中文摘要：

目的 分析瘢痕疙瘩患者TGF-β1基因-509C/T位点的多态性,探讨其与瘢痕疙瘩发生的关系及对血浆TGF-β1水平的影响. 方法 将笔者单位2011年6月-2014年4月收治的169例瘢痕疙瘩患者设为瘢痕疙瘩组,另将119名健康献血员设为健康对照组.抽取2组受试者静脉血,采用PCR-限制性片段长度多态性技术结合DNA测序检测TGF-β1基因-509C/T基因型,计算C、T等位基因频率;根据Hardy-Weinberg遗传平衡定律计算CC、CT、TT基因型的理论频数,判定受试者基因频率是否具有群体代表性;分别按性别、年龄、有无瘢痕疙瘩家族史及瘢痕疙瘩数量划分,分析瘢痕疙瘩组患者TGF-β1基因-509C/T基因型分布;采用ELISA法测定2组受试者血浆TGF-β1水平并统计瘢痕疙瘩组各种基因型患者血浆TGF-β1水平.对瘢痕疙瘩组患者等位基因频率相对风险行Logistic回归分析,对其他数据行x2检验和t检验. 结果 瘢痕疙瘩组患者和健康对照组人员的TGF-β1基因-509C/T基因型中CC、CT、TT基因型分布相近,分别为38例占22.5％、79例占46.7％、52例占30.8％与39名占32.8％、52名占43.7％、28名占23.5％（x2=4.225,P＞0.05）;C、T等位基因频率差异明显,分别为45.9％、54.1％和54.6％、45.4％（x2 =4.291,P＜0.05）.瘢痕疙瘩组患者与健康对照组人员CC、CT、TT基因型理论频数分别为35例占21.0％、84例占49.7％、50例占29.3％与35名占29.8％、59名占49.6％、25名占20.6％,实际基因型频率与理论值比较,差异无统计学意义（x2值分别为0.581和1.672,P值均大于0.05）,表明此研究群体达到了Hardy-Weinberg平衡.等位基因频率相对风险分析显示,C等位基因携带者患瘢痕疙瘩的风险是不携带C等位基因者的1.421倍（比值比为1.421,95％置信区间为1.109～1.983,P＜0.05）.瘢痕疙瘩组患者按性别、年龄和瘢痕疙瘩数量划分后,TGF-β1基因-509C/T基因型分布相近（x2值为0.895～5.008,P值均大于0.05）;有家

英文摘要：

Objective To analyze the polymorphism at-509C/T site of TGF-β1 gene in patients with keloids,and to explore its relationship with the occurrence of keloid and its influence on the plasma level of TGF-β1.Methods One hundred and sixty-nine patients with keloids and hospitalized from June 20i1 to April 2014 were included as keloid group,and 119 healthy blood donors were enrolled as healthy control group.Venous blood of study subjects was collected.The-509C/T genotype of TGF-β1 gene was determined with PCR-restriction fragment length polymorphism technique combined with DNA sequence analysis,and the frequency of allele C or T was calculated.The theoretical frequency of the 3 genotypes CC,CT,and TT was calculated according to the theory of Hardy-Weinberg equilibrium to determine whether the gene frequency of the study subject was group representative or not.The distribution of-509C/T genotype of TGF-β1 gene among patients in keloid group was analyzed by grouping in gender,age,with or without family history of keloid,and the number of keloid respectively.Plasma level of TGF-β1 of all study subjects was determined with ELISA,and the plasma level TGF-β1 of patients with various-509C/T genotypes of TGF-β1 gene in keloid group was analyzed.The relative risk of allele frequency of patients in keloid group was analyzed by Logistic regression analysis,and the other data were processed with chi-square test and t test.Results Among the-509C/T genotypes of TGF-β1 gene between subjects in the two groups,the distribution of genotypes CC,CT,and TT was quite similar,and they were respectively 38 cases （22.5%）,79 cases （46.7%）,and 52 cases （30.8%） in keloid group and 39 persons （32.8%）,52 persons （43.7%）,and 28 persons （23.5%） in healthy control group （x2 =4.225,P 〉 0.05）.The distribution frequency of alleles C and T in the two groups were obviously different,and they were respectively 45.9% and 54.1% in keloidgroup and 54.6% and 45.4% in healthy control group （x2 =4.291,P 〈0.05）.The theore