论文部分内容阅读
目的:研究中国汉族人群家族性肥厚型心肌病(FHCM)患者的致病基因突变位点,分析其基因型与表型关系。方法:对6个家系先证者行肌球连接蛋白-C基因(MYBPC3)筛查,聚合酶链反应扩增其MYBPC3基因13、15-16、26、及27号功能区外显子片断,双脱氧末端终止法测序。对阳性结果者家系中其他成员及健康对照组同一位置筛查,分析患者基因型及临床表型特点。结果:在2个家系中,同时发现MYBPC3基因Val896Met杂合突变,而健康对照组同一位置未见异常,2家系中共6人携带此突变,其中发病5例;该突变可能为我国汉人FHCM家系中首次发现。结论:MYBPC3是我国汉族FHCM患者的常见致病基因;MYBPC3基因Val896Met突变所致肥厚型心肌病外显率高、临床症状出现较晚、进展缓慢、出现明显年龄依赖性特点,为一种良性突变。
Objective: To study the gene mutation sites of familial hypertrophic cardiomyopathy (FHCM) patients in Chinese Han population and to analyze their genotypes and phenotypes. Methods: MYBPC3 was screened in 6 probands of Chinese pedigree. The MYBPC3 gene of exon 13, 15-16, 26 and exon 27 of exon 27 were amplified by polymerase chain reaction (PCR) Dideoxy terminator sequencing. The positive results in other families of family members and healthy controls at the same location screening, analysis of patient genotype and clinical phenotypic characteristics. Results: In the two families, the mutation of Val896Met of MYBPC3 gene was found at the same time, but there was no abnormality at the same position in the healthy control group. Six of the two families carried this mutation, of which 5 cases were found. This mutation may be in Chinese Han FHCM pedigree First discovered. CONCLUSIONS: MYBPC3 is a common causative gene in FHCM patients of Han nationality in China. The hypertrophic cardiomyopathy induced by Val896Met mutation of MYBPC3 gene is characterized by high penetrance, late onset of clinical symptoms, slow progression, obvious age-dependent characteristics and a benign mutation .