p53基因第7内含子多态性与非小细胞肺癌及其组织p53基因突变的关系  

Study on the relationship between the polymorphism of p53 gene intron 7 and non-small cell lung cancer （NSCLC） and p53 mutation in NSCLC tissues

作　　者：顾其华[1] 陈琼[1] 胡成平[1] 李叶青[2] 杨红忠[1] 

机构地区：[1]中南大学湘雅医院呼吸内科,长沙410008 [2]湖南省怀化市第一人民医院分子生物实验室

出　　处：《中华医学遗传学杂志》2007年第3期319-321,共3页Chinese Journal of Medical Genetics

基　　金：湖南省自然科学基金（04JJ6025）

摘　　要：目的研究p53基因第7内含子多态性与非小细胞肺癌（non-small cell lung cancer,NSCLC）及其组织p53基因突变的关系。方法采用病例对照方法选择105例NSCLC患者和100名对照,以聚合酶链反应和ApaⅠ酶切鉴定p53基因第7内含子基因型。然后收集64例NSCLC活检标本及40例NSCLC石蜡包埋组织,鉴定基因型后测序检测第5～8外显子突变。结果在NSCLC中p53基因第7内含子ApaⅠ^＋/＋占23.8%,ApaⅠ^-/-占12.4%,ApaⅠ^＋/-占63.8%;在对照组中ApaⅠ^＋/＋、ApaⅠ^-/-和ApaⅠ^＋/-分别为44.0%、11.0%和45.0%。两组间基因型构成比差异有统计学意义（P〈0.01）。序列分析显示基因型ApaⅠ^＋/＋、ApaⅠ^-/-和ApaⅠ^＋/-的NSCLC组织p53基因第5～8外显子突变率分别为20.0%、50.0%和52.9%,不同基因型之间的突变率差异有统计学意义（P〈0.05）。结论p53基因第7内含子多态性与NSCLC有关。Objective To investigate the relationship between/953 gene intron 7 polymorphism and non-small cell lung cancer （NSCLC）. Methods One hundred and five patients with NSCLC and 100 controls were selected with case-control analysis. Polymerase chain reaction （PCR）, Apa Ⅰ restriction enzyme digestion and agarose gel electrophoretic separation were used to identify genotypes of p53 intron 7 in peripheral blood. Then, NSCLC biopsy tissues （ n = 64） and NSCLC paraffin-embedded tissues （ n = 40） were selected for mutation analysis. PCR products of p53 exons 5-8 were sequenced on an automated sequencer following the identification of intron 7 genotypes as previously described. Results In NSCLCpatients, the homozygote positive for ApaⅠ siteinp53 intron 7 was23.8%, thehomozygore negative was 12.34%, and the heterozygote was 63.8%. Whereas in control group, the homozygote positive, the homozygote negative and the heterozygote were 44.0%, 11.0% and 45.0%, respectively （ P 〈 0.01 ）. In the second part, mutation rate of p53 exons 5-8 was 20.0%, 50.0% and 52.9% in samples with Apa Ⅰ positive, negative and heterozygotes, respectively （ P 〈 0.05）. Conclusion p53 intron 7 Apa Ⅰ polymorphism may be associated with human NSCLC.

关 键 词：肺肿瘤 P53基因 内含子 基因多态性 基因突变 

分 类 号：R686[医药卫生—骨科学]