Genetics in Medicine

Medicine

Quiz 12 :

The Molecular, Biochemical, and Cellular Basis of Genetic Disease

Quiz 12 :

The Molecular, Biochemical, and Cellular Basis of Genetic Disease

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In contrast to mutations associated with Duchenne muscular dystrophy, what is a feature of the mutations associated with Becker muscular dystrophy?
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D

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a1-antitrypsin deficiency leads to excess activity of which enzyme?
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A

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Which of the following is the most common CFTR mutation in white populations?
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D

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Mutations in the dystrophin gene cause which phenotype?
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What observation has facilitated genetic testing for Tay-Sachs disease in the Ashkenazi Jewish population?
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What inheritance pattern is most common for metabolic disorders?
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How can a single gene defect lead to multiple enzyme deficiencies?
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What environmental exposure greatly influences the life expectancy of individuals with the ZZ genotype for a1-antitrypsin deficiency?
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Variation in which familial hypercholesterolemia-causing gene has also been associated with protection from coronary artery disease and high cholesterol levels in general populations?
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The finding that fibroblasts from a patient with X-linked Hurler syndrome could correct the defect in fibroblasts from a patient with autosomal recessive Hurler syndrome (and vice versa) demonstrated what about the two disorders?
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Which of the following phenotypes is found in people with mutations in cystic fibrosis transmembrane conductance regulator (CFTR)?
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Which of the following properties allows enzyme replacement therapy to work for some lysosomal storage disorders?
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The genes associated with familial hypercholesterolemia all have an effect on which protein?
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Which of the following is the major cause of chronic pulmonary infection in individuals with cystic fibrosis?
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Which patients with mutations in phenylalanine hydroxylase are most likely to respond to BH₄ supplementation?
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What phenomenon has a large effect on the phenotype of female carriers of dystrophin mutations?
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Where are GM2 ganglioside and mucopolysaccharides digested?
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If an infant is found to have hyperphenylalaninemia based on a newborn screen, but this defect doesn't respond to a low phenylalanine diet, what type of molecular defect would be suspected?
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Why can vitamins be used to treat some enzymatic defects?
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Genetic defects that impair the activity of methionine synthase are mimicked by a dietary deficiency of which vitamin?
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