title: Testing for cystic fibrosis using allelic association.
abstract: A particular haplotype defined by probes XV2c, KM19, and CS.7 at the D7S23 locus was found on 90% of chromosomes which carry cystic fibrosis (CF), but on only 11% of normal chromosomes in a UK sample of CF carriers. We show how such data can be used to calculate carrier risks for people with and without a family history of CF, and give examples of clinical applications. For parents or sibs of dead CF patients, phase and genotypes can often be assigned with only 1 to 2% error. However, this method is not suitable for prenatal testing where there is no history of CF; for couples with no family history, no fetus can be shown to be at more than 2% risk of being affected.
authors.affiliation: Department of Medical Genetics, St Mary's Hospital, Manchester.
authors.forename: A J
authors.initials: AJ
authors.lastname: Ivinson
authors.forename: A P
authors.initials: AP
authors.lastname: Read
authors.forename: R
authors.initials: R
authors.lastname: Harris
authors.forename: M
authors.initials: M
authors.lastname: Super
authors.forename: M
authors.initials: M
authors.lastname: Schwarz
authors.forename: J
authors.initials: J
authors.lastname: Clayton Smith
authors.forename: R
authors.initials: R
authors.lastname: Elles
mesh_terms: D000328:Adult; D000483:Alleles; D003550:Cystic Fibrosis / Q000235:genetics*; D015342:DNA Probes; D004587:Electrophoresis, Agar Gel; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods; D006801:Humans; D008297:Male; D010375:Pedigree; D011296:Prenatal Diagnosis / Q000379:methods*; D012306:Risk
chemical_list: D015342:DNA Probes