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14 Cards in this Set
- Front
- Back
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What is the typical recurrence risk of autosomal dominant inheritance patterns?
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50%, because only one allele is necessary in order to develop disease.
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What is the transmission pattern of autosomal dominance inheritance as opposed to autosomal recessive inheritance?
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dominant: vertical transmission (generation to generation)
recessive: horizontal transmission (lots of carriers) |
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Father to son transmission is a characteristic of which type of inheritance pattern?
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Autosomal dominant inheritance
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How is X-linked inheritance differentiated from autosomal dominant inheritance?
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Both exhibit vertical transmission, but X linked inheritance does not allow male to male transmission, where autosomal dominnant inheritance is characterized by father to son transmission.
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What is the sex ratio for autosomal dominance inheritance?
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50-50
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What is the most common mating pair for autosomal dominant transmission?
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(Aa) effected x (aa) normal
(AA): would typically have severe disease |
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When examining a pedigree that is suspected to exhibit autosomal dominant inheritance, when can it be assume that all unaffected individuals are homozygous recessive for the affected gene?
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When:
1. penetrance is 100% 2. no delayed age of onset for the condition |
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When can you assume all affected individuals are heterozygous?
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With autosomal dominant inheritance
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What is the recurrence risk for autosomal recessive inheritance?
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25%
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What is the typical transmission pattern for autosomal recessive inheritance?
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horizontal
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What is the sex ratio for autosomal recessive inheritance?
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50-50
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Consanguinity is seen in what pattern of inheritance?
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Consanguinity: relationship where partners share a common ancestor.
autosomal recessive |
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What is the most common mating pattern in autosomal recessive inheritance?
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both parents are heterozygous carriers.
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What is the 2/3 rule?
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For autosomal recessive inheritance:
probability that an unaffected individual is a carrier when there is an affected individual in the sibship, or you know both parents are carriers. Because homozygous recessive possibility is eliminated, so its always 2/3 Aa (carriers) to 1/3 AA. |
