The data below comes from a young couple who both have siblings with a genetic d
ID: 68273 • Letter: T
Question
The data below comes from a young couple who both have siblings with a genetic disorder of amino acid metabolism. The amino acid pathway that is disordered has 4 enzymes coded for by 4 independently assorting genes. You have the RFLP data collected from the couple (C1 and C2) their parents and their affected sibs (C1’s parents are P1 and P2 and the affected sib is S1) (C2’s parents are P3 and P4 and her affect sib is S2). Their parents are unaffected by the disorder. Each gene has an RFLP that is linked to the gene.
Based on this data is there a significant chance a child born to C1 and C2 will have the disorder?
Explain your reasoning.
Are C1 or C2 carriers for the disorder?
What assumption did you need to make to solve the problem?
What is the probably any child born to C1 and C2 will be a double carrier for the disorder?
RFLP FOR GENE 1
size
P1
P2
S1
C1
C2
S2
P3
P4
14kb
X
X
X
X
X
10kb
X
X
X
X
8kb
X
X
X
4kb
X
X
X
RFLP FOR GENE 2
size
P1
P2
S1
C1
C2
S2
P3
P4
16kb
X
X
X
X
X
10kb
X
X
X
X
6kb
X
X
X
2kb
X
X
X
RFLP FOR GENE 3
size
P1
P2
S1
C1
C2
S2
P3
P4
20kb
X
X
X
X
X
15kb
X
X
10kb
X
X
X
X
X
X
45Kb
X
X
RFLP FOR GENE 4
size
P1
P2
S1
C1
C2
S2
P3
P4
12kb
X
X
X
X
10kb
X
X
X
X
X
X
X
8kb
X
X
6kb
X
size
P1
P2
S1
C1
C2
S2
P3
P4
14kb
X
X
X
X
X
10kb
X
X
X
X
8kb
X
X
X
4kb
X
X
X
Explanation / Answer
Combined, Niemann-Pick disease types C1 and C2 are estimated to affect 1 in 150,000 individuals; however, type C1 is by far the more common type, accounting for 95 percent of cases. The disease occurs more frequently in people of French-Acadian descent in Nova Scotia. In Nova Scotia, a population of affected French-Acadians were previously designated as having Niemann-Pick disease type D, however, it was shown that these individuals have mutations in the gene associated with Niemann-Pick disease type C1.
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