首页 | 本学科首页   官方微博 | 高级检索  
     


APC mutations in familial adenomatous polyposis families in the Northwest of England
Authors:John G. Armstrong  D. Rhodri Davies  Simon P. Guy  Ian M. Frayling  D. Gareth R. Evans
Abstract:
We have investigated a series of FAP patients in the Northwest of England in order to identify and characterise the specific APCmutations. Using SSCP, we found 27 mutations in a total of 50 families investigated. The mutations were predominantly frameshift or nonsense mutations and there were two splice site changes. We have described two patients with severe Gardner's phenotype from different ethnic backgrounds who share the same mutation at codon 1537. Although the frequency of the most common mutation appears low, it is not dissimilar to that reported by other groups. Hum Mutat 10:376–380, 1997. © 1997 Wiley-Liss, Inc.
Keywords:familial adenomatous polyposis  APC gene  polyposis register  single-stranded conformation Polymorphism  frameshift  stop codon
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号