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[目的]研究山东半岛地区汉族人群中转化生长因子β1(transforming growth factorβ1,TGF-β1)基因第一外显子29T>C单核苷酸多态性与骨肉瘤的相关关系,寻找影响骨肉瘤发病的遗传因子,为临床早期发现骨肉瘤发病的高危人群并早期诊断骨肉瘤这个难题探索一条新的有效途径。[方法]采用等位基因特异性多聚酶链反应和基因测序方法,检测2006年10月～2009年10月本院骨科骨肉瘤患者42例,男27例,女15例和从本院健康查体中心获得的100例正常对照组外周血中TGF-β1基因29T>C单核苷酸多态性情况,所得数据采用SPSS 17.0软件进行统计学处理,对照组进行Hardy-Weinberg平衡差异的检验;统计结果行X列表的x2检验,以P<0.05有统计学意义,分析其与骨肉瘤之间的相关关系。[结果]骨肉瘤患者和正常对照组均存在TGF-β1基因29T>C单核苷酸多态性,其多态性在骨肉瘤患者组和正常对照组的分布无统计学差异(P=0.101),但TT基因型与TC+CC基因型分布有统计学差异(P=0.035),表明在骨肉瘤组TT型患者多(占42.86%,高于对照组25%),证明TT基因型会减少TGF-β1基因的表达,使早期TGF-β1的抑制肿瘤作用减弱。[结论]TGF-β1基因29T>C单核苷酸多态性中,TT基因型是影响骨肉瘤发病的一个重要遗传因素。
[Objective] To investigate the relationship between 29T> C single nucleotide polymorphisms of transforming growth factor-β1 (TGF-β1) gene and osteosarcoma in Chinese Han population in Shandong Peninsula, The incidence of genetic factors for the early detection of osteosarcoma in high-risk populations and early diagnosis of osteosarcoma problem to explore a new effective way. [Methods] Allele-specific polymerase chain reaction and gene sequencing methods were used to detect 42 patients with orthopedic osteosarcoma in our hospital from October 2006 to October 2009, including 27 males and 15 females, Center of the 100 cases of normal control group TGF-β1 gene 29T> C single nucleotide polymorphisms, the data obtained using SPSS 17.0 software for statistical analysis, the control group Hardy-Weinberg balance differences test; statistics Results X-line test x2, P <0.05 with statistical significance, and its correlation with osteosarcoma. [Results] There were 29T> C single nucleotide polymorphisms of TGF-β1 gene in the patients with osteosarcoma and the normal control group. There was no significant difference in the distribution of the polymorphism among osteosarcoma patients and normal controls (P = 0.101 ), But the distribution of TT genotypes and TC + CC genotypes were statistically different (P = 0.035), which indicated that there were more TT genotypes in osteosarcoma group (accounting for 42.86%, higher than that in control group), indicating that TT genotype Reduce the expression of TGF-β1 gene, so that the inhibitory effect of early TGF-β1 on the tumor weakened. [Conclusion] The TT genotype of 29T> C single nucleotide polymorphism in TGF-β1 gene is an important genetic factor affecting the pathogenesis of osteosarcoma.