657del5 mutation of the Nijmegen breakage syndrome gene (NBS1) in the Turkish population

Tekin M., Akcayoz D., Ucar C., Gulen H., Akar N.

HUMAN BIOLOGY, vol.77, no.3, pp.393-397, 2005 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 77 Issue: 3
  • Publication Date: 2005
  • Doi Number: 10.1353/hub.2005.0056
  • Journal Name: HUMAN BIOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.393-397
  • Keywords: founder effect, Nijmegen breakage syndrome, NBS1, Slavs, Turks
  • Ankara University Affiliated: No

Abstract

The 657de15 mutation of the NBS1 gene has been demonstrated in most patients with Nijmegen breakage syndrome (NBS). We identified four Turkish families in which probands were diagnosed as having NBS and found to be homozygous for the 657de15 mutation. The 657de15 allele in the four Turkish families had a single origin.