中文摘要：

目的：探讨转化生长因子-β1（TGF-β1）分子表达水平及其编码区基因多态性与多发性骨髓瘤（Multiple myeloma,MM）的关系.方法：应用ELISA方法检测标本血浆TGF-β1的浓度,应用LightCycler实时荧光PCR结合熔点曲线分析的方法检测转化生长因子-β1编码区3个基因多态性：codon10 T〉C（Leu10Pro）、codon25 G〉C（Arg25Pro）和codon263 C〉T（Thr263Ile）.结果：患者血浆TGF-β1浓度明显高于对照组,但TGF-β1基因codon10位点各种基因型和等位基因在对照组和MM患者组以及MM患者各型之间的分布频率并没有显著差异,而且MM患者各种基因型血浆TGF-β1的浓度也没有显著差异,TGF-β1基因codon25和codon263位点均不存在预想中的基因多态性.结论：转化生长因子-β1可能在多发性骨髓瘤的发生中起到一定的作用,但该因子基因编码区多态性并不会影响血浆TGF-β1的浓度,也与MM的发生以及亚型没有明确的相关性.

英文摘要：

Objective：To explore the relationship between transforming growth factor-β1 （TGF-β1） as well as the polymorphisms in encoding region of TGF-β1 and multiple myel measured by ELISA and using LightCycler real-time PCR comoma（ MM ）. Methods：The plasma concentration of TGF-β1 wasbined with melting curve, the three polymorphisms including codonlO T 〉 C （LeulOPro） ,codon25 G 〉 C（Arg25Pro） and codon263 C 〉 T（Thr263Ile） of TGF-β1 gene were analyzed in target populations. Results：The plasma concentration of TGF-β1 was significantly higher in patients with MM than that in control. However, the polymorphism T 〉 C in codon 10 of TGF-β1 gene did not show any significant difference between control group and diseased group, and there was no significant difference for the plasma concentration of TGF-β1 among different genotypes in patients with MM. Furthermore, no polymorphism was found both in codon25 and codon263 of TGF-β1 gene. Conclusion ：TGF-β1 could play a role in MM. However, the polymorphisms in encoding region of TGF-β1 gene could not influence the plasma concentration of the cytokine and are not closely related to MM.