Genetics in Medicine

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

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

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

Mutations in the dystrophin gene cause which phenotype?

What observation has facilitated genetic testing for Tay-Sachs disease in the Ashkenazi Jewish population?

What inheritance pattern is most common for metabolic disorders?

How can a single gene defect lead to multiple enzyme deficiencies?

What environmental exposure greatly influences the life expectancy of individuals with the ZZ genotype for a1-antitrypsin deficiency?

Variation in which familial hypercholesterolemia-causing gene has also been associated with protection from coronary artery disease and high cholesterol levels in general populations?

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?

Which of the following phenotypes is found in people with mutations in cystic fibrosis transmembrane conductance regulator (CFTR)?

Which of the following properties allows enzyme replacement therapy to work for some lysosomal storage disorders?

The genes associated with familial hypercholesterolemia all have an effect on which protein?

Which of the following is the major cause of chronic pulmonary infection in individuals with cystic fibrosis?

Which patients with mutations in phenylalanine hydroxylase are most likely to respond to BH₄ supplementation?

What phenomenon has a large effect on the phenotype of female carriers of dystrophin mutations?

Where are GM2 ganglioside and mucopolysaccharides digested?

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?

Why can vitamins be used to treat some enzymatic defects?

Genetic defects that impair the activity of methionine synthase are mimicked by a dietary deficiency of which vitamin?