云南乳腺肿瘤发生与线粒体DNA控制区体细胞突变的相关性

基础医学与临床 ›› 2010, Vol. 30 ›› Issue (12): 1299-1302.

云南乳腺肿瘤发生与线粒体DNA控制区体细胞突变的相关性

杨越¹,贺军栋²,郭学君³,车艳华¹,张勇³,孔庆鹏²,张亚平²,李立¹

1. 昆明市第一人民医院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3. 昆明市第一人民医院乳腺科

收稿日期:2010-05-18 修回日期:2010-06-23 出版日期:2010-12-05 发布日期:2010-12-05
通讯作者: 李立

Somatic mutations in the mitochondrial DNA control region and breast tumor pathogenesis in Yunnan Province

YANG Yue ¹,HE Jun-dong ²,GUO Xue-jun ¹,CHE Yan-hua ¹,ZHANG Yong ¹,KONG Qing-peng ², ZHANG Ya-ping ²,LI Li ¹

1. The First People’s Hospital of Kunming2. Kunming Institute of Zoology, Chinese Academy of Sciences

Received:2010-05-18 Revised:2010-06-23 Online:2010-12-05 Published:2010-12-05
Contact: LI Li

摘要/Abstract

摘要： 目的研究线粒体DNA（mtDNA）控制区（CR）中体细胞突变（SM）与云南乳腺肿瘤发生发展的相关性。方法对来自云南昆明的28例恶性乳腺肿瘤患者的肿瘤组织及外周血和13例良性乳腺肿瘤患者mtDNA控制区中的第一高变区（HVS-I）及第二高变区（HVS-II）区段进行PCR扩增及DNA测序，比较其突变分布差异。结果 28例恶性乳腺肿瘤患者mtDNA的控制区HVS-I、HVS-II共发现8个体细胞突变，突变频率为28.6%，包括309+CC（样本BC6）、309+C（样本BC20、样本BC26）、279Y（样本BC16）、297R（样本BC16）、214R（样本BC21）、190Y（样本BC61）和204Y（样本BC64）；而13例良性乳腺肿瘤患者中则发现2个体细胞突变，突变频率为15.4%，包括16292Y（样本BCA10）和309+CC（样本BCA12）。结论 mtDNA控制区的体细胞突变可能在云南乳腺肿瘤的发生发展中起重要作用。

关键词: 乳腺肿瘤, 线粒体DNA, 控制区, 体细胞突变

Abstract: Objective To investigate the somatic mutations in control region of MITOCHONDRIAL DNA (mtDNA) in patients with breast tumor in Yunnan Province. Methods The DNA of tumor tissue and peripheral blood in 28 breast cancer patients and 13 benign breast tumor patients were extracted and mtDNA D-loop HVR1 and HVR2 fragments were amplified with designed two pairs of primers by PCR. The mutations of products were screened by sequencing and compared the mutations between tumor tissue and peripheral blood. Results 8 somatic mutations in 28 breast cancer patients were found, including 309+CC (sample BC6), 309+C (sample BC20, sample BC26), 279Y (sample BC16), 297R (sample BC16), 214R (sample BC21), 190Y (sample BC61) and 204Y (sample BC64); 2 somatic mutations in 13 benign breast tumor patients were found, including 16292Y (sample BCA10) and 309+CC (sample BCA12). Conclusion Our data suggest that somatic mutations in mtDNA D-loop HVR1 and HVR2 may play a role in the pathogenesis of breast cancer in Yunnan Province.

杨越;贺军栋;郭学君;车艳华;张勇;孔庆鹏;张亚平;李立. 云南乳腺肿瘤发生与线粒体DNA控制区体细胞突变的相关性[J]. 基础医学与临床, 2010, 30(12): 1299-1302.

YANG Yue ;HE Jun-dong ;GUO Xue-jun ;CHE Yan-hua ;ZHANG Yong ;KONG Qing-peng ;ZHANG Ya-ping ;LI Li . Somatic mutations in the mitochondrial DNA control region and breast tumor pathogenesis in Yunnan Province[J]. Basic & Clinical Medicine, 2010, 30(12): 1299-1302.