Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2)

被引:83
作者
Hayashi, T
Mochizuki, T
Reynolds, DM
Wu, GQ
Cai, YQ
Somlo, S
机构
[1] YESHIVA UNIV ALBERT EINSTEIN COLL MED,DEPT MED,BRONX,NY 10461
[2] YESHIVA UNIV ALBERT EINSTEIN COLL MED,DEPT MOL GENET,BRONX,NY 10461
关键词
D O I
10.1006/geno.1997.4851
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
PKD2, the gene defective in the second form of autosomal dominant polycystic kidney disease (ADPKD), has been identified by positional cloning and found to encode an integral membrane protein with similarity to the gene for the more common form of ADPKD and to calcium channels. We have determined the exon-intron structure of the PKD2 gene. PKD2 is encoded in at least 15 exons with the translation start site in exon 1. All the splice acceptor and donor sites conform to the AG/GT rule. We have designed a series of intronic oligonucleotide primers for amplifying the entire coding sequence from genomic DNA in segments well suited to mutation analysis using conventional screening strategies such as SSCA or heteroduplex analysis. (C) 1997 Academic Press.
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收藏
页码:131 / 136
页数:6
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