海南省836例新生儿葡萄糖-6-磷酸脱氢酶缺乏症患者基因突变型分析

Analysis on gene mutation types of 836 neonates with G6PD deficiency in Hainan province

目的:分析海南省836例新生儿葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症患者的基因突变类型,探讨G6PD各种突变型的发生率。方法:应用ARMS法筛查海南省836例新生儿G6PD缺乏症的G1376T、C1388A和A95G三种常见突变位点;采用DNA测序技术鉴定未知突变标本G6PD基因外显子2至外显子13的基因突变类型。结果:在836例G6PD缺乏症患者中,检出G1376T 389例(46.53%)、G1388A 236例(28.23%)、G1376T复合G1388A突变23例(2.75%)、A95G 51例(6.10%)、G392T 44例(5.28%)、T517C 3例(0.36%)、C1024T 9例(1.08%)、C1311T 8例(0.96%)、C1311T复合IVSⅡT93C突变29例(3.47%)、G871A复合C1311T&IVSⅡT93C突变20例(2.39%)、IVSⅣC134T 1例(0.12%),其余23例(2.75%)标本未发现突变。结论:G1376T和G1388A是海南省新生儿中最常见的基因突变型;在海南省G6PD缺乏症患儿中所有G871A突变全部复合C1311T&IVSⅡT93C突变;在G6PD缺乏症患儿中首次报道IVSⅣC134T突变型。

Objective： To analyze gene mutation types of 836 neonates with glucose- 6 -phosphate dehydrogenase （G6PD） deficiency in Hainan province, explore the incidence rates of gene mutation types of G6PD deficiency. Methods： ARMS method was used to screen three common mutation sites （G1376T, C1388A and A95G） in 836 neonates with G6PD deficiency in Hainan province, DNA sequencing was used to identify gene mutation types of exons 2 - 13 of G6PD gene in unknown mutation samples. Results： Among 836 neonates with G6PD deficiency, 389 neonates （46. 53% ） with G1376T, 236 neonates （28. 23% ） with G1388A, 23 neonates （2. 75% ） with G1376T combined with G1388, 51 neonates （6. 10% ） with A95G, 44 neonates （5.28%） with G392T, 3 neonates （0. 36% ） with TS17C, 9 neonates （ 1.08% ） with C1024T, 8 neonates （0. 96% ） with C1311T, 29 neonates （3.47%） with C1311T combined with IVS Ⅱ T93C, 20 neonates with （2. 39% ） G871A combined with C1311T and IVS Ⅱ T93C, 1 neonate （0. 12% ） with IVSⅣ C134T were identified. No mutation was found in the other 23 neonates （2. 75% ） . Conclusion： G1376T and G1388A are the most common gene mutation types in neonates in Hainan province. All the investigated neonates with G871A mutation were accompanied with C1311T and IVS Ⅱ T93C mutations in Hainan province. IVSIV C134T mutation type is first reported in neonates with G6PD deficiency.