Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2 beta, and GSTA1 at 6p21.1-p12. Genomics 1998 Feb 15;48(1):40-5
Date
03/21/1998Pubmed ID
9503014DOI
10.1006/geno.1997.5145Scopus ID
2-s2.0-0345215151 (requires institutional sign-in at Scopus site) 44 CitationsAbstract
A total of 33 polymorphic markers were analyzed to generate a high-resolution genetic linkage map of the locus PKHD1 (polycystic kidney and hepatic disease 1) for the autosomal recessive polycystic kidney disease (ARPKD), using a combination of recombination mapping and linkage analysis in 164 families. Recombinants narrowed the PKHD1 region from 3.8 cM to a 1-cM interval flanked by the markers D6S1024 and D6S1714. Linkage disequilibrium analysis in 13 Finnish ARPKD families identified two different highly conserved haplotypes with four distal flanking markers, suggesting the existence of at least two major mutations of Finnish origin. The genes MUT (methylmalonyl coenzyme A-mutase), RDS (retinal degeneration, slow), CSNK2 beta (casein kinase II, beta subunit), and GSTA1 (glutathione S-transferase alpha, type 1) were excluded as PKHD1 genes using both established and novel intragenic polymorphisms in families with key recombinants. These genetic data, combined with our YAC-based physical map of the 6p21-p12 region, will facilitate efforts to positionally clone the PKHD1 gene.
Author List
Mücher G, Becker J, Knapp M, Büttner R, Moser M, Rudnik-Schöneborn S, Somlo S, Germino G, Onuchic L, Avner E, Guay-Woodford L, Zerres KAuthor
Ellis D. Avner MD Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Casein Kinase IIChromosome Mapping
Chromosomes, Human, Pair 6
Female
Glutathione Transferase
Haplotypes
Humans
Linkage Disequilibrium
Male
Methylmalonyl-CoA Mutase
Pedigree
Polycystic Kidney, Autosomal Recessive
Retinal Degeneration
