The autosomal dominant polycystic kidney disease gene in a Jewish family from Uzbekistan is PKD1.

A large Jewish family from Tashkent (Uzbekistan) was studied for linkage of autosomal dominant polycystic kidney disease (ADPKD) to molecular markers on the short arm of chromosome 16. A restriction fragment length polymorphism (RFLP) analysis was performed on 28 family members, including 9 ADPKD diagnosed patients in 3 consecutive generations. A specific haplotype was found to segregate with the disease in eight of the nine affected individuals. The peak lod scores for linkage between the disease phenotype and the five informative flanking markers were: 3'HVR 1.70 at theta = 0.08; GGG1 1.18 at theta = 0.001; CMM65 1.50 at theta = 0.001; 26-6 0.86 at theta = 0.001 and 218EP6 1.39 at theta = 0.001. A particular haplotype of these markers segregated with the disease phenotype. The peak lod score of this haplotype was 3.046. Homogeneity test, comparing this family to 40 PKD European families, showed that the conditional probability that it belongs to the same group is 1.000. Taken together, these findings show that the defective gene in this Jewish family from Uzbekistan is PKD1. To our knowledge, this is the first ADPKD family in Israel in whom linkage studies were performed and one of the few originating from populations outside the Western world.