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首页> 外文期刊>Child's nervous system: ChNS : official journal of the International Society for Pediatric Neurosurgery >Detection of RASA1 mutations in patients with sporadic Sturge-Weber syndrome.
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Detection of RASA1 mutations in patients with sporadic Sturge-Weber syndrome.

机译:散发性Sturge-Weber综合征患者中RASA1突变的检测。

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OBJECTIVE: The aim of this study was to identify RASA1 mutation in Chinese population with sporadic Sturge-Weber syndrome (SWS). METHODS: Genomic DNA was obtained from peripheral blood of nine patients with sporadic SWS. The 25 exons, promoter regions (-1,000 bp) as well as intron-exon boundaries of RASA1 were amplified by polymerase chain reaction, and products were sequenced directly. RESULTS: A novel synonymous mutation (c.1229 G > A [p.K420K]) of RASA1 was identified in the present series. CONCLUSION: It implied that RASA1 may be not a virulence gene, but further study is needed to know RASA1 gene mutation in SWS patients.
机译:目的:本研究的目的是鉴定散发性Sturge-Weber综合征(SWS)的中国人群的RASA1突变。方法:从9例散发性SWS患者的外周血中获得基因组DNA。通过聚合酶链反应扩增了RASA1的25个外显子,启动子区域(-1,000 bp)以及内含子-外显子边界,并直接测序了产物。结果:在本系列中鉴定出一种新的RASA1同义突变(c.1229 G> A [p.K420K])。结论:提示RASA1可能不是致病基因,但尚需进一步研究以了解SWS患者的RASA1基因突变。

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