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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 mutations in the D-loop region of mitochondrial DNA (D-loop region) in 3 cases of children with presbyopia (HGPS) in Guangxi Han family with one pre-aging pedigree have cumulative age-related mutations. Methods The mitochondrial DNA D-loop region of 3 HGPS patients, their parents and 8 normal controls (normal controls) were amplified by polymerase chain reaction (PCR) and sequenced. Results There were more mutation sites in mitochondrial DNA D-loop region than those in Cambridge normal group. The mutation rate of mitochondrial DNA D-loop region between HGPS patients and normal controls was statistically significant (P <0.05). Three HGPS patients The mitochondrial DNA D-loop region haplotype was consistent with that of its mother. No new mutations were found in the mitochondrial DNA D-loop region of 3 HGPS patients and no difference was found in the mitochondrial DNA D-loop region of 3 HGPS patients. Conclusion There was no accumulation of D-loop mutations in mitochondrial DNA of 3 HGPS patients before the age of 7, and no age-related mutations were found in different age groups. It is concluded that mitochondrial DNA mutation is not the important reason for accelerating aging in this family HGPS patients.