中国汉族人群PKD2基因多态性检测

目的：检测中国汉族人群PKD2基因多态性。方法：选取50名健康志愿者，提取外周血白细囊DNA，应用聚合酶链反应-单链构象多态性分析技术(PCR-SSCP)进行多态性检测，取异常条带标本进行核苷酸序列测定，判别PKD2外显子基因多态性位点及类型。结果：从50名健康人中成功检测出2种多态性。第1种为PKD2外显子7的1716位碱基由鸟嘌呤置换为腺嘌呤，编码氨基酸仍为赣氨酸。第2种为PKD2外显子1的第420位碱基由鸟嘌呤置换为腺嘌呤，编码氨基酸仍为甘氨酸。结论：建立了PCR-SSCP直接检测我国汉族人PKD2基因多态性的方法，并成功检测出2种PKD2基因多态性，为开展常染色体显性遗传性多囊肾病基因诊断奠定了基础。

Detection of polymorphisms in polycystic kidney disease gene 2 (PKD2) in han nationality

Objective To detect the polymorphisms in polycystic kidney disease gene 2 in Han nationality. Methods The genomic DNA from the white blood cells of healthy volunteers were isolated. The DNA was amplified by PCR with the primers designed according to the PKD2 sequence. The PCR products were analyzed by SSCP. DNA samples from abnormal bands were sequenced. Results Two polymorphisms were detected from 50 healthy volunteers. First, the NO.1716 nucleotide in exon7 was changed from G to A(G1716A), the translation product was unchanged (Lys572Lys). Second, the NO. 420 nucleotide G in exon1 was changed by A(G420A), but the translation was not changed (Gly140Gly). Conclusion We have developed the methods of detecting directly the polymorphisms of PKD2 in Chinese and succeeded in identifying 2 polymorphisms. These would be very helpful to diagnose the gene mutations of ADPKD patients.