Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia
Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia
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DOI：
10.2144/000113615
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发表时间：
2011-03-01
期刊：
影响因子：
2.7
通讯作者：
Sarsero, Joseph P.
中科院分区：
文献类型：
--
作者：
Holloway, Timothy P.;Rowley, Simone M.;Sarsero, Joseph P.
弗里德里希共济失调是一种神经退行性疾病，由FXN基因第一个内含子内GAA三核苷酸重复序列扩增引起。中断GAA重复序列可能有助于减轻GAA扩增对FXN基因表达的抑制作用，降低致病性。我们开发了一种简单快速的PCR和限制性内切酶检测方法来评估GAA重复序列的纯度。
Friedreich ataxia is a neurodegenerative disorder caused by the expansion of a GAA trinucleotide repeat sequence within the first intron of the FXN gene. Interruptions in the GAA repeat may serve to alleviate the inhibitory effects of the GAA expansion on FXN gene expression and to decrease pathogenicity. We have developed a simple and rapid PCR- and restriction enzyme-based assay to asess the purity of GAA repeat sequences.