Sułek Anna, Hoffman-Zacharska Dorota, Bednarska-Makaruk Małgorzata, Szirkowiec Walentyna, Zaremba Jacek
Department of Genetics, Institute of Psychiatry and Neurology, Warszawa, Poland.
J Appl Genet. 2004;45(1):101-5.
Spinocerebellar ataxias are a group of neurodegenerative disorders caused by dynamic mutations of microsatellite repeats. Two novel forms of SCAs have been described recently: SCA8, with expansions of CTA/CTG repeats in 3'UTR of the SCA8 gene, and SCA12, caused by expansion of the CAG tract in 5'UTR of the SCA12/PP2R2B gene. Analysis of CTA/CTG and CAG polymorphism in those two genes was performed in a Polish control group consisting of 100 individuals without any neurological signs. The distribution and ranges of the number of non-pathogenic repeats were similar to those observed in other populations described previously. Expansion of CTA/CTG repeats in the SCA8 locus was found in 2 of 100 controls and in 5 probands among 150 pedigrees affected with unidentified ataxias. As such expanded alleles were also observed in their healthy relatives, the pathogenic role of expansions in the SCA8 gene remains uncertain.
脊髓小脑共济失调是一组由微卫星重复序列的动态突变引起的神经退行性疾病。最近描述了两种新的脊髓小脑共济失调形式：SCA8，其SCA8基因3'非翻译区的CTA/CTG重复序列发生扩增；SCA12，由SCA12/PP2R2B基因5'非翻译区的CAG序列扩增所致。在一个由100名无任何神经症状的个体组成的波兰对照组中，对这两个基因中的CTA/CTG和CAG多态性进行了分析。非致病性重复序列数量的分布和范围与先前描述的其他人群中观察到的相似。在100名对照者中有2名以及在150个患有不明原因共济失调的家系中的5名先证者中发现了SCA8基因座中CTA/CTG重复序列的扩增。由于在其健康亲属中也观察到了这种扩增等位基因，因此SCA8基因扩增的致病作用仍不确定。
