[Single nucleotide polymorphisms of β-globin gene in β-thalassaemia patients].
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.
Department of Clinical Laboratory Examination, Baoan District People Hospital, Shenzhen 518101, Guangdong Province, China. shunchangsun@yahoo.com.cn
Shun-Chang
SC
Sun
Jian-Hua
JH
Cao
Ling
L
Guo
Yun-Sheng
YS
Peng
Jing-Bo
JB
He
D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002681:China; D004247:DNA / Q000235:genetics; D005260:Female; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
D055544:beta-Globins; D004247:DNA