Polymorphic insertion of additional repeat within an area of direct 8 bp tandem repeats in the 5'-untranslated region of the p53R2 gene and cancer risk.
Polymorphic insertion of additional repeat within an area of direct 8 bp tandem repeats in the 5'-untranslated region of the p53R2 gene and cancer risk.
复制标题
p53R2 基因 5-非翻译区直接 8 bp 串联重复区域内额外重复序列的多态性插入与癌症风险。
作者：
J. Smeds;R. Kumar;K. Hemminki
p53R2是最近克隆的基因，在p53诱导的DNA修复中起作用。在p53R2基因的5'-未翻译区有两个直接串联的8bp重复序列。在这些8bp的直接重复序列区域内，我们检测到插入了一个额外的重复序列。为了确定这种新的多态性与任何癌症或人群的可能关联，我们对843名欧洲和亚洲的对照和各种癌症类型的患者进行了基因分型。此外，研究还包括26种癌细胞系。尽管黑色素瘤患者的等位基因频率低于对照组，但任何一种癌症类型的多态性频率均无显著差异(chi(2) = 3.28；P = 0.07；Or = 0.32；95% ci 0.07-1.26)。与亚洲人相比，高加索人的多态性频率明显更高(chi(2) = 9.19；P = 0.002；或= 3.13；95% ci 1.39-7.43)。在一个肿瘤细胞系中，我们观察到两个额外插入的8bp重复拷贝。插入多态性对p53R2基因转录的功能影响尚不明确。
p53R2 is a recently cloned gene that functions in p53-induced DNA repair. In the 5'-untranslated region of the p53R2 gene two direct tandem 8 bp repeats are located. Within the region of these 8 bp direct repeats we have detected the insertion of an additional repeat. In order to determine a possible association of this novel polymorphism with any cancer or population, we carried out genotyping of 843 European and Asian controls and patients with various cancer types. In addition, 26 cancer cell lines were included in the study. No significant difference in polymorphic frequency could be demonstrated for any of the cancer types, although the allelic frequency in melanoma patients was lower than in controls (chi(2) = 3.28; P = 0.07; OR = 0.32; 95% CI 0.07-1.26). A significantly higher frequency of the polymorphism was detected in the compiled Caucasian individuals compared with Asians (chi(2) = 9.19; P = 0.002; OR = 3.13; 95% CI 1.39-7.43). In one tumour cell line we observed two extra inserted copies of the 8 bp repeat. The functional effect of the insertion polymorphism on the p53R2 gene transcription remains to be determined.
影响因子：
56.9
作者：
NISHISHO, I;NAKAMURA, Y;VOGELSTEIN, B
通讯作者：
VOGELSTEIN, B
影响因子：
--
作者：
Canevari, Renata A.;Marchi, Fabio A.;Reis, Eduardo M.
通讯作者：
Reis, Eduardo M.
DOI：
10.1089/oli.1.2000.10.111
发表时间：
2000-04-01
期刊：
ANTISENSE & NUCLEIC ACID DRUG DEVELOPMENT
影响因子：
--
作者：
Chen, SY;Zhou, BS;Yen, Y
通讯作者：
Yen, Y