A high frequency of the Cystic Fibrosis 2184insA mutation in Western Ukraine: genotype-phenotype correlations, relevance for newborn screening and genetic testing.

doi:10.1016/j.jcf.2010.06.001

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Article

A high frequency of the Cystic Fibrosis 2184insA mutation in Western Ukraine: genotype-phenotype correlations, relevance for newborn screening and genetic testing.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Sept 2010

Makukh Halyna, Krenková Petra, Tyrkus Marta, Bober Lyudmyla, Hancárová Miroslava, Hnateyko Oleh, Macek Milan

Abstract excerpt

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...

Topics

Adolescent
Adult
Alleles
Child
Child, Preschool
Cohort Studies
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Female
Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Testing

Homozygote

Humans

Infant, Newborn

Male

Mutation

Neonatal Screening

Ukraine

Source

Open in PubMed

Identifiers

PMID: 20659818
DOI: 10.1016/j.jcf.2010.06.001

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