Exam 4: Gene Function

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What is an essential amino acid? Give an example.

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Which of the following is a sex-linked disorder?

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You are a doctor who specializes in genetic diseases.A married couple comes to see you for genetic counseling.The woman has PKU,the symptoms of which she manages by diet.The man and woman are first cousins and would like to know the probability that any of their children will have the disease.What would you tell them?

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Please select the best match for each term.
Hypoglycemia
Hexosaminidase A
Lesch-Nyhan syndrome
Homogentisic acid oxidase
Galactosemia
Fructose-1,6-diphosphatase
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Hypoglycemia
Hexosaminidase A
Lesch-Nyhan syndrome
Homogentisic acid oxidase
Galactosemia
Fructose-1,6-diphosphatase
Tay-Sachs disease
Galactose-1-phosphate uridyl transferase
Alkaptonuria
Hypoxanthine guanine phosphoribosyltransferase
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A mutation that has pleiotropic consequences

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In people who do not have Tay-Sachs disease,the hexA gene encodes an enzyme that

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The Guthrie test screens for excessive phenylalanine in the blood of infants.

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You discover a mutant strain of Neurospora crassa that will not grow on a minimal medium but that will grow on a medium supplemented by the amino acid methionine.How can you determine which step in the methionine synthesis pathway is affected by the mutation?

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How do scientists,lacking the ability to make controlled genetic crosses in humans,study the inheritance of and give genetic counseling on human genetic disorders?

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Because Lesch-Nyhan syndrome is a recessive X-linked disease,females who have an allele with the mutation responsible for this disease are generally symptom-free.

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Cystic fibrosis is an autosomal recessive disorder.What is the chance that two carrier parents will have an affected child?

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The sickle-cell mutant allele and wild-type β-globin allele are codominant.

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Explain the difference between the one-gene-one-enzyme hypothesis and the one-gene-one-polypeptide hypothesis.

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While the defective gene product in patients with PKU was identified using biochemical analysis,how was the cystic fibrosis gene identified?

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A mutagen is

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Albinism is caused by an inborn error of metabolism.

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A person with sickle-cell trait has ________ at the β-globin locus.

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Auxotrophs are organisms that can grow

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The cystic fibrosis gene (CFTR)codes for a protein that is essential for

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What was the significance of Beadle and Tatum's experiment?

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