Single nucleotide polymorphisms of β-globin gene in β-thalassaemia patients / 中国实验血液学杂志
Journal of Experimental Hematology
;
(6): 1220-1223, 2010.
Article
Dans Chinois
| WPRIM
| ID: wpr-332389
ABSTRACT
This study was aimed to analyze the β-globin gene sequence and single nucleotide polymorphisms of the β-globin gene in β-thalassaemia patients from Shenzhen area, and to explore linkage relationships between β-globin gene mutations and single nucleotide polymorphisms. Genomic DNA was extracted from peripheral leukocytes in 125 β-thalassaemia patients from Shenzhen population. β-globin gene was amplified by polymerase chain reaction, mutations and single nucleotide polymorphisms in the β-globin gene were determined by DNA sequencing. The results indicated 10 types of mutation and 12 single nucleotide polymorphism loci were found in the β-globin gene of 114 β-thalassaemia patients. Linkage disequilibrium between mutations and single nucleotide polymorphisms was found in 6 loci including 6 haplotypes among these single nucleotide polymorphism loci in the β-globin gene. It is concluded that a number of single nucleotide polymorphisms is found in the β-globin gene, where an average of one single nucleotide polymorphism every 230 bp there is. Linkage disequilibrium occurs between β-thalassaemia mutations and some haplotypes in single nucleotide polymorphism loci. This study may be helpful to gene diagnosis for β-thalassaemia patients.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Haplotypes
/
ADN
/
Études cas-témoins
/
Chine
/
Bêta-Thalassémie
/
Polymorphisme de nucléotide simple
/
Globines bêta
/
Génétique
/
Mutation
Type d'étude:
Étude observationnelle
Limites du sujet:
Adolescent
/
Adulte
/
Enfant
/
Enfant d'âge préscolaire
/
Femelle
/
Humains
/
Mâle
Pays comme sujet:
Asie
langue:
Chinois
Texte intégral:
Journal of Experimental Hematology
Année:
2010
Type:
Article
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