title: Allele frequencies in a worldwide survey of a CA repeat in the first intron of the CFTR gene.
abstract: 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 1,816 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.
authors.affiliation: Unitat d'Antropologia, Facultat de Biologia, Universitat de Barcelona, and Unitat Biologia Evolutiva, Facultat de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra, Barcelona, Spain.
authors.forename: E
authors.initials: E
authors.lastname: Mateu
authors.forename: F
authors.initials: F
authors.lastname: Calafell
authors.forename: B
authors.initials: B
authors.lastname: Bonné-Tamir
authors.forename: J R
authors.initials: JR
authors.lastname: Kidd
authors.forename: T
authors.initials: T
authors.lastname: Casals
authors.forename: K K
authors.initials: KK
authors.lastname: Kidd
authors.forename: J
authors.initials: J
authors.lastname: Bertranpetit
mesh_terms: D000483:Alleles; D003550:Cystic Fibrosis / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D018900:Dinucleotide Repeats / Q000235:genetics*; D005787:Gene Frequency; D005828:Genetics, Population; D006801:Humans; D007438:Introns / Q000235:genetics; D011110:Polymorphism, Genetic; D020080:Tandem Repeat Sequences / Q000235:genetics
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator