雄激素受体基因第一外显子CAG重复序列长度多态性与肺癌的关系  

CAG repeat length polymorphism at the androgen receptor gene exon 1 is associated with of lung cancer

作　　者：刘贵秋[1] 李刚[1] 巩丽[1] 张伟[1] 冯英明[1] 苏勤[1] 

机构地区：[1]第四军医大学唐都医院,陕西西安710038

出　　处：《现代肿瘤医学》2006年第8期926-930,共5页Journal of Modern Oncology

基　　金：国家自然科学基金(No.30171052和No.30572125);陕西省卫生科研基金项目(02D02)

摘　　要：目的：探讨人雄激素受体（AR）基因第一外显子CAG串联短重复序列（STR）多态性与肺癌发生之间的关系。方法：共收集170例肺癌患者和248例参照个体的静脉血，提取基因组DNA，巢式PCR扩增AR基因，变性聚丙烯酰胺凝胶电泳，银染显示DNA链片段长度，根据标本的泳动度推算CAG STR的n值；选取代表性标本直接测序，验证上述检测的准确性。结果：52例男性肺癌及94例男性参照标本的CAG STR n值范围分别为14-29和14-30，均数分别为19．96±2．69和21．06±3．39，二者差别显著（P〈0．05）；男性肺癌患者组中〈55岁组和≥55岁组CAG STR n值分别为15-23和14-29，均数分别为18．85±2．28和20．63±2．71，二者差别显著（P〈0．05）。118例女性肺癌及154例参照标本上带的CAG STR n值范围分别为9-28和16-3l，均数分别为21．80±3．10和23．26±2．93，二者差别显著（P〈0．05）；下带的n值范围分别为9-24和14-27，均数分别为19．8±2．51和20．74±2．91，二者差别显著（P〈0．05）；女性肺癌患者组中〈55岁和≥55岁两组之间在CAG STR长度上无显著差别（P〉0．05）。结论：AR基因第一外显子CAG STR与肺癌的发生和／或发展有关，CAG STR较短的男性和女性个体患肺癌的危险性都增加；男性人群中，CAG STR较短可使肺癌的发生年龄提前。Objective：To investigate the relationship between the polymorphic CAG short-tandem repeat （STR） at the androgen receptor （AR） gene exon 1 and lung cancer. Methods： Genomic DNA was extracted from the mono-nuclear blood cells from 170 patients with lung cancer and 248 reference individuals, and was amplified via PCR. The products were resolved by electrophoresis on denaturing polyacrylamide gels and visualized through silver staining, the CAG repeat numbers were assessed by the mobility of their products and sequencing for representative sampies. Results： The CAG repeat numbers for the 52 male patients with lung cancer and for the 94 male references were 14 to 29 （19.96±2.69） and 14 to 30 （21.06±3.39）, respectively, with the former significantly lower than the latter. The numbers for the male patients below 55 years and for those up to 55 years ranged from 15 to 23 （ 18. 85 ±2.28 ） and from 14 to 29 （20.63±2.71 ）, respectively, with the former significantly lower than the latter. The CAG repeat numbers of the longer alleles for the 118 female patients with lung cancer and for the 154 references were 9 to 28 （21.80±3.10） and 16 to 31 （23.26±2.93）, respectively, with former significantly lower than the latter. Those for the shorter alleles were 9 to 24 （ 19.80±2.51 ） and 14 to 27 （20.74±2.91 ）, respectively, with the significant difference. There was no significant difference in CAG repeat numbers between the female patients below 55 years and those up to 55 years. Conclusion： CAG STR at AR gene exon 1 is associated to development and/or progression of lung carcinoma. A shorter CAG STR at the locus may predispose the individuals of both sexes a higher risk to develop lung cancer. The male individuals with a shorter CAG STR tend to develop lung cancer earlier.

关 键 词：雄激素受体基因 CAG重复序列 基因多态性 易感性 肺癌 

分 类 号：R734.2[医药卫生—肿瘤]