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首页> 外文期刊>Neurology: Official Journal of the American Academy of Neurology >Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism.
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Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism.

机译:DJ-1突变筛查早期发病常染色体隐性震颤麻痹。

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摘要

The DJ-1 gene was identified as responsible for early onset autosomal recessive parkinsonism in two families (PARK7). In this study, after excluding mutations in the parkin gene, the authors screened a large series of early onset autosomal recessive parkinsonism families and consanguineous isolated patients of diverse geographic origins for DJ-1 mutations. No mutations were found. This indicates that PARK7 is not a common locus for early onset autosomal recessive parkinsonism, and that one or more new loci remains to be identified.
机译:DJ-1基因被确认为负责早发性常染色体隐性震颤麻痹两个家庭(PARK7)。除去帕金基因的突变,作者一系列大型的早发性的筛选常染色体隐性帕金森症和家庭血缘的隔离病人的多样化地理起源DJ-1突变。突变被发现。不是早发性常染色体的一个共同的轨迹隐性震颤麻痹,一个或多个新的位点仍有待确定。

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