中文摘要：

目的 探讨广西扶绥县原发性肝细胞癌（hepatocellular carcinoma,HCC,以下简称“肝癌”）高发家系人群DDX39基因rs12461754位点单核苷酸多态性与肝癌遗传易感性的相关性。方法 选取广西扶绥县20个肝癌高发家系共77例和10个正常对照家系共35名为研究对象,采用基质辅助激光解析电离飞行时间质谱技术（matrix assisted laser desorption ionization-time of fight-mass, MALDI-TOF-MS）检测DDX39基因rs12461754位点在两组中的基因型和等位基因频率。结果 正常对照家系组人群DDX39 基因rs12461754 位点携带A等位基因型的个体发生肝癌的风险是G等位基因型个体的0.407倍（95%CI：0.125～1.326,P=0.136）;在肝癌高发家系非肝癌组人群中,携带A等位基因型的个体发生肝癌的风险是G等位基因型个体的0.981倍（95%CI：0.298～3.326,P=0.976）; DDX39基因rs12461754位点GG、AG、AA基因型在肝癌高发家系肝癌组、肝癌高发家系非肝癌组及正常对照家系组三组间相互比较,差异无统计学意义（P〉0.05）。结论 DDX39基因rs12461754位点单核苷酸多态性与广西扶绥县肝癌家系遗传易感性无明显相关性。

英文摘要：

Objective To investigate the relationship between DDX39 rs12461754 single-nucleotide polymorphism （SNP） and family clustering genetic susceptibility to hepatocellular carcinoma（HCC） in Guangxi. Methods Genotypes and alleles at SNP rs12461754 were determined using time-of-flight mass spectrometry in 20 HCC family groups（77 cases） and 10 normal control family groups（35 cases） in Fusui County. Results Risk of HCC for individuals with the A allele of DDX39 rs12461754 was 0.407-fold （95% CI： 0.125-1.326, P=0.136） the risk for individuals with the G allele among normal control groups, while risk of HCC for individuals with the A allele was 0.981-fold（95% CI： 0.298-3.326, P=0.976） the risk for individuals with the G allele among unaffected members of HCC families. The frequencies of A and G alleles were similar between patients and unaffected individuals of HCC families（P〉0.05）. Frequencies of AA,AG,and GG genotypes did not differ significantly between patients in HCC families and unaffected individuals in HCC families or normal control families. Conclusion Alleles at the DDX39 SNP rs12461754 site may not correlate with family clustering of HCC in Guangxi.