Analysis for single nucleotide polymorphisms of beta-globin gene in beta-thalassaemia carriers / 临床检验杂志

Objective To investigate the single nucleotide polymorphisms(SNP) of beta-globin gene in beta-thalassaemia carrier.Methods The target fragment of beta-globin gene in beta-thalassaemia carriers was first amplified using PCR,the single nucleotide polymorphisms were determined by the automatic DNA sequencing.Results Three single nucleotide polymorphisms were found in the amplified fragment of beta-globin gene from beta-thalassaemia carriers.They were respectively the T/C polymorphism at nucleotide 59 in exon 1,the G/C polymorphism at nucleotide -16 in intron 2,and the T/G polymorphism at nucleotide-74 in intron 2.Conclusion There are some differences in the single nucleotide polymorphisms of the beta-globin gene between beta-thalassaemia carriers and normal subjects.The number of single nucleotide polymorphisms among beta-thalassaemia carriers is lesser.The frequency of bases is also different between beta-thalassaemia carriers and normal subjects.