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14 Cards in this Set

  • Front
  • Back
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?
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?
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?
What is the typical transmission pattern for autosomal recessive inheritance?
What is the sex ratio for autosomal recessive inheritance?
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.