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14 Cards in this Set

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What is the typical recurrence risk of autosomal dominant inheritance patterns?
50%, because only one allele is necessary in order to develop disease.
What is the transmission pattern of autosomal dominance inheritance as opposed to autosomal recessive inheritance?
dominant: vertical transmission (generation to generation)
recessive: horizontal transmission (lots of carriers)
Father to son transmission is a characteristic of which type of inheritance pattern?
Autosomal dominant inheritance
How is X-linked inheritance differentiated from autosomal dominant inheritance?
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.
What is the sex ratio for autosomal dominance inheritance?
50-50
What is the most common mating pair for autosomal dominant transmission?
(Aa) effected x (aa) normal

(AA): would typically have severe disease
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?
When:
1. penetrance is 100%
2. no delayed age of onset for the condition
When can you assume all affected individuals are heterozygous?
With autosomal dominant inheritance
What is the recurrence risk for autosomal recessive inheritance?
25%
What is the typical transmission pattern for autosomal recessive inheritance?
horizontal
What is the sex ratio for autosomal recessive inheritance?
50-50
Consanguinity is seen in what pattern of inheritance?
Consanguinity: relationship where partners share a common ancestor.

autosomal recessive
What is the most common mating pattern in autosomal recessive inheritance?
both parents are heterozygous carriers.
What is the 2/3 rule?
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.