Article
The autosomal dominant polycystic kidney disease gene in a Jewish family from Uzbekistan is PKD1.
Israel journal of medical sciences - 1 Oct 1992
Frisch A, Frydman M, Blau O, Narinsky R, Morduchowicz G, Boner G, Bachner L, Steinherz R
Abstract excerpt
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...
Topics
- Adolescent
- Adult
- Aged
- Blotting, Southern
- Child
- Chromosome Mapping
- Chromosomes, Human, Pair 16
- Emigration and Immigration
- Evaluation Studies as Topic
- Female
- Gene Frequency