在东南亚逐步超核麻的基因变异的识别
Adeline Su Lyn Ng1,2,3, Ai Huey Tan4,5, Yi Jayne Tan1
1Department of Neurology, National Neuroscience Institute, Singapore, Singapore.
概括
东南亚渐进性超核性麻 (PSP) 患者的基因分析揭示了新型变异,其中MAPT,GBA1和OPTN是常见的. 结果表明有不同的遗传因素,并与其他神经退行性疾病重叠.
科学领域:
- 神经遗传学 神经遗传学
- 神经退行性疾病 神经退行性疾病
- 人口遗传学 人口遗传学
背景情况:
- 渐进性超核性 (PSP) 主要是零星的,有限的家族病例.
- 在高加索PSP种群中,MAPT是主要的遗传风险基因.
- 亚洲PSP种群中的遗传因素尚未得到充分研究.
研究的目的:
- 调查东南亚PSP患者的遗传因素.
- 在这个队列中确定与PSP相关的新型遗传变异.
主要方法:
- 采用下一代测序 (整个外基因组,整个基因组,向性).
- 分析了两个亚洲队列,包括177名PSP患者.
主要成果:
- 在16名患者 (9%) 中确定了17种致病性/可能致病性变异,包括8种新型变异.
- 在MAPT,GBA1,OPTN,SYNJ1和SQSTM1.1中发现了常见的变异.
- 检测到TBK1,PRNP和ABCA7的变异,与其他神经退行性疾病有关.
结论:
- 亚洲PSP队伍中的遗传发现与西方人群不同.
- 表明PSP和其他神经退行性疾病之间有共同的遗传架构.
- 建议在独立的亚洲队列中进行进一步的功能研究和验证.
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