西藏藏族人群白细胞介素1β基因＋3953 C/T多态性  

Polymorphism at position ＋3953 C/T of interleukin-1β in Tibetan population in Tibet

作　　者：李宁[1] 任甫[2] 宋慧娟[1] 苏荣健[1] 温有峰[1] 席焕久[2] 

机构地区：[1]辽宁医学院基础学院,锦州121000 [2]辽宁医学院生物人类学研究所,锦州121000

出　　处：《解剖学杂志》2010年第6期785-787,805,共4页Chinese Journal of Anatomy

基　　金：国家自然科学~（30971529）;辽宁省教育厅基金（L2010254）

摘　　要：目的：研究白细胞介素1β（IL-1β）第5外显子＋3953位点核苷酸C/T多态性（SNP）在西藏藏族健康人群中的分布特点,并与其他不同种族进行比较.方法：采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）的方法,对125名西藏拉萨市藏族人群IL-1β ＋3953位点SNP进行检测,计算其基因型频率和等位基因频率,并结合文献与其他不同种族进行比较分析.结果：西藏拉萨市藏族人群IL-1β ＋3953位点基因型以CC 纯合子型最为多见,（频率为91.20%）,CT杂合子型次之（8.00%）,TT纯合子型很少（0.80%）;其等位基因分布也是以C等位基因最为多见（95.20%）,其次为T等位基因（4.80%）.西藏藏族人群的等位基因频率分布与德国、西班牙人、高加索人的差异较大,具有统计学意义.而与亚洲人群包括日本人和湖北汉族、广西汉族、广西壮族差异无统计学意义.结论：西藏拉萨市藏族人群中IL-1β ＋3953位点以C等位基因为主,其SNP分布与其他种族之间存在差异.Objective： To study the distribution of the fifth exon region ＋3953 C/T polymorphism of interleukin-1β （IL-1β） gene in Tibetan population in Tibet, and compare and analyze the distribution of single nucleotide polymorphism （SNP） among different races. Methods： Using PCR-restricton fragment length polymorphism （RFLP） method, the polymorphism at postion＋ 3953 of IL-1β exon 5 in 125 Tibetans was detected, and the genotype and allele frequencies were calculated and analyzed. Results： In Tibetan population, the most frequent genotype was CC （91.20%）, the second was CT （8. 00%）, and the last was TT （0. 80%）;the most frequent allele was C （95.20%）, and the next was T（4. 8%）. There was no significant difference in the frequency distribution of IL-113 genotype between Japan, Hubei Han, Guagnxi Han and Guangxi Zhuang populations, but the polymorphism of IL-113 ＋3953 in Tibetan population was significantly different compared with Germany, Spain and Caucasian populations. Conelusion： In Tibetan population, the most frequency allele was C of IL-1β ＋ 3953, for the SNP distribution of IL-1β ＋3953 was different between different populations.

关 键 词：白细胞介素1Β 多态性 聚合酶链反应-限制性片段长度多态性 

分 类 号：R589.2[医药卫生—内分泌]