Sturge-Weber综合征患者RASA1基因的突变检测

RASA1 gene alterations in patients with sprodic Sturge-Weber syndrome

目的:检测散发性Sturge-Weber综合征(Sturge-Weber syndrome,SWS)患者是否存在RASA1基因的异常。方法:经过详细的病史询问和临床检查,采集9例散发性SWS患者的外周静脉血标本,提取基因组DNA。应用PCR技术对RASA1基因的25个外显子、外显子与内含子交界处及启动区(-1000bp)序列进行扩增,然后直接测序分析。结果:在9例SWS患者中,发现1例尚未报道的同义突变位点(c.1229G>A),其余均无异常。结论:RASA1基因结构变异与散发性SWS的相关性可能不大,但该基因在SWS中的致病情况还有待于进一步研究。

PURPOSE：To detect the RASA1 mutations in patients with sporadic Sturge-Weber syndrome.METHODS：Genomic DNA was extracted from samples of peripheral blood of 9 sporadic SWS patients.Genomic DNA was PCRamplified using primer pairs spanning 25 exons,promoter regions as well as intron-exon boundaries of RASA1 gene.RESULTS：One novel samesense mutation（c.1229 GA） of RASA1 was identified in the present series.CONCLUSION：It implied that the RASA1 gene was not likely virulence gene for SWS,but further study should be required for knowing RASA1 gene mutation in Chinese patients with SWS.