摘要
目的:研究前列腺癌(Pca)及良性前列腺增生(BPH)组织中DNA聚合酶β基因(polβ)的突变情况.方法:采用RT-PCR、DNA序列分析技术对12例Pca及20例BPH组织中的polβ进行检测,并利用DNASIS、OMIGA等软件分析测序数据.结果:Pca组织中polβ突变率为4/12,BPH组织中polβ突变率为1/20.突变形式如下:①点突变:325位A→G转换(71位Glu→Gly),721位A→G转换(203位Glu→Gly),768位C-→T转换(219位Gln→终止码),801位A→G转换(230位Lys→Glu),853位A→G转换(247位Glu→Gly),1071位A→G转换(320位Phe→Leu),177.188位CT→AA(22位Leu→Asn).②58 bp片段缺失(181～238位),导致移码及提前终止.结论:Pca组织中polβ的突变以点突变A→G转换为主要突变形式.181～238位的58 bp的大片段缺失系国内外首次发现的突变形式.DNA polβ突变可能与Pca的发生、发展密切相关.
Aim: To detect the DNA polymerase β gene (polβ) mutation in prostate cancer and benign prostatic hyperplasia tissue. Methods: RT-PCR and DNA sequence analysis were used to detect the DNA polβ gene mutation in 10 cases of prostate cancer tissue and 20 cases of benign prostatic hyperplasia tissue. DNASIS and OMIGA softwares were used to analyze the DNA sequencing results. Results: DNA polβ gene mutation was observed in 4 cases (4/12) of prostate cancer tissue and 1 case(1/20) of benign prostatic hyperplasia tissue.The mutation types were as follows: Ⅰ:point mutation: 325 nt A→G transition(71 Glu→Gly);721 nt A→G transition(203 Glu→Gly);768 nt C→T transition(219 Gln→termination codon);801 nt A→G transition(230 Lys→Glu);853 nt A→G transition(247 Glu→Gly);1 071 nt A→G transition(320 Phe→Leu);177.178 nt CT→AA(22 Leu→Asn);Ⅱ:deletion of 58bp from 181 nt to 238 nt resulting in a frameshift and premature termination.Conclusion: DNA polβ gene A→G transition point mutation in human prostate cancer tissue was found dominately. In addition, A 58 bp deletion mutation from 181 nt to 238 nt of DNA polβ gene has been found for the first time. The results suggest that the mutation of DNA polβ gene may be involved in the pathogenesis and development of prostate cancer.
出处
《郑州大学学报（医学版）》
CAS
北大核心
2005年第4期611-613,共3页
Journal of Zhengzhou University(Medical Sciences)
基金
国家自然科学基金资助项目39870287
