Exam 16: Human Genetics and the Human Genome

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Polyploidy:

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Compare the following three terms: polyploidy, aneuploidy, and nondisjunction. Briefly discuss examples of each of these conditions.

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Human genetics can be most effectively studied using:

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Persons having an XO karyotype are sterile females. They have ____ syndrome.

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Geneticists study pedigrees in order to predict how traits determined by phenotype are inherited from one generation to the next.

(True/False)
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An advantage of chorionic villus sampling (compared with amniocentesis) is that:

(Multiple Choice)
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Match the term with the corresponding condition.
Premises:
Jacobsen syndrome, in which part of chromosome 11 is missing
Responses:
insertion
fragile site
translocation
Correct Answer:
Verified
Premises:
Responses:
Jacobsen syndrome, in which part of chromosome 11 is missing
insertion
(Matching)
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Autosomal monosomy is not seen in live births because:

(Multiple Choice)
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Maternal PKU can result in serious effects in fetuses. This problem occurs because:

(Multiple Choice)
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Figure 16-2 Figure 16-2   Refer to the accompanying figure. Based on the phenotypes of the third generation, the genotype of the father in the second generation must be: Refer to the accompanying figure. Based on the phenotypes of the third generation, the genotype of the father in the second generation must be:

(Multiple Choice)
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A fragile site:

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Tay-Sachs disease is a(n) ____ disease that results in blindness, intellectual disability, and death due to ____.

(Multiple Choice)
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Which statement accurately characterizes an ethical consideration surrounding human genetics?

(Multiple Choice)
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Match the genetic disease with the molecular defect.
Premises:
defect in amino acid metabolism
Responses:
cystic fibrosis
hemophilia A
sickle cell anemia
Correct Answer:
Verified
Premises:
Responses:
defect in amino acid metabolism
cystic fibrosis
(Matching)
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Why has the dominant mutant allele for Huntington's disease been able to persist in human populations despite its devastating effects?

(Multiple Choice)
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In genomic imprinting:

(Multiple Choice)
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Preimplantation genetic diagnosis is done:

(Multiple Choice)
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Down syndrome is characterized by:

(Multiple Choice)
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Identify and briefly describe the potential disadvantages of gene therapy.

(Essay)
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Match the genetic disease with the molecular defect.
Premises:
abnormality in a blood clotting protein
Responses:
phenylketonuria
Tay-Sachs disease
cystic fibrosis
Correct Answer:
Verified
Premises:
Responses:
abnormality in a blood clotting protein
phenylketonuria
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