Hayashi T, Mochizuki T, Reynolds D M, Wu G, Cai Y, Somlo S
Department of Medicine, Albert Einstein College of Medicine, Bronx, New York 10461, USA.
Genomics. 1997 Aug 15;44(1):131-6. doi: 10.1006/geno.1997.4851.
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.
多囊肾病2（PKD2）基因，是常染色体显性多囊肾病（ADPKD）第二种类型中的缺陷基因，已通过定位克隆被识别出来，并且发现它编码一种整合膜蛋白，该蛋白与更常见类型的ADPKD基因以及钙通道基因具有相似性。我们已经确定了PKD2基因的外显子-内含子结构。PKD2至少由15个外显子编码，其翻译起始位点位于外显子1。所有的剪接受体和供体位点均符合AG/GT规则。我们设计了一系列内含子寡核苷酸引物，用于从基因组DNA中分段扩增整个编码序列，这些片段非常适合使用诸如单链构象多态性分析（SSCA）或异源双链分析等传统筛选策略进行突变分析。
