Department of Neurology, Peking University Third Hospital, Beijing, China; Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative diseases, Beijing, China.
Neurology Centre, Dongzhimen Hospital, Beijing University of Chinese Medicine, Beijing, China.
Neurobiol Aging. 2021 Jun;102:224.e1-224.e3. doi: 10.1016/j.neurobiolaging.2021.01.028. Epub 2021 Feb 7.
To detect the mutation frequency of exon 4 of amyotrophic lateral sclerosis (ALS) in a new disease-causing gene, GLT8D1 (NM_018446), in Chinese patients, we used whole-exome sequencing technology to screen the full-length GLT8D1 gene in 539 Chinese sporadic ALS patients and 176 controls without a history of neurological diseases. Then, we sequenced the coding region of exon 4 in the GLT8D1 gene in a cohort consisting of 256 sporadic ALS patients. Our current results did not find an association between GLT8D1 and ALS in Chinese patients, and further studies will be required.
为了检测中国患者新致病基因 GLT8D1（NM_018446）中 ALS 外显子 4 的突变频率，我们使用全外显子组测序技术在 539 名中国散发性 ALS 患者和 176 名无神经病史的对照中筛选全长 GLT8D1 基因。然后，我们在由 256 名散发性 ALS 患者组成的队列中对 GLT8D1 基因的外显子 4 编码区进行测序。我们目前的结果未发现 GLT8D1 与中国患者 ALS 之间存在关联，还需要进一步研究。
