Tang Xian-bin, Hou Jun, Tan Yun-shan, Zhou Heng-hua, Liu Jia
Department of Pathology, Affiliated Taihe Hospital, Yunyang Medical College, Shiyan, Hubei, PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Feb;21(1):64-7.
To investigate the relationship between the single nucleotide polymorphisms(SNPs) in the redox domain of aprimidinic/apurinic endonuclease/redox factor-1(APEX) gene and the development of sporadic colorectal cancer.
One hundred and fifty cases of sporadic colorectal cancers and 143 peripheral blood samples from healthy population were screened for genetic polymorphisms or mutations in the redox domain by denaturing gradient gel electrophoresis followed by DNA sequencing.
There were two SNPs identified in the redox domain of APEX gene, namely, 453G to T and 1247A to G. The gene frequencies of 453T and 1247G were 1.3% and 5.7%, respectively, in patient group, while 1.05% and 4.55%, respectively, in healthy population. The genotype distribution at the two sites in healthy population was consistent with Hardy-Weinberg equilibrium. There was no difference in gene frequencies at the two sites between cancer patients and healthy population.
The polymorphisms in the redox domain of APEX gene are irrelevant to the development of sporadic colorectal cancer, but their distribution may vary greatly among tribes.
探讨脱嘌呤嘧啶核酸内切酶/氧化还原因子-1（APEX）基因氧化还原结构域的单核苷酸多态性（SNP）与散发性结直肠癌发生的关系。
采用变性梯度凝胶电泳结合DNA测序技术，对150例散发性结直肠癌患者和143例健康人群外周血样本进行氧化还原结构域的基因多态性或突变筛查。
在APEX基因氧化还原结构域中鉴定出两个SNP，即453G突变为T和1247A突变为G。453T和1247G的基因频率在患者组中分别为1.3%和5.7%，在健康人群中分别为1.05%和4.55%。健康人群中这两个位点的基因型分布符合Hardy-Weinberg平衡。癌症患者和健康人群在这两个位点的基因频率没有差异。
APEX基因氧化还原结构域的多态性与散发性结直肠癌的发生无关，但其分布在不同种族间可能存在很大差异。
