Quiz 98: Genes and Genetic Diseases
McCance/Huether: Pathophysiology: The Biologic Basis of Disease in Adults and Children, 8th Edition
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1. In somatic cell gene therapy, what type of vector is most commonly used to alter a specific set of an individual’s somatic cells?
c. RNA polymerase
d. Recombinant DNA
2. In DNA replication, what does the enzyme DNA polymerase do?
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
3. How is transcription best defined?
a. DNA polymerase binds to the promoter site on ribonucleic acid (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.
4. What is the purpose of using a Giemsa staining technique on chromosomes?
a. Permit the mitotic process to be followed and monitored for variations.
b. Allow for the numbering of chromosomes and the identification of variations.
c. Identify new somatic cells formed through mitosis and cytokinesis.
d. Distinguish the sex chromosomes from the homologous chromosomes.
5. An amniocentesis indicates a neural tube defect when an increase in which protein is evident?
a. Cytochrome P-450
b. Alpha fetoprotein
c. DNA polymerase
d. Embryonic proteins
6. Amniocentesis is recommended for pregnant with what history?
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
7. What is the technique for prenatal diagnosis of chromosomal abnormalities at 10 to 12 weeks’ gestation?
a. Gene mapping
b. Linkage analysis
d. Chorionic villus sampling
8. What is the term for an error in which homologous chromosomes fail to separate during meiosis or mitosis?
9. 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?
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
10. What is the most common cause of Down syndrome?
a. Paternal nondisjunction
b. Maternal translocations
c. Maternal nondisjunction
d. Paternal translocation
11. What syndrome, characterized by an absent homologous X chromosome with only a single X chromosome, exhibits features that include a short stature, widely spaced nipples, and webbed neck?
b. Cri du chat
12. A person with 47, XXY karyotype has the genetic disorder resulting in which syndrome?
d. Fragile X
13. What is the second most commonly recognized genetic cause of intellectual disability?
a. Down syndrome
b. Fragile X syndrome
c. Klinefelter syndrome
d. Turner syndrome
14. What is the blood type of a person who is heterozygous, having A and B alleles as codominant?
15. A couple has two children diagnosed with an autosomal dominant genetic disease and asks the healthcare professional what the probability is that their next child will have the same genetic disease. What response by the professional is best?
a. One sixth
b. One fourth
c. One third
d. One half
16. When a child inherits a disease that is autosomal recessive, it is inherited from whom?
c. Both parents
17. People diagnosed with neurofibromatosis have varying degrees of the condition because of which genetic principle?
18. Which genetic disease has been linked to a mutation of the tumor-suppressor gene?
c. Familial breast cancer
d. Hemophilia A
19. Cystic fibrosis is caused by what type of gene?
a. X-linked dominant
b. X-linked recessive
c. Autosomal dominant
d. Autosomal recessive
20. Which is an important criterion for discerning autosomal recessive inheritance?
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.
21. Consanguinity refers to the mating of people in what situation?
a. Who are unrelated
b. When one has an autosomal dominant disorder
c. Having common family relations
d. When one has a chromosomal abnormality
22. Males, having only one X chromosome, are said to be what?
23. Males are more often affected by which type of genetic disease?
a. Sex-linked dominant
d. Sex-linked recessive
24. Why an X-linked recessive disease can skip generations?
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.
25. The presence of a zygote having one chromosome with the normal complement of genes and one with a missing gene is characteristic of which genetic disorder?
a. Cri du chat
b. Down syndrome
c. Klinefelter syndrome
d. Turner syndrome
26. A child with which genetic disorder has a characteristic cry?
a. Down syndrome
b. Klinefelter syndrome
c. Turner syndrome
d. Cri du chat
27. Which statement is true regarding X-linked recessive conditions?
a. Such diseases use males as phenotypical carriers.
b. These conditions are passed from affected father to all of his female children.
c. 25% of an affected individual’s grandsons will be affected.
d. Cystic fibrosis is an example of such a condition.
28. DNA formation occurs in which of the cell’s structures?
29. What is the risk for the recurrence of autosomal dominant diseases?
30. What is an individual’s genetic makeup called?
c. Heterozygous locus
d. Homozygous locus
1. Which disorders have similar modes of inheritance? (Select all that apply.)
a. Cri du chat syndrome
b. Duchenne muscular dystrophy
c. Polycystic kidney disease
d. Down syndrome
e. Becker muscular dystrophy
2. The key to accurate DNA replication depends on which complementary base pairs? (Select all that apply.)
a. Adenine with thymine
b. Adenine with guanine
c. Guanine with cytosine
d. Cytosine with thymine
e. Guanine with thymine
3. Chromosomal abnormalities are the leading known cause of what? (Select all that apply.)
a. Mental illness
b. Intellectual disability
c. Fetal miscarriage
d. Cardiovascular disease
e. Respiratory disorders
4. What are examples of prenatal diagnostic studies? (Select all that apply.)
a. Chorionic villus sampling (CVS)
c. Carrier screening
d. Preimplantation genetic diagnosis (PGD)
e. Drug-sensitivity testing
5. What advantage is derived from human genome sequencing on genetic disorders? (Select all that apply.)
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