论文部分内容阅读
目的研究β肌球蛋白重链(MYH7)及肌钙蛋白T(TNNT2)突变是否为散发性肥厚型心肌病(SHCM)患者的致病基因。方法对50例无血缘关系家族中仅1例患病且无一级亲属猝死史的SHCM患者及80例有一级亲属的SHCM患者进行MYH7及TNNT2扫描。提取所有DNA片段用PCR扩增后以双脱氧末端终止法测序。结果(1)50例SHCM患者中均未发现TNNT2基因突变。有1例MYH7突变,位于20号外显子上的T13659C突变(Ile736Thr);(2)80例家族成员中未发现MYH7及TNNT2基因突变。结论SHCM患者MYH7及TNNT2基因突变发生率低,可能不是SHCM的主要致病基因。
Objective To investigate whether the mutations of MYH7 and TNNT2 are pathogenic genes in sporadic hypertrophic cardiomyopathy (SHCM). Methods One case of SHCM with no history of first-degree relatives sudden death in 50 unrelated familial relatives and 80 SHPM patients with first-degree relatives were scanned with MYH7 and TNNT2. All DNA fragments were extracted by PCR and sequenced by dideoxy terminator method. Results (1) No TNNT2 gene mutation was found in 50 SHCM patients. There was 1 case of MYH7 mutation in T13659C mutation (Ile736Thr) located on exon 20; (2) MYH7 and TNNT2 gene mutations were not found in 80 cases of family members. Conclusion The incidence of MYH7 and TNNT2 mutations in patients with SHCM is low, which may not be the major pathogenicity of SHCM.