p53内含子7多态性与口腔肿瘤遗传易感性的关系  

p53 gene intron 7 polymorphism and its association with oral neoplasms

作　　者：李叶青 李运良[1] 顾其华[2] 叶爱慧418000 邬通生418000 

机构地区：[1]中南大学湘雅第二医院口腔科 [2]中南大学湘雅医院呼吸内科 [3]湖南怀化市第一人民医院口腔科

出　　处：《中华口腔医学杂志》2005年第5期386-389,共4页Chinese Journal of Stomatology

摘　　要：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7 ApaⅠ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-G 43.2%、C-T 56.8%,3种基因型分布为T-G/T-G 15.8%、C-T/T-G 54.7%、C-T/C-T 29.5%;在健康对照组中等位基因频率T-G 30.9%、C-T 69.1%,基因型频率分布为T-G/T-G 10.5%、C-T/T-G 41.0%和C-T/C-T 48.5%.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 association between oral neoplasm genetic susceptibility and genetic polymorphism of p53 intron 7. Methonds The intron 7 Apa Ⅰ polymorphism of p53 was analyzed in 95 oral neoplasm patients and 105 healthy individuals by utilizing polymerase chain reationrestriction fragment length polymorphism （PCR-RFLP） genotypeing assay technique, and direct sequencing was performed in 30 cases which were selected from the patients and controls by random sampling. Results In oral neoplasms cases, haplotype combinations were T-G 43.2%, C-T 56.8%, and frequencies of genotype were T-G/T-G 15.8% , C-T/T-G 54.7% , C-T/C-T 29.5% , while in controls they were T-G 30. 9% ,C-T 69. 1% and T-G/T-G 10. 5% , C-T/T-G 41.0% , C-T/C-T 48. 5%. There was a significant difference in the allelic frequency and the genotypical distridutions between the oral neoplasm patients and the controls. The individuals with the T-G allele had a slight increasing neoplasm risk than individuals with C-T allele; the OR for T-G versus C-T was 1.69 （95% CI, 1.12-2. 51 ）. The risk of suffering from oral neoplasms was higher in the individuals of T-G/T-G genotype and of T-G/C-T genotype than in individuals of C-T/CT genotype with odds ratio of 2.48 versus 2. 20. Conclusions There are two polymorphic points in the 7th intron of human p53 gene, which could be associated with genetic susceptibility of oral neoplasms. T-G allele may be the risk factor of oral neoplasms.

关 键 词：口腔肿瘤 基因 p53 疾病遗传易感性 肿瘤遗传易感性 基因内含子 位点多态性 P53 聚合酶链反应-限制性片段长度多态性 等位基因频率 健康对照组 

分 类 号：R739.8[医药卫生—肿瘤]