海南汉族和黎族人群1型糖尿病患者MICA基因多态性研究  

Research on polymorphism of MICA genes in patients with type I diabetes mellitus in the Han and Li populations in Hainan province

作　　者：肖曦[1] 林丹琴 高敏捷 翁雪燕 符先先[1] 李春芸[1] 夏欢 罗斌[2] 李锋[1] 余洋 魏小斌[1] 

机构地区：[1]中南大学湘雅医学院附属海口医院检验科,570208 [2]海南省第二人民医院

出　　处：《中华检验医学杂志》2018年第2期116-121,共6页Chinese Journal of Laboratory Medicine

基　　金：海南省社会科技发展专项项目（2015SF08）;海口市重点科技项目（2013-SKG-13-030）

摘　　要：目的探讨主要组织相容性复合体I类分子链相关基因A （MICA）基因多态性在海南汉族、黎族人群中的分布情况，分析MICA基因多态性与1型糖尿病（T1DM）的相关性。方法病例对照研究。选取2015年6月至2016年12月来自海南省五指山市、陵水县、琼中县、白沙县、乐东县、昌江县、东方市、海口市就诊的，海口市人民医院、海南省第二人民医院的汉族、黎族T1DM患者各55例及健康体检者各55名（其中汉族T1DM患者，男35例，女20例；汉族健康体检者，男28名，女27名。黎族T1DM患者，男33例，女22例；黎族健康体检者，男28名，女27名）。采用聚合酶链反应－直接测序分型（PCR－SBT）方法进行MICA基因分型。采用χ2检验对MICA等位基因频率进行相关性分析。结果海南汉族健康人群共检测出11种MICA序列等位基因和5种MICA－STR序列等位基因，黎族健康人群分别为13种和5种，其中汉族MICA＊008：01和A5检出频率最高[分别为30.85%（29/94例），41.49%（39/94例）]，黎族MICA＊002：01和A4检出频率最高[分别为21.57 %（22/102例），36%（36/100例）]；汉族T1DM患者人群共检测出10种MICA序列等位基因和5种MICA－STR序列等位基因，黎族分别为9种和5种，其中汉族MICA＊002：01和A9检出频率最高[分别为29%（29/100例），29.29%（29/99例）]，黎族MICA＊012：01、MICA＊002：01和A4最常见[分别为21.15%（22/104例），21.15%（22/104例），38.24%（39/102例）]。海南汉族人群与T1DM患者人群MICA＊002：01、MICA＊010、MICA－A5、MICA－A6和MICA－A9等位基因的频率（健康人群分别为：5.32%，22.34%, 41.49 %，9.58%，6.38%；T1DM患者人群分别为：29%，7%，26.26%，2.02%，29.29%），差异有统计学意义（χ2值分别为：18.799，9.233，5.218，5.197，16.762；P值分别为：0.000，0.002, 0.025，0.024，0.000，P〈0.05）；黎族健康人群各MICA等位基因频率（分别为：17ObjectiveTo investigate the genetic diversity of MICA, and to analyze the correlation between genetic polymorphisms of MICA and T1DM in population of Han and Li nationalities in Hainan province.MethodsThis study was performed as a case-control study. Fifty-five individuals with T1DM and Fifty-five healthy controls of Han and Li nationalities from Wuzhishan, Lingshui, Qiongzhong, Baisha, Ledong, Changjiang, Dongfang and Haikou regions in Hainan province（35 Male, 20 Female of T1DM of Han; 28 Male, 27 Female of healthy controls of Han; 33 Male, 22 Female of T1DM of Li; 28 Male, 27 Female of healthy controls of Li）, were enrolled for the study. MICA allelic variation was analyzed by sequencing-based typing （PCR-SBT）. Fisher′s exact test was performed to determine the statistical significance of the distribution and allele frequency of MICA.ResultsIn healthy population, 11 MICA-sequence and 5 MICA-STR alleles were found in Han nationality, while 13 MICA-sequence and 5 MICA-STR alleles were detected in Li nationality. The MICA-sequence allele MICA＊008： 01 and the MICA-STR allele MICA-A5 were most frequently observed in Han nationality[30.85%（29/94） and 41.49%（39/94）, respectively], while MICA＊002： 01 and A4 were the most common in Li nationality [21.57% （22/102）and 36%（36/100）, respectively]. Among patients with T1DM, 10 MICA-sequence and 5 MICA-STR alleles were detected in Han, and 9 MICA-sequence and 5 MICA-STR alleles were found in Li. MICA＊002： 01 and A9 were most frequently observed in Han [29%（29/100）, 29.29%（29/99）, respectively] , while MICA＊012： 01, MICA＊002： 01 and the A4 were the most common in Li [21.15%（22/104）, 21.15%（22/104）, 38.24%（39/102）, respectively]. The allelic frequency of MICA＊002： 01, MICA＊010, MICA-A5, MICA-A6 and MICA-A9 between the healthy population and T1DM patients of Han nationality（5.32%, 22.34%, 41.49 %, 9.58%, 6.38%, respectively in healthy population; 29%, 7%, 26.26%, 2.02%, 29.29%, respectively in T1DM patient

关 键 词：MHC-I类链相关基因 基因多态性 黎族 汉族 1型糖尿病 

分 类 号：R440[医药卫生—诊断学] R587.1[医药卫生—临床医学]