Genetic linkage studies of autosomal dominant polycystic kidney disease: search for the second gene in a large Sicilian family

Shrawan Kumar; William J. Kimberling; Patricia A. Gabow; Judy B. Kenyon

doi:10.1007/BF00204167

Genetic linkage studies of autosomal dominant polycystic kidney disease: search for the second gene in a large Sicilian family

Shrawan Kumar, William J. Kimberling, Patricia A. Gabow, Judy B. Kenyon

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

3 Scopus citations

Abstract

Polycystic kidney disease (PKD) is a common autosomal dominant genetic disorder caused by mutation in at least two different gene loci. The PKD1 gene has been localized on the short arm of chromosome 16. The location of a second genetic locus in the human genome is not yet known. A large PKD kindred, unlinked to chromosome 16, with over 250 members was studied using both DNA and classical markers. In total, 29 informative marker loci on 11 autosomes have been analyzed for linkage with PKD. The data significantly exclude the linkage with disease locus from 17 marker loci and show no evidence of close linkage with the other loci.

Original language	English (US)
Pages (from-to)	129-133
Number of pages	5
Journal	Human genetics
Volume	87
Issue number	2
DOIs	https://doi.org/10.1007/BF00204167
State	Published - Jun 1991

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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title = "Genetic linkage studies of autosomal dominant polycystic kidney disease: search for the second gene in a large Sicilian family",

abstract = "Polycystic kidney disease (PKD) is a common autosomal dominant genetic disorder caused by mutation in at least two different gene loci. The PKD1 gene has been localized on the short arm of chromosome 16. The location of a second genetic locus in the human genome is not yet known. A large PKD kindred, unlinked to chromosome 16, with over 250 members was studied using both DNA and classical markers. In total, 29 informative marker loci on 11 autosomes have been analyzed for linkage with PKD. The data significantly exclude the linkage with disease locus from 17 marker loci and show no evidence of close linkage with the other loci.",

author = "Shrawan Kumar and Kimberling, {William J.} and Gabow, {Patricia A.} and Kenyon, {Judy B.}",

year = "1991",

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AU - Kimberling, William J.

AU - Gabow, Patricia A.

AU - Kenyon, Judy B.

PY - 1991/6

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N2 - Polycystic kidney disease (PKD) is a common autosomal dominant genetic disorder caused by mutation in at least two different gene loci. The PKD1 gene has been localized on the short arm of chromosome 16. The location of a second genetic locus in the human genome is not yet known. A large PKD kindred, unlinked to chromosome 16, with over 250 members was studied using both DNA and classical markers. In total, 29 informative marker loci on 11 autosomes have been analyzed for linkage with PKD. The data significantly exclude the linkage with disease locus from 17 marker loci and show no evidence of close linkage with the other loci.

AB - Polycystic kidney disease (PKD) is a common autosomal dominant genetic disorder caused by mutation in at least two different gene loci. The PKD1 gene has been localized on the short arm of chromosome 16. The location of a second genetic locus in the human genome is not yet known. A large PKD kindred, unlinked to chromosome 16, with over 250 members was studied using both DNA and classical markers. In total, 29 informative marker loci on 11 autosomes have been analyzed for linkage with PKD. The data significantly exclude the linkage with disease locus from 17 marker loci and show no evidence of close linkage with the other loci.

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Genetic linkage studies of autosomal dominant polycystic kidney disease: search for the second gene in a large Sicilian family

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