Question 1

The term for an error in which homologous chromosomes fail to separate during meiosis or mitosis is:

Accepted Answer

A) aneuploidy. 
B) nondisjunction. 
C) polyploidy. 
D) translocation. 
A) aneuploidy. 
B) nondisjunction. 
C) polyploidy. 
D) translocation.

Question 2

Which clinical manifestations would be expected for a child who has complete trisomy of the twenty-first chromosome?

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 3

If a boy has hemophilia A, he inherited it from:

Accepted Answer

A) his father. 
B) his mother. 
C) both parents. 
D) his maternal grandparents. 
A) his father. 
B) his mother. 
C) both parents. 
D) his maternal grandparents.

Question 4

Match the disease with its chromosomal abnormality.
-Two X chromosomes and one Y chromosome

Accepted Answer

A) Down syndrome 
B) Klinefelter syndrome 
C) Turner syndrome 
D) Cri du chat 
A) Down syndrome 
B) Klinefelter syndrome 
C) Turner syndrome 
D) Cri du chat

Question 5

What is the role of DNA polymerase in DNA replication?

Accepted Answer

A) This enzyme travels along the single DNA strand adding the correct nucleotide to the new strand. 
B) This enzyme travels along the double strand of DNA to unwind the nucleotides of the double helix. 
C) This enzyme holds the double strand apart while the correct nucleotides are added to the strand. 
D) This enzyme transports the double strand of DNA from the nucleus to the cytoplasm for protein formation. 
A) This enzyme travels along the single DNA strand adding the correct nucleotide to the new strand. 
B) This enzyme travels along the double strand of DNA to unwind the nucleotides of the double helix. 
C) This enzyme holds the double strand apart while the correct nucleotides are added to the strand. 
D) This enzyme transports the double strand of DNA from the nucleus to the cytoplasm for protein formation.

Question 6

Match the disease with its chromosomal abnormality.
-A zygote has one chromosome with the normal complement of genes and one with a missing gene

Accepted Answer

A) Down syndrome 
B) Klinefelter syndrome 
C) Turner syndrome 
D) Cri du chat 
A) Down syndrome 
B) Klinefelter syndrome 
C) Turner syndrome 
D) Cri du chat

Question 7

People who have neurofibromatosis have a varying degree of the condition because of the genetic principle of:

Accepted Answer

A) penetrance. 
B) expressivity. 
C) dominance. 
D) recessiveness. 
A) penetrance. 
B) expressivity. 
C) dominance. 
D) recessiveness.

Question 8

Transcription is best defined as a process by which:

Accepted Answer

A) DNA polymerase binds to the promoter site on RNA. 
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 RNA. 
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 9

Consanguinity refers to the mating of:

Accepted Answer

A) two unrelated individuals. 
B) persons when one has an autosomal dominant disorder. 
C) persons having common family relations. 
D) persons when one has a chromosomal abnormality. 
A) two unrelated individuals. 
B) persons when one has an autosomal dominant disorder. 
C) persons having common family relations. 
D) persons when one has a chromosomal abnormality.

Question 10

An amniocentesis indicates a neural tube defect when there is an increase in:

Accepted Answer

A) chorionic protein. 
B) alpha fetoprotein. 
C) amniotic protein. 
D) embryonic protein. 
A) chorionic protein. 
B) alpha fetoprotein. 
C) amniotic protein. 
D) embryonic protein.

Question 11

What is the blood type of a person who is heterozygous, having A and B alleles as codominant?

Accepted Answer

A) Type A 
B) Type B 
C) Type O 
D) Type AB 
A) Type A 
B) Type B 
C) Type O 
D) Type AB

Question 12

An amniocentesis is recommended for pregnant women who:

Accepted Answer

A) have a history of chronic illness. 
B) have a family history of genetic disorders. 
C) are older than 40 years of age. 
D) had a late menarche. 
A) have a history of chronic illness. 
B) have a family history of genetic disorders. 
C) are older than 40 years of age. 
D) had a late menarche.

Question 13

Frameshift mutation has no effect on amino acid sequence in protein synthesis.

Accepted Answer

A) True 
 B)False

Question 14

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

Question 15

Cystic fibrosis is caused by an __________________ 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

Question 16

Match the genetic terms with the corresponding diseases. Terms may be used more than once.
-Huntington disease

Accepted Answer

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

Question 17

A child born with an autosomal dominant disease was most likely produced by the union of a normal parent with an affected heterozygous parent.

Accepted Answer

A) True 
 B)False

Question 18

Match the genetic terms with the corresponding diseases. Terms may be used more than once.
-Sickle cell disease

Accepted Answer

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

Question 19

DNA directs the synthesis of all of the body's proteins.

Accepted Answer

A) True 
 B)False

Question 20

If a boy inherits a disease that is autosomal recessive, he inherited it from:

Accepted Answer

A) his father. 
B) his mother. 
C) both parents. 
D) a grandparent. 
A) his father. 
B) his mother. 
C) both parents. 
D) a grandparent.

Exam 4: Genes and Genetic Diseases

The term for an error in which homologous chromosomes fail to separate during meiosis or mitosis is:

Which clinical manifestations would be expected for a child who has complete trisomy of the twenty-first chromosome?

If a boy has hemophilia A, he inherited it from:

Match the disease with its chromosomal abnormality. -Two X chromosomes and one Y chromosome

What is the role of DNA polymerase in DNA replication?

Match the disease with its chromosomal abnormality. -A zygote has one chromosome with the normal complement of genes and one with a missing gene

People who have neurofibromatosis have a varying degree of the condition because of the genetic principle of:

Transcription is best defined as a process by which:

Consanguinity refers to the mating of:

An amniocentesis indicates a neural tube defect when there is an increase in:

What is the blood type of a person who is heterozygous, having A and B alleles as codominant?

An amniocentesis is recommended for pregnant women who:

Frameshift mutation has no effect on amino acid sequence in protein synthesis.

What is the most common cause of Down syndrome?

Cystic fibrosis is caused by an __________________ gene.

Match the genetic terms with the corresponding diseases. Terms may be used more than once. -Huntington disease

A child born with an autosomal dominant disease was most likely produced by the union of a normal parent with an affected heterozygous parent.

Match the genetic terms with the corresponding diseases. Terms may be used more than once. -Sickle cell disease

DNA directs the synthesis of all of the body's proteins.

If a boy inherits a disease that is autosomal recessive, he inherited it from:

Cellular Biology

Altered Cellular and Tissue Biology

The Cellular Environment: Fluids and Electrolytes, Acids and Bases

Genes, Environment, and Common Diseases

Innate Immunity: Inflammation

Adaptive Immunity

Alterations in Immunity and Inflammation

Infection

Stress and Disease

Biology, Clinical Manifestations, and Treatment of Cancer

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

Structure and Function of the Reproductive System

Alterations of the Reproductive Systems

Sexually Transmitted Infections

Structure and Function of the Hematologic System

Alterations of Erythrocyte Function

Alterations of Leukocyte, Lymphoid, and Hemostatic 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 Adult

Shock, Multiple Organ Dysfunction Syndrome, and Burns in Children

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