Genetic analysis of Cuban autosomal dominant polycystic kidney disease kindreds using RFLPs and microsatellite polymorphisms linked to the PKD1 locus
✍ Scribed by Miguel Viribay; Raúl Ferreira; Blén Perai; Daisy Bello; Christopher J. Ward; José Dávalos; Carlos Valle; Peter C. Harris; Dora Méndez Castillo; Felipe Moreno; José L. San Millan
- Publisher
- Springer
- Year
- 1994
- Tongue
- English
- Weight
- 419 KB
- Volume
- 94
- Category
- Article
- ISSN
- 0340-6717
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✦ Synopsis
We report on linkage analysis and haplotype characterization in 12 Cuban families with autosomal dominant polycystic kidney disease (ADPK) using PKDl-linked markers. They included both standard restriction fragment length polymorphisms (26.6., BLu24, and pGGGI) as well as microsatellite polymorphisms (CW2, 16AC2.5, and SM6). All of the examined families were fully informative for genetic diagnosis and no evidence of unlinked families was found. Analysis of two recombination events places PKDI distal to the marker BLu24 and reduces the size of the region likely to contain the disease gene by approximately 300 kb. The allele frequencies of each marker were similar in the ADPKD and normal populations.