Exclusion of autosomal dominant polycystic kidney disease type II (ADPKD2) from 160 cM of chromosome 1

S. Kumar; W. J. Kimberling; P. A. Gabow; Y. Y. Shugart; S. Pieke-Dahl

doi:10.1136/jmg.27.11.697

Exclusion of autosomal dominant polycystic kidney disease type II (ADPKD2) from 160 cM of chromosome 1

S. Kumar, W. J. Kimberling, P. A. Gabow, Y. Y. Shugart, S. Pieke-Dahl

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

8 Scopus citations

Abstract

Autosomal dominant polycystic kidney disease is a heritable disorder and recent studies have shown genetic heterogeneity, with some, but not all, families showing linkage with markers on chromosome 16p. Members of a large ADPKD family, unlinked to chromosome 16, have been typed for 12 marker loci located on both arms of chromosome 1. Multipoint analysis excluded ADPKD2 from the region between D1S81 (pTHH33) and D1S67 (pHHH106) on the long arm and between Rh and PGM1 on the short arm. This excludes the disease locus from about 61% of chromosome 1.

Original language	English (US)
Pages (from-to)	697-700
Number of pages	4
Journal	Journal of medical genetics
Volume	27
Issue number	11
DOIs	https://doi.org/10.1136/jmg.27.11.697
State	Published - 1990

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Access to Document

10.1136/jmg.27.11.697

Cite this

@article{cd7aa58a59bc43cea44d0f6ae34faba9,

title = "Exclusion of autosomal dominant polycystic kidney disease type II (ADPKD2) from 160 cM of chromosome 1",

abstract = "Autosomal dominant polycystic kidney disease is a heritable disorder and recent studies have shown genetic heterogeneity, with some, but not all, families showing linkage with markers on chromosome 16p. Members of a large ADPKD family, unlinked to chromosome 16, have been typed for 12 marker loci located on both arms of chromosome 1. Multipoint analysis excluded ADPKD2 from the region between D1S81 (pTHH33) and D1S67 (pHHH106) on the long arm and between Rh and PGM1 on the short arm. This excludes the disease locus from about 61% of chromosome 1.",

author = "S. Kumar and Kimberling, {W. J.} and Gabow, {P. A.} and Shugart, {Y. Y.} and S. Pieke-Dahl",

year = "1990",

doi = "10.1136/jmg.27.11.697",

language = "English (US)",

volume = "27",

pages = "697--700",

journal = "Journal of medical genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

number = "11",

}

TY - JOUR

T1 - Exclusion of autosomal dominant polycystic kidney disease type II (ADPKD2) from 160 cM of chromosome 1

AU - Kumar, S.

AU - Kimberling, W. J.

AU - Gabow, P. A.

AU - Shugart, Y. Y.

AU - Pieke-Dahl, S.

PY - 1990

Y1 - 1990

N2 - Autosomal dominant polycystic kidney disease is a heritable disorder and recent studies have shown genetic heterogeneity, with some, but not all, families showing linkage with markers on chromosome 16p. Members of a large ADPKD family, unlinked to chromosome 16, have been typed for 12 marker loci located on both arms of chromosome 1. Multipoint analysis excluded ADPKD2 from the region between D1S81 (pTHH33) and D1S67 (pHHH106) on the long arm and between Rh and PGM1 on the short arm. This excludes the disease locus from about 61% of chromosome 1.

AB - Autosomal dominant polycystic kidney disease is a heritable disorder and recent studies have shown genetic heterogeneity, with some, but not all, families showing linkage with markers on chromosome 16p. Members of a large ADPKD family, unlinked to chromosome 16, have been typed for 12 marker loci located on both arms of chromosome 1. Multipoint analysis excluded ADPKD2 from the region between D1S81 (pTHH33) and D1S67 (pHHH106) on the long arm and between Rh and PGM1 on the short arm. This excludes the disease locus from about 61% of chromosome 1.

UR - http://www.scopus.com/inward/record.url?scp=0025028859&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0025028859&partnerID=8YFLogxK

U2 - 10.1136/jmg.27.11.697

DO - 10.1136/jmg.27.11.697

M3 - Article

C2 - 1980516

AN - SCOPUS:0025028859

SN - 0022-2593

VL - 27

SP - 697

EP - 700

JO - Journal of medical genetics

JF - Journal of medical genetics

IS - 11

ER -

Exclusion of autosomal dominant polycystic kidney disease type II (ADPKD2) from 160 cM of chromosome 1

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this