:: Student
Projects ::
Genetic analysis of hereditary hemochromatosis
(HHC) by Ryan Roten.
HHC is an autosomal recessive disorder which leads
to increased iron absorption; once diagnosed, treatment
is simple and effective but if untreated it can cause
serious damage especially to the liver. Two different
alleles are associated with the disease (though not
completely penetrant), and both are single nucleotide
changes which result in single amino acid substitutions.
Ryan is extracting DNA from various members of a family
with one member who is known to have HHC. He then uses
PCR to amplify the two regions including the point mutations
associated with the disease, and performs a diagnostic
restriction digest to determine the genotype at these
two sites.
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