Two novel mutations in the 3 ' untranslated region of the beta-globin gene that are associated with the mild phenotype of beta thalassemia

BILGEN T., CLARK O. A., OZTURK Z., YESILIPEK M. A., KESER İ.

INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, cilt.35, sa.1, ss.26-30, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 35 Sayı: 1
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1111/j.1751-553x.2012.01456.x
  • Dergi Adı: INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.26-30
  • Anahtar Kelimeler: HBB, beta-globin, 3 ' UTR, mutation, intermedia, HEMOGLOBIN, INTERMEDIA
  • Akdeniz Üniversitesi Adresli: Evet

Özet

Introduction: There are approximately 800 different genomic alterations of the beta-globin gene described in the human hemoglobin variant (HbVar) database. In this study, we have identified two novel putative mutations (HBB:c.*+108 A>G and HBB:c.*+132 C>T) in the 3' untranslated region (3'-UTR) of the beta-globin gene and describe their clinical implications.