Cystic Fibrosis In India : Report Of 30 Cases And Frequency Of Delta F508 Mutation.

ABSTRACT

Cystic fibrosis (CF) is the most common potentially lethal disorder of Caucassians. Its frequency in India is not known. We diagnosed 30 cases of CF based on sweat chloride testing. The clinical profile and frequency of delta F508 mutation was studied. The frequency of F508 mutation was 27% (16 chromosomes) which is much lower as compared to that patients in the Western world. Eight patients carried other mutations, three of them were new mutations.