title: Usefulness of linkage disequilibrium of KM-19 and XV-2c DNA probes for genetic counselling in a high-risk CF family.
abstract: A French couple with an individual risk of carrying the cystic fibrosis (CF) mutation of 1/2 sought genetic counselling. From the DNA haplotypes generated by XV-2c and KM-19 RFLPs, it could be deduced that only one subject was a carrier, lowering the risk of having a CF baby from 1/16 to 1/200. The strong linkage disequilibrium between these RFLPs and the CF allele observed in France reduced the risk to 1/1600.
authors.affiliation: Laboratoire de Biochimie Génétique, CHU Cochin, Paris, France.
authors.forename: J C
authors.initials: JC
authors.lastname: Chomel
authors.forename: A
authors.initials: A
authors.lastname: Haliassos
authors.forename: L
authors.initials: L
authors.lastname: Tesson
authors.forename: M
authors.initials: M
authors.lastname: Mathieu
authors.forename: J C
authors.initials: JC
authors.lastname: Kaplan
authors.forename: A
authors.initials: A
authors.lastname: Kitzis
mesh_terms: D015139:Blotting, Southern; D003550:Cystic Fibrosis / Q000235:genetics*; D004247:DNA / Q000032:analysis / Q000235:genetics; D015342:DNA Probes; D005817:Genetic Counseling; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D010375:Pedigree; D012307:Risk Factors
chemical_list: D015342:DNA Probes; D004247:DNA