Correlation Between CCG Polymorphisms and CAG Repeats During Germline Transmission in Chinese Patients with Huntington's Disease

• 作者: Hong-Lei Li Hong-Rong Cheng Hui-Li Yu Miao Xu Shi-Rui Gan Xiao-Yan Li Yan-Bin Zhang Zhi-Ying Wu
• 来源期刊: 神经科学通报（英文版）
• 年，卷（期）: 2020,（7）
• 页码范围: 811-814
• 页数: 4页
• 语种: 英文

摘要

Dear Editor, Huntington's disease (HD) is an autosomal dominant neurodegenerative disease characterized by movement disorder, progressive dementia, and psychiatric and behavioral changes.It is caused by unstable expanded CAG trinucleotide repeats in exon 1 of the huntingtin (HTT)gene, located on chromosome 4p16.3 [1].The number of CAG repeats is inversely correlated with the onset age of HD, with more expanded CAG repeats correlated with an earlier onset [2].In previous studies, we have confirmed the inverse correlation between the onset age and the CAG repeat size in Chinese HD patients [3, 4].