Muecher, Gabi and Becker, Jutta and Knapp, Michael and Buettner, Reinhard and Moser, Markus and Rudnik-Schoeneborn, Sabine and Somlo, Stefan and Germino, Greg and Onuchic, Luiz and Avner, Ellis and Guay-Woodford, Lisa and Zerres, Klaus (1998) 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, 48 (1). pp. 40-45. ISSN 0888-7543, 1089-8646
Full text not available from this repository. (Request a copy)Abstract
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 smd D6S1714, Linkage disequilibrium analysis in 13 Finnish ARPKD families identified two different highly conserved haplo-types 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 casing 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. (C) 1998 Academic Press.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | CASEIN KINASE-II; METALLOENDOPEPTIDASE MEPRIN; CHROMOSOME 6P21.1-P12; ALPHA-SUBUNIT; MEP1A; POLYMORPHISM; MAP; DNA; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Pathologie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 24 Oct 2023 05:26 |
| Last Modified: | 24 Oct 2023 05:26 |
| URI: | https://pred.uni-regensburg.de/id/eprint/50082 |
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