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10 Cards in this Set
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- Back
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What is consanguinity and why does it possess an increased risk for autosomal recessive disorders?
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Consanguinity refers to people with common ancestry...it is more likely that mating of close blood relatives will produce offspring homozygous for a harmful recessive trait.
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What are characteristics of an autosomal recessive disorder in a family pedigree?
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- two mutant genes required to cause disease
- males/females equally affected - parents can be unaffected but carriers - child of an affected person is (at least) an obligate carrier |
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If both parents are obligate carriers of an autosomal recessive disorder, what are the chances that an offspring will be affected with the same disorder?
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1 in 4
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In an autosomal recessive disorder, what are the chances of non-affected children to be carriers if both parents are carriers?
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2 out of 3
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T or F. A trait/condition usually cannot be more common based on ethnic populations.
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F.
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Phenylketonuria (PKU) is due to an abundance of what amino acid?
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Phenylalanine.
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What disease is a lysosomal storage disorder that is more commonly found among Ashkenazic Jewish populations?
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Tay-Sachs disease.
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T or F. If a condition is rare, it is more likely that consanguinity exists.
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T.
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In the case of sex chromosome inheritance diseases, what are the chances of daughters being carriers if their mothers were carriers as well? What about the sons?
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50%; 50%
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In the case of sex chromosome inheritance diseases, what are the chances of daughters being carriers if their fathers were carriers as well? What about the sons?
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All daughters of affected males are carriers, while all sons of affected males are "normal."
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