葡萄糖-6-磷酸脱氢酶基因突变检测方法

葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症是人类最常见的遗传性细胞酶病,其本质是基因突变。随着医学分子生物学的发展,许多检测方法已被应用于G6PD基因突变的检测,例如等位基因特异性寡核苷酸探针斑点杂交法、反向点杂交法、基因芯片技术、聚合酶链反应/限制性内切酶分析、突变特异性扩增系统、飞行时间质谱、单链构象多态性分析、变性梯度凝胶电泳、DNA直接测序法、变性高效液相色谱、毛细管电泳法等。

Research Progress on the Detection Methods of Glucose-6-phosphate Dehydrogenase Gene Mutation

Glucose-6-phosphate dehydrogenase （G6PD）deficiency is the most common human genetic disease of cellular enzyme, the pathogenesis of the disease is single gene mutation. With the development of medical molecular biology,many methods have been applied to the detection of G6PD gene mutations, such as allele specific oligonucleotide, reverse dot blot, gene chip, restriction enzyme analysis, amplification refractory mutation system, MALDI-TOF-MS, single strand conformation polymorphism analysis, denaturing gradient gel electrophoresis, DNA sequencing, denaturing high performance liquid chromatography and Multi-mutational analysis.