Cystic fibrosis patients from the black sea region: The 1677delTA mutation

Angelicheva D., Boteva K., Jordanova A., Savov A., Kufardjieva A., Tolun A., ...More

Human Mutation, vol.3, no.4, pp.353-357, 1994 (Scopus) identifier identifier

  • Publication Type: Article / Article
  • Volume: 3 Issue: 4
  • Publication Date: 1994
  • Doi Number: 10.1002/humu.1380030405
  • Journal Name: Human Mutation
  • Journal Indexes: Scopus
  • Page Numbers: pp.353-357
  • Keywords: Cystic fibrosis, Genotype/phenotype correlation, Mutation, Population genetics of CF
  • Çanakkale Onsekiz Mart University Affiliated: No


A 2 bp deletion in exon 10 of the CFTR gene, 1677delTA, which is very rare among CF chromosomes worldwide, was found to be a relatively common cause of cystic fibrosis in countries located in the region of the Black Sea. The frequency of the mutation was compared among cystic fibrosis patients from several populations, namely Bulgarians, Turks, Greek‐Cypriots, Georgians, and Russians. The deletion is most common among Georgian CF patients and gradually declines in frequency in neighbouring populations. It is invariably related to a common polymorphic haplotype which is rare among normal chromosomes in Bulgaria but was found to be common in Turkey. The geographic gradient in the frequency of the mutation, along with findings on polymorphic haplotype distribution, suggest that the mutation is relatively young in evolutionary terms and spread as the result of west and south‐bound migrations originating from Georgia. The 1677delTA mutation is related to a severe clinical phenotype with a high early mortality rate among homozygotes and possibly to an increased risk of meconium ileus. © 1994 Wiley‐Liss, Inc. Copyright © 1994 Wiley‐Liss, Inc., A Wiley Company