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PMID: 8037213 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1).

American journal of human genetics ·Vol. 55 ·No. 2 ·1994-08-00 ·Pages 365-71

Snarey A, Thomas S, Schneider MC, Pound SE, Barton N, Wright AF, Somlo S, Germino GG, Harris PC, Reeders ST

Abstract

The gene for autosomal dominant polycystic kidney disease (PKD1) is located on chromosome 16p, between the flanking markers D16S84 and D16S125 (26.6prox). This region is 750 kb long and has been cloned. We have looked at the association of 10 polymorphic markers from the region, with the disease and with each other. This was done in a set of Scottish families that had previously shown association with D16S94, a marker proximal to the PKD1 region. We report significant association between two CA repeat markers and the disease but have not found evidence for a single founder haplotype in these families, indicating the presence of several mutations in this population. Our results favor a location of the PKD1 gene in the proximal part of the candidate region.

Related Genes

PKD1

MeSH Terms

Alleles Base Sequence Chi-Square Distribution Chromosome Mapping/methods Chromosomes, Human, Pair 16/ultrastructure DNA Primers DNA, Satellite/genetics DNA, Single-Stranded/genetics Female Gene Frequency Genetic Markers Haplotypes Humans Linkage Disequilibrium Male Molecular Sequence Data Polycystic Kidney, Autosomal Dominant/genetics Polymorphism, Genetic Scotland

Chemicals

DNA Primers DNA, Satellite DNA, Single-Stranded Genetic Markers

Authors & Affiliations

10 authors, click to expand affiliations / ORCID

Snarey A

Imperial Cancer Research Fund, London, England.

Thomas S

Schneider M C

Pound S E

Barton N

Wright A F

Somlo S

Germino G G

Harris P C

Reeders S T

References (23)

23 references, click to expand

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Article Info

Journal

American journal of human genetics

Abbr.

Am J Hum Genet

ISSN

0002-9297

Published

1994-08-00

Pages

365-71

Language

English

Region

United States

NLM ID

0370475

PMCID

PMC1918359

Subset

Grants

NIDDK NIH HHS · DK 40703 · United States

NIDDK NIH HHS · NIDDK 1 K11 DK02216-01 · United States

Wellcome Trust · United Kingdom

External Links

PubMed source PMC Full Text View journal details

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Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1).

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