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在韩国患有Leber遗传性视神经病变的患者中发生线粒体DNA突变

Hee Kyung Yang¹, Moon-Woo Seong², Jeong-Min Hwang³

¹Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, 82 Gumi-ro, 173 Beon-gil, Bundang-gu, Seongnam, Gyeonggi-do, 13620, Republic of Korea.

Scientific reports

|March 8, 2024

概括

这项研究在韩国Leber遗传性视神经病 (LHON) 患者中确定了常见的线粒体DNA (mtDNA) 突变,发现11778A和14484C突变是最常见的. 这些发现凸显了LHON遗传原因的种族差异.

科学领域:

遗传学遗传学是一个
眼科医生眼科眼科
线粒体生物学线粒体生物学

背景情况:

勒伯遗传性视神经病 (LHON) 是一种母体遗传的线粒体疾病.
LHON主要影响视神经,导致视力丧失.
线粒体DNA (mtDNA) 的遗传变异是LHON的主要原因.

研究的目的:

为了研究韩国诊断为LHON的患者mtDNA突变的频谱.
为了比较韩国LHON患者与其他族群的特定mtDNA突变的流行率.

主要方法:

从145名韩国LHON患者的外周血液白细胞中收集了基因组DNA.
使用直接测序识别了mtDNA突变.
根据核酸位置 (nps) 分析和分类突变.

主要成果:

确定了七种主要的LHON突变,其中11778A (69.2%) 和14484C (21.2%) 是最常见的.
与其他种群相比,发现3460A突变的患病率较低 (3.4%).
在少数患者中发现了额外的临时突变 (T3472C,G13259A,T3394C).

结论:

韩国LHON患者的mtDNA突变谱与其他种族不同.
11778A和14484C突变的高患病率是韩国LHON人口的特征.
韩国人中3460A突变的低患病率表明LHON.在LHON中存在特定种族的遗传因素.

关键词:

韩国人韩国人韩国人勒贝尔的遗传性视神经病变线粒体DNA突变的突变频谱的使用情况

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