目的 明确心脏型肌球蛋白结合蛋白C（cardiac myosin binding protein c, cMYBPC）18443 A/G 多态对肥厚型心肌病（hypertrophic cardiomyopathy，HCM）临床表型的影响。 方法 选择226例无血缘关系的HCM患者，超声心动图显示原因不明的心脏左室壁厚度≥13 mm，或心尖部肥厚或右室肥厚，并排除长期高血压、缺血性心肌病及其他可引起继发性心室肥厚的疾病，并选择226例性别、年龄匹配的健康人作为对照组。抽取外周静脉血，分离白细胞，从白细胞中提取基因组DNA，设计特异引物，PCR扩增包含MYBPC3第30号外显子A/G18443多态的目的片断，根据PCR产物限制性酶切后的长度及ABI377 DNA测序仪测序来判定上述多态。 结果 cMYBPC基因18443A/G多态位点不同基因型在HCM患者和对照组的分布频率无明显差别。在cMYBPC基因18443位置存在A/G多态，携带GG基因型的HCM患者肥厚心肌的厚度（25.2±5.9）mm大于携带AG基因型和AA基因型（18.9±4.98）mm的HCM患者。 结论 cMYBPC不仅是HCM的致病基因，而且也可能是HCM的修饰基因。
Abstract
Objective To determine the effect of cMYBPC on the clinical phenotype of hypertrophic cardiomyopathy. Methods 226 patients with hypertrophic cardiomyopathy and 226 age- and sex-matched controls were recruited according to the diagnostic criteria of WHO. Genotyping was completed using PCR, restrictive enzyme digestion, and sequencing. Results Among three polymorphisms of MYBPC3 studied, only the GG genotype at 18443 in exon 30 was associated with the thicker left ventricular wall (25.2±5.9) mm in patient group, unlike the AA and AG genotypes (18.9±4.98) mm. After multiple regression analysis for adjustment of age and sex, the association remained. No difference was found in the genotype distribution between control and patients. Conclusions GG genotype of MYBPC3 might be a genetic risk factor for the expression of cardiac hypertrophic phenotype in patients with hypertrophic cardiomyopathy.
关键词
hypertrophic cardiomyopathy /
cMYBPC /
polymorphism
Key words
hypertrophic cardiomyopathy /
cMYBPC /
polymorphism
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