Spatial distribution of the DF508 mutation in cystic fibrosis: a review

Abstract

The recent finding of the most common mutation (DF508) in cystic fibrosis in white populations has led to the publication of numerous data regarding its distribution and frequency. A review of the available data shows that there is a gradient in both the incidence of cystic fibrosis and the frequency of the DF508 mutation in Europe, the highest values being found in western Europe. It is postulated that the DF508 mutation was present in a western European population before the arrival of the Indo-Europeans from the Middle East; the mutation then spread into these migrating populations.