Related Experiment Videos

Delta F 508 molecular mutation in Indian children with cystic fibrosis

M Kabra1, M Ghosh, S K Kabra

  • 1Department of Paediatrics, All India Institute of Medical Sciences, New Delhi.

The Indian Journal of Medical Research
|December 1, 1996
PubMed

Insights

Cystic fibrosis (CF) is confirmed in Indian children, with the common delta F 508 mutation found in over half of affected chromosomes. Early screening for persistent respiratory or malabsorption issues is recommended.

Area of Science:

  • Medical Genetics
  • Pediatrics
  • Pulmonology

Background:

  • Cystic fibrosis (CF) is a genetic disorder typically affecting individuals of European descent.
  • The prevalence and genetic basis of CF in the Indian population remain under-investigated.

Purpose of the Study:

  • To investigate the presence of cystic fibrosis in Indian children.
  • To determine the frequency of the delta F 508 mutation, the most common CF-causing mutation, in this cohort.

Main Methods:

  • A preliminary screening of 13 Indian children diagnosed with cystic fibrosis was conducted.
  • Genetic analysis focused on identifying the delta F 508 mutation.

Main Results:

  • Six out of 13 patients (46%) were homozygous for the delta F 508 mutation.
  • Two patients were compound heterozygotes for the delta F 508 mutation.
  • Overall, the delta F 508 mutation was present on 14 out of 26 (53.8%) mutant chromosomes.

Conclusions:

  • This study confirms that cystic fibrosis occurs in Indian children.
  • The delta F 508 mutation is a significant cause of CF in this population.
  • Screening for CF is recommended for Indian children presenting with persistent respiratory problems or malabsorption.

Related Concept Videos