Allele frequencies in a worldwide survey of a CA repeat in the first intron of the CFTR gene

Eva Mateu, Francesc Calafell, Batsheva Bonné-Tamir, Judith R. Kidd, Teresa Casals, Kenneth K. Kidd, Jaume Bertranpetit*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


A dinucleotide CA repeat within intron 1 of the CFTR gene has recently been identified. We have determined the allele frequencies of this polymorphism in samples from 18 populations covering all major geographical areas, with a total of 1816 chromosomes. When considering allele distributions, African populations presented a wider range of alleles than other populations and also presented higher expected heterozygosities. Analysis of molecular variance showed that 8.04% of the genetic variance in this locus could be attributed to differences among populations. We concluded that the polymorphism in the CA repeat in intron 1 of the CFTR gene is highly informative in populations from all geographical regions of the world. Thus, it can be applied to family studies of unknown mutations causing cystic fibrosis (CF) and can provide valuable information for genetic counseling. Moreover, its analysis should be included in the haplotypic analysis of known CF mutations.

Original languageEnglish
Pages (from-to)15-20
Number of pages6
JournalHuman Heredity
Issue number1
StatePublished - Jan 1999


  • Allele frequency
  • CFTR gene
  • DNA polymorphism
  • Dinucleotide short tandem repeats


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