中文摘要：

目的探讨丝/苏氨酸激酶NIMA相关激酶2（NEK2）基因rs10494938、rs10158205位点多态性与肝细胞癌（简称肝癌）家系遗传易感性的关系。方法选取广西扶绥县肝癌高发地区20个肝癌家系,包括肝癌患者20例及其直系亲属59例;另选10个正常家系（健康人群）进行对照,共40例。各家系均符合Hardy-Weinberg遗传平衡,均具有人群代表性。采用质谱方法检测NEK2基因rs10494938和rs10158205位点基因型分布频率;采用非条件Logistic回归分析法分析各家系人群等位基因及基因型分布频率的差异。结果 NEK2基因rs10494938位点存在CC和CG两种基因型,其中CC基因型114例、CG基因型5例;rs10158205位点存在CC、CT和TT三种基因型,其中CC基因型69例、CT基因型45例、TT基因型5例。肝癌家系中肝癌患者及其直系亲属、正常对照家系NEK2基因rs10494938位点CC、CG基因型及等位基因G、C分布频率比较差异均无统计学意义（P均〉0.05）,rs10158205位点CC、CT、TT基因型及等位基因T、C分布频率比较差异均无统计学意义（P均〉0.05）。结论 NEK2基因rs10494938、rs10158205位点多态性与广西扶绥县肝癌家系遗传易感性之间无相关性。

英文摘要：

Objective To investigate the correlations between NIMA-related kinase 2 （NEK2） rs10494938 and rs10158205 polymorphisms and the family clustering genetic susceptibility to hepatocellular carcinoma （HCC）. Methods We selected 20 HCC families including 20 cases of HCC patients and 59 cases of their immediate family mem- bers. In addition, 10 normal families （healthy population） were selected as the control group （40 cases）. Each family was in accordance with the Hardy-Weinberg genetic balance and was representative. The genotype distribution frequency of NEK2 rs10494938 and rs10158205 was detected by mass spectroscope. The difference in the allele and genotype distribu- tion was analyzed by unconditional logistic regression analysis. Results There were CC and CG genotypes in rs10494938 locus, including 114 cases of CC genotype and 5 cases of CG genotype. There were CC, CT and TF genotypes in rs10158205 locus, including 69 cases of CC genotype, 45 cases of CT genotype, and 5 cases of TY genotype. There were no significant differences in the frequencies of CC, CG genotypes and alleles G and C in the rs10494938 locus of NEK2 gene between the patients of HCC family, patients of non-HCC family and the normal control family （ all P 〉 0.05 ）. There were no significant differences in the frequencies of CC, CT, TIP genotypes and alleles T and C of rs10158205 locus （all P 〉 0.05）. Conclusion NEK2 rs10494938 and rs10158205 polymorphisms have no correlation with the family clustering genetic susceptibility to HCC in Fusui county of Guangxi.