Identification of Hb Hamadan Mutation (beta 56 GGC -> CGC, (D7) Gly -> Arg) which was detected in Cukurova Region for the First Time with Microarray Method


ARIYUREK S. Y. , YILDIZ S. M. , Aksoy K.

TURKISH JOURNAL OF BIOCHEMISTRY-TURK BIYOKIMYA DERGISI, cilt.34, ss.256-259, 2009 (SCI İndekslerine Giren Dergi) identifier

  • Cilt numarası: 34 Konu: 4
  • Basım Tarihi: 2009
  • Dergi Adı: TURKISH JOURNAL OF BIOCHEMISTRY-TURK BIYOKIMYA DERGISI
  • Sayfa Sayıları: ss.256-259

Özet

Hemoglobin Hamadan is the result of a glycine to arginine change due to GGC. CGC mutation at codon 56 of the beta globin gene. Until today, together with HbS which is the most common mutation in Turkey, fourty nine abnormal hemoglobin mutations have been reported such as rarely observed Hb Hamadan which does not show any clinical symptom. In this study, for the first time, we designed a reporter to Hb Hamadan for Nanogen microarray instrument, by using the base change causing to the mutation of a case which was determined to have an abnormal hemoglobin by sequence analysis. Heterozygous Hemoglobin Hamadan and Hemoglobin Hamadan combined with IVS I-110 mutation was found by using the designed reporter.