Frequency of the cystic fibrosis 3199del6 mutation in individuals heterozygous for I148T.
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.
Buller
Arlene
A
Molecular Genetics Department, Nichols Institute, Quest Diagnostics, San Juan Capistrano, California 92690, USA.
Olson
Susan
S
Redman
Joy B
JB
Hantash
Feras
F
Chen
Rebecca
R
Strom
Charles M
CM
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*
D017931:DNA Primers