肥厚型心肌病心肌肌钙蛋白I相关激酶TNNl3K基因-中国心血管杂志.PDF

·59· ．基础研究． 肥厚型心肌病心肌肌钙蛋白I相关激酶 TNNl3 K基因突变的研究 王红梅高明明 肖白 刘敬忠 周燕杨新春王明生 【摘要】 目的对肥厚型心肌病患者进行TNNl3K基因进行测序分析，探讨此范围内有无基因突变位点。方 酶链反应扩增产物，设计内引物直接测序，观察有无基因突变，并对发生突变的患者进行临床特点分析。结果肥 厚型心肌病患者及正常对照者在TNNBK基因第18一19及23外显子未发现突变位点。结论目前在中国人群肥 厚型心肌病患者中未发现TNNl3K基因突变位点。 【关键词】心肌病，肥厚型；肌钙蛋白I；基因 in Ⅸ她cti佃ofmutationof IdnaseTNNDK gene cTnl-inteI砒缸g patients喇mhypertrophiccardiomyopathy WANG Hong-mei‘，GAO胍g-ming，XIAOB武，uUj沁·咖，ZHOUYan，YANGXin-chun。WANGMing—sheng． ‘OepartmerttofCardiology，ShijingshanHospital，Befjing100043，China author：WANG Corresponding Hong-mei，Email：wanghongmei329@sino．COrn nemain ofthis istoscreenintheTNNl3Kin with 【Abstract】Objective objectivestudy genepatients observerelation 1111e the between variationsandHCM．Methods hypertrophiceardiomyopathy(HCM)，and sequence activationofthekinaseweredecided were and IX．Thesedecisivesubdornains spacifieiw bysubdomainⅡ，VlB，Ⅷand encoded inTNNl3K unrelated exon and23 withHCMand30 controls by 18，19 gene．F嘶一sixgenetically patients healthy werechosenas ofex∞18—19andexon23were 2 were subjects．The两m盯combinations designed，thetargetfragments PCRmethod．ThenthePCR the method were chaintermination amplifiedtllmughamplified productssequencedby dideoxy