CAJ | 학술논문

目的研究中国人肥厚型心肌病的致病基因突变位点,寻找国人特有的热点突变并分析基因型与临床表型的相互关系.方法在100例肥厚型心肌病患者以及120名健康对照者中进行心脏型肌球蛋白结合蛋白C(MYBPC3)基因突变筛查,聚合酶链式反应(PCR)扩增基因功能区外显子片段并对PCR产物进行测序分析.结果在3例肥厚型心肌病患者中发现MYBPC3基因第6号外显子第706位碱基由T转换为C,结果导致第236位的丝氨酸(Ser,s)转变为甘氨酸(Gly,G),正常对照组相同位置未发现异常.该突变在西方人中未见报道,携带该突变的肥厚型心肌病患者呈现不同的临床表型.结论首次在中国人肥厚型心肌病患者中发现MYBPC3基因S236G突变,其在中国人肥厚型心肌病患者中占有一定的比例,是热点突变之一.
목적 연구중국인비후형심기병적치병기인돌변위점,심조국인특유적열점돌변병분석기인형여림상표형적상호관계.방법 재100례비후형심기병환자이급120명건강대조자중진행심장형기구단백결합단백C(MYBPC3)기인돌변사사,취합매련식반응(PCR)확증기인공능구외현자편단병대PCR산물진행측서분석.결과 재3례비후형심기병환자중발현MYBPC3기인제6호외현자제706위감기유T전환위C,결과도치제236위적사안산(Ser,s)전변위감안산(Gly,G),정상대조조상동위치미발현이상.해돌변재서방인중미견보도,휴대해돌변적비후형심기병환자정현불동적림상표형.결론 수차재중국인비후형심기병환자중발현MYBPC3기인S236G돌변,기재중국인비후형심기병환자중점유일정적비례,시열점돌변지일.
Objective To identify the disease-causing gene mutations and to reveal the relationship between the genotype and the phenotype in Chinese patients with hypertrophic cardiomyopathy ( HCM). Methods One hundred unrelated patients with HCM and 120 controls were enrolled in this study. The full encoding exons and flanking sequences of the cardiac myosin binding protein C gene ( MYBPC3 ) were amplified with PCR and the products were sequenced. Results A novel missense mutation c. 706T > C was identified in exon 6 of MYBPC3 gene in three HCM patients, which resulted a Serine (S) to Glycine (G) exchange at amino acid residue 236 (S236G). The clinical phenotypes of the three patients were different (2 obstructive HCM, 1 non-obstructive HCM ). The 120 controls were normal in the genetic test Conclusions The novel S236G mutation in MYBPC3 gene was a hot-spot mutation in Chinese patients with HCM.