GIRK4错义突变与新疆和田地区维吾尔族人群代谢综合征相关性研究  

The study of GIRK4 gene missense mutation about Uygur people in Hetian region of Xinjiang

作　　者：张德莲[1] 周玲[1] 洪静[1] 李南方[1] 

机构地区：[1]新疆维吾尔自治区人民医院高血压中心(新疆高血压研究所),乌鲁木齐830001

出　　处：《新疆医学》2016年第1期1-5,共5页Xinjiang Medical Journal

基　　金：新疆维吾尔自治区重点实验室专项资金项目资助(2014KL014)

摘　　要：目的新疆维吾尔族人群代谢综合征(MetS)罹患率高,本研究在前期基础上探讨G-蛋白偶联内向整流钾通道4(GIRK4)基因低频率错义突变610G>A(Met210Ile)在和田维吾尔族人群的发生率及分布特点,明确该错义突变是否与维吾尔族代谢综合征有关。方法应用Taq Man-PCR技术在新疆和田维吾尔族自然人群中对外显子2区630G>A,Met210Ile错义突变进行基因分型。结果该位点仅有GG和GA两种基因型;最小等位基因频率<0.005(为0.0028);发生突变的7例个体均为腹型肥胖患者。对突变序列保守性分析显示,该位点中度保守。结论 GIRK4基因630G>A(Met210Ile)错义突变可能与新疆维吾尔族人代谢综合征不相关性,但可能与超重与腹型肥胖有关。因其发生频率低,有待于进一步行功能试验验证。Objective Metabolic syndrome（Met S） is popular and has become one of public health issues in the world. Recently,researchers reported that G protein-coupled inward rectifier K＋ channels 4 gene（GIRK4,KCNJ5） is involved in the development of obesity, which is a key component of Met S. Meanwhile, studies showed that the prevalence of Met S in Xinjiang Uygur people is higher than that in other ethnic groups in China. Therefore, according to our previous case-control associations study we wanted to explore distribution information in different ethic groups about the rare low frequency missense mutation 610 G 〉A（Met210Ile） of GIRK4 and to analyze whether the rare mutation is related with Met S in Xinjiang Uygur people. Methods Genotyping by the Taq Man polymerase chain reaction method was performed for one missense mutation（630GA, Met210Ile）in the general population, with a sample size of 1352 individuals.There were 7 people with 630G〉A, Met210 Ile. Results There were only two genotypes, those are GC and GA in 48 individuals screening sequenced and in general population. All of carriers of the 630G〉A mutation were people with center obese based on Asia diagnosis model,but not Met S. Meanwhile the type of rare missense mutation was modest conservation type. Conclusion A new mutation, 630G〉A（M210I） of GIRK4 might be resulted in development of abdominal obesity in Uygur people. It is necessary to do further investigation about 630G〉A variation in order to elucidate possible functional changes due to its low incidence.

关 键 词：代谢综合征 GIRK4基因多态性 关联研究 错义突变 

分 类 号：R544.1[医药卫生—心血管疾病]