title: Cystic fibrosis carrier testing in an ethnically diverse US population.
abstract: BACKGROUND
  The incidence of cystic fibrosis (CF) and the frequency of specific disease-causing mutations vary among populations. Affected individuals experience a range of serious clinical consequences, notably lung and pancreatic disease, which are only partially dependent on genotype.
  
  
  METHODS
  An allele-specific primer-extension reaction, liquid-phase hybridization to a bead array, and subsequent fluorescence detection were used in testing for carriers of 98 CFTR [cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)] mutations among 364 890 referred individuals with no family history of CF.
  
  
  RESULTS
  One in 38 individuals carried one of the 98 CFTR mutations included in this panel. Of the 87 different mutations detected, 18 were limited to a single ethnic group. African American, Hispanic, and Asian individuals accounted for 33% of the individuals tested. The mutation frequency distribution of Caucasians was significantly different from that of each of these ethnic groups (P < 1 × 10⁻¹⁰).
  
  
  CONCLUSIONS
  Carrier testing using a broad mutation panel detects differences in the distribution of mutations among ethnic groups in the US.
authors.affiliation: Molecular Diagnostic Laboratory, Genzyme Genetics, Westborough, MA 01581, USA. Elizabeth.rohlfs@genzymegenetics.com
authors.forename: Elizabeth M
authors.initials: EM
authors.lastname: Rohlfs
authors.forename: Zhaoqing
authors.initials: Z
authors.lastname: Zhou
authors.forename: Ruth A
authors.initials: RA
authors.lastname: Heim
authors.forename: Narasimhan
authors.initials: N
authors.lastname: Nagan
authors.forename: Lynne S
authors.initials: LS
authors.lastname: Rosenblum
authors.forename: Kerry
authors.initials: K
authors.lastname: Flynn
authors.forename: Thomas
authors.initials: T
authors.lastname: Scholl
authors.forename: Viatcheslav R
authors.initials: VR
authors.lastname: Akmaev
authors.forename: D Alexa
authors.initials: DA
authors.lastname: Sirko-Osadsa
authors.forename: Bernice A
authors.initials: BA
authors.lastname: Allitto
authors.forename: Elaine A
authors.initials: EA
authors.lastname: Sugarman
mesh_terms: D000293:Adolescent; D001741:Black or African American; D001208:Asia / Q000208:ethnology; D044466:Asian People; D002489:Central America / Q000208:ethnology; D002648:Child; D003550:Cystic Fibrosis / Q000208:ethnology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D005838:Genotype; D006579:Heterozygote; D006630:Hispanic or Latino; D006801:Humans; D007585:Jews; D008297:Male; D009154:Mutation; D013020:South America / Q000208:ethnology; D014481:United States / Q000453:epidemiology; D044465:White People
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator