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

A. Snarey; S. Thomas; M. C. Schneider; S. E. Pound; N. Barton; A. F. Wright; S. Somlo; G. G. Germino; P. C. Harris; S. T. Reeders; A. M. Frischauf

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

A. Snarey, S. Thomas, M. C. Schneider, S. E. Pound, N. Barton, A. F. Wright, S. Somlo, G. G. Germino, P. C. Harris, S. T. Reeders, A. M. Frischauf

Nephrology and Hypertension

Research output: Contribution to journal › Article › peer-review

53 Scopus citations

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.

Original language	English (US)
Pages (from-to)	365-371
Number of pages	7
Journal	American journal of human genetics
Volume	55
Issue number	2
State	Published - 1994

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Cite this

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title = "Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1)",

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.",

author = "A. Snarey and S. Thomas and Schneider, {M. C.} and Pound, {S. E.} and N. Barton and Wright, {A. F.} and S. Somlo and Germino, {G. G.} and Harris, {P. C.} and Reeders, {S. T.} and Frischauf, {A. M.}",

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language = "English (US)",

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pages = "365--371",

journal = "American journal of human genetics",

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T1 - Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1)

AU - Snarey, A.

AU - Thomas, S.

AU - Schneider, M. C.

AU - Pound, S. E.

AU - Barton, N.

AU - Wright, A. F.

AU - Somlo, S.

AU - Germino, G. G.

AU - Harris, P. C.

AU - Reeders, S. T.

AU - Frischauf, A. M.

PY - 1994

Y1 - 1994

N2 - 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.

AB - 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.

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

Abstract

ASJC Scopus subject areas

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