MUTYH基因与结直肠癌发病的关系  

Relationship between MUTYH gene and occurrence of colorectal cancer in family clan of familial adenomatous polyposis

作　　者：佟静[1] 王炳元[1] 

机构地区：[1]中国医科大学附属第一医院消化内科,辽宁省沈阳市110001

出　　处：《世界华人消化杂志》2008年第31期3576-3581,共6页World Chinese Journal of Digestology

摘　　要：目的:检测家族性腺瘤性息肉病(familial adenomatous polyposis,FAP)家族成员MUTYH基因SNP位点,为结直肠癌易感人群的筛检提供依据.方法:应用PCR-SSCP及基因测序方法检测三个疑似FAP家系患者MUTYH基因SNP位点,PCR-CTPP方法检测中国医科大学附属第一医院结直肠癌组患者283例与对照组307患者血液DNA中MUTYH IVS1-5A>CSNP突变位点的情况,分析其多态性与结直肠癌易感性的关系.结果:发现MUTYH基因3个SNP位点,分别为IVS1-5A>C(A/C);IVS6+35A>G(A/G,G/G)及c.G972C(Q335H)(G/C).结直肠癌患者中发生MUTYH IVS1-5A/C与MUTYH IVS1-5C/C突变的患者分别为11和2例,对照组中发生MUTYH IVS1-5A/C突变的患者为4例,但未发现MUTYH IVS1-5C/C纯合性突变.对照组中MUTYH IVS1-5A/C等位基因频率与结直肠癌组相比,有显著性差异(χ2=7.43,P=0.006).MUTYH IVS1-5A>C多态性与结直肠癌易感性有相关性.结论:MUTYH IVS1-5A>C位点基因多态性在结直肠癌发生中起着作用,其对了解结直肠癌的发病机制及对高危人群的筛检具有重大意义.AIM： To provide evidence for screening of colorectal cancer in susceptible population through detecting familial adenomatous polyposis （FAP） family clan MUTYH gene SNP site. METHODS： PCR-SSCP and gene sequencing were used to detect MUTYH gene SNP site in three doubtful FAP genealogy, and PCR-CTPP was used to detect MUTYH gene SNP mutational site in 283 coloreetal cancer patients and 307 control group patients in the affiliated first hospital of China Medical University. Relationship between the SNP site and colorectal cancer susceptivity was analyzed. RESULTS： Three SNP sites of MUTYH genes were found in three doubtful FAP genealogy, that is, IVS1-5 A〉C （A/C）, IVS6 ＋ 35 A〉G （A/G, G/G） and c.G972C （Q335H） （G/C）. Eleven patients were found to generate MUTYH IVS1-5 A/C mutation and 2 MUTYH IVS1-5 C/C muta- tion in colorectal cancer group. And 4 patients were found to have MUTYH IVS1-5 A/C mutation and no MUTYH WS1-5 C/C homozygosity mutation in control group. Significant difference in MUTYH WS1-5 A/C allele frequency was detected between colorectal cancer group and control group （χ^2 = 7.43, P = 0.006）. Polymorphism of MUTYH IVS1-5 A〉C was closely correlated to colorectal cancer susceptivity. CONCLUSION： MUTYH IVS1-5 A〉C site gene polymorphism plays important role in genesis of colorectal cancer, which is significant to etiopathogenesis of colorectal cancer and screening of high-risk group.

关 键 词：家族性腺瘤性息肉病 结直肠癌 MUTYH 基因 PCR-CTPP法 

分 类 号：R735.3[医药卫生—肿瘤]