北京新生儿内皮源性一氧化氮合酶894G/T及4a/bVNTR基因多态性分布  

Distribution of endothelial nitric oxide synthase 894G/T and 4a/b VNTR gene polymorphisms in Beijing newborns

作　　者：莫嫣娉 付洁 常丽丽[3] 刘京涛 马朋林 Mo Yan-ping;Fu Jie;Changli-li;Liu Jing-tao;Ma Peng-lin(Department of Medical Administration,Bejing Ditan Hospital,Capital Medical University,Beijing 100015,China)

机构地区：[1]首都医科大学附属北京地坛医院医务处,北京100015 [2]蛋白质药物国家工程研究中心精准医疗实验室,北京102206 [3]山西医科大学,山西太原030001 [4]解放军第八医学中心ICU,北京100091

出　　处：《中国急救医学》2020年第6期475-479,共5页Chinese Journal of Critical Care Medicine

基　　金：国家自然科学基金资助项目(81071592)。

摘　　要：目的探讨内皮源性一氧化氮合酶(eNOS)894G/T及4a/b VNTR基因多态性在北京新生儿群体中的分布特征及其与既往文献报道其他种族该基因多态性的分布差异.方法收集原代培养新生儿脐静脉内皮细胞、提取基因组DNA,应用聚合酶链反应检测eNOS 894G/T及4a/b VNTR基因多态性.通过Pubmed、中国知网及万方数据检索2005~2019年文献报道的部分其他种族该基因多态性分布情况.结果①222例北京新生儿eNOS基因894G/T多态性中GG、GT、TT基因型频率分别为81.53%、17.12%、1.35%,与文献报道北京成年汉族人(χ^2=0.104,P=0.949)、印度人(χ^2=3.425,P=0.180)、非洲人(χ^2=2.248,P=0.325)及韩国人(χ^2=4.138,P=0.126)比较差异无统计学意义,而与阿拉伯人(χ^2=15.734,P=0.000)及土耳其人(χ^2=31.245,P=0.000)比较差异有统计学意义.②274例北京新生儿eNOS基因4a/b VNTR的aa、ab、bb基因型频率分别为1.10%、12.77%、86.13%,与文献报道北京成年汉族人(χ^2=1.829,P=0.401)、河南汉族人(χ^2=0.869,P=0.647)、韩国人(χ^2=5.346,P=0.069)比较差异无统计学意义;与其他种族人群比较,印度人(χ^2=40.226,P=0.000)、非洲人(χ^2=138.515,P=0.000)、阿拉伯人(χ^2=48.655,P=0.000)、土耳其人(χ^2=27.751,P=0.000)、意大利人(χ^2=20.261,P=0.000)比较差异有统计学意义.结论我国北京新生儿eNOS 894G/T基因多态性与部分亚洲人、非洲人相同,与阿拉伯及土耳其人不同;而4a/b VNTR基因多态性与国内汉族人、韩国人相同,与国外其他种族不相同.Objective To investigate the distribution of endothelial nitric oxide synthase(eNOS)894G/T and 4a/b VNTR gene polymorphisms in Beijing newborns and the difference in comparison with various ethnic groups reported in literatures.Methods Genome DNA was extracted from primary cultured human umbilical venous endothelial cells(HUVEC).eNOS 894G/T and 4a/b VNTR gene were determined by polymerase chain reaction(PCR).Distribution of these gene polymorphisms in various ethnic populations was searched in Pubmed and CNKI with a limitation of date from 2005 to 2019.Results①The GG,GT and TT genotype frequencies of 894G/T polymorphisms in.222 Beiing newborms were 81.53%,17.12%,1.35%respectively.It didn't show statistical diference in comparing with Beiing adult Hans(χ^2=0.104,P=0.949),Indians(χ^2=3.425,P=0.180),Africans(χ^2=2.248,P=0.325)and Koreans(χ^2=4.138,P=0.126),while was diferent from Arabs(χ^2=15.734,P=0.000)and Turks(χ^2=31.245,P=0.000).②The eNOS gene 4a/b VNTR in 274 Beijing newborns has aa,ab,and bb genotype frequencies of 1.10%,12.77%,86.13%,respectively,which didn't show statistical differences compared with Beiing adult Hans(χ^2=1.829,P=0.401),Henan Hans(χ^2=0.869,P=0.647),and Koreans(χ^2=5.346,P=0.069).But it's statistically diferent from other ethnie groups of foreign countries,such as Indians(χ^2=40.226,P=0.000),Africans(χ^2=138.515,P=0.000),Arabs(χ^2=48.655,P=0.000),Turks(χ^2=27.751,P=0.000),and Italians(χ^2=20.261,P=0.000).Conclusion The eNOS 894G/T gene polymorphism in Bejing newborns is identical to some of other Asians and Africans,but it is diferent from that of Arabs and Turks.The 4a/b VNTR gene polymorphism is diferent from other foreign races but is the same as the Hans and Koreans.

关 键 词：内皮源性一氧化氮合酶(eNOS) 基因频率 基因多态性 聚合酶链反应(PCR) 

分 类 号：R722.1[医药卫生—儿科]