There is locus heterogeneity in APKD with at least three loci
identified by linkage studies and two genes cloned. The gene
for APKD1 on chromosome 16p encodes a protein called
polycystin-1, which is an integral membrane protein involved in
cell–cell/matrix interactions. The protein encoded by the gene
for APKD2 on chromosome 4 has been called polycystin-2.
Mutation analysis is not routinely undertaken, but linkage
studies may be used in conjunction with ultrasound scanning to
detect asymptomatic gene carriers.
Saturday, April 11, 2009
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