β1肾上腺素受体基因Ser49Gly多态性与血管迷走性晕厥相关性研究  

Role of β1-adrenoceptor gene ADRB1Ser49Gly polymorphism in patients with vasovagal syncope

作　　者：黄玉娟[1,2] 黄敏[1,3] 王健怡[1,3] 张国琴[1,2] 李锦康[1,2] 刘坚[1,2] 包黎明[1,4] 

机构地区：[1]上海市儿童医院 [2]上海交通大学附属儿童医院急诊科,上海200040 [3]上海交通大学附属儿童医院心内科,上海200040 [4]上海交通大学附属儿童医院分子医学实验室,上海200040

出　　处：《临床儿科杂志》2013年第2期147-150,共4页Journal of Clinical Pediatrics

基　　金：上海卫生局青年科研基金(No.2009Y046)

摘　　要：目的探讨β1肾上腺素受体(ADRBI)基因Ser49Gly多态性在儿童血管迷走性晕厥(VVS)发病机制中的作用。方法选择132例不明原因晕厥的患儿行直立倾斜试验,其中104例直立倾斜试验阳性的患儿确认为VVS患儿,另以104例健康体检儿童为正常对照,应用高分辨率熔解曲线、聚合酶链反应、测序方法,分析ADRB1基因Ser49Gly多态性在两组间的分布。结果 VVS患儿和正常对照儿童的ADRB1 Ser/Ser、Ser/Gly和Gly/Gly基因型频率分别为74.1%、19.2%、6.7%和76.0%、18.2%、5.8%;VVS患儿和正常对照儿童的Ser49和Gly49的等位基因频率分别为78.2%、21.8%和79.7%、20.3%,两组间比较,差异均无统计学意义(P均>0.05)。结论 ADRB1基因Ser49Gly多态性与儿童血管迷走性晕厥发病无相关性。Objective To study the role of β1-adrenoceptor gene （ADRB1） Ser49Gly polymorphism in pathogenesis of vasovagal syncope （VVS） in children. Methods A total of 132 cases with unexplained syncope were chosen for head-up tilt table testing. According to the test results, 104 positive children were enrolled in VVS group. Onther 104 healthy children were selected as control group. Using high resolution melt, polymerase chain reaction and sequencing, the polymorphism of ADRBISer49GIy were analyzed. Results The frequencies ofADRB1 genotypes Ser/Ser, Ser/Gly and Gly/Gly were 74.1%, 19.2% and 6.7% in VVS respectively and 76.0%, 18.2% and 5.8% in control group respectively （P〉0.05）. The allelie frequencies of Ser49 and Gly49 were 78.2% and 21.8% respectively in VVS group, 79.7% and 20.3% in the control. No differences were found between the VVS group and control group （P〉0.05）. Conclusions No correlation was found betweenADRB1Ser49Gly polymorphism and childhood VVS.

关 键 词：Β1肾上腺素受体 基因多态性 血管迷走性晕厥 直立倾斜试验 儿童 

分 类 号：R725.4[医药卫生—儿科]