广西壮族与汉族人群E-选择素基因的遗传多态性（摘要）

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	Distribution of E-selectin gene polymorphism in the Zhuangs and Hans of Guangxi province in China 韦叶生　 蓝艳　 杜诗库　 摘　要：目的研究E-选择素(E-selectin)基因第2外显子G98T和第4外显子S128R遗传多态性在广西壮、汉两民族中的分布.方法采用聚合酶链反应-限制性片段长度多态性和DNA序列测定法检测162名壮族人和170名汉族人E-选择素基因第2外显子G98T和第4外显子S128R遗传多态性,比较两组E-选择素基因型和等位基因的分布频率.结果 E-选择素基因第2外显子等位基因G、T频率在壮族与汉族正常人群中分别为94.8%、5.2%和95.3%、4.7%;第4外显子等位基因S、R频率分别为92.0%、8.0%和95.9%、4.1%(χ2=4.482,P=0.034).结论 E-选择素基因 S128R多态性在广西壮、汉两民族中差异有显著性;E-选择素基因G98T多态性在广西壮、汉两民族中差异无显著性. 关键词：E-选择素基因;遗传多态性;壮族;汉族 基金项目：广西省教育厅基金(200420) 作者单位：韦叶生（533000,百色,广西右江民族医学院附属医院检验科）　 　　　　　蓝艳（533000,百色,广西右江民族医学院附属医院皮肤科）　 　　　　　杜诗库（533000,百色,广西右江民族医学院附属医院检验科）　 参考文献： Shyu KG, Chang H, Lin CC, et al. Circulating intercellular adhesion molecule-1 and E-selectin in patients with acute coronary syndrome. Chest, 1996, 109:1627-1630. Blann AD, McCollum CN, Lip GY. Relationship between plasma markers of endothelial cell integrity and the Framingham cardiovascular disease risk-factor scores in apparently healthy individuals. Blood Coagul Fibrinolysis, 2002,13:513-518. Ellsworth DL, Bielak LF, Turner ST, et al. Gender- and age-dependent relationships between the E-selectin S128R polymorphism and coronary artery calcification. J Mol Med,2001,79:390-398. Wenzel K,Blackburn A,Ernst M,et al. Relationship of polymorphisms in the renin-angiotensin system and in E-selectin of patients with early severe coronary heart disease. J Mol Med, 1997, 75:57-61. Ye SQ, Usher D, Virgil D, et al. A PstⅠ polymorphism detects the mutation of serine128 to arginine in CD 62E gene-a risk factor for coronary artery disease. J Biomed Sci,1999,6:18-21. Bannan S,Mansfield MW,Grant PJ. Soluble vascular cell adhesion molecule-1 and E-selectin levels in relation to vascular risk factors and to E-selectin genotype in the first degree relatives of NIDDM patients and in NIDDM patients. Diabetologia, 1998,41:460-466. El-Magadmi M, Alansari A, Teh LS, et al. Association of the A561C E-selectin polymorphism with systemic lupus erythematosus in 2 independent populations. J Rheumatol, 2001, 28:2650-2652. Zheng F, Chevalier JA, Zhang LQ, et al. An HphⅠ polymorphism in the E-selectin gene is associated with premature coronary artery disease.Clin Genet, 2001, 59:58-64. Rauchhaus M, Gross M, Schulz S, et al. The E-selectin SER128ARG gene polymorphism and restenosis after successful coronary angioplasty. Int J Cardiol, 2002,83:249-257. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acid Res, 1998, 16:1215. Vogel M. Human Genetics. In: Translation by Luo HY. Human Genetics Problems and Approaches. 3rd ed. Beijing: People Health Publication, 1999. 749-750. [Vogel M. 人类遗传学. 见罗会元译. 人类遗传学问题与方法. 第3版. 北京: 人民卫生出版社, 1999. 749-750.] Wenzel K, Felix S, Kleber FX, et al. E-selectin polymorphism and atherosclerosis: an association study. Hum Mol Genet, 1994, 3:1935-1937. Wenzel K, Ernst M, Rohde K, et al. DNA polymorphisms in adhesion molecule genes: a new risk factor for early atherosclerosis. Hum Genet,1996, 97:15-20. 中华医学遗传学杂志 CHINESE JOURNAL OF MEDICAL GENETICS 2004 Vol.21 No.6 P.643-645 收稿日期：2003年12月20日 出版日期：2004年12月10日 [此贴子已经被作者于2005-5-19 17:10:37编辑过]

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