Exam 16: Human Genetics and the Human Genome

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Hemophilia A is an example of a(n) _____ disease and is characterized by a lack of blood-clotting factor ____.

(Multiple Choice)
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What is genetic counseling? Briefly explain the role of a genetic counselor.

(Essay)
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Discuss the necessity and benefits of the Genetic Information Nondiscrimination Act (GINA) of 2008.

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In a chromosomal inversion, a segment of a chromosome is:

(Multiple Choice)
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A fragile site:

(Multiple Choice)
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Genetic screening can be used to identify:

(Multiple Choice)
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A karyotype reveals that an individual is XYY. Based on your knowledge of human genetics, you correctly conclude that this individual has ____, and is a phenotypically _____.

(Multiple Choice)
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Turner syndrome is an example of a __________ condition.

(Multiple Choice)
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Males with Klinefelter syndrome lack a Barr Body. _______________

(True/False)
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Match the genetic disease with the molecular defect.
hemoglobin molecules stick to each other
Tays Sach Disease
absence of an enzyme to break down normal membrane lipid
Cystic fibrosis
defect in the protein that regulates chloride transport across cell membranes
Hemophilia A
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hemoglobin molecules stick to each other
Tays Sach Disease
absence of an enzyme to break down normal membrane lipid
Cystic fibrosis
defect in the protein that regulates chloride transport across cell membranes
Hemophilia A
abnormality in a blood clotting protein
Phenylketonuria
defect in amino acid metabolism
Sickle cell anemia
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Which statement accurately characterizes an ethical consideration surrounding human genetics?

(Multiple Choice)
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Cri du chat syndrome arises from:

(Multiple Choice)
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In fragile X syndrome, the fragile X gene contains a nucleotide triplet that repeats 200-1000 times.

(True/False)
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Nearly half of the pregnancies that end in miscarriage have:

(Multiple Choice)
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Genome-wide association scans compare the proteins of individuals with a particular disease to individuals without the disease. _________________

(True/False)
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