Genetic analysis of Cuban autosomal dominant polycystic kidney disease kindreds using RFLPs and microsatellite polymorphisms linked to PKD1 locus

We report on linkage analysis and haplotype characterization in 12 Cuban families with autosomal dominant polycystic kidney disease (ADPK) using PKD1-linked markers. They included both standard restriction fragment length polymorphisms (26.6., BLu24, and pGGG1) as well as microsatellite polymorphism...

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Bibliographic Details
Published in:Human genetics 1994-10, Vol.94 (4), p.432-436
Main Authors: VIRIBAY, M, FERREIRA, R, SAN MILLAN, J. L, PERAL, B, BELLO, D, WARD, C. J, DAVALOS, J, VALLE, C, HARRIS, P. C, MENDEZ DEL CASTILLO, D, MORENO, F
Format: Article
Language:English
Subjects:
Alleles
Biological and medical sciences
Cuba
DNA, Satellite - genetics
genetic analysis
Genetic Linkage
Humans
Kidneys
Lod Score
Malformations of the urinary system
man
Medical sciences
Nephrology. Urinary tract diseases
Pedigree
PKD1 gene
polycystic kidney
Polycystic Kidney, Autosomal Dominant - genetics
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
restriction fragment length polymorphism
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Summary:We report on linkage analysis and haplotype characterization in 12 Cuban families with autosomal dominant polycystic kidney disease (ADPK) using PKD1-linked markers. They included both standard restriction fragment length polymorphisms (26.6., BLu24, and pGGG1) 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 PKD1 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.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00201607