Institute for Human Genetics, University of Luebeck, Ratzeburger Allee 160, Luebeck, Germany.
Eur J Hum Genet. 2010 Aug;18(8):965-8. doi: 10.1038/ejhg.2010.40. Epub 2010 Mar 31.
Autosomal dominantly inherited spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative disorders primarily affecting the cerebellum. Genetically, 26 different loci have been identified so far, although the corresponding gene has not yet been determined for 10 of them. Recently, mutations in the ATPase family gene 3-like 2 gene were presented to cause SCA type 28. To define the frequency of SCA28 mutations, we performed molecular genetic analyses in 140 unrelated familial cases with ataxia. Among other variations, we found a novel missense mutation at an evolutionarily conserved amino-acid position using a single-strand conformation polymorphism approach, followed by DNA sequencing. This amino-acid exchange p.E700K was detected in a four-generation German family and was not observed in a survey of 400 chromosomes from healthy control individuals.
常染色体显性遗传脊髓小脑共济失调（SCA）是一组异质性的神经退行性疾病，主要影响小脑。从遗传学上讲，迄今为止已经确定了 26 个不同的位点，尽管其中 10 个还没有确定相应的基因。最近，ATP 酶家族基因 3 样 2 基因突变被认为可导致 SCA 28 型。为了确定 SCA28 突变的频率，我们对 140 例无关联的共济失调家系进行了分子遗传学分析。除了其他变异外，我们还使用单链构象多态性方法发现了一个位于进化上保守的氨基酸位置的新错义突变，随后进行了 DNA 测序。该氨基酸置换 p.E700K 是在一个四代德国家族中发现的，在对 400 个来自健康对照个体的染色体进行的调查中未观察到。
