Neurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, 1271 Ancash St., Barrios Altos, Lima, Lima, Peru.
Lerner Research Institute, Genomic Medicine, Cleveland Clinic Foundation, Cleveland, OH, USA.
Cerebellum. 2019 Oct;18(5):841-848. doi: 10.1007/s12311-019-01057-x.
Spinocerebellar ataxia type 10 (SCA10) is a repeat expansion disease occurring mostly in Latin America, suggesting that the mutation spread with the peopling of the Americas, or that Amerindian populations, have a higher ATXN10 mutability. High frequency of large normal alleles is associated with prevalence and relative frequency of other repeat expansion diseases. To test whether the allele distribution of the SCA10-causing ATXN10 microsatellite in an Amerindian Peruvian population differs from that of other populations. The ATXN10 allele distribution in a Quechua Peruvian population from Puno, Peru, is similar to that of Finland. Mean allele size and mode were also similar to those of Mexico, Japan, and white Europeans. ATXN10 allele distribution in a healthy Amerindian population from Peru does not differ from that of other populations.
脊髓小脑性共济失调 10 型(SCA10)是一种重复扩展疾病,主要发生在拉丁美洲,这表明该突变是随着美洲人的迁徙而传播的,或者美洲印第安人群体的 ATXN10 突变率更高。大正常等位基因的高频率与其他重复扩展疾病的患病率和相对频率有关。为了测试引起 SCA10 的 ATXN10 微卫星在美洲印第安人秘鲁人群中的等位基因分布是否与其他人群不同。来自秘鲁普诺的克丘亚秘鲁人群中的 ATXN10 等位基因分布与芬兰相似。平均等位基因大小和模式也与墨西哥、日本和白种欧洲人相似。来自秘鲁的健康美洲印第安人群体的 ATXN10 等位基因分布与其他人群没有差异。