江苏大学学报（医学版）2017，Vol.27Issue(1)：31-35,5.DOI:10.13312/j.issn.1671-7783.y160264
甲状腺乳头状癌线粒体DNA D环区基因突变的临床意义
Significance of mitochondrial DNA D-loop region gene mutation in human papillary thyroid carcinoma
摘要
Abstract
Objective:To detect the mutations and microsatellite instability (mtMSI )in mitochondrial DNA(mtDNA)Dloop region in human papillary thyroid carcinoma and to analyze their relationship with the clinicopathological parameters.Methods:A total of 96 cases of paraffin embedded human papillary thy-roid carcinoma were analyzed in the study.After extracting DNA,the mtDNA D-loop region was amplified by polymerase chain reaction(PCR),the sequences of PCR products were detected by the pros-and cons-directed sequencing methods.The sequencing results were compared with the revised Cambridge reference sequence(rCRS)and the relevant database.The correlation between mtDNA mutation and clinical patholog-ical parameters was analyzed.Results:Vast majority of mtDNA D-Loop region sequences in paraffin em-bedded papillary thyroid carcinoma were successfully amplified using the nested PCR,the amplification suc-cess rate was 94.8%(91/96);255 mutations in 35 mutation sites were detected in 87 patients(90.6%) and microsatellite instability(mtMSI)was detected in D310 and D514 region;there was no significant difference in the number of mutations between patients with different ages,sex,tumor size and TNM staging (P>0.05).Conclusion:There is high frequency of mutations in the mtDNA D-loop in human papillary thyroid carcinoma,which might play an important role in the pathogenesis of papillary thyroid carcinoma.关键词
甲状腺乳头状癌/线粒体DNA/D环区/突变Key words
papillarythyroidcarcinoma/mitochondrialDNA/D-Loopregion/mutation分类
医药卫生引用本文复制引用
Muhammad Asad Iqbal,刘嫣方,林江,薛娣,钱炜..甲状腺乳头状癌线粒体DNA D环区基因突变的临床意义[J].江苏大学学报（医学版）,2017,27(1):31-35,5.基金项目
江苏省六大人才高峰项目(2011-WSN021D) （2011-WSN021D）
江苏省医学科研招标立项课题(H201353) （H201353）
镇江市社会发展项目(SH2012042) （SH2012042）
