Qin Zhou1, Jia-wei Zheng, Xiu-juan Yang, Hui-jun Wang, Duan Ma, Zhong-ping Qin. 1. Department of Oral and Maxillofacial Surgery, Ninth People's Hospital, College of Stomatology, Shanghai Jiao Tong University School of Medicine, Shanghai Key Lab of Stomatology, Shanghai, 200011, China.
Abstract
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.
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 SWSpatients.
Authors: Jason G Glanzer; Lixin Liao; Tammy Baker; Mary H McMullen; Amy S Langan; Lisa Z Crandall; Roseann L Vorce Journal: Gene Date: 2002-02-20 Impact factor: 3.688