383例汉族正常人群TGFβ1基因启动子区-509C/T单核苷酸多态性分析  

A study on distribution of TGFβ1 gene promoter region-509C/T polymorphism in 383 cases of chinese han healthy subjects

作　　者：薛超[1] 李幼姬[2] 王一鸣[3] 黄玮俊[3] 

机构地区：[1]广西医科大学,广西南宁530021 [2]中山大学附属第一医院 [3]中山大学中山医学院

出　　处：《中国实验诊断学》2006年第10期1113-1116,共4页Chinese Journal of Laboratory Diagnosis

基　　金：国家自然科学基金(10206;No.30170523);美国中华医学基金(98-677);广东省自然科学基金(013140)

摘　　要：目的探讨我国汉族人群转化生长因子β1(TGFβ1)基因启动子区-509C/T单核苷酸多态性(NCBI SNP数据库:rs1800469)分布的特征及种群间遗传差异。方法采用PCR—RFLP结合DNA测序技术,检测鉴定383例无血缘关系的健康中国汉族个体血样DNA的基因型,并与国外其他人群相比较。结果①我国汉族人群TGFβ1-509C/T基因型多态性CC∶CT∶TT=125(0.326∶189(0.494)∶69(0.180);等位基因分布频率:C∶T=0.573∶0.427。②与日本、意大利及朝鲜人群比较,我国汉族正常人群TGFβ1基因-509C/T无论是基因型,还是等位基因分布频率均无显著性差异(P>0.05)。杂合率比较也无统计学意义(P>0.05)。结论我国汉族正常人群TGFβ1基因-509C/T存在高度多态性,与已报导的部分国外人群相比无明显遗传差异性。Objeetive To investigate the distribution of single nuclcotide polymorphisms （SNPs） at the locus -509 in TGFβ1 gene promoter region and to compare them with data from other populations.Methods Genomic DNA was extracted from 383 healthy Chinese Han subjects, genotypes of -509C/T of the TGFβ1 gene promoter region were determined by PCR-RFLP and direct DNA sequencing,results were compared with data from Japan,Italy and North korea with chi square test.Results （1） genotypes frequencies of TGFβ1 -509C/T were CC： CT：TT = 125（0.326） ： 189（0.494） ：69（0. 180, and allele frequencies were C：T= 0.573：0.427.（2） No significant difference was found in both the genotypes and alleles frequencies when compared with data from the three reported populations. Conclusion TGFβ1 gene pene promoter region -509C/T is highly heterogenous in Chinese Han population. There was no significant difference in the allele and genotype frequencies of tiffs polymorphisms among the Chinese Han and the Japanese, Italian and North Korean populations.

关 键 词：TGFΒ1 等位基因频率 单核酸多态性 

分 类 号：R394.5[医药卫生—医学遗传学]