FWPW PRKAG2基因筛查

Mutation Screening in PRKAG2 in Familial Wolff-Parkinson-White Syndrome

目的:预激综合征(WPW)是一种常染色体显性遗传性疾病,本文筛查了5个家族性预激综合征(FWPW)的先证者,以求发现中国WPW患者PRKAG2的突变.方法:提取周围血白细胞基因组DNA,聚合酶链反应(PCR)扩增PRK-AG2目的基因片段.应用直接测序分析筛查基因突变.结果:5个FWPW先证者PRKAG2 2-12外显子测序结果与NCBI(美国国家生物技术信息中心)GDB BLAST软件进行比对,未发现突变.结论:FWPW存在着遗传异质性,除PRK-AG2外可能还存在着其它相关基因.

Objective：Wolff- Parkinson - White syndrome is considered to be autosomal dominant hereditary disease. The objective of this study is to identify the mutations in PRKAG2 in Chinese familial Wolff- Parkinson - White syndrome. Methods： Mutation analysis was performed using purified PCR products to direct sequence analysis on an ABI - 377 automated DNA sequencer. The whole sequence of 5 familial Wolff - Parkinson - White syndrome probands＇ PRKAG2 was screened, Results No mutations were identified in the 5 Wolff- Parkinson - White syndrome families. Conclusion： There were hereditary heterogeneous in Wolff - Parkinson - White syndrome , may be there were other genes besides PRKAG2.