鼻咽癌中KLF6基因突变的检测  

Mutation Analysis of KLF6 Gene in Human Nasopharyngeal Carcinomas

作　　者：陈汉奎[1,2] 刘晓琼[1] 林洁 陈天渝 冯启胜[1] 曾益新[1] 

机构地区：[1]中山大学肿瘤防治中心研究所病理室 [2]广州医学院临床肿瘤中心实验室工作,广东广州510095 [3]国家人类基因组南方研究中心遗传部

出　　处：《癌症》2002年第10期1050-1050,共1页Chinese Journal of Cancer

基　　金：国家973项目分题(G1998051009);广东省科委联合攻关重点项目(980950)

摘　　要：背景与目的:鼻咽癌(nasopharyngealcarcinoma,NPC)高发于中国南方和东南亚地区,其发病是一个多因素、多步骤的过程,与遗传因素、EB病毒感染和环境因子有关,但分子机理仍不清楚。KLF6基因编码一种广泛表达的核转录因子,在某些前列腺癌肿瘤中发现有高频的等位基因的丢失和基因突变。本研究通过对KLF6基因在NPC肿瘤中的突变检测,探讨KLF6基因与NPC发病的关系。方法:采用PCR-直接测序分析方法,在19例散发性NPC组织细胞和3个NPC细胞系(CNE1,CNE2,SUNE1)中对KLF6编码区和拼接位点进行检测。结果:在3例散发性NPC肿瘤组织DNA中检测到KLF6基因的3个不同位置的错义改变,分别为GAG→GTG(Glu75Val)、AGC→AGG(Ser136Arg)和AGA→AAA(Arg243Lys),在50个随机正常个体(100条染色体)和3个NPC细胞系中没有发现这3个位点的碱基变异。结论:这3个变异可能是KLF6基因的新的突变位点,在某些NPC发病中可能有作用。Background & Objective: Nasopharyngeal carcinoma (NPC ) is one of the most common cancers in South China and Southeast Asia. The etiological factor is believed to be the interaction between genetic susceptibility, EBV infection and environmental factors, involved in the multi step process of carcinogenesis and development of NPC. However, the molecular pathology of NPC is unclear yet. Kruppel like factor 6(KLF6)is a ubiquitously expressed nuclear transcription factor, which is deleted and/or mutated with high frequency in a subset of prostate cancer. This study was designed to investigate KLF6 mutation in NPC tumors and NPC cell lines. Methods: Genomic DNAs from 19 NPC tumor biospies and 3 NPC cell lines were used in mutation detection of KLF6 coding region and splice sites by PCR sequencing. 100 chromosomes from 50 random healthy individuals were used as control. Results: In 3 of 19 NPC tissues, 3 different mutations(Glu75Val, Ser136Arg, Arg243 Lys) in KLF6 gene were found by PCR sequencing. None of the 3 mutations were detected in the 50 random healthy individuals. Conclusion: KLF6 gene may be involved in carcinogenesis of sporadic NPC.

关 键 词：基因突变 鼻咽肿瘤 KLF6基因 NPC PCR-直接测序分析方法 

分 类 号：R739.63[医药卫生—肿瘤]