- 作者: May Fouad George Sadiq
- 中文摘要: Quantitation of fetal hemoglobin (Hb F) and quantitation of it's .gammar. chain composition is important for the identification of different hemoglobinopathies. This is the first study done on the Jordanian newborns to test the hematological data and the gamma globin chain variants. A total of 52 randomly selected healthy Jordanian newborns were examined. The quantitation of the G.gammar. and A.gammar. chains combined with gene mapping using XmnI digestion, were used in the identification of one case of G.gammar. triplication among the studied samples. A family study of this case showed that adults carrying one copy of this G.gammar. triplication (13Kb XmnI fragment) had normal levels of HbF (< 1%) and high levels of G.gammar. (> 80%) while no homozygotes were detected. The remaining 51 newborns had normal frequency values of G.gammar. and A.gammar. chains. The frequency of the A.gammar.T chain among the 52 samples was 0.22. No abnormal .alpha. or .beta. chain variants were detected except for one case of HbS.
- 英文摘要: --
- 中文關鍵字: gamma gene, hemoglobin F, hemoglobin S, gene triplication
- 英文關鍵字: --