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

作者：Makukh Halyna; Krenkova Petra; Tyrkus Marta; Bober Lyudmyla; Hancarova Miroslava; Hnateyko Oleh; Macek Milan Jr^*

来源：Journal of Cystic Fibrosis, 2010, 9(5): 371-375.

DOI：10.1016/j.jcf.2010.06.001

• Cystic fibrosis (OMIM 219700)
• CFTR gene
• Genotype phenotype correlations
• Western Ukraine
• 2184insA
• DNA diagnostics
• Newborn screening
• Sequencing

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.

• 出版日期2010-9