Open Access. Powered by Scholars. Published by Universities.®
Articles 1 - 1 of 1
Full-Text Articles in Epidemiology
The Cradle Of The Deltaf508 Mutation, Danish Saleheen, Philippe M Frossard
The Cradle Of The Deltaf508 Mutation, Danish Saleheen, Philippe M Frossard
Department of Biological & Biomedical Sciences
Cystic fibrosis (CF) is the most common autosomal recessive disorder caused due to mutation/s in the CFTR gene. The most common mutation in CFTR worldwide is deltaF508 and cystic fibrosis genetic analysis consortium revealed that this mutation is responsible for approximately 66% of all CF chromosomes in the world. Studies looking at the DNA polymorphic haplotypes created by CF linked markers suggest that deltaF508 has a single origin as this mutation has been found associated exclusively with one marker haplotype. Despite a high prevalence of this mutation in CF patients in northern parts of Europe, findings suggest that this mutation …