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Ch. 4 gene and diseases

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patho 1 Quiz sobre Ch. 4 gene and diseases, criado por Esmeralda Espitia em 03-02-2022.
Esmeralda Espitia
Quiz por Esmeralda Espitia, atualizado more than 1 year ago
Esmeralda Espitia
Criado por Esmeralda Espitia quase 3 anos atrás
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Resumo de Recurso

Questão 1

Questão
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?
Responda
  • a. Virus
  • b. Bacteria
  • c. RNA polymerase
  • d. Recombinant DNA

Questão 2

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

Questão 3

Questão
3. How is transcription best defined?
Responda
  • 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.

Questão 4

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

Questão 5

Questão
5. An amniocentesis indicates a neural tube defect when an increase in which protein is evident?
Responda
  • a. Cytochrome P-450
  • b. Alpha fetoprotein
  • c. DNA polymerase
  • d. Embryonic proteins

Questão 6

Questão
6. Amniocentesis is recommended for pregnant with what history?
Responda
  • 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

Questão 7

Questão
7. What is the technique for prenatal diagnosis of chromosomal abnormalities at 10 to 12 weeks’ gestation?
Responda
  • a. Gene mapping
  • b. Linkage analysis
  • c. Amniocentesis
  • d. Chorionic villus sampling

Questão 8

Questão
8. What is the term for an error in which homologous chromosomes fail to separate during meiosis or mitosis?
Responda
  • a. Aneuploidy
  • b. Nondisjunction
  • c. Polyploidy
  • d. Translocation

Questão 9

Questão
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?
Responda
  • 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

Questão 10

Questão
10. What is the most common cause of Down syndrome?
Responda
  • a. Paternal nondisjunction
  • b. Maternal translocations
  • c. Maternal nondisjunction
  • d. Paternal translocation

Questão 11

Questão
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?
Responda
  • a. Down
  • b. Cri du chat
  • c. Turner
  • d. Klinefelter

Questão 12

Questão
12. A person with 47, XXY karyotype has the genetic disorder resulting in which syndrome?
Responda
  • a. Turner
  • b. Klinefelter
  • c. Down
  • d. Fragile X

Questão 13

Questão
13. What is the second most commonly recognized genetic cause of intellectual disability?
Responda
  • a. Down syndrome
  • b. Fragile X syndrome
  • c. Klinefelter syndrome
  • d. Turner syndrome

Questão 14

Questão
14. What is the blood type of a person who is heterozygous, having A and B alleles as codominant?
Responda
  • a. A
  • b. B
  • c. O
  • d. AB

Questão 15

Questão
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?
Responda
  • a. One sixth
  • b. One fourth
  • c. One third
  • d. One half

Questão 16

Questão
16. When a child inherits a disease that is autosomal recessive, it is inherited from whom?
Responda
  • a. Father
  • b. Mother
  • c. Both parents
  • d. Grandparent

Questão 17

Questão
17. People diagnosed with neurofibromatosis have varying degrees of the condition because of which genetic principle?
Responda
  • a. Penetrance
  • b. Expressivity
  • c. Dominance
  • d. Recessiveness

Questão 18

Questão
18. Which genetic disease has been linked to a mutation of the tumor-suppressor gene?
Responda
  • a. Hemochromatosis
  • b. Retinoblastoma
  • c. Familial breast cancer
  • d. Hemophilia A

Questão 19

Questão
19. Cystic fibrosis is caused by what type of gene?
Responda
  • a. X-linked dominant
  • b. X-linked recessive
  • c. Autosomal dominant
  • d. Autosomal recessive

Questão 20

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

Questão 21

Questão
21. Consanguinity refers to the mating of people in what situation?
Responda
  • a. Who are unrelated
  • b. When one has an autosomal dominant disorder
  • c. Having common family relations
  • d. When one has a chromosomal abnormality

Questão 22

Questão
22. Males, having only one X chromosome, are said to be what?
Responda
  • a. Homozygous
  • b. Heterozygous
  • c. Hemizygous
  • d. Ambizygous

Questão 23

Questão
23. Males are more often affected by which type of genetic disease?
Responda
  • a. Sex-linked dominant
  • b. Sex-influenced
  • c. Sex-linked
  • d. Sex-linked recessive

Questão 24

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

Questão 25

Questão
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?
Responda
  • a. Cri du chat
  • b. Down syndrome
  • c. Klinefelter syndrome
  • d. Turner syndrome

Questão 26

Questão
26. A child with which genetic disorder has a characteristic cry?
Responda
  • a. Down syndrome
  • b. Klinefelter syndrome
  • c. Turner syndrome
  • d. Cri du chat

Questão 27

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

Questão 28

Questão
28. DNA formation occurs in which of the cell’s structures?
Responda
  • a. Nucleus
  • b. Cytoplasm
  • c. Organelle
  • d. Membrane

Questão 29

Questão
29. What is the risk for the recurrence of autosomal dominant diseases?
Responda
  • a. 10%
  • b. 30%
  • c. 50%
  • d. 70%

Questão 30

Questão
30. What is an individual’s genetic makeup called?
Responda
  • a. Phenotype
  • b. Genotype
  • c. Heterozygous locus
  • d. Homozygous locus

Questão 31

Questão
1. Which disorders have similar modes of inheritance? (Select all that apply.)
Responda
  • a. Cri du chat syndrome
  • b. Duchenne muscular dystrophy
  • c. Polycystic kidney disease
  • d. Down syndrome
  • e. Becker muscular dystrophy

Questão 32

Questão
2. The key to accurate DNA replication depends on which complementary base pairs? (Select all that apply.)
Responda
  • a. Adenine with thymine
  • b. Adenine with guanine
  • c. Guanine with cytosine
  • d. Cytosine with thymine
  • e. Guanine with thymine

Questão 33

Questão
3. Chromosomal abnormalities are the leading known cause of what? (Select all that apply.)
Responda
  • a. Mental illness
  • b. Intellectual disability
  • c. Fetal miscarriage
  • d. Cardiovascular disease
  • e. Respiratory disorders

Questão 34

Questão
4. What are examples of prenatal diagnostic studies? (Select all that apply.)
Responda
  • a. Chorionic villus sampling (CVS)
  • b. Amniocentesis
  • c. Carrier screening
  • d. Preimplantation genetic diagnosis (PGD)
  • e. Drug-sensitivity testing

Questão 35

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

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