Delta F 508 molecular mutation in Indian children with cystic fibrosis

Indian J Med Res. 1996 Dec:104:355-8.

Abstract

A preliminary report of 13 Indian children with cystic fibrosis who were screened for the commonest mutation (delta F 508) is presented. Six (46%) patients were homozygous for delta F 508, while two patients were compound heterozygotes. Thus 14 (53.8%) of 26 mutant chromosomes had delta F 508 mutation. These findings confirm that cystic fibrosis occurs in India and all children with persistent respiratory problems and/or malabsorption should be screened for this disease.

Publication types

  • Clinical Trial

MeSH terms

  • Child
  • Child, Preschool
  • Cystic Fibrosis / genetics*
  • Female
  • Genetic Testing*
  • Humans
  • India
  • Infant
  • Male
  • Point Mutation*