Human Genetics

, Volume 102, Issue 2, pp 224–230 | Cite as

Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I)

  • T. Onay
  • O. Topaloglu
  • J. Zielenski
  • N. Gokgoz
  • H. Kayserili
  • Y. Camcioglu
  • H. Cokugras
  • N. Akcakaya
  • M. Apak
  • L.-C. Tsui
  • B. Kirdar
Original investigation

Abstract

In order to determine the spectrum of cystic fibrosis (CF) mutations in the Turkish population, a complete coding region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene including exon-intron boundaries, on 122 unrelated CF chromosomes from 73 Turkish CF families was analysed by denaturing gradient gel electrophoresis and multiplex heteroduplex analysis on MDE gel matrix. In addition to 15 previously reported mutations and 12 polymorphisms, three novel mutations, namely 3172delAC, P1013L and M1028I, were detected. ΔF508 was found to be present on 18.8% of CF chromosomes. The second most common mutation was 1677delTA, with a frequency of 7.3%, followed by G542X and 2183AA→G mutations, with frequencies of 4.9%. These four most common mutations in Turkish CF population account for approximately 36% of mutations. This study could only detect 52.5% of disease-causing mutations in this population; 47.5% of CF alleles remain to be identified, reflecting the high molecular heterogeneity of the Turkish population.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1998

Authors and Affiliations

  • T. Onay
    • 1
  • O. Topaloglu
    • 1
  • J. Zielenski
    • 2
  • N. Gokgoz
    • 1
  • H. Kayserili
    • 3
  • Y. Camcioglu
    • 4
  • H. Cokugras
    • 4
  • N. Akcakaya
    • 4
  • M. Apak
    • 3
  • L.-C. Tsui
    • 2
  • B. Kirdar
    • 5
  1. 1.Bogazici University, Department of Molecular Biology and Genetics, 80815 Bebek, Istanbul, TurkeyTR
  2. 2.Department of Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, CanadaCA
  3. 3.Istanbul University, Division of Medical Genetics, Institute of Child Health, Istanbul, TurkeyTR
  4. 4.Istanbul University, Cerrahpasa Medical School, Department of Pediatrics
  5. 5.Bogazici University, Department of Chemical Engineering, 80815 Bebek, Istanbul, Turkey Tel.: +90-212-263 15 40; ext. 2126, Fax: +90-212-287-24 67, e-mail: kirdar@boun.edu.trTR

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