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.
Artigo
em Chinês
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Haplótipos
/
DNA
/
Estudos de Casos e Controles
/
China
/
Talassemia beta
/
Polimorfismo de Nucleotídeo Único
/
Globinas beta
/
Genética
/
Mutação
Tipo de estudo:
Estudo observacional
Limite:
Adolescente
/
Adulto
/
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Journal of Experimental Hematology
Ano de publicação:
2010
Tipo de documento:
Artigo
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