FWPW PRKAG2基因筛查  

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

作　　者：刘文玲[1] 胡大一[1] 刘国树[2] 董玮[3] 张海清[3] 李蕾[1] 吴炀[4] 李运田[4] 郑华[4] 刘德强[5] 杨大严 戚豫[7] 

机构地区：[1]北京大学人民医院心内科,北京100044 [2]解放军总医院,北京100020 [3]中国科学院遗传所人类基因组中心 [4]首都医科大学同仁医院,北京100730 [5]河北省邯郸市第一医院,邯郸100020 [6]安徽省合肥市心血管病医院,合肥100020 [7]北京大学第一医院,北京100020

出　　处：《中国医药导刊》2005年第5期339-341,共3页Chinese Journal of Medicinal Guide

摘　　要：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.

关 键 词：预激综合征 遗传 基因突变 基因筛查 常染色体显性遗传性疾病 聚合酶链反应(PCR) 家族性预激综合征 BLAST软件 基因组DNA 周围血白细胞 基因突变 测序分析 

分 类 号：R346[医药卫生—基础医学]