Cystic fibrosis mutation ΔF508 in Finland: other mutations predominate

@article{Kere2006CysticFM,
  title={Cystic fibrosis mutation $\Delta$F508 in Finland: other mutations predominate},
  author={Juha Kere and Erkki Savilahti and Reijo Norio and Xavier Estivill and Albert de la Chapelle},
  journal={Human Genetics},
  year={2006},
  volume={85},
  pages={413-415}
}
SummaryThe frequency of mutation ΔF508 was determined in all 20 Finnish cystic fibrosis (CF) families with living affected children (19 with pancreatic insufficiency). ΔF508 was detected in 18 out of 40 CF chromosomes (45%). At least two different mutations associated with pancreatic insufficiently have occurred in a rare haplotype defined by XV2c, CS.7, KM19 alleles 1 2 2. Geographical clustering of ΔF508 and other mutations suggested that a founder effect and genetic drift have influenced the… 
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Spectrum of mutations in CFTR in Finland: 18 years follow-up study and identification of two novel mutations.
TLDR
Observations of the Finnish CF mutation spectrum fit well with the characteristics of Finland as a population of multiple local founder effects.
Cystic fibrosis in a low-incidence population: two major mutations in Finland
TLDR
Most ΔF508 mutations and all unidentified mutations originated from regions of old and dense settlement in the coastal regions, whereas 394delTT was geographically clustered and enriched in a rural location, consistent with a local founder effect.
Cystic fibrosis in Argentina: The frequency of the ΔF508 mutation
TLDR
In contrast with northern European countries, where populat ions are more homogeneous and the f requency of AF508 is over 70% (Kere et al. 1989), in this country mere detect of this mutat ion does not yield enough information for genetic counsel ing purposes, and this suggests the fo l lowing guidel ines for sub-zero temperatures is recommended.
Cystic Fibrosis in Latin America
TLDR
A National Foundation was created in Argentina to improve care and promote medical-biochemical research in CF in this part of the world in the 1960s, a very important development for Latin American countries where methods to diagnose and treat CF were often lacking.