Single nucleotide polymorphisms of β-globin gene in β-thalassaemia patients.
- Author:
Shun-Chang SUN
1
;
Jian-Hua CAO
;
Ling GUO
;
Yun-Sheng PENG
;
Jing-Bo HE
Author Information
1. Department of Clinical Laboratory Examination, Baoan District People Hospital, Shenzhen 518101, Guangdong Province, China. shunchangsun@yahoo.com.cn
- Publication Type:Journal Article
- MeSH:
Adolescent;
Adult;
Case-Control Studies;
Child;
Child, Preschool;
China;
DNA;
genetics;
Female;
Haplotypes;
Humans;
Male;
Middle Aged;
Mutation;
Polymorphism, Single Nucleotide;
Young Adult;
beta-Globins;
genetics;
beta-Thalassemia;
genetics
- From:
Journal of Experimental Hematology
2010;18(5):1220-1223
- CountryChina
- Language:Chinese
-
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.
