地中海贫血基因检测的研究进展

Study Progress of Gene Detection of Thalassemia

地中海贫血是一组高度异质性的遗传性溶血性疾病。它是由于珠蛋白基因突变,使珠蛋白生物合成受阻、产量不足或缺如所致。我国对地中海贫血的基因诊断和产前诊断始于20世纪80年代初,先后经历了DNA点杂交、限制性内切酶酶谱分析、限制性片段长度多态性(RFLP)连锁分析、寡核苷酸(ASO)探针杂交和PCR体外基因扩增等阶段,特别是PCR技术的不断发展和改进,使地贫基因诊断检测技术日趋成熟。目前,在应用于这种高度异质性遗传病的各种分子诊断方法中,快速简便的基因芯片技术引人注目。

Thalassemia is considered a kind of heritable hemolytic disease with high heterology, which is caused by deficiency or lack of globin resulting from the blockage of biosynthesis of globin as well as globin gene mutation.The genie diagnosis and antenatal diagnosis of Thalassemia was first started in early 80s in China. Since that it has experienced several periods from DNA dot hlot,zymogram analysis of restricted enzyme.linkage analysis of restriction fragment length polymorphism, blotting of ASO probe, and gene amplification in vitro using PCR, in which especially the development and progress of PCR technique bring mature to gene diagnosis of this disease. At present, gene chip with simple and quick is attracting more attention among various molecular diagnosis method applied in heritable disease with high heterology.