线粒体基因D环区在乳腺癌的高频突变率和高度多态性  

High frequency of somatic mutations and polymorphisms in D-loop region of mitochondrial genome of breast cancer

作　　者：谭端军[1] 刘玲玲[1] 文毅[1] 王士雯[1] 白仁奎 LeeJun C Wong 

机构地区：[1]解放军总医院老年心血管病研究所,北京100853 [2]Department of Oncology

出　　处：《肿瘤》2004年第3期245-247,285,共4页Tumor

基　　金：美国国立卫生研究院(NIH)基金(CA873 2 7)部分资助

摘　　要：目的　探讨乳腺癌的线粒体基因D环区的体细胞性突变和多态性变异特征。方法　PCR扩增和测序检查乳腺癌组织和相应的正常组织的线粒体基因D环全序列 ,并与基因文库和线粒体文库记录的剑桥序列进行对比分析。结果　在 73例肿瘤中共发现 2 70个种系性变异 ,2 8例 ( 38.3% )肿瘤发现体细胞性突变共 4 4例次 ,其中 2 2 .7%位于第一高变区 ,6 5 .9%位于第二高变区 ,保留序列区II的 30 3～ 30 9位点是突变高发热点。Objective To investigate the features of somatic mutations and polymorphisms of mitochondrial D loop regions in breast cancer. Methods The D loop of mitochondrial genome in tumor samples and paired normal tissues from breast cancers were amplified by PCR and sequenced. The sequences were compared with the Cambridge sequence reported in GenBank and Mitomap. Results Two hundred and seventy germline variations were found in total 73 tumors. Twenty eight tumors (38.30%) presented somatic mtDNA mutations with a total of 44 mutations. Among them, 10 (22.7%) and 29 (65.9%) were located in hypervariable segment 1 and 2 respectively. Np303 309 of conserved sequence block II was a mutation hot spot. Conclusion Mitochondrial DNA D loop is an unstable region with high frequency of somatic mutation and high polymorphism.

关 键 词：线粒体基因D环区 乳腺癌 基因变异 基因多态性 PCR扩增 氧自由基 

分 类 号：R737.9[医药卫生—肿瘤]