Detection of RASA1 mutations in patients with sporadic Sturge-Weber syndrome

摘要：

Objective The aim of this study was to identify RASA1 mutation in Chinese population with sporadic SturgeWeber 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 poly-merase 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.

关键词： Sturge-Weber syndrome RASA1 Polymerase chain reaction (PCR) Mutation

作者: Qin Zhou Jia-wei Zheng Xiu-juan Yang Hui-jun Wang Duan Ma Zhong-ping Qin

作者单位: Department of Oral and Maxillofacial Surgery, Ninth Peoples Hospital, College of Stomatology, Shang The Key Laboratory of Molecular Medicine, Ministry of Education, Shanghai Medical College, Fudan Uni Special Department of Hemangioma, Tumor Hospital of Linyi City, Linyi 276000, Shandong Province, Chi

会议类型: 国际会议

会议名称: The First Session of the 3th Academic Committee Conference of Shanghai Key Lab of Stomatology(上海市口腔医学重点实验室第三届学术委员会第1次会议)

会议地点: 上海

会议语种:英文

页码: 373-377

在线出版日期: 2011-12-28（万方平台首次上网日期，不代表论文的发表时间）