Exam 16: Human Genetics and the Human Genome

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Compare the benefits and risks associated with amniocentesis and chorionic villus sampling.

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Polyploidy is the:

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Briefly illustrate how nondisjunction in meiosis can result in Down syndrome.

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

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Discuss the necessity and benefits of the Genetic Information Nondiscrimination Act (GIN A) of 2008.

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What are the predicted phenotypes of the children from a union of a woman who is heterozygous for hemophilia and a man who is normal? (Use the Punnett square to verify your answer.) What are the predicted phenotypes of the children from a union of a woman who is heterozygous for hemophilia and a man who is normal? (Use the Punnett square to verify your answer.)

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Down syndrome is an example of a ____ condition.

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Match the term with the corresponding condition.
Premises:
de la Chapelle syndrome, in which an unequal crossing over event between the X and Y chromosomes during spermatogenesis results in the transfer of part of the Y chromosome to the X chromosome, resulting in an XX male
Responses:
translocation
insertion
inversion
Correct Answer:
Verified
Premises:
Responses:
de la Chapelle syndrome, in which an unequal crossing over event between the X and Y chromosomes during spermatogenesis results in the transfer of part of the Y chromosome to the X chromosome, resulting in an XX male
translocation
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Figure 16-2 Figure 16-2   The genotypes of the normal females in the second generation in accompanying figure are: The genotypes of the normal females in the second generation in accompanying figure are:

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The Human Genome Project was completed in 2012 and revealed a genomic map of 38 million SNPs.

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The position of a specific gene on a chromosome can be determined by:

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Karyotyping is useful for determining:

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Match the term with the corresponding condition.
Premises:
Philadelphia chromosome, in which parts of chromosomes 9 and 22 switch places; strongly associated with chronic myelogenous leukemia
Responses:
inversion
deletion
genomic imprinting
Correct Answer:
Verified
Premises:
Responses:
Philadelphia chromosome, in which parts of chromosomes 9 and 22 switch places; strongly associated with chronic myelogenous leukemia
inversion
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FISH distinguishes chromosomes by using more than one fluorescent-tagged RNA strand, which will bind to complementary DNA sequences on a specific chromosome.

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Sickle cell anemia and cystic fibrosis are examples of a homozygote advantage.

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What was revealed with the completion of the Human Genome Project?

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Nondisjunction of the XY pair during the first meiotic division can produce sperm with 2 X chromosomes and 2 Y chromosomes.

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Which of the following are inborn errors of metabolism?

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Match the genetic disease with the molecular defect.
Premises:
defect in the protein that regulates chloride transport across cell membranes
Responses:
hemophilia A
sickle cell anemia
cystic fibrosis
Correct Answer:
Verified
Premises:
Responses:
defect in the protein that regulates chloride transport across cell membranes
hemophilia A
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Genome-wide association scans compare the proteins of individuals with a disease to individuals without the disease.

(True/False)
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