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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: WPW is an autosomal dominant genetic disease. We screened five probands of FWPW in order to discover the mutation of PRKAG2 in Chinese patients with WPW. Methods: The genomic DNA of peripheral blood leukocytes was extracted and PRK-AG2 gene fragment was amplified by polymerase chain reaction (PCR) .A direct sequencing analysis was used to screen for the gene mutation.Results: PRKAG2 2-12 exon sequencing The results were compared with the GDB BLAST software of NCBI (National Center for Biotechnology Information), and no mutations were found.Conclusion: FWPW has genetic heterogeneity and other related genes besides PRK-AG2 may exist.