CAJ | 학술논문

目的研究国人肥厚型心肌病(HCM)患者的致病基因一肌球蛋白结合蛋白C基因(myosin binding protein C gene,MYBPC3)的突变位点,分析基因突变类型与临床表型的相互关系.方法对66例HCM患者的MYBPC3基因进行扫描,聚合酶链反应扩增其外显子及剪接部位的基因组DNA片段,直接测序分析.分析各突变患者相应的临床表型特点.结果经测序分析,发现Lys30lfs移码突变、Asp463stop无义突变、Gly523Arg错义突变和Tyr847His错义突变.MYBPC3导致的HCM为3例,占病例总数的4.5%.其临床表型各异,患者H30(Lys301fs)47岁发病,活动后胸闷、气短,超声显示室间隔肥厚达18.7 mm,左心室后壁14.7 mm.患者H48(Asp463stop)为25岁男性,24岁发病,室问隔肥厚达15.4 mm.患者H53(Gly523Arg和Tyr847His)发病年龄36岁,活动后胸闷、憋气,伴心前区疼痛,室间隔肥厚达27 min.结论 MYBPC3突变为HCM主要致病原因之一.MYBPC3突变基因携带者临床表型差异大.国人MYBPC3突变患者多在青壮年期发病,不同于国外报道的多发病较晚.
목적 연구국인비후형심기병(HCM)환자적치병기인일기구단백결합단백C기인(myosin binding protein C gene,MYBPC3)적돌변위점,분석기인돌변류형여림상표형적상호관계.방법대66례HCM환자적MYBPC3기인진행소묘,취합매련반응확증기외현자급전접부위적기인조DNA편단,직접측서분석.분석각돌변환자상응적림상표형특점.결과경측서분석,발현Lys30lfs이마돌변、Asp463stop무의돌변、Gly523Arg착의돌변화Tyr847His착의돌변.MYBPC3도치적HCM위3례,점병례총수적4.5%.기림상표형각이,환자H30(Lys301fs)47세발병,활동후흉민、기단,초성현시실간격비후체18.7 mm,좌심실후벽14.7 mm.환자H48(Asp463stop)위25세남성,24세발병,실문격비후체15.4 mm.환자H53(Gly523Arg화Tyr847His)발병년령36세,활동후흉민、별기,반심전구동통,실간격비후체27 min.결론 MYBPC3돌변위HCM주요치병원인지일.MYBPC3돌변기인휴대자림상표형차이대.국인MYBPC3돌변환자다재청장년기발병,불동우국외보도적다발병교만.
Objective To screen the MYBPC3 gene mutations in Han Chinese patients with hypertrophic cardiomyopathy ( HCM ). Methods Sixty-six patients with HCM were enrolled for the study. The exons in the functional regions of MYBPC3 were amplified with PCR and the products were sequenced. Results Four novel mutations and four common polymorphisms were identified in this patient cohort. A Lys301fs mutation in exon10 was evidenced in a H30, and when he was 47 years old, he had the chest tightness, shortness of breath with septal hypertrophy of 18. 7mm; a Asp463stop mutation in exonl7 was detected in a H48, he was 24 years old 24-year-old when a medical examination showed ventricular septal hypertrophy of 15.4 mm; both Gly523Arg mutation in exonl8 and Tyr847His mutation in exon26 were found in a H53 with onset age 36 years old, feeling chest tightness after excise and his ventricular septal hypertrophy was 27 mm that time. MYBPC3 mutatons occurred in 4. 5% patients in this cohort. These mutations were not found in 100 non-HCM control patients. Conclusion MYBPC3 mutation is presented in a small portion of Han Chinese patients with HCM.