title: Characterization and rapid diagnostic analysis of DNA polymorphisms closely linked to the cystic fibrosis locus.
abstract: Six genetic polymorphisms, closely linked to the cystic fibrosis gene and useful in clinical linkage analysis, have been characterized and converted to a more rapid form of assay. Sequences flanking the metD (Ban I), metH (Msp I), XV-2c (Taq I), KM.19 (Pst I), MP6d-9 (Msp I), and J3.11 (Msp I) polymorphic restriction sites have been determined and used to design specific polymerase chain reaction (PCR) amplification primers and allele-specific oligonucleotide probes. All six of these polymorphisms were found to involve single-base alterations, and the XV-2c polymorphism was found to lie within an Alu repeat segment. These PCR-based tests, in conjunction with the CS.7 (Hha I) assay described elsewhere (Stanier P et al. Hum Genet 1988;80:309-10; Williams C et al. Lancet 1988;ii:102-3), provide a convenient, rapid, and reliable method of haplotype and linkage analysis, clinically useful in those situations where direct detection of mutations is not possible.
authors.affiliation: Department of Genetic Disease Research, Framingham, MA 01701.
authors.forename: G T
authors.initials: GT
authors.lastname: Horn
authors.forename: B
authors.initials: B
authors.lastname: Richards
authors.forename: J J
authors.initials: JJ
authors.lastname: Merrill
authors.forename: K W
authors.initials: KW
authors.lastname: Klinger
mesh_terms: D001483:Base Sequence; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D015342:DNA Probes; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics; D012150:Polymorphism, Restriction Fragment Length; D015183:Restriction Mapping
chemical_list: D015342:DNA Probes