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目的明确心脏肌钙蛋白I(cTnI)R145W突变的表型特点。方法在300例肥厚型心肌病(HCM)患者及120例正常对照中对心脏肌钙蛋白I基因(TNNI3)外显子7进行基因扫描,聚合酶链反应(PCR)扩增目的片段,双脱氧末段终止法测序。对R145W突变患者进行家系调查,收集临床资料,分析其临床表型。结果在4个先证者家系9个HCM成员中发现cTnI-R145W突变,2/3的患者表现为心尖部肥厚,3/4先证者有猝死家族史,其中一例家族成员在随访期内心源性猝死。结论 cTnI-R145W突变可导致心尖部肥厚为主的HCM,其表型恶性程度较高。结合同一突变位点在西方人群中可以导致典型的限制型心肌病表型,提示R145W可以导致不同类型的心肌病。
Objective To determine the phenotypic characteristics of cardiac troponin I (cTnI) R145W mutation. Methods The cardiac troponin I gene (TNNI3) exon 7 was genotyped in 300 patients with hypertrophic cardiomyopathy (HCM) and 120 normal controls. The gene fragment was amplified by polymerase chain reaction (PCR) End of paragraph method of sequencing. The R145W mutation in patients with pedigree investigation, clinical data collection, analysis of its clinical phenotype. Results The cTnI-R145W mutation was found in 9 HCM members of 4 probands, 2/3 of the patients showed apical hypertrophy, 3/4 probands had a sudden-onset family history, and one of the family members had a cardiac source Sudden death. Conclusions cTnI-R145W mutation can lead to apex hypertrophy HCM, the higher the degree of malignancy phenotype. The combination of the same mutation site in Western populations can lead to the classic phenotype of restricted cardiomyopathy, suggesting that R145W can lead to different types of cardiomyopathy.