Question 1

What is an individual's genetic makeup called?

Accepted Answer

A) Phenotype 
B) Genotype 
C) Heterozygous locus 
D) Homozygous locus 
A) Phenotype 
B) Genotype 
C) Heterozygous locus 
D) Homozygous locus B

Question 2

Which disorders have similar modes of inheritance? (Select all that apply.)

Accepted Answer

A) Cri du chat syndrome 
B) Duchenne muscular dystrophy 
C) Polycystic kidney disease 
D) Down syndrome 
E) Becker muscular dystrophy 
A) Cri du chat syndrome 
B) Duchenne muscular dystrophy 
C) Polycystic kidney disease 
D) Down syndrome 
E) Becker muscular dystrophy B, E

Question 3

What is the most common cause of Down syndrome?

Accepted Answer

A) Paternal nondisjunction 
B) Maternal translocations 
C) Maternal nondisjunction 
D) Paternal translocation 
A) Paternal nondisjunction 
B) Maternal translocations 
C) Maternal nondisjunction 
D) Paternal translocation C

Question 4

When a child inherits a disease that is autosomal recessive, it is inherited from whom?

Accepted Answer

A) Father 
B) Mother 
C) Both parents 
D) Grandparent 
A) Father 
B) Mother 
C) Both parents 
D) Grandparent

Question 5

What is the second most commonly recognized genetic cause of intellectual disability?

Accepted Answer

A) Down syndrome 
B) Fragile X syndrome 
C) Klinefelter syndrome 
D) Turner syndrome 
A) Down syndrome 
B) Fragile X syndrome 
C) Klinefelter syndrome 
D) Turner syndrome

Question 6

People diagnosed with neurofibromatosis have varying degrees of the condition because of which genetic principle?

Accepted Answer

A) Penetrance 
B) Expressivity 
C) Dominance 
D) Recessiveness 
A) Penetrance 
B) Expressivity 
C) Dominance 
D) Recessiveness

Question 7

A healthcare professional is assessing a child who has complete trisomy of the twenty-first chromosome. What findings does the professional relate to this condition?

Accepted Answer

A) Widely spaced nipples, reduced carrying angle at the elbow, and sparse body hair 
B) An IQ of 25 to 70, low nasal bridge, protruding tongue, and flat, low-set ears 
C) High-pitched voice, tall stature, gynecomastia, and an IQ of 60 to 90 
D) Circumoral cyanosis, edema of the feet, short stature, and mental slowness 
A) Widely spaced nipples, reduced carrying angle at the elbow, and sparse body hair 
B) An IQ of 25 to 70, low nasal bridge, protruding tongue, and flat, low-set ears 
C) High-pitched voice, tall stature, gynecomastia, and an IQ of 60 to 90 
D) Circumoral cyanosis, edema of the feet, short stature, and mental slowness

Question 8

Males, having only one X chromosome, are said to be what?

Accepted Answer

A) Homozygous 
B) Heterozygous 
C) Hemizygous 
D) Ambizygous 
A) Homozygous 
B) Heterozygous 
C) Hemizygous 
D) Ambizygous

Question 9

Which is an important criterion for discerning autosomal recessive inheritance?

Accepted Answer

A) Consanguinity is sometimes present. 
B) Females are affected more than males. 
C) The disease is observed in both the parents, as well as in the siblings. 
D) On average, one half of the offspring of the carrier will be affected. 
A) Consanguinity is sometimes present. 
B) Females are affected more than males. 
C) The disease is observed in both the parents, as well as in the siblings. 
D) On average, one half of the offspring of the carrier will be affected.

Question 10

What is the technique for prenatal diagnosis of chromosomal abnormalities at 10 to 12 weeks' gestation?

Accepted Answer

A) Gene mapping 
B) Linkage analysis 
C) Amniocentesis 
D) Chorionic villus sampling 
A) Gene mapping 
B) Linkage analysis 
C) Amniocentesis 
D) Chorionic villus sampling

Question 11

In DNA replication, what does the enzyme DNA polymerase do?

Accepted Answer

A) Travel along the single DNA strand, adding the correct nucleotide to the new strand 
B) Move along the double strand of DNA to unwind the nucleotides of the double helix 
C) Hold the double strand apart while the correct nucleotides are added to the strand 
D) Transport the double strand of DNA from the nucleus to the cytoplasm for protein formation 
A) Travel along the single DNA strand, adding the correct nucleotide to the new strand 
B) Move along the double strand of DNA to unwind the nucleotides of the double helix 
C) Hold the double strand apart while the correct nucleotides are added to the strand 
D) Transport the double strand of DNA from the nucleus to the cytoplasm for protein formation

Question 12

Males are more often affected by which type of genetic disease?

Accepted Answer

A) Sex-linked dominant 
B) Sex-influenced 
C) Sex-linked 
D) Sex-linked recessive 
A) Sex-linked dominant 
B) Sex-influenced 
C) Sex-linked 
D) Sex-linked recessive

Question 13

How is transcription best defined?

Accepted Answer

A) DNA polymerase binds to the promoter site on ribonucleic acid (RN
A) . 
B) RNA directs the synthesis of polypeptides for protein synthesis. 
C) RNA is synthesized from a DNA template. 
D) A base pair substitution results in a mutation of the amino acid sequence. 
A) DNA polymerase binds to the promoter site on ribonucleic acid (RN
A) . 
B) RNA directs the synthesis of polypeptides for protein synthesis. 
C) RNA is synthesized from a DNA template. 
D) A base pair substitution results in a mutation of the amino acid sequence.

Question 14

Consanguinity refers to the mating of people in what situation?

Accepted Answer

A) Who are unrelated 
B) When one has an autosomal dominant disorder 
C) Having common family relations 
D) When one has a chromosomal abnormality 
A) Who are unrelated 
B) When one has an autosomal dominant disorder 
C) Having common family relations 
D) When one has a chromosomal abnormality

Question 15

Amniocentesis is recommended for pregnant with what history?

Accepted Answer

A) Have a history of chronic illness 
B) Have a family history of genetic disorders 
C) Have experienced in vitro fertilization 
D) Had a late menarche 
A) Have a history of chronic illness 
B) Have a family history of genetic disorders 
C) Have experienced in vitro fertilization 
D) Had a late menarche

Question 16

What is the risk for the recurrence of autosomal dominant diseases?

Accepted Answer

A) 10% 
B) 30% 
C) 50% 
D) 70% 
A) 10% 
B) 30% 
C) 50% 
D) 70%

Question 17

In somatic cell gene therapy, what type of vector is most commonly used to alter a specific set of an individual's somatic cells?

Accepted Answer

A) Virus 
B) Bacteria 
C) RNA polymerase 
D) Recombinant DNA 
A) Virus 
B) Bacteria 
C) RNA polymerase 
D) Recombinant DNA

Question 18

What advantage is derived from human genome sequencing on genetic disorders? (Select all that apply.)

Accepted Answer

A) Identification of the mutated gene 
B) Reversal of the mutation 
C) Diagnosis of the existing disorder 
D) Appropriate treatment 
E) Prevention of the disorder 
A) Identification of the mutated gene 
B) Reversal of the mutation 
C) Diagnosis of the existing disorder 
D) Appropriate treatment 
E) Prevention of the disorder

Question 19

Why an X-linked recessive disease can skip generations?

Accepted Answer

A) Females are hemizygous for the X chromosome. 
B) The disease can be transmitted through female carriers. 
C) Mothers cannot pass X-linked genes to their sons. 
D) These diseases need only one copy of the gene in females. 
A) Females are hemizygous for the X chromosome. 
B) The disease can be transmitted through female carriers. 
C) Mothers cannot pass X-linked genes to their sons. 
D) These diseases need only one copy of the gene in females.

Question 20

Cystic fibrosis is caused by what type of gene?

Accepted Answer

A) X-linked dominant 
B) X-linked recessive 
C) Autosomal dominant 
D) Autosomal recessive 
A) X-linked dominant 
B) X-linked recessive 
C) Autosomal dominant 
D) Autosomal recessive

Exam 4: Genes and Genetic Diseases

What is an individual's genetic makeup called?

Which disorders have similar modes of inheritance? (Select all that apply.)

What is the most common cause of Down syndrome?

When a child inherits a disease that is autosomal recessive, it is inherited from whom?

What is the second most commonly recognized genetic cause of intellectual disability?

People diagnosed with neurofibromatosis have varying degrees of the condition because of which genetic principle?

A healthcare professional is assessing a child who has complete trisomy of the twenty-first chromosome. What findings does the professional relate to this condition?

Males, having only one X chromosome, are said to be what?

Which is an important criterion for discerning autosomal recessive inheritance?

What is the technique for prenatal diagnosis of chromosomal abnormalities at 10 to 12 weeks' gestation?

In DNA replication, what does the enzyme DNA polymerase do?

Males are more often affected by which type of genetic disease?

How is transcription best defined?

Consanguinity refers to the mating of people in what situation?

Amniocentesis is recommended for pregnant with what history?

What is the risk for the recurrence of autosomal dominant diseases?

In somatic cell gene therapy, what type of vector is most commonly used to alter a specific set of an individual's somatic cells?

What advantage is derived from human genome sequencing on genetic disorders? (Select all that apply.)

Why an X-linked recessive disease can skip generations?

Cystic fibrosis is caused by what type of gene?

Cellular Biology

Altered Cellular and Tissue Biology: Environmental Agents

The Cellular Environment: Fluids and Electrolytes, Acids and Bases

Genes, Environment-Lifestyle, and Common Diseases

Epigenetics and Disease

Innate Immunity: Inflammation and Wound Healing

Adaptive Immunity

Alterations in Immunity and Inflammation

Infection

Stress and Disease

Cancer Biology

Cancer Epidemiology

Cancer in Children

Structure and Function of the Neurologic System

Pain, Temperature Regulation, Sleep, and Sensory Function

Alterations in Cognitive Systems, Cerebral Hemodynamics, and Motor Function

Disorders of the Central and Peripheral Nervous Systems and the Neuromuscular Junction

Neurobiology of Schizophrenia, Mood Disorders, and Anxiety Disorders

Alterations of Neurologic Function in Children

Mechanisms of Hormonal Regulation

Alterations of Hormonal Regulation

Obesity and Disorders of Nutrition

Structure and Function of the Reproductive Systems

Alterations of the Female Reproductive System

Alterations of the Male Reproductive System

Sexually Transmitted Infections

Structure and Function of the Hematologic System

Alterations of Erythrocytes, Platelets, and Hemostatic Function

Alterations of Leukocyte and Lymphoid Function

Alterations of Hematologic Function in Children

Structure and Function of the Cardiovascular and Lymphatic Systems

Alterations of Cardiovascular Function

Alterations of Cardiovascular Function in Children

Structure and Function of the Pulmonary System

Alterations of Pulmonary Function

Alterations of Pulmonary Function in Children

Structure and Function of the Renal and Urologic Systems

Alterations of Renal and Urinary Tract Function

Alterations of Renal and Urinary Tract Function in Children

Structure and Function of the Digestive System

Alterations of Digestive Function

Alterations of Digestive Function in Children

Structure and Function of the Musculoskeletal System

Alterations of Musculoskeletal Function

Alterations of Musculoskeletal Function in Children

Structure, Function, and Disorders of the Integument

Alterations of the Integument in Children

Shock, Multiple Organ Dysfunction Syndrome, and Burns in Adults

Shock, Multiple Organ Dysfunction Syndrome, and Burns in Children

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