CAJ | 학술논문

目的探讨中国人群肥厚型心肌病(HCM)患者中心脏肌钙蛋白T(cardiac troponin T,TNNT2)基因变异的情况,并分析基因型与临床表型的关系.方法对100例确诊为HCM的患者及部分家属进行临床评估分析并随访,聚合酶链反应扩增所有编码序列及内含子-外显子拼接部位,直接测序法分析TNNT2基因多态/突变情况.结果在100例先证者中发现1例R92W错义突变,1例R286H错义突变,突变率2％.发现3号内含子与4号外显子拼接部位5bpCTTCT序列的缺失/插入基因多态性改变,22例缺失缺失型(DD型)患者的临床特点与其余78例无显著性差异.结论在100例HCM患者中发现TNNT2基因2个错义突变-R92W和R286H,TNNT2突变在中国HCM患者中发生率较低.
목적 탐토중국인군비후형심기병(HCM)환자중심장기개단백T(cardiac troponin T,TNNT2)기인변이적정황,병분석기인형여림상표형적관계.방법 대100례학진위HCM적환자급부분가속진행림상평고분석병수방,취합매련반응확증소유편마서렬급내함자-외현자병접부위,직접측서법분석TNNT2기인다태/돌변정황.결과 재100례선증자중발현1례R92W착의돌변,1례R286H착의돌변,돌변솔2％.발현3호내함자여4호외현자병접부위5bpCTTCT서렬적결실/삽입기인다태성개변,22례결실결실형(DD형)환자적림상특점여기여78례무현저성차이.결론 재100례HCM환자중발현TNNT2기인2개착의돌변-R92W화R286H,TNNT2돌변재중국HCM환자중발생솔교저.
Objective To screen the cardiac troponin T (TNNT2) mutations in Chinese patients with hypertrophic cardiomyopathy (HCM) and to analyze the potential link between the genotype and the phenotype.Methods Clinical features of 100 probands with HCM and some family members were evaluated,200 unrelated normal subjects served as control.The exons and flanking introns of TNNT2 were amplified with PCR and direct sequencing was used to screen TNNT2 mutations/ polymorphisms.Results Two novel missense mutations were detected in 2 HCM patients:R92W and R286H.These 2 mutations were not found in 200 non-HCM controls.A five-basepair insertion/deletion polymorphism in intron 3 of TNNT2 was identified in this HCM cohort but was not related to the phenotype.Conclusions Two missense mutations,R92W and R286H,were found in 2/100 patients with HCM,TNNT 2 mutation is relatively low in Chinese patients with HCM.