研究论文

维吾尔族内皮型一氧化氮合酶基因4a/b VNTR多态性分布特征

  • 多力坤·买买提玉素甫, 布帕提玛穆·阿布都克热穆, 伊力哈木·乃扎木, 宋曼殳, 热比亚木·巴克
展开
  • 1. 新疆大学生命科学与技术学院, 乌鲁木齐830046;
    2. 首都医科大学公共卫生与家庭医学学院, 北京100069
多力坤·买买提玉素甫,教授,研究方向为人类与分子医学遗传学,电子信箱duolikun530@126.com;布帕提玛穆·阿布都克热穆,硕士研究生,研究方向为人类分子遗传学,电子信箱bupatima920@126.com

收稿日期: 2014-10-22

  修回日期: 2015-01-23

  网络出版日期: 2015-04-10

基金资助

国家自然科学基金项目(31460285);新疆维吾尔自治区自然科学基金项目(2013211A016);新疆维吾尔自治区科技支疆项目(201191247)

Distribution of endothelial nitric oxide synthase gene intron 4a/b VNTR polymorphism in Uyghur population

  • MATYUSUP Dolkun, ABDUKERAM Bupatima, NIZAM Yilihamu, SONG Manshu, BAKE Rabiya
Expand
  • 1. College of the Life Science and Technology, Xinjiang University, Urumqi 830046, China;
    2. School of Public Health and Family Medicine, Capital Medical University, Beijing 100069, China

Received date: 2014-10-22

  Revised date: 2015-01-23

  Online published: 2015-04-10

摘要

应用聚合酶链式反应(PCR)-琼脂糖凝胶电泳技术, 检测99 例(男性38 例, 女性61 例)无血缘关系的维吾尔族健康人群的内皮型—氧化氮合酶(endothelial nitric oxide synthase, eNOS)基因第4 内含子数目可变性串联重复序列(4a/b VNTR)多态性, 探讨eNOS 基因4a/b VNTR 多态性在中国维吾尔族健康人群中的分布特征。结果发现, 99 例健康维吾尔族人群中, aa 基因型频率为2.02%(4 例), ab 基因型频率为22.22%(22 例), bb 基因型频率为75.76%(75 例)。男女两组基因型和等位基因的分布差异不显著(P=0.194, P=0.382, P>0.05)。aa、ab、bb、ab+bb 基因型的各种生理生化指标用单因素方差分析进行比较, 不同基因型的生理生化指标之间的差异无统计学意义(P>0.05)。维吾尔族eNOS 基因4a/b VNTR 多态性与国内外各民族群体进行比较, 维吾尔族人群eNOS 基因aa+ab 基因型频率显著低于河南汉族、中国台湾汉族、北方汉族和巴西黑人(P<0.05, P< 0.01), 明显高于广东汉族(P=0.050)。a、b、c 3 种等位基因进行比较, 维吾尔族与河南汉族、中国台湾汉族、广东汉族、法国人和巴西黑人有显著性差异(P<0.05, P< 0.01)。结果显示, eNOS 基因4a/b VNTR 多态性符合Hardy-Weinbery 遗传平衡规律(χ2=0.017, P=0.991, P>0.05), 群体具有代表性。由此得出, 维吾尔族eNOS 基因4a/b VNTR 多态性与国内外的一些民族间存在显著性差异。

本文引用格式

多力坤·买买提玉素甫, 布帕提玛穆·阿布都克热穆, 伊力哈木·乃扎木, 宋曼殳, 热比亚木·巴克 . 维吾尔族内皮型一氧化氮合酶基因4a/b VNTR多态性分布特征[J]. 科技导报, 2015 , 33(6) : 101 -106 . DOI: 10.3981/j.issn.1000-7857.2015.06.017

Abstract

To investigate the distribution of the intron 4 variable number of tandem repeats (4a/b VNTR) polymorphism of the endothelial nitric oxide synthase (eNOS) gene, 99 unrelated Uyghur healthy individuals (including 38 males and 61 females) are selected and tested by means of polymerase chain reaction (PCR)-agarose gel electrophoresis. All subjects are genotyped for the eNOS gene. It is shown that the frequencies of the aa, ab, bb genotypes are 2.02% (4 cases), 22.22% (22 cases), 75.76% (75 cases), respectively. The genotype frequency and the allele frequency are not related to the sex (P=0.194, P=0.382, P>0.05). The single factor analysis of various physiological and biochemical indexes shows that the differences of all biochemical parameters are not statistically significant (P>0.05). In the Uyghur population, the frequency of the aa+ab genotypes is significantly lower than those of the Henan Han population, the Taiwan Han population, the Northern Han population and the Black Brazil population (P<0.05, P< 0.01), but is significantly higher than that of the Guangdong Han population (P=0.050). A comparison of a, b, c three allele frequencies shows that the Uyghur has a significantly different frequency from those of the Henan Han, the Taiwan Han, the Jilin Han, the Guangdong Han, the French and the Black Brazil (P<0.05, P< 0.01). In short, the eNOS gene 4a/b VNTR is in line with the Hardy-Weinbery balance law (χ2=0.017, P=0.991, P>0.05), and the group is representative. It is concluded that there is a significant difference between the Uyghur eNOS gene 4a/b VNTR polymorphism and some ethnic groups.

参考文献

[1] Nadaud S, Bonnardeaux A, Lathrop M, et al. Gene structure, polymorphism and mapping of the human endothelial nitric oxide synthase gene[J]. Biochemical and Biophysical Research Communications, 1994, 198(3): 1027-1033.
[2] Forte P, Copland M, Smith L M, et al. Basal nitric oxide synthesis in essential hypertension[J]. The Lancet, 1997, 349(9055): 837-842.
[3] Komatsu M, Kawagishi T, Emoto M, et al. ecNOS gene polymorphism is associated with endothelium-dependent vasodilation in type 2 diabetes[J]. American Journal of Physiology-Heart and Circulatory, 2002, 283(2): H557-H561.
[4] Wang X L, Sim A S, Badenhop R F, et al. A smoking-dependent risk of coronary artery disease associated with a polymorphism of the endothelial nitric oxide synthase gene[J]. Nature Medicine, 1996, 2(1): 41-45.
[5] Hooper W C, Lally C, Austin H, et al. The relationship between polymorphism in the endothelial cell nitric oxide synthase gene and the platelet GPIIIa gene with myocardial infarction and venous thrombolism in African Americans[J]. Chest, 1999, 116(4): 880-886.
[6] Uwabo J, Soma M, Nakayama T, et al. Association of a variable number of tandem repeats in the endothelial constitutive nitric oxide synthase gene with essential hypertension in Japanese[J]. American Journal of Hypertension, 1998, 11(1): 125-128.
[7] 黄惠彬, 林丽香, 陈鸣钦. 内皮型一氧化氮合酶基因多态性与原发性 高血压、2型糖尿病的关系[J]. 中华内分泌代谢杂志, 2002, 18(1): 16-19. Huang Huibin, Lin Lixiang, Chen Mingqin. Association of polymorphism of endothelial nitric oxide synthase gene with essential hypertension and type 2 diabetes mellitus[J]. Chinese Journal of Endocrinology and Metabolism, 2002, 18(1): 16-19.
[8] Hong Q, Ding R, Chen X M, et al. Association between endothelial nitric oxide synthase gene 4a/b polymorphism and IgA nephropathy[J]. Journal of Southern, Medical University, 2006, 26(10): 1421-1422, 1430.
[9] Zhao Q, Su S Y, Chen S F, et al. Association study of the endothelial nitric oxide synthase gene polymorphisms with essential hypertension in northern Han Chinese[J]. Chinese Medical Journal, 2006, 119(13): 1065-1071.
[10] 杨冬之, 于辉, 赵洛沙, 等. 河南汉族正常人群内皮型一氧化氮合酶 基因4a/b VNTR多态性分布[J]. 郑州大学学报, 2007, 42(3): 419-421. Yang Dongzhi, Yu Hui, Zhao Luosha, et al. Distribution of endothelial nitric oxide synthase gene intron 4a/b VNTR polymorphism in Han population of Henan province[J]. Journal of Zhengzhou University, 2007, 42(3): 419-421.
[11] Lee Y J, Chang D M, Tsai J C. Association of a 27-bp repeat polymorphism in intron 4 of endothelial constitutive nitric oxide synthase gene with serum uric acid levels in Chinese subjects with type 2 diabetes[J]. Metabolism, 2003, 52(11): 1448-1453.
[12] 刘学军, 陈盛强, 柳息洪. 广东汉族人内皮细胞型一氧化氮合酶4b/a 基因多态性[J]. 国际医药卫生导报, 2003, 9(8): 24-26. Liu Xuejun, Chen Shengqiang, Liu Xihong. Genetic polymorphism of eNOS 4b/a in the Han of Guangdong[J]. International Medicine & Health Guidance, 2003, 9(8): 24-26.
[13] 邹放君, 唐斌, 何芳, 等. eNOS基因27bp VNTR多态性与新疆汉族 原发性高血压的相关性研究[J]. 石河子大学学报, 2011, 29(3): 310-312. Zou Fangjun, Tang Bin, He Fang, et al. The association of the 27bp VNTR polymorphism of the eNOS gene with essential hypertension in Han of Xinjiang[J]. Journal of Shihezi University, 2011, 29(3): 310-312.
[14] 李淼, 李冰, 吴琼, 等. 中国吉林省地区朝鲜族及汉族正常人群内皮 型一氧化氮合酶基因4a/b VNTR多态性分布的比较研究[J]. 中国实 验诊断学, 2013, 17(2): 214-216. Li Miao, Li Bing, Wu Qiong, et al. Observation and comparison of 4a/b VNTR polymorphism of eNOS gene between unrelated healthy individuals from Han people and Korean in Jilin Province in China[J]. Chinese Journal of Laboratory Diagnosis, 2013, 17(2): 214-216.
[15] 张强, 邓峰美, 刘成, 等. eNOS基因27bp VNTR多态性与新疆哈萨 克族和汉族原发性高血压的对比分析[J]. 石河子大学学报, 2011, 29 (5): 593-597. Zhang Qiang, Deng Fengmei, Liu Cheng, et al. Association of the Polymorphisms for the eNOS gene 27bp VNTR with the essential hypertension between Kazak and Han population in Xinjiang[J]. Journal of Shihezi University, 2011, 29(5): 593-597.
[16] Tanus-Santos J E, Desai M, Flockhart D A. Effects of ethnicity on the distribution of clinically relevant endothelial nitric oxide variants[J]. Pharmacogenetics, 2001, 11(8): 719-725.
[17] Lee Y H, Kim H J, Rho Y H, et al. Inton 4 polymorphism of the endothelial nitric oxide synthase gene is associated with the development of lupus nephritis[J]. Lupus, 2004, 13(3): 188-191.
[18] Yoon S, Shin C, Park H Y, et al. Endothelial nitric oxide synthase gene is associated with vessel stenosis in Korean population[J]. Clinica Chimica Acta, 2005, 353(1): 177-185.
[19] Fatini C, Sofi F, Sticchi E, et al. Influence of endothelial nitric oxide synthase gene polymorphisms (G894T, 4a4b, T-786C) and hyperhomocysteinemia on the predisposition to acute coronary syndromes[J]. American Heart Journal, 2004, 147(3): 516-521.
[20] Luizon M R, Izidoro-Toledo T C, Simoes A L, et al. Endothelial nitric oxide synthase polymorphisms and haplotypes in Amerindians[J]. DNA and Cell Biology, 2009, 28(7): 329-334.
[21] Khajoee V, Kariyazono H, Ohno T, et al. Inducible and endothelial constitutive nitric oxide synthase gene polymorphisms in Kawasaki disease[J]. Pediatrics International, 2003, 45(2): 130-134.
[22] Taverna M J, Sola A, Guyot-Argenton C, et al. eNOS 4 polymorphism of the endothelial nitric oxide synthase predicts risk for severe diabetic retinopathy[J]. Diabetic Medicine, 2002, 19(3): 240-245.
[23] Hassan A, Gormley K, O'Sullivan M, et al. Endothelial nitric oxide gene haplotypes and risk of cerebral small-vessel disease[J]. Stroke, 2004, 35 (3): 654-659.
[24] Serrano T, Piazuelo E, Benito R, et al. Bleeding duodenal ulcer and association with polymorphism of endothelial constitutive nitric oxide synthase gene[J]. Digestive Diseases and Sciences, 2002, 47(5): 996-1000.
[25] Arif E, Ahsan A, Vibhuti A, et al. Endothelial nitric oxide synthase gene variants contribute to oxidative stress in COPD[J]. Biochemical and Biophysical Research Communications, 2007, 361(1): 182-188.
[26] Pulkkinen A, Viitanen L, Kareinen A, et al. Intron 4 polymorphism of the endothelial nitric oxide synthase gene is associated with elevated blood pressure in type 2 diabetic patients with coronary heart disease[J]. Journal of Molecular Medicine, 2000, 78(7): 372-379.
[27] Wang X L, Mahaney M C, Sim A S, et al. Genetic contribution of the endothelial nitric oxide synthase gene to plasma nitric oxide levels[J]. Arteriosclerosis, Thrombosis, and Vascular Biology, 1997, 17(11): 3147-3153..
[28] 岳枚, 喻晓兵, 戴虹, 等. 内皮型一氧化氮合酶基因第4内含子中27 碱基对重复序列多态性与糖尿病视网膜病变的相关性研究[J]. 中华 眼底病杂, 2011, 27(3): 214-217. Yue Mei, Yu Xiaobing, Dai Hong, et al. Diabetic retinopathy and variable number tandem repeat polymorphism in intron 4 of endothelial nitric oxide synthase gene[J]. Chinese Journal of Ocular Fundus Diseases, 2011, 27(3): 214-217.
[29] Tsukada T, Yokoyama K, Arai T, et al. Evidence of association of the ecNOS gene polymorphism with plasma NO metabolite levels in humans[J]. Biochemical and Biophysical Research Communications, 1998, 245(1): 190-193.
文章导航

/