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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
Objective To study the mutation of DNA polymerase β (POLB) gene in human esophageal cancer tissues. Methods The polymerase chain reaction (PCR), single strand conformation polymorphism (SSCP) and sequence analysis were used to detect the DNA polymerase β gene in 30 human esophageal cancer specimens. Sequencing data was analyzed using software such as DNASIS and OMIGA. Results Thirteen cases of esophageal cancer in 30 cases of invasive resection of invasive carcinoma had mutation of POLB, the mutation rate was 43.3% (13/30), while the adjacent control group 29 cases were normal and only 1 case was abnormal. Among 14 specimens of early carcinoma in situ, 5 cases of POLB mutation occurred, the mutation rate was 35.7% (5/14). In addition, POLB mutation was also found in 1 case of esophageal squamous cell hyperplasia. In the seven cancer tissues, the same 5 8 bp (177 to 234) of the gene fragments were deleted. There are 8 kinds of point mutations: (1) 375 → A → G (Ile → Val), (2) 454 (3) 4 6 2 G → T (Glu → stop codon), (4) 466 G → A (Gly → Glu), (5) 6 13 A (6) 6 4 8 G → C (Gly → Arg), (7) 6 6 0 A → G (Arg → Gly) (6) → Gly). Conclusions This study is the first to find POLB gene mutation in esophageal cancer. The gene mutation may be related to the occurrence and development of esophageal cancer