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 journalArticle

3 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)129-133
Number of pages5
JournalHuman genetics
Volume87
Issue number2
DOIs
StatePublished - Jun 1 1991

Fingerprint

Autosomal Dominant Polycystic Kidney
Polycystic Kidney Diseases
Genetic Linkage
Chromosomes, Human, Pair 16
Genes
Inborn Genetic Diseases
Genetic Loci
Human Genome
Genetic Markers
Mutation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Genetic linkage studies of autosomal dominant polycystic kidney disease : search for the second gene in a large Sicilian family. / Kumar, Shrawan; Kimberling, William J.; Gabow, Patricia A.; Kenyon, Judy B.

In: Human genetics, Vol. 87, No. 2, 01.06.1991, p. 129-133.

Research output: Contribution to journalArticle

Kumar, Shrawan ; Kimberling, William J. ; Gabow, Patricia A. ; Kenyon, Judy B. / Genetic linkage studies of autosomal dominant polycystic kidney disease : search for the second gene in a large Sicilian family. In: Human genetics. 1991 ; Vol. 87, No. 2. pp. 129-133.
@article{f170c80a635f4312ae0fe8b81642fd93,
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",
month = "6",
day = "1",
doi = "10.1007/BF00204167",
language = "English (US)",
volume = "87",
pages = "129--133",
journal = "Human Genetics",
issn = "0340-6717",
publisher = "Springer Verlag",
number = "2",

}

TY - JOUR

T1 - Genetic linkage studies of autosomal dominant polycystic kidney disease

T2 - search for the second gene in a large Sicilian family

AU - Kumar, Shrawan

AU - Kimberling, William J.

AU - Gabow, Patricia A.

AU - Kenyon, Judy B.

PY - 1991/6/1

Y1 - 1991/6/1

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.

UR - http://www.scopus.com/inward/record.url?scp=0025884904&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0025884904&partnerID=8YFLogxK

U2 - 10.1007/BF00204167

DO - 10.1007/BF00204167

M3 - Article

C2 - 1676697

AN - SCOPUS:0025884904

VL - 87

SP - 129

EP - 133

JO - Human Genetics

JF - Human Genetics

SN - 0340-6717

IS - 2

ER -