Question 1

Which relatively common adult-onset disorder or health problem is the result of a mutation in a single gene?

Accepted Answer

A) Type 2 diabetes 
B) Multiple sclerosis 
C) Hereditary hemochromatosis 
D) Age-related macular degeneration 
A) Type 2 diabetes 
B) Multiple sclerosis 
C) Hereditary hemochromatosis 
D) Age-related macular degeneration C

Question 2

Why are women usually older than men before symptoms of hereditary hemochromatosis manifest?

Accepted Answer

A) Women have a counterbalancing normal gene on their second X chromosome. 
B) Women lose some iron with normal menstruation during childbearing years. 
C) Men have a larger muscle mass and more iron-storing capability than women. 
D) Men have greater expression of the gene for hemoglobin than do women. 
A) Women have a counterbalancing normal gene on their second X chromosome. 
B) Women lose some iron with normal menstruation during childbearing years. 
C) Men have a larger muscle mass and more iron-storing capability than women. 
D) Men have greater expression of the gene for hemoglobin than do women. B

Question 3

Which statement best explains the "thrifty genotype" for the high incidence of type 2 diabetes?

Accepted Answer

A) The person with a thrifty genotype has an efficient metabolism that generates more energy from less food and is more likely to survive famine. 
B) The person with a thrifty genotype conserves the energy lost from the body as heat and requires less rest to perform the same amount of work. 
C) The person with a thrifty genotype stores energy rather than expends energy so that more energy is available for survival when food is scarce. 
D) The person with a thrifty genotype feels satiety with smaller amounts of food and is less likely to become obese, thus increasing longevity. 
A) The person with a thrifty genotype has an efficient metabolism that generates more energy from less food and is more likely to survive famine. 
B) The person with a thrifty genotype conserves the energy lost from the body as heat and requires less rest to perform the same amount of work. 
C) The person with a thrifty genotype stores energy rather than expends energy so that more energy is available for survival when food is scarce. 
D) The person with a thrifty genotype feels satiety with smaller amounts of food and is less likely to become obese, thus increasing longevity. C

Question 4

What is the inheritance pattern for -1 antitrypsin (ATT) deficiency?

Accepted Answer

A) Autosomal dominant 
B) Autosomal recessive 
C) Autosomal codominant 
D) Sex-linked recessive 
A) Autosomal dominant 
B) Autosomal recessive 
C) Autosomal codominant 
D) Sex-linked recessive

Question 5

Which type of maturity-onset diabetes of the young (MODY) is the most common?

Accepted Answer

A) MODY-1 
B) MODY-2 
C) MODY-3 
D) MODY-4 
A) MODY-1 
B) MODY-2 
C) MODY-3 
D) MODY-4

Question 6

Which autoimmune disorder has the greatest environmental contribution?

Accepted Answer

A) Stickler syndrome 
B) Rheumatoid arthritis 
C) Multiple sclerosis 
D) Systemic lupus erythematosus 
A) Stickler syndrome 
B) Rheumatoid arthritis 
C) Multiple sclerosis 
D) Systemic lupus erythematosus

Question 7

If a man with hereditary hemochromatosis has children with a woman who is a carrier for the disorder, what is the expected risk pattern?

Accepted Answer

A) All sons will be affected; all daughters will be carriers. 
B) Daughters have a 50% risk for being affected; all sons will either be affected or carriers. 
C) Each child of either gender has a 50% risk of being a carrier and a 50% risk of having the disease. 
D) Each child of either gender has a 50% risk of being a carrier, a 25% risk of having the disease, and a 25% risk of neither being a carrier nor having the disease. 
A) All sons will be affected; all daughters will be carriers. 
B) Daughters have a 50% risk for being affected; all sons will either be affected or carriers. 
C) Each child of either gender has a 50% risk of being a carrier and a 50% risk of having the disease. 
D) Each child of either gender has a 50% risk of being a carrier, a 25% risk of having the disease, and a 25% risk of neither being a carrier nor having the disease.

Question 8

Why do the clinical signs and symptoms of hereditary hemochromatosis not appear until middle adulthood?

Accepted Answer

A) The adult over 50 has had more exposures to environmental insults over time. 
B) Prolonged dietary exposure to toxins produces clinical symptoms. 
C) Hereditary hemochromatosis has age-related penetrance. 
D) Stored iron builds up over time, causing organ damage. 
A) The adult over 50 has had more exposures to environmental insults over time. 
B) Prolonged dietary exposure to toxins produces clinical symptoms. 
C) Hereditary hemochromatosis has age-related penetrance. 
D) Stored iron builds up over time, causing organ damage.

Question 9

Which factor is consistent with multifactorial (complex) genetic disease?

Accepted Answer

A) Expression of the trait often involves mutations in several genes. 
B) Monozygotic (identical) twin concordance is 100%. 
C) Genotype consistently predicts phenotype. 
D) It tends to be autosomal dominant. 
A) Expression of the trait often involves mutations in several genes. 
B) Monozygotic (identical) twin concordance is 100%. 
C) Genotype consistently predicts phenotype. 
D) It tends to be autosomal dominant.

Question 10

Which type of diabetes has a slow onset and is often diagnosed in North American only when a complication is present?

Accepted Answer

A) Type 1 diabetes mellitus 
B) Type 2 diabetes mellitus 
C) Maturity-onset diabetes of the young (MODY) 
D) Gestational diabetes mellitus 
A) Type 1 diabetes mellitus 
B) Type 2 diabetes mellitus 
C) Maturity-onset diabetes of the young (MODY) 
D) Gestational diabetes mellitus

Question 11

What factors increase the clinical severity of -1 antitrypsin (ATT) deficiency?
1) Whether or not the person smokes 
2) Whether or not the person uses alcohol
3) The severity of disease in affected relatives
4) The specific alleles of the genes inherited

Accepted Answer

A)  1 and 4 
B)  2 and 3 
C)  2 and 4 
D)  4 only 
A)  1 and 4 
B)  2 and 3 
C)  2 and 4 
D)  4 only

Question 12

Why are complex or multifactorial disorders more commonly expressed among adults than among children?

Accepted Answer

A) As adults age, there is more time for environmental factors to influence the expression of a genetic disorder. 
B) Gene expression in adults is greater than in childhood as a result of age-related amplification of gene copy numbers. 
C) Children have better DNA repair mechanisms than adults and are more likely to correct a predisposition for a complex disorder. 
D) In order for a complex or multifactorial disorder to be expressed in childhood, the child must be homozygous for the genetic mutation. 
A) As adults age, there is more time for environmental factors to influence the expression of a genetic disorder. 
B) Gene expression in adults is greater than in childhood as a result of age-related amplification of gene copy numbers. 
C) Children have better DNA repair mechanisms than adults and are more likely to correct a predisposition for a complex disorder. 
D) In order for a complex or multifactorial disorder to be expressed in childhood, the child must be homozygous for the genetic mutation.

Question 13

Which statement regarding autoimmune diseases is true?

Accepted Answer

A) Autoimmune disorders and diseases are more common among females than among males. 
B) Autoimmune disorders and diseases are more common among males than among females. 
C) The main characteristics of an autoimmune disorder are a reduced inflammatory response and increased susceptibility to infection. 
D) The main characteristics of an autoimmune disorder are an increased inflammatory response and decreased susceptibility to infection. 
A) Autoimmune disorders and diseases are more common among females than among males. 
B) Autoimmune disorders and diseases are more common among males than among females. 
C) The main characteristics of an autoimmune disorder are a reduced inflammatory response and increased susceptibility to infection. 
D) The main characteristics of an autoimmune disorder are an increased inflammatory response and decreased susceptibility to infection.

Question 14

Why is predictive testing for Huntington disease avoided for a 4-year-old child who has one grandparent with the disorder?

Accepted Answer

A) Unless one of the parents is positive for the gene mutation, a negative finding would be noninformative. 
B) The Huntington disease mutation is poorly penetrant and may never be expressed even when inherited. 
C) A 4-year-old child cannot understand or participate in the genetic counseling process. 
D) There are no effective primary or secondary prevention strategies for this disorder. 
A) Unless one of the parents is positive for the gene mutation, a negative finding would be noninformative. 
B) The Huntington disease mutation is poorly penetrant and may never be expressed even when inherited. 
C) A 4-year-old child cannot understand or participate in the genetic counseling process. 
D) There are no effective primary or secondary prevention strategies for this disorder.

Question 15

Multiple sclerosis is more common in people from what geographic area?

Accepted Answer

A) Western Africa 
B) Southeast Asia 
C) Mediterranean region 
D) Northern Europe 
A) Western Africa 
B) Southeast Asia 
C) Mediterranean region 
D) Northern Europe

Question 16

What can be interpreted about type 2 diabetes mellitus in monozygotic twins when it affects only one twin 70% of the time and affects both twins 30% of the time?

Accepted Answer

A) The trait is recessive. 
B) Mutation repair is incompletely penetrant. 
C) Nongenetic factors can influence expression. 
D) Homologous genes can undergo chromatid exchanges. 
A) The trait is recessive. 
B) Mutation repair is incompletely penetrant. 
C) Nongenetic factors can influence expression. 
D) Homologous genes can undergo chromatid exchanges.

Question 17

A 31-year-old man has been diagnosed with chronic obstructive pulmonary disease (COPD) as a result of being homozygous for the ZZ mutation of the -1 antitrypsin (AAT)gene alleles. His wife has been tested and has the MM genotype on her AAT gene alleles. The man is worried that his three children may eventually develop COPD. What is your best response?

Accepted Answer

A) "Because your wife does not have the mutation, and neither of your parents has the disease, your children will not be affected." 
B) "Because your wife is not affected and is not a carrier, your children will have normal levels of AAT, and their risk is the same as for the general population." 
C) "Because you have the mutations, and your wife does not, your son will be at an increased risk for developing COPD, but your daughter will only be a carrier." 
D) "Because your children will each have only one mutated gene allele, their risk for COPD is primarily dependent on chronic environmental exposure to inhalation irritants." 
A) "Because your wife does not have the mutation, and neither of your parents has the disease, your children will not be affected." 
B) "Because your wife is not affected and is not a carrier, your children will have normal levels of AAT, and their risk is the same as for the general population." 
C) "Because you have the mutations, and your wife does not, your son will be at an increased risk for developing COPD, but your daughter will only be a carrier." 
D) "Because your children will each have only one mutated gene allele, their risk for COPD is primarily dependent on chronic environmental exposure to inhalation irritants."

Question 18

What is the best definition of the term compound heterozygous?

Accepted Answer

A) A person who has two different mutated alleles for an autosomal-recessive disorder 
B) A person whose expression of an autosomal-recessive disorder is modified by silencing of one allele 
C) A person who expresses a genetic disorder having different mutations on two nonhomologous chromosomes 
D) A person having a complex disorder in which there is unequal influence of genetic and environmental contributions 
A) A person who has two different mutated alleles for an autosomal-recessive disorder 
B) A person whose expression of an autosomal-recessive disorder is modified by silencing of one allele 
C) A person who expresses a genetic disorder having different mutations on two nonhomologous chromosomes 
D) A person having a complex disorder in which there is unequal influence of genetic and environmental contributions

Question 19

What do each of the genes involved in maturity-onset diabetes of the young (MODY) have in common?

Accepted Answer

A) They are all located on the long arm of chromosome 6. 
B) They each play a role in the metabolism of glucose, or insulin action and release. 
C) Although they are of different sizes, they all contain the same exon and intron sequences. 
D) The genes that cause MODY are expressed only in the young and suppressed during adulthood. 
A) They are all located on the long arm of chromosome 6. 
B) They each play a role in the metabolism of glucose, or insulin action and release. 
C) Although they are of different sizes, they all contain the same exon and intron sequences. 
D) The genes that cause MODY are expressed only in the young and suppressed during adulthood.

Question 20

Your patient's family comes from Ireland. Both her parents are carriers of gene mutations causing hereditary hemochromatosis (HFE-HHC). What is your patient'srisk of having the clinical signs of this disorder?

Accepted Answer

A) HHC is an autosomal-recessive condition; the risk is 25%. 
B) HHC has incomplete penetrance; we cannot accurately predict the clinical risk. 
C) HHC is a complex trait; we cannot accurately predict the clinical risk. 
D) HHC is an autosomal-dominant trait; the risk is 50%. 
A) HHC is an autosomal-recessive condition; the risk is 25%. 
B) HHC has incomplete penetrance; we cannot accurately predict the clinical risk. 
C) HHC is a complex trait; we cannot accurately predict the clinical risk. 
D) HHC is an autosomal-dominant trait; the risk is 50%.

Which relatively common adult-onset disorder or health problem is the result of a mutation in a single gene?

Why are women usually older than men before symptoms of hereditary hemochromatosis manifest?

Which statement best explains the "thrifty genotype" for the high incidence of type 2 diabetes?

What is the inheritance pattern for -1 antitrypsin (ATT) deficiency?

Which type of maturity-onset diabetes of the young (MODY) is the most common?

Which autoimmune disorder has the greatest environmental contribution?

If a man with hereditary hemochromatosis has children with a woman who is a carrier for the disorder, what is the expected risk pattern?

Why do the clinical signs and symptoms of hereditary hemochromatosis not appear until middle adulthood?

Which factor is consistent with multifactorial (complex) genetic disease?

Which type of diabetes has a slow onset and is often diagnosed in North American only when a complication is present?

What factors increase the clinical severity of -1 antitrypsin (ATT) deficiency? 1) Whether or not the person smokes 2) Whether or not the person uses alcohol 3) The severity of disease in affected relatives 4) The specific alleles of the genes inherited

Why are complex or multifactorial disorders more commonly expressed among adults than among children?

Which statement regarding autoimmune diseases is true?

Why is predictive testing for Huntington disease avoided for a 4-year-old child who has one grandparent with the disorder?

Multiple sclerosis is more common in people from what geographic area?

What can be interpreted about type 2 diabetes mellitus in monozygotic twins when it affects only one twin 70% of the time and affects both twins 30% of the time?

What is the best definition of the term compound heterozygous?

What do each of the genes involved in maturity-onset diabetes of the young (MODY) have in common?

Your patient's family comes from Ireland. Both her parents are carriers of gene mutations causing hereditary hemochromatosis (HFE-HHC). What is your patient'srisk of having the clinical signs of this disorder?

DNA Structure and Function

Protein Synthesis

Genetic Influence on Cell Division, Differentiation, and Gametogenesis

Patterns of Inheritance

Epigenetic Influences on Gene Expression

Autosomal Inheritance and Disorders

Sex Chromosome and Mitochondrial Inheritance and Disorders

Family History and Pedigree Construction

Congenital Anomalies, Basic Dysmorphology, and Genetic Assessment

Enzyme and Collagen Disorders

Common Childhood-Onset Genetic Disorders

Cardiovascular Disorders

The Genetics of Cancer

Genetic Contributions to Psychiatric and Behavioral Disorders

Genetic and Genomic Testing

Assessing Genomic Variation in Drug Response

Health Professionals and Genomic Care

Financial, Ethical, Legal, and Social Considerations

Genetic and Genomic Variation

Filters

Exam 12: Common Adult-Onset Disorders

Which relatively common adult-onset disorder or health problem is the result of a mutation in a single gene?

Why are women usually older than men before symptoms of hereditary hemochromatosis manifest?

Which statement best explains the "thrifty genotype" for the high incidence of type 2 diabetes?

What is the inheritance pattern for -1 antitrypsin (ATT) deficiency?

Which type of maturity-onset diabetes of the young (MODY) is the most common?

Which autoimmune disorder has the greatest environmental contribution?

If a man with hereditary hemochromatosis has children with a woman who is a carrier for the disorder, what is the expected risk pattern?

Why do the clinical signs and symptoms of hereditary hemochromatosis not appear until middle adulthood?

Which factor is consistent with multifactorial (complex) genetic disease?

Which type of diabetes has a slow onset and is often diagnosed in North American only when a complication is present?

What factors increase the clinical severity of -1 antitrypsin (ATT) deficiency? 1) Whether or not the person smokes 2) Whether or not the person uses alcohol 3) The severity of disease in affected relatives 4) The specific alleles of the genes inherited

Why are complex or multifactorial disorders more commonly expressed among adults than among children?

Which statement regarding autoimmune diseases is true?

Why is predictive testing for Huntington disease avoided for a 4-year-old child who has one grandparent with the disorder?

Multiple sclerosis is more common in people from what geographic area?

What can be interpreted about type 2 diabetes mellitus in monozygotic twins when it affects only one twin 70% of the time and affects both twins 30% of the time?

What is the best definition of the term compound heterozygous?

What do each of the genes involved in maturity-onset diabetes of the young (MODY) have in common?

Your patient's family comes from Ireland. Both her parents are carriers of gene mutations causing hereditary hemochromatosis (HFE-HHC). What is your patient'srisk of having the clinical signs of this disorder?

DNA Structure and Function

Protein Synthesis

Genetic Influence on Cell Division, Differentiation, and Gametogenesis

Patterns of Inheritance

Epigenetic Influences on Gene Expression

Autosomal Inheritance and Disorders

Sex Chromosome and Mitochondrial Inheritance and Disorders

Family History and Pedigree Construction

Congenital Anomalies, Basic Dysmorphology, and Genetic Assessment

Enzyme and Collagen Disorders

Common Childhood-Onset Genetic Disorders

Cardiovascular Disorders

The Genetics of Cancer

Genetic Contributions to Psychiatric and Behavioral Disorders

Genetic and Genomic Testing

Assessing Genomic Variation in Drug Response

Health Professionals and Genomic Care

Financial, Ethical, Legal, and Social Considerations

Genetic and Genomic Variation

Filters