Identification of Four Novel Delta-Globin Gene Mutations in Greek Cypriots Using Polymerase Chain Reaction and Automated Fluorescence-Based DNA Sequence Analysis

摘要: The molecular basis of most beta-thalassemia syndromes has been defined, while the spectrum mutations causing delta-thalassemia is not well characterized. In an attempt to identify such mutations, region encompassing delta-globin gene from three Greek Cypriot families suspected having was amplified by polymerase chain reaction (PCR), and DNA sequence determined using automated fluorescence-based sequencer. Four novel were identified: a G----T change at codon 27 that results in alanine serine change; C----T 116 converting arginine cysteine; T----C 141 leucine proline; AG----GG consensus 3'-acceptor site IVS-2. While latter clearly thalassemic mutation, low hemoglobin A2 first may be due either decreased production or instability altered chain. All four detected PCR amplification genomic followed restriction enzyme digestion. Two abolish sites two create new cleavage sites. Screening for defects cause unstable digestion will lead correct diagnosis beta/delta-thalassemia compound heterozygotes improved genetic counseling.