乳腺肿瘤发生与线粒体DNA体细胞突变的初步探讨 | |
杨越1; 贺军栋2; 郭学君1; 车艳华1; 张勇1; 李立[*]1 | |
刊名 | 中华医学杂志 |
2011 | |
卷号 | 91期号:14页码:973-976 |
关键词 | 乳腺肿瘤 线粒体 基因组 体细胞突变 |
其他题名 | Correlation of breast tumor pathogenesis and somatic mutations on the basis of mitochondrial DNA whole genome |
通讯作者 | ynkmlili@yahoo.com.cn |
合作状况 | 其它 |
中文摘要 | 目的基于线粒体DNA(mtDNA)的全基因组信息研究体细胞突变与乳腺肿瘤发生的相关性. 方法对来自云南省昆明市第一人民医院乳腺科2009年8--12月收治的4例乳腺纤维腺瘤患者的肿瘤组织及外周血mtDNA全基因组序列进行聚合酶链反应(PCR)扩增及DNA测序, 比较其突变分布差异, 揭示可能存在的肿瘤组织特有的体细胞突变. 结果研究获得了患者肿瘤组织 mtDNA全基因组的突变图谱, 并构建了系统发育关系树, 结果揭示, 4例患者的mtDNA分别归属为单倍型类群D4i、G1、R9b及N9a. 通过在外周血mtDNA中检测肿瘤样本中发现的私有突变, 研究显示仅在单倍型类群归属为R9b的患者中存在16292位置的体细胞变异. 结论基于4例良性乳腺肿瘤患者的肿瘤组织的mtDNA全基因组信息, 仅发现1个mtDNA控制区体细胞变异, 未能发现存在于 mtDNA编码区中的可能具有功能性的体细胞突变 |
英文摘要 | Objective To investigate the correlation of somatic mutations in whole genome of mitochondrial DNA ( mtDNA ) in patients with breast tumor. Methods The DNA of tumor tissue and peripheral blood in 4 benign breast tumor patients from August 2009 to December 2009 in our hospital were extracted. The mtDNA whole genomes were amplified by polymerase chain reaction (PCR) and the mutations of products screened by sequencing to compare the difference of mutation distribution between tumor tissue and peripheral blood. The likelihood of somatic mutations in tumor tissue was determined. Results The mutation spectrum of mtDNA genomes was obtained by PGR and sequencing. Then a phylogenetic tree was constructed to identify their haplogroups (D4i, G1, R9b, N9a). Their private mutations in peripheral blood were detected and the somatic mutation at 16292 position was found in one patient ( haplogroups: R9b).Conclusion Based on the extensively study on the mtDNA genomes from the tumor issues of 4 patients, our current report observed only a single somatic variation from the control region, no any further mutations with potential function from the coding region were observed. |
收录类别 | CSCD |
语种 | 中文 |
公开日期 | 2012-09-14 |
内容类型 | 期刊论文 |
源URL | [http://159.226.149.42:8088/handle/152453/7097] |
专题 | 昆明动物研究所_分子进化基因组学 昆明动物研究所_遗传资源与进化国家重点实验室 |
作者单位 | 1.昆明市第一人民医院乳腺科昆明医学院附属甘美医院乳腺科,650011 2.中国科学院昆明动物研究所遗传资源与进化国家重点实验室,650223 |
推荐引用方式 GB/T 7714 | 杨越,贺军栋,郭学君,等. 乳腺肿瘤发生与线粒体DNA体细胞突变的初步探讨[J]. 中华医学杂志,2011,91(14):973-976. |
APA | 杨越,贺军栋,郭学君,车艳华,张勇,&李立[*].(2011).乳腺肿瘤发生与线粒体DNA体细胞突变的初步探讨.中华医学杂志,91(14),973-976. |
MLA | 杨越,et al."乳腺肿瘤发生与线粒体DNA体细胞突变的初步探讨".中华医学杂志 91.14(2011):973-976. |
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