Sun Shun-Chang, Cao Jian-Hua, Guo Ling, Peng Yun-Sheng, He Jing-Bo
Department of Clinical Laboratory Examination, Baoan District People Hospital, Shenzhen 518101, Guangdong Province, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2010 Oct;18(5):1220-3.
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.
本研究旨在分析深圳地区β地中海贫血患者β珠蛋白基因序列及β珠蛋白基因单核苷酸多态性，并探讨β珠蛋白基因突变与单核苷酸多态性之间的连锁关系。从深圳人群125例β地中海贫血患者的外周血白细胞中提取基因组DNA。采用聚合酶链反应扩增β珠蛋白基因，通过DNA测序确定β珠蛋白基因的突变和单核苷酸多态性。结果显示，在114例β地中海贫血患者的β珠蛋白基因中发现了10种突变类型和12个单核苷酸多态性位点。在β珠蛋白基因的这些单核苷酸多态性位点中，有6个位点存在突变与单核苷酸多态性之间的连锁不平衡，包括6种单倍型。结论是，在β珠蛋白基因中发现了多个单核苷酸多态性，平均每230 bp就有一个单核苷酸多态性。β地中海贫血突变与单核苷酸多态性位点中的一些单倍型之间存在连锁不平衡。本研究可能有助于β地中海贫血患者的基因诊断。
