HLA等免疫相关基因及MTHFR在新疆哈萨克族食管癌中的筛检效果评价  

Value of detection of HLA,other immune-related genes and MTHFR in the screening of esophageal cancer in Xinjiang Kazakh population

作　　者：蔡金凤[1] 秦江梅[1] 廖佩花[2] 曾同霞[1] 刘翔[1] 李锋[1] 

机构地区：[1]新疆地方病与民族高发病省部共建重点实验室石河子大学医学院预防医学系,新疆维吾尔自治区石河子市832002 [2]新疆维吾尔自治区疾病预防控制中心,新疆维吾尔自治区乌鲁木齐市830000

出　　处：《世界华人消化杂志》2011年第24期2572-2576,共5页World Chinese Journal of Digestology

基　　金：国家自然科学基金资助项目;No.30660161;国家重点基础研究发展规划基金资助项目(973计划);No.2005CCA03700;2006年教育部科学技术研究重点基金资助项目;No.206167;国家973计划前期研究专项基金资助项目;No.2007CB516804~~

摘　　要：目的:评价免疫相关基因HLA-DRB1*0901、TAP2379、TAP1637及叶酸代谢基因MTHFRC677T作为新疆哈萨克族(简称哈族)食管癌人群筛检指标的作用和意义.方法:以胃镜+组织病理学检查为金标准,确定哈族食管癌125例,对照250例;采用PCR或PCR-RFLP技术对所有样本检测HLA-DRB1*0901,TAP2379、TAP1637及MTHFRC677T的基因型及基因频率,利用筛检实验的评价方法评价上述指标的真实性及可靠性.结果:HLA-DRB1*0901、TAP2379、TAP1637及MTHFRC677T单独检测哈族食管癌的灵敏度分别为:24.0%,44.8%,58.4%,74.4%,特异度分别为:90.8%,77.2%,61.6%,45.6%;对这4个基因检测结果进行不同的组合后评价其真实性,结果显示,这4个基因联合检测的并联试验的灵敏度最高,达91.2%;MTHFRC677T及TAP1637联合检测的并联试验,灵敏度为88.0%.结论:MTHFRC677T可作为新疆哈族食管癌的筛检指标;也可采用MTHFRC677T和TAP1637联合检测,能提高灵敏度13.6%.AIM：To evaluate the significance of detection ofHLA-DRB10901,TAP2379,TAP1637 and MTHFRC677T in the screening of esophageal cancer（EC） in Xinjiang Kazakh population.METHODS：Blood samples were collected from 125 Kazakh patients with EC and 250 normal controls and used to detect HLA-DRB10901,TAP2379,TAP1637 and MTHFRC677T genetic polymorphisms by PCR or PCR-RFLP.The validity and reliability of testing results for HLA-DRB10901,TAP2379,TAP1637 and MTHFRC677T were evaluated by epidemiological method.RESULTS：The sensitivity of detection of HLADRB10901,TAP2379,TAP1637 and MTHFRC677T alone in the screening of EC was 24.0%,44.8%,58.4% and 74.4%,respectively,and the corresponding specificity was 90.8%,77.2%,61.6% and 45.6%.Combined detection of HLA-DRB10901,TAP2379,TAP1637 and MTHFRC677T had the highest sensitivity（91.2%）.Combined detection of MTHFRC677T and TAP1637 had a sensitivity of 88.0%.CONCLUSION：MTHFRC677T can be used as a parameter for screening of EC in Xinjiang Kazakh population.Combined detection of MTHFRC677T and TAP1637 can increase the sensitivity as compared to detection of either of them alone.

关 键 词：食管癌 哈萨克族 筛检 免疫相关基因 亚甲基四氢叶酸还原酶 

分 类 号：R392.12[医药卫生—免疫学]