title: Frequency of the cystic fibrosis 3199del6 mutation in individuals heterozygous for I148T.
abstract: OBJECTIVE
  To determine the carrier frequency of the 3199del6 cystic fibrosis (CF) mutation in individuals heterozygous for I148T in a large-scale CF testing population.
  
  
  METHODS
  DNA samples from 439 consecutive I148T-heterozygous individuals were screened for the 3199del6 mutation using a laboratory-developed test.
  
  
  RESULTS
  Genotyping revealed four samples heterozygous for the 3199del6 mutation (0.9%). The four samples positive for 3199del6 had an IVS 8 genotype of 7T/9T. The 3199del6 mutation was not observed after genotyping of 348 random, anonymous samples.
  
  
  CONCLUSIONS
  The 3199del6 mutation occurs in 0.9% of individuals positive for the I148T mutation and <0.07% of chromosomes that are wild type for the ACMG panel mutations.
authors.affiliation: Molecular Genetics Department, Nichols Institute, Quest Diagnostics, San Juan Capistrano, California 92690, USA.
authors.forename: Arlene
authors.initials: A
authors.lastname: Buller
authors.forename: Susan
authors.initials: S
authors.lastname: Olson
authors.forename: Joy B
authors.initials: JB
authors.lastname: Redman
authors.forename: Feras
authors.initials: F
authors.lastname: Hantash
authors.forename: Rebecca
authors.initials: R
authors.lastname: Chen
authors.forename: Charles M
authors.initials: CM
authors.lastname: Strom
mesh_terms: D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D017931:DNA Primers; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D020125:Mutation, Missense; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D017931:DNA Primers