title: The incidence of different cystic fibrosis mutations in the Scottish population: effects on prenatal diagnosis and genetic counselling.
abstract: We present an analysis of the frequency of 16 different cystic fibrosis (CF) mutant alleles in the Scottish population. Each allele was detected in DNA amplified by the polymerase chain reaction (PCR) either directly on polyacrylamide gels, on agarose gels after restriction enzyme digestion, or by using allele specific oligonucleotides. Among 506 CF chromosomes, of predominantly Scottish origin, the frequencies of the different mutations were delta F508 0.71, G551D 0.05, G542X 0.04, R117H 0.01, 1717-1G----A 0.01, A455E + delta I507 + R553X + R560T + W1282X + 621 + 1G----T combined 0.03, unpublished 0.01, and unknown 0.13. No examples of D110H, R347P, S549N, S549I, or 2566ins AT mutations were found. The relevance of this type of analysis for both prenatal diagnosis and heterozygote screening is discussed.
authors.affiliation: Human Genetics Unit, University of Edinburgh, Western General Hospital.
authors.forename: A E
authors.initials: AE
authors.lastname: Shrimpton
authors.forename: I
authors.initials: I
authors.lastname: McIntosh
authors.forename: D J
authors.initials: DJ
authors.lastname: Brock
mesh_terms: D000483:Alleles; D001483:Base Sequence; D003550:Cystic Fibrosis / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA / Q000032:analysis; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D005787:Gene Frequency; D006580:Genetic Carrier Screening / Q000379:methods; D005817:Genetic Counseling; D005819:Genetic Markers; D006801:Humans; D015994:Incidence; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction / Q000379:methods; D011296:Prenatal Diagnosis; D011995:Recombination, Genetic; D012307:Risk Factors; D012606:Scotland / Q000453:epidemiology
chemical_list: C505032:CFTR protein, human; D005819:Genetic Markers; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA