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| FWPW PRKAG2基因筛查 | |
| 引用本文： | 刘文玲,胡大一,刘国树,董玮,张海清,李蕾,吴炀,李运田,郑华,刘德强,杨大严,戚豫.FWPW PRKAG2基因筛查[J].中国医药导刊,2005,7(5):339-341. |
| 作者姓名： | 刘文玲 胡大一 刘国树 董玮 张海清 李蕾 吴炀 李运田 郑华 刘德强 杨大严 戚豫 |
| 作者单位： | 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,华大基因研究中心/中国科学院基因组信息学中心,北京,100020 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 |
| 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. |
| 关 键 词： | 预激综合征 遗传 基因突变 |
Mutation Screening in PRKAG2 in Familial Wolff- Parkinson - White Syndrome |
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| Liu Wen - ling , Hu Da - yi , Liu Guo. shu ,et al..Mutation Screening in PRKAG2 in Familial Wolff- Parkinson - White Syndrome[J].Chinese Journal of Medicinal Guide,2005,7(5):339-341. | |
| Authors: | Liu Wen - ling Hu Da - yi Liu Guo shu |
| Institution: | Liu Wen - ling , Hu Da - yi , Liu Guo. shu , et al. |
| Abstract: | 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. |
| Keywords: | Wolff-Parkinson-White syndrome genetics mutation |
| 本文献已被 CNKI 维普 万方数据 等数据库收录！ | |