Gene mutation detection kit for human glucose-6-phosphate dehydrogenase deficiency disease

The invention relates to a gene mutation detection kit for a human glucose-6-phosphate dehydrogenase deficiency disease. The gene mutation detection kit comprises probes with sequences represented bySEQ NO.1-382. By carrying out distribution analysis on positive mutation sites of 500 G6PD genes in the China area and combining with Human Gene Mutation Database (HGMD) and gene mutation hotspot dataof the European and American areas, gene mutation hotspots are more comprehensively summarized, so that the problems of genetic mutation detection of nearly 99% of patients with a G6PD deficiency disease are solved, and rapid and effective execution of genetic diagnosis of the G6PD deficiency disease is realized. 本发明涉及一种用于人葡萄糖-6-磷酸脱氢酶缺乏症的基因突变检测试剂盒，包括如SEQ NO.1～382所示序列的探针。本发明对中国地区500个G6PD基因阳性突变位点进行分布分析，并结合人类基因突变数据库(Human Gene Mutation Database,HGMD)数据库及欧美地区基因突变热点数据，更全面地总结了G6PD基因突变热点，以解决近99％的G6PD缺乏症患者遗传突变检测问题，实现G6PD缺乏症疾病遗传诊断的快速和有效进行。