人食管癌组织中DNA聚合酶β基因突变的研究

被引：39

作者：

董子明

赵国强

赵勤

杨洪艳

薛乐勋

谭晓辉

郑乃刚

机构：

[1] 郑州大学基础医学院,郑州大学基础医学院,郑州大学基础医学院,郑州大学基础医学院,郑州大学医学中心实验室,郑州大学基础医学院,郑州大学基础医学院,,,,,

来源：

中华医学杂志 | 2002年 / 13期

关键词：

DNA聚合酶β; 食管癌; 基因突变; 序列分析;

D O I：

暂无

中图分类号：

R735.1 [食管肿瘤];

学科分类号：

100214 ;

摘要：

目的　研究人食管癌组织中DNA聚合酶 β(POLB)基因的突变情况。方法　利用逆转录聚合酶链反应 (RT PCR)、单链构象多态性 (SSCP)和序列分析对 30例人食管癌标本组织中DNA聚合酶 β基因进行了检测。利用DNASIS、OMIGA等软件分析测序数据。结果　手术切除浸润癌组 30例食管癌标本中有 13例POLB发生变异 ,突变率为 4 3.3% (13/ 30 ) ;而癌旁对照 2 9例正常 ,仅 1例异常。早期原位癌组 14标本中有 5例POLB发生变异 ,突变率为 35 .7% (5 / 14 ) ;另外 ,在 1例食管鳞状上皮增生中也发现有POLB变异发生。在 7例癌组织中存在相同 5 8bp(177位到 2 34位 )的基因片段缺失 ;共有 8种点突变形式 :(1) 375位A→G(Ile→Val) ,(2 ) 4 5 4位T→C(Phe→Ser) ,(3) 4 6 2位G→T(Glu→终止码 ) ,(4) 4 6 6位G→A(Gly→Glu) ,(5 ) 6 13位A→T(Lys→Ile) ,(6 ) 6 4 8位G→C(Gly→Arg) ,(7) 6 6 0位A→G(Arg→Gly) (8) 6 70位A→G(Glu→Gly)。结论　本研究首次在食管癌中发现POLB基因突变 ;该酶基因突变可能与食管癌的发生、发展相关

引用

页码：38 / 41

页数：4

共 10 条

[1]

ERCC2: cDNA cloning and molecular characterization of a human nucleotide excision repair gene with high homology to yeast RAD3. Weber CA,Salazar EP,Stewart SA,et al. EMBO Journal . 1990

[2]

Genetic alterations on chromosomes 3 and 9 of esophageal cancer tissues from China. Wang L,Li W,Wang X,et al. Oncegene . 1996

[3]

Structure of repaired sites in human DNA synthesized in the presence of inhibitors of DNA polymerases alpha and beta in human fibroblasts. Cleaver JE. Biochimica et Biophysica Acta . 1983

[4]

Sequence of human DNA polymerase beta mRNA obtained through cDNA cloning. SenGupta DN,Zmudzka BZ,Kumar P,et al. Biochemical and Biophysical Research Communications . 1986

[5]

The roles of DNA polymerases alpha, beta,and gamma in DNA repair synthesis induced in hamster and human cells by different DNA damaging agents. Miller MR,Chinault DN. Journal of Biological Chemistry . 1982

[6]

Mutations of O6-methylguanine-DNA methyltransferase gene in esophageal cancer tissues from Northern China. Wang L,Zhu D,Zhang C,et al. International Journal of Cancer . 1997

[7]

DNA polymerase beta gene mutation in human prostate cancer. Dobashi Y,Shuin T,Tsuruga H,et al. Cancer Research . 1994

[8]

DNA polymerase beta mutations in human colorectal cancer. Wang L,Patel U,Ghosh L,et al. Cancer Research . 1992

[9]

Human beta-polymerase gene.Structure of the 5’-flanking region and active promoter. Widen SG,Kedar P,Wilson SH. Journal of Biological Chemistry . 1988

[10]

Mutation analysis of 8p genes POLB and PPP2CB in bladder cancer. Eydmann ME,Knowles MA. Cancer Genetics and Cytogenetics . 1997

← 1 →