Question: A rare autosomal recessive disorder causes pink hair. A non-carrier male and an affected female marry. Consider the following pedigree and RFLP analysis prepared using HindIII, Southern blot, and a probe with a human sequence known to hybridize to sequences closely linked to the gene responsible for this disorder.
a. Diagram each of the different haplotypes (group of markers that tend to be transmitted together because of linkage) of I-1 and I-2 showing the restriction map and fragment lengths. Show all HindIII restriction sites on each map.
b. On the restriction map, indicate the area to which the radioactive probe must hybridize in order to detect the fragments seen by Southern analysis.
c. To which haplotypes (essentially pattern of each chromosome) does the mutant allele of the gene seem to be linked in this family.
d. Why does individual III-1 only show one band in the RFLP analysis?
e. Which individuals are probably carriers?
Creating the different haplotypes
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