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one parent is affected and about half of the progeny are affected
the sexes are equally affected
However, like most enzyme deficiency disorders, it is well documented that
alkaptonuria is an autosomal recessive trait. This paradox can be resolved by
collecting more data on the family. As can be seen on the right, there are two
consanguineous matings in the pedigree making the pattern of inheritance
consistent with an autosomal recessive trait. For rare, recessive traits, affected
parents must be related in some way if they are to produce affected offspring.
02/12/14 BIS101001, Spring 2013—Genes and Gene Expression, R.L. Rodriguez ©2013
BIS101001, Spring 2013—Genes and Gene Expression, R.L. Rodriguez 9 Homogentisic Acid Pathway
Ttr Gene Tyr transaminase tyrosine Ppo Gene p-OH-phenylpyruvate oxidase p-OH-phenylpyruvate Hgo Gene homogentisate
1,2 dioxygenase homogentisic acid maleylacetoacetate AKU is an excellent example of Bead...
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