Question 1

The factor V Leiden mutation is associated with:

Accepted Answer

A)  Reduced cleavage of factor V by protein C 
B)  Factor V deficiency 
C)  Decreased clotting 
D)  Resolution of phenotype during puberty 
E)  Delayed presentation caused by fetal hemoglobin expression 
A)  Reduced cleavage of factor V by protein C 
B)  Factor V deficiency 
C)  Decreased clotting 
D)  Resolution of phenotype during puberty 
E)  Delayed presentation caused by fetal hemoglobin expression A

Question 2

In mothers, variation in which gene increases the susceptibility of their offspring to neural tube defects?

Accepted Answer

A)  Tetrahydrofolate (THF)THF 
B)  Methylene tetrahydrofolate reductase (MTHFR) 
C)  Cystathionine$\beta$-synthase 
D)  Dihydrofolate (DHF) DHF 
E)  Thymidylate synthase 
A)  Tetrahydrofolate (THF)THF 
B)  Methylene tetrahydrofolate reductase (MTHFR) 
C)  Cystathionine$\beta$-synthase 
D)  Dihydrofolate (DHF) DHF 
E)  Thymidylate synthase B

Question 3

When providing genetic counseling to an individual with a relative who has a complex trait, which of the following types of information is used?

Accepted Answer

A)  Empirical risk estimates based on averages from similar families 
B)  The mode of inheritance 
C)  Hardy-Weinberg law 
D)  Estimates of heritability from family studies 
E)  All of the above 
A)  Empirical risk estimates based on averages from similar families 
B)  The mode of inheritance 
C)  Hardy-Weinberg law 
D)  Estimates of heritability from family studies 
E)  All of the above A

Question 4

Which of the following is the first known powerful, predisposing allele for common, late-onset Alzheimer disease?

Accepted Answer

A)  Factor V Leiden 
B)  Prothrombin 20210 G>A 
C)  DQB1 57D 
D)  PTPN22 R620W 
E)  ApoE $\varepsilon$4 
A)  Factor V Leiden 
B)  Prothrombin 20210 G>A 
C)  DQB1 57D 
D)  PTPN22 R620W 
E)  ApoE $\varepsilon$4

Question 5

The vast majority of people with type 1 diabetes share alleles surrounding which genes?

Accepted Answer

A)  Insulin receptors 
B)  Glucose-transport protein 2 (GLUT-2) 
C)  Insulin genes 
D)  Major histocompatibility complex (MH
C)  
E)  Phospholipase C 
A)  Insulin receptors 
B)  Glucose-transport protein 2 (GLUT-2) 
C)  Insulin genes 
D)  Major histocompatibility complex (MH
C)  
E)  Phospholipase C

Question 6

Variation in which two genes is known to greatly increase the risk of venous thrombosis in women using oral contraceptives?

Accepted Answer

A)  C-reactive protein and factor V 
B)  Factor VIII and factor IX 
C)  Factor IX and factor X 
D)  C-reactive protein and prothrombin 
E)  Factor V and prothrombin 
A)  C-reactive protein and factor V 
B)  Factor VIII and factor IX 
C)  Factor IX and factor X 
D)  C-reactive protein and prothrombin 
E)  Factor V and prothrombin

Question 7

For qualitative traits, we use concordance as a measure of heritability. What is the measure we use for the heritability of quantitative traits?

Accepted Answer

A)  Deviations from the mean in a normal distribution 
B)  Coefficient of correlation 
C)  Regression to the mean 
D)  Measured trait similarity 
E)  Difference in the trait measurements 
A)  Deviations from the mean in a normal distribution 
B)  Coefficient of correlation 
C)  Regression to the mean 
D)  Measured trait similarity 
E)  Difference in the trait measurements

Question 8

Twin studies are used as a way to separate genetic effects from confounding by which of the following factors?

Accepted Answer

A)  Epigenetics 
B)  X inactivation 
C)  Heteroplasmy 
D)  Environment 
E)  Somatic mutation 
A)  Epigenetics 
B)  X inactivation 
C)  Heteroplasmy 
D)  Environment 
E)  Somatic mutation

Question 9

The fact that two family members who share a genetic disease phenotype are more likely to participate in a family study than two who are discordant is a form of:

Accepted Answer

A)  Ascertainment bias 
B)  Experimental selection 
C)  Population stratification 
D)  Type 1 error 
E)  Familial aggregation 
A)  Ascertainment bias 
B)  Experimental selection 
C)  Population stratification 
D)  Type 1 error 
E)  Familial aggregation

Question 10

High blood pressure can be considered as which type of trait in a genetic study?

Accepted Answer

A)  Complex 
B)  Quantitative 
C)  Qualitative 
D)  Multifactorial 
E)  Any of the above 
A)  Complex 
B)  Quantitative 
C)  Qualitative 
D)  Multifactorial 
E)  Any of the above

The factor V Leiden mutation is associated with:

In mothers, variation in which gene increases the susceptibility of their offspring to neural tube defects?

When providing genetic counseling to an individual with a relative who has a complex trait, which of the following types of information is used?

Which of the following is the first known powerful, predisposing allele for common, late-onset Alzheimer disease?

The vast majority of people with type 1 diabetes share alleles surrounding which genes?

Variation in which two genes is known to greatly increase the risk of venous thrombosis in women using oral contraceptives?

For qualitative traits, we use concordance as a measure of heritability. What is the measure we use for the heritability of quantitative traits?

Twin studies are used as a way to separate genetic effects from confounding by which of the following factors?

The fact that two family members who share a genetic disease phenotype are more likely to participate in a family study than two who are discordant is a form of:

High blood pressure can be considered as which type of trait in a genetic study?

Introduction to the Human Genome

The Human Genome: Gene Structure and Function

Principles of Clinical Cytogenetics and Genome Analysis

The Chromosomal and Genomic Basis of Disease: Disorders of the Autosomes and Sex Chromosomes

Patterns of Single-Gene Inheritance

Genetic Variation in Populations

Identifying the Genetic Basis for Human Disease

The Molecular Basis of Genetic Disease

The Molecular, Biochemical, and Cellular Basis of Genetic Disease

The Treatment of Genetic Disease

Developmental Genetics and Birth Defects

Cancer Genetics and Genomics

Risk Assessment and Genetic Counseling

Prenatal Diagnosis and Screening

Application of Genomics to Medicine and Personalized Health Care

Ethical and Social Issues in Genetics and Genomics

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Exam 8: Complex Inheritance of Common Multifactorial Disorders

The factor V Leiden mutation is associated with:

In mothers, variation in which gene increases the susceptibility of their offspring to neural tube defects?

When providing genetic counseling to an individual with a relative who has a complex trait, which of the following types of information is used?

Which of the following is the first known powerful, predisposing allele for common, late-onset Alzheimer disease?

The vast majority of people with type 1 diabetes share alleles surrounding which genes?

Variation in which two genes is known to greatly increase the risk of venous thrombosis in women using oral contraceptives?

For qualitative traits, we use concordance as a measure of heritability. What is the measure we use for the heritability of quantitative traits?

Twin studies are used as a way to separate genetic effects from confounding by which of the following factors?

The fact that two family members who share a genetic disease phenotype are more likely to participate in a family study than two who are discordant is a form of:

High blood pressure can be considered as which type of trait in a genetic study?

Introduction to the Human Genome

The Human Genome: Gene Structure and Function

Principles of Clinical Cytogenetics and Genome Analysis

The Chromosomal and Genomic Basis of Disease: Disorders of the Autosomes and Sex Chromosomes

Patterns of Single-Gene Inheritance

Genetic Variation in Populations

Identifying the Genetic Basis for Human Disease

The Molecular Basis of Genetic Disease

The Molecular, Biochemical, and Cellular Basis of Genetic Disease

The Treatment of Genetic Disease

Developmental Genetics and Birth Defects

Cancer Genetics and Genomics

Risk Assessment and Genetic Counseling

Prenatal Diagnosis and Screening

Application of Genomics to Medicine and Personalized Health Care

Ethical and Social Issues in Genetics and Genomics

Filters