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甲状腺乳头状癌中 DNA修复基因 hMLH1的甲基化与BRAF突变的关系
引用本文:宝荣,邵华,成建新,王佾.甲状腺乳头状癌中 DNA修复基因 hMLH1的甲基化与BRAF突变的关系[J].重庆医学,2010,39(5).
作者姓名:宝荣  邵华  成建新  王佾
作者单位:重庆市第九人民医院病理科,400700;中国医科大学附属盛京医院普外三科,沈阳,110004;山东省滨州市人民医院病理科,256610
摘    要:目的研究甲状腺乳头状癌(PTC)中DNA修复基因hMLH1的甲基化状况,分析其与PTC的T1799ABRAF基因突变的关系。方法应用甲基化特异性PCR(MSP)对60例PTC和20例癌对侧甲状腺正常组织进行hMLH1的甲基化检测。直接测序法检测上述标本中T1799ABRAF突变。结果60例PTC中,hMLH1甲基化的发生率为23%(14/60),T1799ABRAF突变率为65%(39/60)。在正常甲状腺组织中,没有检测到hMLH1的甲基化或突变。基因的甲基化或突变与临床病理特征没有显著关联。携带T1799ABRAF突变的PTC较携带野生型BRAF基因的PTC更容易发生DNA修复基因的甲基化〔13/39(33%)vs1/21(5%),P=0.022〕。结论PTC中DNA修复基因hMLH1的甲基化较T1799ABRAF突变少见;甲基化与T1799ABRAF突变有关联。

关 键 词:甲基化  hMLH1基因  BRAF突变  甲状腺癌

Hypermethylation of DNA repair genes hMLH1 in papillary thyroid cancer and its association with BRAF mutation
BAO Rong,SHAO Hua,CHENG Jian-xin,et al..Hypermethylation of DNA repair genes hMLH1 in papillary thyroid cancer and its association with BRAF mutation[J].Chongqing Medical Journal,2010,39(5).
Authors:BAO Rong  SHAO Hua  CHENG Jian-xin  
Institution:1.Department of Pathology;No.9 People's Hospital of Chongqing;Chongqing 400700;China;2.Third Department of General Surgery;Shengjing Hospital Affiliated to China Medical University;Shenyang;Liaoning 110004;3.Department of Pathology;People's Hospital of Binzhou City;Binzhou;Shandong 256610;China
Abstract:Objective To investigate the aberrant hypermethylation of DNA repair genes hMLH1 in papillary thyroid cancer (PTC),and to analyze its association with T1799A BRAF gene mutation.Methods Promoter methylation status of DNA repair genes hMLH1 in 60 PTCs and 20 normal thyroid tissues was examined using methylation-specific PCR (MSP).The T1799A BRAF was determined by direct sequencing.Results Among the 60 PTC tumors examined,the hMLH1 gene was hypermethylated in 23% (n=14) samples.The T1799A BRAF mutation was fou...
Keywords:methylation  hMLH1 gene  BRAF mutation  thyroid cancer  
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