Document Type

Article

Department

Paediatrics and Child Health

Abstract

Objective: Evaluation of the incidence of common delta F508 mutation in a cohort of Pakistani children with Cystic Fibrosis (CF).
Methodology: The presence of the CFTR gene mutation at position 508 (delta F508) was evaluated in 15 consecutively presenting children with CF, proven by clinical features and an unequivocally positive sweat chloride test. The DNA from mononuclear cells was extracted and the delta F508 mutation assessed by the amplification refractory mutation system using the polymerase chain reaction.
Results: The delta F508 mutation was found in 9 cases (60%), of which 5 were homozygous for the disorder.
Conclusion: In this preliminary study, the reported frequency of the delta F508 mutation in Pakistani children with CF is lower than the reported frequency among the Western Caucasian population. Further studies are needed to characterize the common genetic mutations in Pakistani children with CF.

Publication

Journal of Pakistan Medical Association

Included in

Pediatrics Commons

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