中文摘要：

目的探讨转化生长因子口（TGF-β1）基因多态性与广西人群肝癌高发家族聚集性的相关性，为临床资料提供参考依据。方法采用PCR-RFLP技术对53例家族聚集性肝癌患者（FH组）、60例非家族聚集性肝癌患者进行检测（NFH组）、65名正常人群（N组）外周血转化生长因子阻基因的3个多态性位点（rs1800469；rs11466345；rs747857）基因型情况，所有数据采用SPSS13．0统计进行分析。结果TGF-β1-B位点（rs11466345）C／C基因型频率FH组为52．8％，明显高于NFH组的25．0％及N组的27．7％，差异有统计学意义（χ2=15．2，14．4，P〈0．05）；TGF-β1-C位点（rs747857）G／A基因型频率FH组为50．9％、NFH组为46．7％，明显高于N组的24．6％，差异有统计学意义（P〈0．05）。结论TGF-β1基因多态性可能与广西肝癌家族聚集性相关，携带TGF-β1-B位点C／C基因型或（和）TGF-β1-C位点G／A基因型等位基因，可能会增加肝癌高发家族成员患肝癌的风险。

英文摘要：

OBJECTIVE To explore the correlation between transforming growth factor 131 （TGF-β1） genetic poly- morphism and familial aggregation of liver cancer in Guangxi population with high incidence of liver cancer and provide reference for clinical data. METHODS The 53 patients with family clustering live cancer （FH group）, 60 patients with nonfamily clustering liver cancer （NFH group） and 65 normal persons （N group） were detected for the genotype situation of three SNP （rs1800469; rs11466345; rs747857） polymorphic sites of TGF-β1 in peripheral blood with PCR-RFLP technique. All data were statistically analyzed with SPSS 13.0. RESULTS The C/C genotype frequency at TGF-β1-B locus （rs11466345） in FH group （52.8%） was significantly higher than that in NFH group （25.0 %） and N group （27.70%） （χ2 = 15.2, 14.4, P〈 0.05）. The G/A genotype frequencies at TGF-β1-C locus （rs747857） in FH group （50.9%） and NFH group （46.7%） were significantly higher than in N group （24. 6 %） （P 〈 0.05）. CONCLUSION TGF-β1 genetic polymorphism is possibly associated with familial aggregation of liver cancer in Guangxi. Carrying TGF-β1-B C/C genotype or TGF-β1-C G/A genotype may increase the risk of live cancer in family members with high incidence.