A high frequency of the Cystic Fibrosis 2184insA mutation in Western Ukraine: Genotype–phenotype correlations, relevance for newborn screening and genetic testing
Copyright policy )A high frequency of the Cystic Fibrosis 2184insA mutation in Western Ukraine: Genotype–phenotype correlations, relevance for newborn screening and genetic testing
We present the first comprehensive report on the distribution and genotype-phenotype correlations of CF-causing mutations in Western Ukraine (former Galicia). The 2184insA mutation was identified in 17 unrelated CF patients, 2 of whom are homozygotes for this allele. This mutation is associated with the classical form of CF. The high frequency of 2184insA mutation (7.20% of all mutated CF chromosomes) suggests that it is likely of Galician origin, from where it has spread throughout Europe and beyond. The achieved 83.71% mutation detection rate fulfills the minimal pre-requisite for introduction of the "two-tier" (IRT/DNA) newborn screening program.
- Charles University Czech Republic
- Academy of Medical Sciences United Kingdom
- University Hospital in Motol Czech Republic
Pulmonary and Respiratory Medicine, Adult, Male, Adolescent, Cystic Fibrosis, Homozygote, Infant, Newborn, Cystic Fibrosis Transmembrane Conductance Regulator, Cohort Studies, Neonatal Screening, Child, Preschool, Mutation, Humans, Female, Pediatrics, Perinatology, and Child Health, Genetic Testing, Child, Ukraine, Alleles, Genetic Association Studies
Pulmonary and Respiratory Medicine, Adult, Male, Adolescent, Cystic Fibrosis, Homozygote, Infant, Newborn, Cystic Fibrosis Transmembrane Conductance Regulator, Cohort Studies, Neonatal Screening, Child, Preschool, Mutation, Humans, Female, Pediatrics, Perinatology, and Child Health, Genetic Testing, Child, Ukraine, Alleles, Genetic Association Studies
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