Commentary QJM A hypothesis regarding the origin and spread of the cystic fibrosis mutation DF508

• Main Authors: K. P. Dawson, P. M. Frossard
• Other Authors: The Pennsylvania State University CiteSeerX Archives
• Format: Text
• Language: English
• Subjects: Faroe Islands
• Online Access: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.551.4878; http://qjmed.oxfordjournals.org/content/93/5/313.full.pdf

Morral et al.1 have presented strong evidence that Asian countries has made this method necessary. In a large Asian population, the study of almost 900the DF508 mutation arose in a population genetically distinct from the present European population. chromosomes revealed the absence of carriers of the common Caucasian-related mutations (includingFurther, data plotted on synthetic maps indicate a marked frequency gradient from south-east to north- DF508). However, an affected Pakistani child born to consanguineous parents was shown to be homozy-west Europe, e.g. 100 % presence of DF508 in CF mutations in the Faroe Islands compared with 27 % gous for mutation S549N (GA).5 Schwartz et al.6 reported six affected Pakistani children, of whomof all mutations in the Turkish CF population.2 The explanation offered for this phenomenon is that there three were homozygous for the DF508 mutation. It was not stated to which ethnic group within Pakistanhas been a greater mixing and heterogeneity in the southern populations and relative isolation in the the children belonged. Further study of Asians with CF was reported by Bowler et al.,7 who outlined thenorthern. The current view is that DF508 was not spread by the Indo-Europeans but by a group that clinical course in nine Pakistani Asians. Four of the nine were homozygous carriers for the DF508 muta-preceded them and had originated in the ‘Middle-East; or the East’.1 Bertranpetit and Calafell3 have tion. A comparison was made with a group of 18