Esmeralda Espitia
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patho 1 Quiz on Ch. 4 gene and diseases, created by Esmeralda Espitia on 03/02/2022.

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Esmeralda Espitia
Created by Esmeralda Espitia almost 3 years ago
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Ch. 4 gene and diseases

Question 1 of 35

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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?

Select one of the following:

  • a. Virus

  • b. Bacteria

  • c. RNA polymerase

  • d. Recombinant DNA

Explanation

Question 2 of 35

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

Select one or more of the following:

  • 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

Explanation

Question 3 of 35

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3. How is transcription best defined?

Select one or more of the following:

  • 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.

Explanation

Question 4 of 35

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4. What is the purpose of using a Giemsa staining technique on chromosomes?

Select one or more of the following:

  • 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.

Explanation

Question 5 of 35

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5. An amniocentesis indicates a neural tube defect when an increase in which protein is evident?

Select one or more of the following:

  • a. Cytochrome P-450

  • b. Alpha fetoprotein

  • c. DNA polymerase

  • d. Embryonic proteins

Explanation

Question 6 of 35

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6. Amniocentesis is recommended for pregnant with what history?

Select one or more of the following:

  • 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

Explanation

Question 7 of 35

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

Select one or more of the following:

  • a. Gene mapping

  • b. Linkage analysis

  • c. Amniocentesis

  • d. Chorionic villus sampling

Explanation

Question 8 of 35

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8. What is the term for an error in which homologous chromosomes fail to separate during meiosis or mitosis?

Select one or more of the following:

  • a. Aneuploidy

  • b. Nondisjunction

  • c. Polyploidy

  • d. Translocation

Explanation

Question 9 of 35

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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?

Select one or more of the following:

  • 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

Explanation

Question 10 of 35

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10. What is the most common cause of Down syndrome?

Select one or more of the following:

  • a. Paternal nondisjunction

  • b. Maternal translocations

  • c. Maternal nondisjunction

  • d. Paternal translocation

Explanation

Question 11 of 35

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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?

Select one or more of the following:

  • a. Down

  • b. Cri du chat

  • c. Turner

  • d. Klinefelter

Explanation

Question 12 of 35

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12. A person with 47, XXY karyotype has the genetic disorder resulting in which syndrome?

Select one or more of the following:

  • a. Turner

  • b. Klinefelter

  • c. Down

  • d. Fragile X

Explanation

Question 13 of 35

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

Select one or more of the following:

  • a. Down syndrome

  • b. Fragile X syndrome

  • c. Klinefelter syndrome

  • d. Turner syndrome

Explanation

Question 14 of 35

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

Select one or more of the following:

  • a. A

  • b. B

  • c. O

  • d. AB

Explanation

Question 15 of 35

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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?

Select one or more of the following:

  • a. One sixth

  • b. One fourth

  • c. One third

  • d. One half

Explanation

Question 16 of 35

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

Select one or more of the following:

  • a. Father

  • b. Mother

  • c. Both parents

  • d. Grandparent

Explanation

Question 17 of 35

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

Select one or more of the following:

  • a. Penetrance

  • b. Expressivity

  • c. Dominance

  • d. Recessiveness

Explanation

Question 18 of 35

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18. Which genetic disease has been linked to a mutation of the tumor-suppressor gene?

Select one or more of the following:

  • a. Hemochromatosis

  • b. Retinoblastoma

  • c. Familial breast cancer

  • d. Hemophilia A

Explanation

Question 19 of 35

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19. Cystic fibrosis is caused by what type of gene?

Select one or more of the following:

  • a. X-linked dominant

  • b. X-linked recessive

  • c. Autosomal dominant

  • d. Autosomal recessive

Explanation

Question 20 of 35

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20. Which is an important criterion for discerning autosomal recessive inheritance?

Select one or more of the following:

  • 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.

Explanation

Question 21 of 35

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21. Consanguinity refers to the mating of people in what situation?

Select one or more of the following:

  • a. Who are unrelated

  • b. When one has an autosomal dominant disorder

  • c. Having common family relations

  • d. When one has a chromosomal abnormality

Explanation

Question 22 of 35

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

Select one or more of the following:

  • a. Homozygous

  • b. Heterozygous

  • c. Hemizygous

  • d. Ambizygous

Explanation

Question 23 of 35

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

Select one or more of the following:

  • a. Sex-linked dominant

  • b. Sex-influenced

  • c. Sex-linked

  • d. Sex-linked recessive

Explanation

Question 24 of 35

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24. Why an X-linked recessive disease can skip generations?

Select one or more of the following:

  • 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.

Explanation

Question 25 of 35

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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?

Select one or more of the following:

  • a. Cri du chat

  • b. Down syndrome

  • c. Klinefelter syndrome

  • d. Turner syndrome

Explanation

Question 26 of 35

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26. A child with which genetic disorder has a characteristic cry?

Select one or more of the following:

  • a. Down syndrome

  • b. Klinefelter syndrome

  • c. Turner syndrome

  • d. Cri du chat

Explanation

Question 27 of 35

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27. Which statement is true regarding X-linked recessive conditions?

Select one or more of the following:

  • 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.

Explanation

Question 28 of 35

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28. DNA formation occurs in which of the cell’s structures?

Select one or more of the following:

  • a. Nucleus

  • b. Cytoplasm

  • c. Organelle

  • d. Membrane

Explanation

Question 29 of 35

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

Select one or more of the following:

  • a. 10%

  • b. 30%

  • c. 50%

  • d. 70%

Explanation

Question 30 of 35

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30. What is an individual’s genetic makeup called?

Select one or more of the following:

  • a. Phenotype

  • b. Genotype

  • c. Heterozygous locus

  • d. Homozygous locus

Explanation

Question 31 of 35

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

Select one or more of the following:

  • a. Cri du chat syndrome

  • b. Duchenne muscular dystrophy

  • c. Polycystic kidney disease

  • d. Down syndrome

  • e. Becker muscular dystrophy

Explanation

Question 32 of 35

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2. The key to accurate DNA replication depends on which complementary base pairs? (Select all that apply.)

Select one or more of the following:

  • a. Adenine with thymine

  • b. Adenine with guanine

  • c. Guanine with cytosine

  • d. Cytosine with thymine

  • e. Guanine with thymine

Explanation

Question 33 of 35

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3. Chromosomal abnormalities are the leading known cause of what? (Select all that apply.)

Select one or more of the following:

  • a. Mental illness

  • b. Intellectual disability

  • c. Fetal miscarriage

  • d. Cardiovascular disease

  • e. Respiratory disorders

Explanation

Question 34 of 35

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4. What are examples of prenatal diagnostic studies? (Select all that apply.)

Select one or more of the following:

  • a. Chorionic villus sampling (CVS)

  • b. Amniocentesis

  • c. Carrier screening

  • d. Preimplantation genetic diagnosis (PGD)

  • e. Drug-sensitivity testing

Explanation

Question 35 of 35

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

Select one or more of the following:

  • 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

Explanation

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