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Title: Refined localisation of the second gene for autosomal dominant polycystic kidney disease

Abstract

The PKD1-gene responsible for autosomal dominant polycystic kidney disease in 85% of the families maps to chromosome 16q13. Last year the PKD2-gene was localized on chromosome 4q21-23 between the markers D4S231 and D4S231 and D4S423, an interval of about 8cM. In a collaborative effort to narrow down the PKD2-region, families with recombinants have been analyzed with several markers within the interval. First, an integrated map had to be constructed which contains previously published markers of different sources. To construct this map, cosmids and/or YACs isolated with the markers have been mapped by two-color FISH and were screened with the other markers. Affected recombinants localize the disease between D4S1534 and D4S1544.

Authors:
; ;  [1]
  1. Wassenaaseweg, Leiden (Netherlands); and others
Publication Date:
OSTI Identifier:
134098
Report Number(s):
CONF-941009-
Journal ID: AJHGAG; ISSN 0002-9297; TRN: 95:005313-0834
Resource Type:
Journal Article
Journal Name:
American Journal of Human Genetics
Additional Journal Information:
Journal Volume: 55; Journal Issue: Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; PATIENTS; HEREDITARY DISEASES; UROGENITAL SYSTEM DISEASES; HUMAN CHROMOSOME 16; GENETIC MAPPING; GENES; DOMINANT MUTATIONS; BIOLOGICAL MARKERS; GENETICS; KIDNEYS; FLUORESCENCE; DNA HYBRIDIZATION; YEASTS

Citation Formats

Peters, D J.M., Saris, J J, and Spruit, L. Refined localisation of the second gene for autosomal dominant polycystic kidney disease. United States: N. p., 1994. Web.
Peters, D J.M., Saris, J J, & Spruit, L. Refined localisation of the second gene for autosomal dominant polycystic kidney disease. United States.
Peters, D J.M., Saris, J J, and Spruit, L. 1994. "Refined localisation of the second gene for autosomal dominant polycystic kidney disease". United States.
@article{osti_134098,
title = {Refined localisation of the second gene for autosomal dominant polycystic kidney disease},
author = {Peters, D J.M. and Saris, J J and Spruit, L},
abstractNote = {The PKD1-gene responsible for autosomal dominant polycystic kidney disease in 85% of the families maps to chromosome 16q13. Last year the PKD2-gene was localized on chromosome 4q21-23 between the markers D4S231 and D4S231 and D4S423, an interval of about 8cM. In a collaborative effort to narrow down the PKD2-region, families with recombinants have been analyzed with several markers within the interval. First, an integrated map had to be constructed which contains previously published markers of different sources. To construct this map, cosmids and/or YACs isolated with the markers have been mapped by two-color FISH and were screened with the other markers. Affected recombinants localize the disease between D4S1534 and D4S1544.},
doi = {},
url = {https://www.osti.gov/biblio/134098}, journal = {American Journal of Human Genetics},
number = Suppl.3,
volume = 55,
place = {United States},
year = {Thu Sep 01 00:00:00 EDT 1994},
month = {Thu Sep 01 00:00:00 EDT 1994}
}