title: Molecular diagnosis of cystic fibrosis.
abstract: The clinical and pathologic features of patients with cystic fibrosis are summarized, and generalized genotype or phenotype correlations are discussed in this article. Incorporation of modern molecular biologic techniques into a rapid, cost-efficient, and specific diagnostic laboratory test is outlined. The protocol for the multiplex polymerase chain reaction detection of five common cystic fibrosis transmembrane conductance regulator (CFTR) mutations by ASO hybridization is detailed. Neonatal screening and issues involved in the genetic counseling of families at risk for cystic fibrosis are presented. Recommendations for molecular diagnostic testing in cystic fibrosis are made.
authors.affiliation: Department of Pathology and Laboratory Medicine, University of Pennsylvania Medical Center, Philadelphia, USA.
authors.forename: J A
authors.initials: JA
authors.lastname: Kant
authors.forename: T E
authors.initials: TE
authors.lastname: Mifflin
authors.forename: R
authors.initials: R
authors.lastname: McGlennen
authors.forename: E
authors.initials: E
authors.lastname: Rice
authors.forename: E
authors.initials: E
authors.lastname: Naylor
authors.forename: D L
authors.initials: DL
authors.lastname: Cooper
mesh_terms: D001483:Base Sequence; D019411:Clinical Laboratory Techniques; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics / Q000378:metabolism; D004252:DNA Mutational Analysis; D017931:DNA Primers; D015342:DNA Probes; D004591:Electrophoresis, Polyacrylamide Gel; D017353:Gene Deletion; D005817:Genetic Counseling; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008957:Models, Genetic; D008969:Molecular Sequence Data; D015997:Neonatal Screening; D010641:Phenotype; D017422:Sequence Analysis, DNA / Q000379:methods*
chemical_list: C505032:CFTR protein, human; D017931:DNA Primers; D015342:DNA Probes; D019005:Cystic Fibrosis Transmembrane Conductance Regulator