Question

Alkaptonuria (AKU) is a rare autosomal disorder that causes defects in metabolism of the amino acids phenylalanine and tyrosine. Based on the pedigree below, what is the chance that individual IV-1 will display this trait?

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a. 1/16 b. 1/12 c. 1/24 d. 1/18 e. 1/8

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Answer #1

AKU is rare autosomal recessive (as in pedigree two of normal parents have a diseased offspring) disorder. To find out the chances of IV-1 will show the trait or not, lets find out the probability of their parents to be hetrozygous( parents are not homozyous recessive because they do not show the trait, and both parents should have atleast one recessive allele to have a diseased offspring).

IV-1 Father genotype- Brother of IV-1 father have the trait that suggest both of their parents are hetrozygous and probability of IV-1 fathers to be hetrozygous is 2/3(as recessive homozygous condition is not possible as he does not show trait)

IV-1 mother genotype- Her father is certainly hetrozygous as he recieves allele from diseased mother and lets assume her mother normal homozygous (as stated above that this trait is rare). So the probability of IV-1 to be hetrozygous is 1/2.

If both the parents are hetrozygous possibility of offspring showing the trait is 1/4

Possibilty of IV-1 to show the trait is 2/3*1/2*1/4=1/12(option b)

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