Analysis for single nucleotide polymorphisms of beta-globin gene in beta-thalassaemia carriers
- VernacularTitle:轻型?-珠蛋白生成障碍性贫血患者?-珠蛋白基因单核苷酸多态性分析
- Author:
Weidonga CHEN
;
Jianxina LI
;
Jiazhib FANG
- Publication Type:Journal Article
- Keywords:
beta-globin gene;
single nucleotide polymorphism beta-thalassaemia carrier;
DNA sequencing
- From:
Chinese Journal of Clinical Laboratory Science
2006;0(01):-
- CountryChina
- Language:Chinese
-
Abstract:
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.
