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.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
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）
