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Q J Med 2000; 93: 313-315
© 2000 Association of Physicians

Commentary

A hypothesis regarding the origin and spread of the cystic fibrosis mutation {Delta}F508

K.P. Dawson and P.M. Frossard1

From the Departments of Paediatrics and 1 Pathology, Faculty of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates


   Introduction
 
Morral et al.1 have presented strong evidence that the {Delta}F508 mutation arose in a population genetically distinct from the present European population. Further, data plotted on synthetic maps indicate a marked frequency gradient from south-east to north-west Europe, e.g. 100% presence of {Delta}F508 in CF mutations in the Faroe Islands compared with 27% of all mutations in the Turkish CF population.2 The explanation offered for this phenomenon is that there has been a greater mixing and heterogeneity in the southern populations and relative isolation in the northern. The current view is that {Delta}F508 was not spread by the Indo-Europeans but by a group that preceded them and had originated in the ‘Middle-East; or the East’.1 Bertranpetit and Calafell3 have summarized the basis of the estimates of the age of . . . [Full Text of this Article]


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