分子进化与基因组多样性（张亚平）知识库

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。方法来自云南昆明的28例恶性乳腺肿瘤患者和13例良性乳腺肿瘤患者,取其肿瘤组织及外周血,对mtDNA控制区中的第一高变区(HVSⅠ-)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HVSⅠ-、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一定作用。

Objective To investigate the somatic mutations in control region of mitochondrial DNA（mtDNA） in patients with breast tumor in Yunnan province.Methods DNA from 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 by PCR.The mutations of products were screened by sequencing and compared the mutations between tumor tissue and peripheral blood.Results Eight 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）;two somatic mutations in 13 benign breast tumor patients were found,including 16292Y（sample BCA10） and 309＋CC（sample BCA12）.Conclusion Somatic mutations in mtDNA D-loop HVR1 and HVR2 may play a role in the pathogenesis of breastcancer in Yunnan Province.