宫颈癌基因组HLA-Ⅰ类基因微卫星不稳定和杂合性缺失的研究  

Microsatellite instability and loss of heterozygosity of human leucocyte antigen class Ⅰ gene in cervical carcinoma

作　　者：荣媛[1] 吴绪峰[2] 陈冠民[3] 赵旻[1] 伍欣星[1] 

机构地区：[1]武汉大学医学院病毒学研究所分子生物学研究室,430071 [2]武汉大学医学院中南医院妇瘤科,430071 [3]武汉大学医学院中南医院公共卫生管理学院统计学教研室,430071

出　　处：《中华医学遗传学杂志》2004年第4期342-346,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金 (30 1 71 0 4 2 )~~

摘　　要：目的　探讨人白细胞抗原 Ⅰ类基因在宫颈癌中微卫星不稳定和杂合性缺失的情况 ,并构建宫颈癌基因组在该区域的精细缺失图谱。方法　应用聚合酶链反应 单链长度多态性 银染技术 ,对 3 0例宫颈癌活检标本进行杂合性缺失和微卫星不稳定的检测。结果　在 3 0例宫颈癌活检组织中 ,有 2 3例( 76.7% )存在有 1个或多个位点的杂合性缺失 ,微卫星位点C3 2 11的杂合性缺失频率最高 ,可达5 0 % ( 15 /3 0 )。微卫星不稳定的发生率为 66.7% ( 2 0 /3 0 ) ,其中位点D6S2 5 8发生微卫星不稳定频率最高 ,达 40 % ( 12 /3 0 )。结论　人白细胞抗原 Ⅰ类基因的微卫星不稳定和杂合性缺失在宫颈癌的发生和发展过程中起着重要作用 ,同时发现位点C12 5～C3 2 11之间是宫颈癌患者的一个最小的共同缺失区域 ,该区域可能存在有与宫颈癌相关的抑癌基因。Objective To investigate the frequency of microsatellite instability(MSI) and loss of heterozygosity(LOH) at human leucocyte antigen(HLA) class Ⅰ loci in cervical carcinoma and the detailed deletion mapping in this region. Methods LOH and MSI of HLA class Ⅰ genes were analyzed in 30 paired blood and tumor samples by PCR based single-stranded length polymorphism (PCR-SSLP). Results Of the 30 cases, 23(76.7%) showed LOH at one or more loci. Higher frequencies of LOH were found at four loci: C3211 (50%), C144 (37%), C125 (36.7 %), D6S276 (48.3%). MSI was found in 20 out of 30 cases (66.7 %). Conclusion The data suggest that the LOH and MSI of HLA class Ⅰ gene might participate in the carcinogenesis of cervical carcinoma. Meanwhile, the minimal deletion region might be defined between C125 and C3211, thus providing the evidence for cloning the tumor suppressor genes associated with cervical carcinoma.

关 键 词：宫颈癌 微卫星不稳定 杂合性缺失 癌基因 人白细胞抗原 HLA-Ⅰ 活检标本 微卫星位点 多态性 发现 

分 类 号：R737.33[医药卫生—肿瘤] R735[医药卫生—临床医学]