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目的探讨p53基因内含子7多态性与口腔肿瘤遗传易感性之间的关系。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)基因型分析技术对95例口腔肿瘤患者和105名健康对照者p53内含子7ApaⅠ酶切位点多态性进行检测,并随机抽取30例以四色荧光单道测序法进一步检验。结果口腔肿瘤组等位基因频率为T-G43·2%、C-T56·8%,3种基因型分布为T-G/T-G15·8%、C-T/T-G54·7%、C-T/C-T29·5%;在健康对照组中等位基因频率T-G30·9%、C-T69·1%,基因型频率分布为T-G/T-G10·5%、C-T/T-G41·0%和C-T/C-T48·5%。等位基因频率和基因型分布在口腔肿瘤组和健康对照组差异有统计学意义(P<0·05),T-G等位基因携带者患口腔肿瘤的危险性(OR)较C-T等位基因携带者增高(OR=1·69,95%可信区间1·12~2·51),纯合子T-G/T-G和杂合子C-T/T-G型基因携带者口腔肿瘤患病危险性较纯合型C-T/C-T高(OR分别为2·48和2·20)。结论p53基因内含子7多态性可能与口腔肿瘤的发生有关,T-G等位基因可能是口腔肿瘤发生的危险因素。
Objective To investigate the relationship between p53 intron 7 polymorphism and genetic susceptibility to oral cancer. Methods PCR-RFLP genotyping was used to detect the polymorphism of 7ApaⅠ in p53 in 95 oral cancer patients and 105 healthy controls. Thirty cases were randomly selected for further examination by four-color fluorescence single-lane sequencing. Results The allele frequencies of T-G43.2% and C-T56.8% in oral tumor group were TG / T-G15.8%, CT / T-G54.7% and CT / C T29.5%; in the healthy control group, the allele frequencies were T-G30.9%, C-T69.1%, genotype frequency was TG / T-G10.5%, CT / T-G41.0% And CT / C-T48 · 5%. Allele frequency and genotype distribution in oral tumor group and healthy control group were significantly different (P <0.05), TG allele carriers with oral tumor risk (OR) than CT allele carrier (OR = 1.69, 95% confidence interval 1.12 to 2.51). The prevalence of oral cancer in homozygous TG / TG and heterozygous CT / TG carriers was significantly higher than that of homozygous CT / CT was high (OR = 2.48 and 2.20, respectively). Conclusion The intron 7 polymorphism of p53 gene may be related to the occurrence of oral tumors. The T-G allele may be the risk factor of oral tumor.