纲要541年心脏通道突变连续长QT综合征病人基因测试无关。
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试验机DJ,毫升,Haglund厘米,Ackerman乔丹
纲要541年心脏通道突变连续长QT综合征病人基因测试无关。
心律。2005;2(5):507 - 17所示。
- PubMed ID
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15840476 (在PubMed]
- 文摘
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目的:本研究的目的是确定心脏的频谱和流行频道连续突变中有一大群人,无关的病人长QT综合征(LQTS)基因检测。背景:先天性心脏channelopathy LQTS是主。300多个基因突变已确定在5编码离子通道亚单位的关键。直到最近发布的商业临床基因检测,LQTS基因检测在过去十年中一直在研究实验室。必威国际app方法:心脏通道KCNQ1基因筛查LQTS-causing突变(LQT1) KCNH2 (LQT2) SCN5A (LQT3) KCNE1 (LQT5)和KCNE2 (LQT6)连续541年执行,不相关的患者(358名女性,平均年龄在诊断24 + / - 16年,482 + / - 57普通高职院校学前教育专业)女士提到梅奥诊所的突然死亡对LQTS基因检测基因组学实验室1997年8月至2004年7月。全面开放阅读框和拼接的网站分析60编码外显子进行了使用聚合酶链反应、变性高效液相色谱法和DNA测序。结果:总体而言,211年KCNQ1公认的致病突变(88),KCNH2 (89), SCN5A (32), KCNE1(1),和KCNE2(1)在272年被发现无关的患者(50%)。基因型阳性患者(N = 272), 243年单致病性突变(LQT1: N = 120例;LQT2: n = 93;LQT3: n = 26; LQT5: n = 3; LQT6: n = 1), and 29 patients (10% of genotype-positive patients and 5% overall) had two LQTS-causing mutations. The majority of mutations were missense mutations (154/210 [73%]), singletons (identified in only a single unrelated patient: 165/210 [79%]), and novel (125/211 [59%]). None of the mutations identified were seen in more than 1,500 reference alleles. Those patients harboring multiple mutations were younger at diagnosis (15 +/- 11 years vs 24 +/- 16 years, P = .003). CONCLUSIONS: In this comprehensive cardiac channel gene screen of the largest cohort of consecutive, unrelated patients referred for LQTS genetic testing, half of the patients had an identifiable mutation. The majority of mutations continue to represent novel singletons that expand the published compendium of LQTS-causing mutations by 35%. These observations should facilitate diagnostic interpretation of the clinical genetic test for LQTS.