying environments and can be quantitative or qualitative. Quantitative interactions affect trait expression uniformly across environments, while qualitative interactions change trait rankings between environments.
Similar to 17465299.ppt (20)
Assignment DetailsOpen DateApr 2, 2018 1205 AM.docx
Assignment DetailsOpen DateApr 2, 2018 1205 AM.docx
Assignment DetailsOpen DateApr 2, 2018 1205 AMGradedYes.docx
Assignment DetailsOpen DateApr 2, 2018 1205 AMGradedYes.docx
Heratability, genetic advance, Genotype xEnviromental interaction
Heratability, genetic advance, Genotype xEnviromental interaction
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17465299.ppt
- 1. Polygenic Inheritance Inherited traits that are controlled by two or more genes Examples in humans include: Height Skin color Eye color Intelligence Polygenic traits tend to exhibit continuous variation with respect to phenotypes in a population.
- 2. Discontinuous Variation Phenotypes usually controlled by one pair of genes - single gene inheritance Has two distinct phenotypic classes that do not overlap
- 3. Continuous Variation Phenotypes usually controlled by two or more pairs of genes - polygenic inheritance Has many phenotypic classes that overlap
- 5. Characteristics of Polygenic Inheritance Traits usually quantified by measurement rather than counting. Genes (2 or more) contribute to the phenotype in a small but additive way. Some, however, will make no contribution to the phenotype. Variation is analyzed in populations, not individuals.
- 7. Additive Model for Polygenic Inheritance Trait controlled by two or more genes Dominant alleles make an equal contribution to phenotype Recessive alleles make no contribution Genes controlling traits are not linked Example: 3 genes with two alleles A, a, B, b, C, c
- 8. Additive Model for Polygenic Inheritance Trait = Height Base height = 5 ft. Each dominant allele add 3 inches to base height Recessive alleles make no contribution Genes controlling traits are not linked Example: 3 genes with two alleles: A, a, B, b, C, c What is the height for individuals: AAbbCc ? aaBbCc ? AABBCC ? aaBbcc ?
- 9. Additive Model for Polygenic Inheritance Trait = Height Using same genetic information: What are the possible phenotypes (and their probabilities) for children of the following parents? AABBCC X aabbcc AaBbCC X AaBBcc For Parents: AaBbCc X AabbCc • How many children will be aaBbCC ? • aaBBCc ? • How many children will be 6’3” ? • 5’3” ? • 6’6” ?
- 10. No.# of genes vs. No.# of phenotypic classes Two (2) pairs of genes 1. AABB 2. AABb or AaBB 3. AAbb or aaBB or AaBb 4. Aabb or aaBb 5. aabb = 5 phenotypic Classes Phenotypic Classes: 1 2 3 4 5
- 11. No.# of genes vs. No.# of phenotypic classes 3 pairs of genes AABBCC AABBCc etc. AABBcc etc. AABbcc etc. AAbbcc etc. Aabbcc etc. aabbcc = 7 phenotypic Classes 1 2 3 4 5 6 7
- 12. No.# of genes vs. No.# of phenotypic classes 4 pairs of genes? = 9 phenotypic Classes
- 13. Multifactorial Traits Traits that result from the interaction of one or more environmental factors and two or more genes.
- 14. Complex Traits Multifactorial traits in which the relative contributions of environmental vs. genetic factors are not well established. Examples: Cardiovascular disease, breast cancer, bipolar affective disorder, cleft palate, dyslexia, diabetes mellitus, hypertension, migraines, neural tube defects, schizophrenia, seizure disorders, intelligence
- 15. Studying Multifactorial Traits How do genotypes and environmental factors interact? (hard to predict in general population) Family studies aid in determining such interaction (due to known levels of genetic relatedness)
- 16. Heritability Estimates the contribution of genotype on the expressed phenotype Uses known level of genetic relatedness in families and measured phenotypic variation Produces a value (H) that estimates the phenotypic variability caused by genetic differences Example: H=96% for Fingerprint TRC
- 17. Twin vs. Adoption Studies Can be used to estimate heritability Identical Twins - separated at birth Share same genotype Do not share same environment Adoptions (along with natural children) Share same environment Do not share same genotype
- 18. Threshold Model Used to explain discontinuous distribution of a multifactorial trait (e.g. cleft palate, club foot) cleft palate club foot
- 19. Threshold Model Liability: distributed as a bell-shaped curve (consistent with polygenic trait) Liability: caused by number of genes (which contribute in an additive fashion) and environmental factors Phenotypic expression is achieved only if a certain threshold is reached Frequency