title: Carrier frequency of F508del mutation of cystic fibrosis in Indian population.
abstract: BACKGROUND
  Cystic fibrosis (CF) is considered to be very rare in Indian subcontinent. Based on reports of CF in migrants from Indian subcontinent to United Kingdom and United States of America, the prevalence of CF is estimated to be between 1/10,000 and 1/40,000 in this ethnic group. The present study was done to estimate the carrier frequency of F508del mutation among neonates using cord blood samples to reflect the prevalence of CF in the study population.
  
  
  METHODS
  955 mothers delivering at our hospital between December 1999 and November 2000 were enrolled. Cord blood samples were analyzed for F508del mutation using polymerase chain reaction and gel electrophoresis. The frequency of patients homozygous for F508del mutation in the population was estimated using Hardy-Weinberg principle. The prevalence of CF was estimated by using the proportion of F508del homozygous cases out of all CF patients, as reported in various studies (19-44%) from Indian subcontinent.
  
  
  RESULTS
  Out of 955 cord blood samples, 4 were positive for F508del mutation. The carrier frequency and gene frequency of F508del mutation in the Indian population was calculated to be 1/238 (0.42%) and 1/477 (0.21%), respectively. Frequency of CF patients homozygous for F508del mutation is 1/228,006. The estimated prevalence of CF is 1/43,321 to 1/100,323 in Indian population.
  
  
  CONCLUSIONS
  CF does occur in Indian subcontinent though the prevalence is lesser than the Caucasian population.
authors.affiliation: Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110 029, India. drvishalkapoor@yahoo.co.in
authors.forename: Vishal
authors.initials: V
authors.lastname: Kapoor
authors.forename: Shivaram S
authors.initials: SS
authors.lastname: Shastri
authors.forename: Madhulika
authors.initials: M
authors.lastname: Kabra
authors.forename: Sushil Kumar
authors.initials: SK
authors.lastname: Kabra
authors.forename: Vijaya
authors.initials: V
authors.lastname: Ramachandran
authors.forename: Sadhna
authors.initials: S
authors.lastname: Arora
authors.forename: Prahlad
authors.initials: P
authors.lastname: Balakrishnan
authors.forename: Ashok Kumar
authors.initials: AK
authors.lastname: Deorari
authors.forename: Vinod Kumar
authors.initials: VK
authors.lastname: Paul
mesh_terms: D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005787:Gene Frequency; D006801:Humans; D007194:India / Q000453:epidemiology; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D015995:Prevalence; D012189:Retrospective Studies
chemical_list: C093349:cystic fibrosis transmembrane conductance regulator delta F508; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA