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

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What is the main nutritional effect of galactosemia?

Inability to metabolize galactose

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

Tay-Sachs disease

What is the main nutritional effect of lactose intolerance?

Inability to metabolize lactose

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

Defect in purine salvage enzyme (HPRTase)

What is the primary characteristic of genetic anticipation?

Earlier onset and increased severity with each generation

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

Duchene muscular dystrophy

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.

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.

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.

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

ii

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.

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.

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

Which of the following statements about hereditary deafness is true?

It is a result of the interaction of multiple genes

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

Both A and B

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

What is galactosemia?

A disorder caused by the inability to metabolize galactose, a sugar found in milk and dairy products

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

This quiz covers genetic disorders including galactosemia and lactose intolerance affecting the metabolism of galactose and lactose, as well as Tay-Sachs disease and Lesch-Nyhan syndrome with delayed onset of phenotypic expression and lethal outcomes. Test your knowledge on these genetic conditions.

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