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为了确定体细胞mtDNA突变的积聚增加在Huntington氏病(HD)的进展中的作用。作者应用连续稀释聚合酶链反应技术检查了22例HD患者脑mtDNA4977缺失的含量,检测结果与年龄相应的对照者mtDNA缺失水平作了比较。 脑组织取自22例有临床症关的HD尸检患者的额叶、颞叶、枕叶和壳核。与总的mtDNA水平比较来测定mtDNA4977缺失水平。mtDNA4977缺失
To determine the effect of increased accumulation of somatic mtDNA mutations on the progression of Huntington’s disease (HD). The authors examined the content of brain mtDNA4977 deletion in 22 cases of HD patients using serial dilution-polymerase chain reaction (PCR-RFLP). The results were compared with the age-matched controls. Brain tissue was taken from the frontal lobe, temporal lobe, occipital lobe and putamen of 22 patients with clinically relevant HD autopsy. The level of mtDNA4977 deletion was determined in comparison with the total mtDNA level. mtDNA4977 is missing