淋巴瘤组织中线粒体DNA突变的研究  

Mitochondrial DNA Mutations in Lymphoma Tissue

作　　者：马佳[1] 陈治文[1] 梅传忠[1] 杨清玲[1] 王惠[2] 

机构地区：[1]安徽省蚌埠医学院生物化学与分子生物学教研室,蚌埠233000 [2]安徽省蚌埠医学院临床检验诊断实验中心,蚌埠233000

出　　处：《华中科技大学学报（医学版）》2010年第2期202-206,211,共6页Acta Medicinae Universitatis Scientiae et Technologiae Huazhong

基　　金：安徽省教育厅自然科学资助项目(No.KJ2007B198)

摘　　要：目的通过检测恶性淋巴瘤组织中线粒体DNA(mitochondrial DNA,mtDNA)的突变,以探讨mtDNA突变在恶性淋巴瘤发生中的作用。方法提取38例恶性淋巴瘤组织及其对应患者外周血白细胞的DNA,经PCR扩增部分mtDNA片段,PCR产物直接测序法测定mtDNA序列。以外周血淋巴细胞测序结果作为对照,确定肿瘤组织mtDNA的突变。结果18例(47.4%)恶性淋巴瘤组织中发现25个突变,25个突变发生在15个核苷酸位点,其中21个突变位于mtDNA的D-Loop区,4个突变位于mtDNA的编码区,D-Loop发生变异的频率是编码区的4.26倍。13个(13/25,52%)突变位于mtDNA多态性位点。结论恶性淋巴瘤组织中存在mtDNA的突变,mtDNA突变可能与淋巴瘤的发生、进展有一定关系。Objective To detect mitochondrial DNA（mtDNA） mutation in lymphoma tissues,and to investigate its roles in the carcinogenesis of lymphoma.Methods Total DNA was extracted from tumor tissues and peripheral lymphocytes derived from 38 patients with lymphoma,the sequence of mtDNA was amplified by PCR,and the PCR products were sequenced directly with the cycle sequencing methods.The mtDNA mutations in the tumor tissues were determined by comparing with corresponding peripheral lymphocytes.Results Twenty-five mutations at 15 unique np were identified.Twenty-one of 25 mutations were located in the D-Loop（non-coding） region and 4 in non-D-Loop（coding） regions.The relative mutation frequency in the D-Loop was 4.26-fold higher than in coding regions.Thirteen of 25（52%） mutations were located at polymorphism sites.Conclusion mtDNA mutations were found in lymphoma tissues,and may be correlated to the carcinogenic process.

关 键 词：线粒体DNA 突变 淋巴瘤 

分 类 号：R733.41[医药卫生—肿瘤]