EVIDENCE FOR A 3RD GENETIC-LOCUS FOR AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE

被引:240
作者
DAOUST, MC
REYNOLDS, DM
BICHET, DG
SOMLO, S
机构
[1] YESHIVA UNIV ALBERT EINSTEIN COLL MED,DIV NEPHROL,BRONX,NY 10461
[2] UNIV MONTREAL,DEPT BIOCHEM,MONTREAL,PQ H3C 3J7,CANADA
[3] UNIV MONTREAL,HOP SACRE COEUR MONTREAL,RES CTR,MONTREAL,PQ,CANADA
关键词
D O I
10.1016/0888-7543(95)80020-M
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disease with loci on chromosomes 16p and 4q. It has a moderately high spontaneous mutation rate, although the relative frequency of such mutations at each gene locus is unknown. In studying genetic heterogeneity in the French-Canadian population, we identified a family in which a classical clinical presentation of ADPKD resulted from a mutation at a locus genetically distinct from either of the previously described loci for this disease. This suggests the existence of a third genetic locus for ADPKD. (C) 1995 Academic Press, Inc.
引用
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页码:733 / 736
页数:4
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