线粒体基因组D环区基因突变与结节性甲状腺肿瘤的相关性研究  

The relationship beUveen mitochondrial D-loop gene mutation and nodular thyroid tumor

作　　者：范希景 傅媛 方莉萍[1] 项曦[1] 王金华[1] 浮苗[1] Fan Hejing

机构地区：[1]浙江省金华市中心医院,321000

出　　处：《浙江临床医学》2020年第3期325-327,共3页Zhejiang Clinical Medical Journal

基　　金：浙江省金华市科学技术局公益类项目(2017-4-005)。

摘　　要：目的探讨线粒体DNA(mtDNA)D环(D-loop)区基因突变与结节性甲状腺肿瘤的相关性.方法提取74例结节性甲状腺肿瘤患者的肿瘤组织、正常组织及外周血细胞的总DNA,PCR扩增mtDNAD-loop区,测序后与线粒体文库中的剑桥序列比对,分析突变类型.结果74例结节性甲状腺肿瘤患者中检测到107个多态性位点;13例检出mtDNAD-loop区点突变,突变率为17.57%(13/74),主要集中在两个高变区(HVR-I和HVR-II),其中HVR-II区占53.85%.结论mtDNAD环区尤其是HVR-II是结节性甲状腺肿瘤的突变热点,其突变可能引起mtDNA复制速率的改变.Objective Analysis of mitochondrial DNA munitions in D-loop region in in thyroid nodule.Methods The D-loop of mitochondrial DNA in 74 nodular thyroid neoplasm samples,paired normal tissues and peripheral blood samples were amplified by PCR and sequenced.The sequences were compared with the Cambridge sequence reported in Mitomap to analyze the mutation types.Results 107 polymorphism changes were discovered in 74 tumors.13 of 74(17.57%)nodular thyroid neoplasm harbored mutations,and point mutations were detected in 13 samples.The mutant sites were located in two hypervariable regions(HVR-I and HVR-II),and the HVR-II region accounted for 53.85%.Conclusion The mtDNA D-loop region,especially HVR-II,is the niutatioriril hotspot of nodular thyroid neoplasm,which may be closely related with mtDNA duplicating rate.

关 键 词：结节性甲状腺肿瘤 线粒体DNA D环区 突变 多态性 

分 类 号：R73[医药卫生—肿瘤]