MUS81基因在喉癌中的突变和表达  

The mutation and expression of MUS81 gene in laryngeal squamous cell carcinoma

作　　者：李婵媛[1] 王淑云[1] 袁海明[1] 李巍[1] 李子政[1] 李晓渝[2] 郭星[2] 李福才[1] 

机构地区：[1]中国医科大学基础医学院医学遗传学教研室,沈阳110001 [2]中国医科大学附属第一临床学院耳鼻喉科

出　　处：《中华医学遗传学杂志》2008年第5期560-565,共6页Chinese Journal of Medical Genetics

基　　金：辽宁省自然科学基金（2001101039）

摘　　要：目的探讨MUS81基因突变和表达与喉癌发生发展的相关性。方法应用聚合酶链反应-单链构象多态性分析技术结合DNA测序检测分析了42例喉癌患者MUS81基因第9、10外显子的突变；应用半定量逆转录-PCR和Western印迹方法分析MUS81基因在喉癌组织中的表达情况。结果42例喉癌、癌旁组织标本中，癌旁正常组织均无突变，喉癌组织标本中19例发生突变，占45．2％（19／42），11例喉癌组织第9外显子发现有突变，占26．2％（11／42），8例喉癌组织第10外显子有突变，占19％（8／42），分析表明具有统计学意义（P〈0．01）。逆转录．PCR结果表明，42例喉癌中有17例MUS81基因mRNA低表达，占40．48％（17／42）。Western印迹方法分析结果表明，42例喉癌中有17例MUS81蛋白质低表达，占40．48％（17／42），经统计学分析肿瘤组与对照组差异有统计学意义（P〈0．01）。分析表明MUS81基因突变与mRNA和蛋白质低表达有显著相关性（P〈0．01）。统计结果显示喉癌MUS81基因突变与TNM分期、年龄和淋巴结转移无相关性（P〉0．05）。MUS81基因低表达与TNM分期、年龄和淋巴结转移无相关性（P〉0．05）。结论发现MUS81基因在喉癌组织中有突变发生及表达异常，提示MUS81基因突变和表达异常可能是喉癌发生及发展的重要因素之一。Objective To investigate the association of mutations and expression ofMUS81 gene with the tumorigenesis and progression of laryngeal squamous cell carcinoma （LSCC）. Methods PCR-SSCP and DNA sequencing were carried out to examine mutations at exous 9 and 10 of MUSS1 gene in 42 LSCC samples, with paired adjacent normal laryngeal tissues （PANIc） as control. Semi-quantitative RT-PCR and Western blot were used to detect the expression of MUS81 gene in the specimens. Results No mutation was detected in the control group. Among the 42 LSCC speeimeus, nineteen （45.2%） were found to harbor mutations, including 11 （26.2%） occurring within exon 9, and 8 （ 19% ） within exon 10. Seventeen （40.48% ） samples showed lower mRNA level of the MUS81 gene （ P 〈 0.01）, and same proportion of samples had lower protein level （ P 〈 0.01 ）, suggesting that MUS81 gene was similarly down-regulated at both mRNA and protein levels in the KSCC samples. Furthermore, mutations of MUSS1 gene did not signitlcanfly correlate with TNM stages, age and lymphoid node metastasis （ P 〉 0.05 ）. Nor did the expression of MUSS1 gene with the TNM stages, age and lymphoid node metastasis in LSCC （ P 〉 0.05 ）. Conclusion Mutations and abnormal expression of MUSS1 gene in the LSCC tissues were observed, which suggested that abnormalities of MUSS1 gene may play an important role in the tumorigenesis of LSCC.

关 键 词：喉鳞状细胞癌 MUS81基因 聚合酶链反应-单链构象多态性 

分 类 号：R686[医药卫生—骨科学]