inherited disorders involving recessive and dominant alleles Flashcards

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1
Q

metabolic disease that is
caused by a buildup of Phenylalanine in the body due to an enzyme deficiency, particularly the hepatic enzyme Phenylalanine Hydroxylase (PAH).

A

PHENYLKETONURIA (PKU)

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2
Q

Most commonly occurring in
children, that results in progressive
destruction of the nervous system.

A

TAY-SACHS DISEASE (TSD)

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3
Q

People with ——– can not convert the amino acid Phenylalanine to Tyrosine due to a mutation in the gene that codes for PAH.

A

PHENYLKETONURIA (PKU)

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4
Q

caused by the absence of a vital
enzyme called hexosaminidase-A
(Hex-A).

A

● TAY-SACHS DISEASE (TSD)

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5
Q

—– is caused by an inherited detect in a single gene (HTT). —— is an autosomal dominant disorder, a person needs only one copy of the defective gene.

A

Huntington’s disease

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6
Q

Huntington’s disease isnt expressed until when?

A

mid-life

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