PMID: 8963897Mar 1, 1996Paper

Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31

Genome Research
Pia HöglundJ Kere

Abstract

Congenital chloride diarrhea affects intestinal transportation of electrolytes, resulting in potentially fatal diarrhea. Linkage disequilibrium analyses have suggested the congenital chloride diarrhea gene (CLD) to lie within 0.37 cM from D7S496 in human chromosome 7q31. To clone the CLD gene, we have constructed and refined a physical map based on a 2.7-Mb YAC contig around D7S496 and identified two candidate genes. The physical positions of 4 known genes (DRA, PRKAR2B, LAMB1, DLD), 7 polymorphic repeat markers, and 13 CpG islands were established. DRA (down-regulated in adenoma) is expressed in the gut and encodes a protein with sequence homology to anion transporters, whereas PRKAR2B encodes a regulatory subunit for protein kinase A. Both genes map within 450 kb from D7S496, making them functionally and positionally relevant candidates for CLD.

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Citations

Apr 15, 2009·The Journal of Membrane Biology·Min-Hwang ChangMichael F Romero
May 12, 2007·Pflügers Archiv : European journal of physiology·Christian BarmeyerVazhaikkurichi M Rajendran
Apr 2, 1998·Journal of Pediatric Gastroenterology and Nutrition·M G Martín
Aug 19, 2007·Current Opinion in Nephrology and Hypertension·Aleksandra SindićMichael F Romero
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Mar 18, 2006·Biomedical Research·Koichi KawamataYuichi Suzuki
Jun 9, 1998·Human Molecular Genetics·P Van HauweG Van Camp
Jun 9, 1998·Human Molecular Genetics·B CoyleR C Trembath
Jan 1, 1997·Genome Research·G G BouffardE D Green
Nov 21, 2002·Human Mutation·Siru MäkeläPia Höglund
Jan 10, 2002·European Journal of Human Genetics : EJHG·R B BarkardottirH Nevanlinna
Sep 1, 2007·American Journal of Physiology. Gastrointestinal and Liver Physiology·Waddah A AlrefaiGary D Wu
Mar 20, 2001·American Journal of Physiology. Gastrointestinal and Liver Physiology·W A AlrefaiP K Dudeja
Oct 3, 2001·Physiological Reviews·D Markovich
Jan 14, 1999·The American Journal of Physiology·J KereP Höglund

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