Question 1

What is population stratification?

Accepted Answer

A)  Separation of a cohort into cases and controls 
B)  Separation of a cohort by ethnicity 
C)  A false positive association due to the presence of unrecognized subpopulations in a cohort 
D)  The use of subsets of a cohort in both family-based and case-control association studies 
E)  A false negative study due to heterogeneity in a cohort 
A)  Separation of a cohort into cases and controls 
B)  Separation of a cohort by ethnicity 
C)  A false positive association due to the presence of unrecognized subpopulations in a cohort 
D)  The use of subsets of a cohort in both family-based and case-control association studies 
E)  A false negative study due to heterogeneity in a cohort C

Question 2

Which of the following is NOT true of familial aggregation of a trait?

Accepted Answer

A)  One should compare the clustering of the trait in affected families compared to the general population 
B)  Family clustering proves there is a genetic contribution to the trait 
C)  Increased trait sharing in monozygotic compared to dizygotic twins suggests a genetic contribution to the trait 
D)  Traits with a genetic liability will show familial aggregation 
E)  These studies can be plagued by ascertainment bias 
A)  One should compare the clustering of the trait in affected families compared to the general population 
B)  Family clustering proves there is a genetic contribution to the trait 
C)  Increased trait sharing in monozygotic compared to dizygotic twins suggests a genetic contribution to the trait 
D)  Traits with a genetic liability will show familial aggregation 
E)  These studies can be plagued by ascertainment bias B

Question 3

For multifactorial traits,how would the liability threshold model predict that a second affected child in a family would alter risk estimates for future pregnancies?

Accepted Answer

A)  The risk estimate would increase 
B)  The risk estimate would decrease 
C)  The risk estimate would remain the same 
D)  The chances would be exceedingly small that there would be a third affected child 
A)  The risk estimate would increase 
B)  The risk estimate would decrease 
C)  The risk estimate would remain the same 
D)  The chances would be exceedingly small that there would be a third affected child A

Question 4

Which model attempts to explain the etiology of discontinuous multifactorial traits?

Accepted Answer

A)  Random segregation model 
B)  Hardy-Weinberg model 
C)  Liability threshold model 
D)  Additive trait model 
E)  Multiplicative trait model 
A)  Random segregation model 
B)  Hardy-Weinberg model 
C)  Liability threshold model 
D)  Additive trait model 
E)  Multiplicative trait model

Question 5

Compared to standard linkage analysis methods,what is an advantage of the affected sib pair method for gene hunting in complex traits?

Accepted Answer

A)  Smaller samples are required 
B)  You can use two affected individuals from one family 
C)  No model specification is required for the mode of inheritance 
D)  Siblings who are discordant for the trait provide information for the analysis 
E)  Fewer markers need to be genotyped 
A)  Smaller samples are required 
B)  You can use two affected individuals from one family 
C)  No model specification is required for the mode of inheritance 
D)  Siblings who are discordant for the trait provide information for the analysis 
E)  Fewer markers need to be genotyped

Question 6

Multifactorial,quantitative traits often show which type of distribution in a population?

Accepted Answer

A)  Normal 
B)  Uniform 
C)  Bernoulli 
D)  Random 
E)  Bimodal 
A)  Normal 
B)  Uniform 
C)  Bernoulli 
D)  Random 
E)  Bimodal

Question 7

One goal of the International HapMap project is to identify which of the following?

Accepted Answer

A)  Large families for linkage analysis 
B)  The complete set of SNPs in the human population 
C)  A genome-wide set of tag SNPs 
D)  All possible haplotypes in the human population 
E)  The complete genome sequence in a set of individuals from various regions of the world 
A)  Large families for linkage analysis 
B)  The complete set of SNPs in the human population 
C)  A genome-wide set of tag SNPs 
D)  All possible haplotypes in the human population 
E)  The complete genome sequence in a set of individuals from various regions of the world

Question 8

In a genetic association study,what does an odds ratio represent?

Accepted Answer

A)  The ratio of those with a particular allele who manifest a trait versus those with the allele who do not manifest the trait 
B)  The risk of manifesting a trait in those with a particular allele compared to the risk of manifesting the trait in those without the allele 
C)  The risk of the trait in those with the major allele versus the risk in those with the minor allele 
D)  The genetic risk that you will have a particular trait versus the environmental risk that you will have the same trait 
E)  The likelihood that someone with both genetic and environmental risks will express a trait versus the likelihood when they have neither risk 
A)  The ratio of those with a particular allele who manifest a trait versus those with the allele who do not manifest the trait 
B)  The risk of manifesting a trait in those with a particular allele compared to the risk of manifesting the trait in those without the allele 
C)  The risk of the trait in those with the major allele versus the risk in those with the minor allele 
D)  The genetic risk that you will have a particular trait versus the environmental risk that you will have the same trait 
E)  The likelihood that someone with both genetic and environmental risks will express a trait versus the likelihood when they have neither risk

What is population stratification?

Which of the following is NOT true of familial aggregation of a trait?

For multifactorial traits,how would the liability threshold model predict that a second affected child in a family would alter risk estimates for future pregnancies?

Which model attempts to explain the etiology of discontinuous multifactorial traits?

Compared to standard linkage analysis methods,what is an advantage of the affected sib pair method for gene hunting in complex traits?

Multifactorial,quantitative traits often show which type of distribution in a population?

One goal of the International HapMap project is to identify which of the following?

In a genetic association study,what does an odds ratio represent?

The History and Impact of Genetics in Medicine

The Cellular and Molecular Basis of Inheritance

Chromosomes and Cell Division

Dna Technology and Applications

Mapping and Identifying Genes for Monogenic Disorders

Developmental Genetics

Patterns of Inheritance

Population and Mathematical Genetics

Hemoglobin and the Hemoglobinopathies

Biochemical Genetics

Pharmacogenetics

Immunogenetics

Cancer Genetics

Genetic Factors in Common Diseases

Congenital Abnormalities and Dysmorphic Syndromes

Genetic Counseling

Chromosome Disorders

Single-Gene Disorders

Screening for Genetic Disease

Prenatal Testing and Reproductive Genetics

Risk Calculation

Treatment of Genetic Disease

Ethical and Legal Issues in Medical Genetics

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Exam 9: Polygenic and Multifactorial Inheritance

What is population stratification?

Which of the following is NOT true of familial aggregation of a trait?

For multifactorial traits,how would the liability threshold model predict that a second affected child in a family would alter risk estimates for future pregnancies?

Which model attempts to explain the etiology of discontinuous multifactorial traits?

Compared to standard linkage analysis methods,what is an advantage of the affected sib pair method for gene hunting in complex traits?

Multifactorial,quantitative traits often show which type of distribution in a population?

One goal of the International HapMap project is to identify which of the following?

In a genetic association study,what does an odds ratio represent?

The History and Impact of Genetics in Medicine

The Cellular and Molecular Basis of Inheritance

Chromosomes and Cell Division

Dna Technology and Applications

Mapping and Identifying Genes for Monogenic Disorders

Developmental Genetics

Patterns of Inheritance

Population and Mathematical Genetics

Hemoglobin and the Hemoglobinopathies

Biochemical Genetics

Pharmacogenetics

Immunogenetics

Cancer Genetics

Genetic Factors in Common Diseases

Congenital Abnormalities and Dysmorphic Syndromes

Genetic Counseling

Chromosome Disorders

Single-Gene Disorders

Screening for Genetic Disease

Prenatal Testing and Reproductive Genetics

Risk Calculation

Treatment of Genetic Disease

Ethical and Legal Issues in Medical Genetics

Filters