广西汉族早老症家系三例病例研究--线粒体DNAD-环区突变分析  

Study of Three Cases of Hutchinson-Gilford Progeria Syndrome in A Guangxi Han Family: Analysis of Mitochondrial DNA D-loop Region Mutations

作　　者：李福记 吴华裕[1] 韩焕钦 陈凤平[1] 覃霞[3] 吕宇[1] 林有坤[3] 舒艳[4] 张伟峰 方玲[1] 胡启平[1] 袁志刚[1] 舒伟 

机构地区：[1]广西医科大学基础医学院细胞生物学与遗传学教研室,广西南宁市530021 [2]广东医学院附属医院感染内科 [3]广西医科大学第一附属医院皮肤科 [4]浙江省湖州市妇幼保健院

出　　处：《中国全科医学》2015年第29期3624-3627,共4页Chinese General Practice

基　　金：广西自然科学青年基金资助项目(2013GXNSFBA019143);国家自然科学基金资助项目(81260479);广西高校大学生创新创业训练计划资助项目(201410598030)

摘　　要：目的探讨广西汉族1个早老症家系中3例儿童早老症(HGPS)患者线粒体DNA D-环区(D-loop区)突变是否呈现年龄相关的突变累积。方法采用聚合酶链反应(PCR)对3例HGPS患者及其父母、8例正常老人(正常老人组)的线粒体DNA D-loop区进行扩增、测序。结果正常老年人线粒体DNA D-loop区较Cambridge序列存在较多的突变位点,HGPS患者与正常老人组线粒体DNA D-loop区突变率差异具有统计学意义(P<0.05);3例HGPS患者线粒体DNA D-loop区单体型与其母亲一致;未检测到3例HGPS患者线粒体DNA D-loop区发生新突变,也未检测到3例HGPS患者线粒体DNA D-loop区存在差异。结论该家系3例HGPS患者在7岁前未发生线粒体DNA D-loop突变累积,且不同年龄患者均未见年龄相关的突变累积,推论线粒体DNA突变不是该家系HGPS患者加速衰老的重要原因。Objective To investigate whether age-related mutation accumulation occurs in the mitochondrial DNA（ mt DNA） D-loop region of three cases with Hutchinson-Gilford progeria syndrome（ HGPS） in a Guangxi Han family.Methods Polymerase chain reaction（ PCR） was used to amplify the mt DNA D-loop region of the three HGPS cases and their parents,as well as 8 normal seniors,and all the PCR products were sequenced and analyzed. Results The normal elders had more mutation sites in the mt DNA D-loop region compared with Cambridge standard sequence,and the three HGPS cases and the normal elders were significantly different in the mutation in the mt DNA D-loop region（ P〈0. 05）; the three HGPS cases had same haplotype with their mothers; no new mutations were noted in the mt DNA D-loop region of the three HGPS cases,and no differences were observed in the mt DNA D-loop region among the three HGPS cases. Conclusion No mutation accumulation was observed in the mt DNA D-loop region of the three HGPS cases before they turned 7 years old,and no age-related mutation accumulation was found in patients of different age stages. This may lead to a conclusion that mt DNA mutation is not a major reason for the accelerated aging of the three HGPS patients in this family.

关 键 词：衰老 过早 早老症 DNA 线粒体 D-LOOP区 突变 

分 类 号：R441.9[医药卫生—诊断学]