散发性大肠癌中hMSH2基因突变研究

目的：探讨错配修复基因hMSH2在散发性大肠癌发生中的作用。方法：应用酚／氯仿法提取44例结直肠癌组织及其相应正常黏膜组织的DNA,用聚合酶链反应和单链构象多态性分析（SSCP）、DNA测序等方法对基因hMSH2外显子5、6、13、15进行突变情况检测,并结合临床病理资料进行分析。结果：44例散发性大肠癌患者中,2例发生hMSH2基因突变,突变率为4．54％。不同临床病理分期的hMSH2基因突变率差异无统计学意义（P〉0．05）。结论：hMSH2基因可能在散发性大肠癌发生过程中起到一定作用,hMSH2基因突变与散发性大肠癌的临床病理分期无关。

STUDY ON hMSH2 GENE MUTATION IN THE CARCINOGENESIS OF SPORADIC COLORECTAL CARCINOMA

Objective：To investigate the role of mutated mismatch repair gene hMSH2 in the carcinogenesis of sporadic colorectal carcinoma. Methods： DNA was extracted by phenol-chloroform method from tumor and normal mucosal tissues in 44 patients with colorectal cancer. The mutations of the fifth, sixth, thirteenth,fifteenth exon of the hMSH2 were analyzed using polymerase chain reaction （PCR）, single strand conformation polymorphism （SSCP） analysis, and DNA sequencing methods were analyzed incorporating clinical parameters. Results： Two of 44 patients with sporadic colorectal cancer have mutated, the mutation of hMSH2 was 4.54%. There were no statistically significant differences among hMSH2 mutation rate in patho-staging of tumour tissue（ P 〉0.05）. Conclusion：hMSH2 gene may have certain effect in the development of sporadic colorectal cancer,but the mutations of hMSH2 can not indicate differentiations and pathostaging of sporadic colorectal carcinoma.