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Genetic Disorders: Galactosemia, Lactose Intolerance, Tay-Sachs Disease, Lesch-Nyhan Syndrome

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Genetic Disorders: Galactosemia, Lactose Intolerance, Tay-Sachs Disease, Lesch-Nyhan Syndrome

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Questions and Answers

What is the main nutritional effect of galactosemia?

Inability to metabolize lactose
Inability to metabolize glucose
Inability to metabolize fructose
Inability to metabolize galactose (correct)

Which of the following genetic disorders typically has a delayed onset of phenotypic expression?

Huntington's disease
Duchene muscular dystrophy
Lesch-Nyhan syndrome
Tay-Sachs disease (correct)

What is the main nutritional effect of lactose intolerance?

Inability to metabolize fructose
Inability to metabolize lactose (correct)
Inability to metabolize glucose
Inability to metabolize galactose

What is the primary genetic defect in Lesch-Nyhan syndrome?

Defect in purine salvage enzyme (HPRTase) (B) Signup and view all the answers

What is the primary characteristic of genetic anticipation?

Earlier onset and increased severity with each generation (C) Signup and view all the answers

Which of the following genetic disorders is typically fatal by age 20?

Duchene muscular dystrophy (C) Signup and view all the answers

Which of the following statements about the biochemical basis of the ABO blood groups is correct?

The IA and IB alleles direct the addition of terminal sugar residues to the H substance. (B) Signup and view all the answers

Which of the following statements about the genetic basis of the ABO blood group system is correct?

The IA allele produces the A antigen, and the IB allele produces the B antigen. (A) Signup and view all the answers

What is the main difference between the A and B antigens and the H substance in the ABO blood group system?

The A and B antigens have terminal sugar residues added to the H substance. (B) Signup and view all the answers

Which of the following genotypes would result in the Bombay phenotype?

ii (D) Signup and view all the answers

What is the difference between the O blood type and the Bombay phenotype?

The O blood type has the H substance, while the Bombay phenotype does not. (A) Signup and view all the answers

Which of the following statements about the ABO blood group system is correct?

The A and B antigens are produced by the IA and IB alleles, respectively. (D) Signup and view all the answers

Which of the following is an example of epistasis?

The Bombay phenotype, where a mutation in the FUT1 gene masks the expression of the IA and IB alleles (D) Signup and view all the answers

Which of the following statements about hereditary deafness is true?

It is a result of the interaction of multiple genes (A) Signup and view all the answers

In the context of genetic disorders, what is genetic anticipation?

Both A and B (B) Signup and view all the answers

Which of the following is a characteristic of Tay-Sachs disease?

It is a recessive disorder caused by a deficiency in an enzyme involved in lipid metabolism (D) Signup and view all the answers

What is galactosemia?

A disorder caused by the inability to metabolize galactose, a sugar found in milk and dairy products (C) Signup and view all the answers

Which of the following statements about the nutritional effects of genetic disorders is true?

Genetic disorders can affect the body's ability to metabolize and utilize certain nutrients (D) Signup and view all the answers