Question 1

Which result of genetic/genomic variation has the most support as a cause of asthma?

Accepted Answer

A) Decreased resistance to infectious microorganisms 
B) Early childhood exposures to inhalation irritants (air pollution) 
C) Increased inflammatory responses to environmental triggers 
D) Mutations in frontal-lobe genes controlling attention-getting behavior 
A) Decreased resistance to infectious microorganisms 
B) Early childhood exposures to inhalation irritants (air pollution) 
C) Increased inflammatory responses to environmental triggers 
D) Mutations in frontal-lobe genes controlling attention-getting behavior C

Question 2

Which additional health problem commonly develops in boys with Duchenne muscular dystrophy?

Accepted Answer

A) Arthritis 
B) Hypertension 
C) Diabetes mellitus 
D) Chronic heart failure 
A) Arthritis 
B) Hypertension 
C) Diabetes mellitus 
D) Chronic heart failure D

Question 3

How is sickle cell trait different from sickle cell disease?

Accepted Answer

A) People with sickle cell disease are homologous for the mutation, whereas those with sickle cell trait are heterozygous for the mutation. 
B) People with sickle cell trait are homologous for the mutation, whereas those with sickle cell disease are heterozygous for the mutation. 
C) Sickle cell disease results from an inherited mutation, and sickle cell trait results from an acquired mutation. 
D) Sickle cell trait results from an inherited mutation, and sickle cell disease results from an acquired mutation. 
A) People with sickle cell disease are homologous for the mutation, whereas those with sickle cell trait are heterozygous for the mutation. 
B) People with sickle cell trait are homologous for the mutation, whereas those with sickle cell disease are heterozygous for the mutation. 
C) Sickle cell disease results from an inherited mutation, and sickle cell trait results from an acquired mutation. 
D) Sickle cell trait results from an inherited mutation, and sickle cell disease results from an acquired mutation. A

Question 4

What health advantage does sickle cell trait or disease confer on the person who has it?

Accepted Answer

A) Decreased risk for type 1 diabetes mellitus 
B) Decreased risk for hypercholesterolemia 
C) Decreased risk for fulminating cholera 
D) Decreased risk for malaria 
A) Decreased risk for type 1 diabetes mellitus 
B) Decreased risk for hypercholesterolemia 
C) Decreased risk for fulminating cholera 
D) Decreased risk for malaria

Question 5

Which type of testing is most commonly used to diagnose classic hemophilia?

Accepted Answer

A) Hematocrit and hemoglobin levels 
B) X-chromosome inactivation 
C) Genetic mutation analysis 
D) Factor VIII levels 
A) Hematocrit and hemoglobin levels 
B) X-chromosome inactivation 
C) Genetic mutation analysis 
D) Factor VIII levels

Question 6

Which statement regarding classic hemophilia is true?

Accepted Answer

A) Females are not affected. 
B) Because hemophilia is X-linked recessive, females are affected, and males are carriers. 
C) Because hemophilia is X-linked recessive, males are affected, and females are carriers. 
D) The sons of women who are older than age 40 when pregnant are at an increased risk for hemophilia. 
A) Females are not affected. 
B) Because hemophilia is X-linked recessive, females are affected, and males are carriers. 
C) Because hemophilia is X-linked recessive, males are affected, and females are carriers. 
D) The sons of women who are older than age 40 when pregnant are at an increased risk for hemophilia.

Question 7

Why does Duchenne muscular dystrophy (DMD) have poor reproductive fitness?

Accepted Answer

A) Most affected individuals typically do not have children. 
B) Fifty percent of mutations of the dystrophin gene are deletions. 
C) The loss of functional adhesion proteins prevents reproduction. 
D) The expression of disease severity is highly variable among adults 
A) Most affected individuals typically do not have children. 
B) Fifty percent of mutations of the dystrophin gene are deletions. 
C) The loss of functional adhesion proteins prevents reproduction. 
D) The expression of disease severity is highly variable among adults

Question 8

Which form of von Willebrand disease (VWD) is most often diagnosed in early childhood?

Accepted Answer

A) Type 1 VWD 
B) Type 2 VWD 
C) Type 3 VWD 
D) Type 4 VWD 
A) Type 1 VWD 
B) Type 2 VWD 
C) Type 3 VWD 
D) Type 4 VWD

Question 9

Which tissues are most commonly affected by mutation of the CFTR gene?

Accepted Answer

A) Eyes and ears 
B) Brain and intestines 
C) Lungs and pancreas 
D) Kidneys and long bones 
A) Eyes and ears 
B) Brain and intestines 
C) Lungs and pancreas 
D) Kidneys and long bones

Question 10

What is the most likely explanation for the variability in expression of disease severity for cystic fibrosis?

Accepted Answer

A) The ethnicity of the patient 
B) The specific CFTR gene mutation inherited 
C) The presence of other nongenetic lung or pancreatic problems 
D) The length of trinucleotide repeat sequences in the first exon of the CFTR gene 
A) The ethnicity of the patient 
B) The specific CFTR gene mutation inherited 
C) The presence of other nongenetic lung or pancreatic problems 
D) The length of trinucleotide repeat sequences in the first exon of the CFTR gene

Question 11

Which specific type of genetic problem causes sickle cell disease?

Accepted Answer

A) Deletion of an exon 
B) Deletion of an intron 
C) Unbalanced translocation 
D) Single-nucleotide polymorphism 
A) Deletion of an exon 
B) Deletion of an intron 
C) Unbalanced translocation 
D) Single-nucleotide polymorphism

Question 12

A 21-year-old woman who has two brothers with Duchenne muscular dystrophy asks whether carrier status testing is appropriate for her. What is the best response?

Accepted Answer

A) "Testing could be beneficial because your risk for being a carrier is nearly 100%." 
B) "Testing could be beneficial because your risk for being a carrier is approximately 50%. 
C) "Testing is not necessary because you would have expressed some symptoms of the disease by this time if you were a carrier." 
D) "Testing is not necessary because the spontaneous mutation rate for this genetic problem is high and likely to be why your brothers have the disease." 
A) "Testing could be beneficial because your risk for being a carrier is nearly 100%." 
B) "Testing could be beneficial because your risk for being a carrier is approximately 50%. 
C) "Testing is not necessary because you would have expressed some symptoms of the disease by this time if you were a carrier." 
D) "Testing is not necessary because the spontaneous mutation rate for this genetic problem is high and likely to be why your brothers have the disease."

Question 13

Which relative of a patient who has cystic fibrosis has the correct risk for being a cystic fibrosis carrier?

Accepted Answer

A) Sister 0% 
B) Mother 50% 
C) Father 100% 
D) Brother 100% 
A) Sister 0% 
B) Mother 50% 
C) Father 100% 
D) Brother 100%

Question 14

Which health problem occurs at a higher rate among children with achondroplasia than among the general population?

Accepted Answer

A) Cognitive impairment 
B) Hearing impairment 
C) Color blindness 
D) Sudden infant death syndrome 
A) Cognitive impairment 
B) Hearing impairment 
C) Color blindness 
D) Sudden infant death syndrome

Question 15

How does the drug Endari reduce the manifestations of sickle cell disease?

Accepted Answer

A) Promoting faster red blood cell production 
B) Increasing the concentration of fetal hemoglobin (HbF) 
C) Reducing oxidate stress and increasing the life span of red blood cells 
D) Correcting the mutation of one allele so that the person has sickle cell trait instead of sickle cell disease 
A) Promoting faster red blood cell production 
B) Increasing the concentration of fetal hemoglobin (HbF) 
C) Reducing oxidate stress and increasing the life span of red blood cells 
D) Correcting the mutation of one allele so that the person has sickle cell trait instead of sickle cell disease

Question 16

Which type of testing is most commonly used to diagnose sickle cell disease?

Accepted Answer

A) Hematocrit and hemoglobin levels 
B) Hemoglobin electrophoresis 
C) Genetic mutation analysis 
D) Sweat chloride analysis 
A) Hematocrit and hemoglobin levels 
B) Hemoglobin electrophoresis 
C) Genetic mutation analysis 
D) Sweat chloride analysis

Question 17

Which statement regarding type 1 von Willebrand disease (VWD) is true?

Accepted Answer

A) Incomplete penetrance is common. 
B) It represents the female form of hemophilia. 
C) Carriers can transmit the disease to their children. 
D) Males are affected twice as frequently as females. 
A) Incomplete penetrance is common. 
B) It represents the female form of hemophilia. 
C) Carriers can transmit the disease to their children. 
D) Males are affected twice as frequently as females.

Question 18

Which ethnic group has the highest incidence of sickle cell disease (SCD)?

Accepted Answer

A) Ashkenazi Jews 
B) Asian Americans 
C) African Americans 
D) French Canadians from Quebec 
A) Ashkenazi Jews 
B) Asian Americans 
C) African Americans 
D) French Canadians from Quebec

Question 19

A 12-year-old girl was diagnosed with von Willebrand disease (VWD) when she developed profound anemia from very heavy menstrual periods. Her levels of von Willebrand (vWf) factor are normal. What specific type of von Willebrand disease is she most likely to have?

Accepted Answer

A) Type 1 VWD 
B) Type 2 VWD 
C) Type 3 VWD 
D) Type 4 VWD 
A) Type 1 VWD 
B) Type 2 VWD 
C) Type 3 VWD 
D) Type 4 VWD

Question 20

Which feature or factor is the best predictor for delay of complications in a person who has sickle cell disease (SCD)?

Accepted Answer

A) Male gender 
B) 20% or greater of HbF 
C) Having survived malaria 
D) Living in a geographic area that has cold winters 
A) Male gender 
B) 20% or greater of HbF 
C) Having survived malaria 
D) Living in a geographic area that has cold winters

Which result of genetic/genomic variation has the most support as a cause of asthma?

Which additional health problem commonly develops in boys with Duchenne muscular dystrophy?

How is sickle cell trait different from sickle cell disease?

What health advantage does sickle cell trait or disease confer on the person who has it?

Which type of testing is most commonly used to diagnose classic hemophilia?

Which statement regarding classic hemophilia is true?

Why does Duchenne muscular dystrophy (DMD) have poor reproductive fitness?

Which form of von Willebrand disease (VWD) is most often diagnosed in early childhood?

Which tissues are most commonly affected by mutation of the CFTR gene?

What is the most likely explanation for the variability in expression of disease severity for cystic fibrosis?

Which specific type of genetic problem causes sickle cell disease?

A 21-year-old woman who has two brothers with Duchenne muscular dystrophy asks whether carrier status testing is appropriate for her. What is the best response?

Which relative of a patient who has cystic fibrosis has the correct risk for being a cystic fibrosis carrier?

Which health problem occurs at a higher rate among children with achondroplasia than among the general population?

How does the drug Endari reduce the manifestations of sickle cell disease?

Which type of testing is most commonly used to diagnose sickle cell disease?

Which statement regarding type 1 von Willebrand disease (VWD) is true?

Which ethnic group has the highest incidence of sickle cell disease (SCD)?

A 12-year-old girl was diagnosed with von Willebrand disease (VWD) when she developed profound anemia from very heavy menstrual periods. Her levels of von Willebrand (vWf) factor are normal. What specific type of von Willebrand disease is she most likely to have?

Which feature or factor is the best predictor for delay of complications in a person who has sickle cell disease (SCD)?

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 Adult-Onset 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 11: Common Childhood-Onset Genetic Disorders

Which result of genetic/genomic variation has the most support as a cause of asthma?

Which additional health problem commonly develops in boys with Duchenne muscular dystrophy?

How is sickle cell trait different from sickle cell disease?

What health advantage does sickle cell trait or disease confer on the person who has it?

Which type of testing is most commonly used to diagnose classic hemophilia?

Which statement regarding classic hemophilia is true?

Why does Duchenne muscular dystrophy (DMD) have poor reproductive fitness?

Which form of von Willebrand disease (VWD) is most often diagnosed in early childhood?

Which tissues are most commonly affected by mutation of the CFTR gene?

What is the most likely explanation for the variability in expression of disease severity for cystic fibrosis?

Which specific type of genetic problem causes sickle cell disease?

A 21-year-old woman who has two brothers with Duchenne muscular dystrophy asks whether carrier status testing is appropriate for her. What is the best response?

Which relative of a patient who has cystic fibrosis has the correct risk for being a cystic fibrosis carrier?

Which health problem occurs at a higher rate among children with achondroplasia than among the general population?

How does the drug Endari reduce the manifestations of sickle cell disease?

Which type of testing is most commonly used to diagnose sickle cell disease?

Which statement regarding type 1 von Willebrand disease (VWD) is true?

Which ethnic group has the highest incidence of sickle cell disease (SCD)?

A 12-year-old girl was diagnosed with von Willebrand disease (VWD) when she developed profound anemia from very heavy menstrual periods. Her levels of von Willebrand (vWf) factor are normal. What specific type of von Willebrand disease is she most likely to have?

Which feature or factor is the best predictor for delay of complications in a person who has sickle cell disease (SCD)?

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 Adult-Onset 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