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。
Objective To investigate whether DNA polymerase β (POLB) gene mutations occur in esophageal cancer. Methods Thirty specimens of esophageal squamous epithelial cancer were resected during operation. A piece of cancer tissue and a piece of juxtacancerous tissue were taken from each specimen. Fourteen specimens of preinvasive esophageal carcer were obtained by esophagoscopy. Reverse transcription polymerase chain reaction (RT PCR), single strand conformation polymorphism (SSCP) and sequence analysis were used to examine the DNA polymerase β genes. DNASIS and OMIGA softwares were used for sequencing. Results Obvious mutation was detected by SSCP in 13 of the 30 esophageal infiltrative cancer tissues (with a mutation rate of 43.3%) and in only 1 of the 30 juxtacancerous normal tissues from the preinvasive cancer group, obvious mutation was detected by SSCP in 5 of the 14 preinvasive esophageal cancer tissues (with the mutation rate of 35 7%). In addition, obvious mutation was also detected in one specimen of hyperplasia of squamous epithelium. Within 7 esophageal cancer specimens, 58 bp (177nt to 234nt) deleted mutation of POLB was found. There were 8 point mutation forms: (1) A→G at 375nt(Ile→Val),(2) T→C at 454nt(Phe→Ser),(3)G→T at 462nt(Glu→terminal code),(4)G→A at 466nt(Gly→Glu),(5)A→T at 613nt(Lys→Ile),(6)G→C at 648nt(Gly→Arg),(7)A→G at 660nt(Arg→Gly), and (8)A→G at 670nt(Glu→Gly). Conclusion DNA polymerase β gene mutations are discovered in human esophageal carcinoma for the first time. It may be related to the development of esophageal cancer, suggesting that POLB activity may be changed.
出处
《中华医学杂志》
CAS
CSCD
北大核心
2002年第13期899-902,共4页
National Medical Journal of China
基金
国家自然科学基金资助项目 (3 9870 2 87)
