261例G6PD缺乏症患儿基因突变型与血型关系的探讨

摘要

目的:初步探讨ABO血型与葡萄糖-6-磷酸脱氢酶(glucose-6-phosphate dehydrogenas,G6PD)缺乏症基因突变型的交互作用及分析.方法:从G6PD缺乏症患者中,运用二代测序技术筛选出G1388A、G1376T、A95G点突变的患者;血清学方法检测血型.应用SPSS 21.0软件对结果进行比较分析.结果:355例缺乏症患者中检出261例基因突变,突变检出率为73.5％;且基因突变型在ABO血型的血型分布上有显著差异(P＜0.05),具有相关性.结论:ABO血型与G6PD缺乏症基因突变型之间存在交互关系.%Objective:To study the interaction between mutation genotype and ABO blood group in 261 patients with glucose-6-phosphate dehydrogenase deficiency.Methods:The second generation sequencing technology was used to identify 261 patients with G6PD deficiency and G1388A 、G1376T、A95G mutations.Blood groups were detected with serological method.The interaction effect between blood group and gene mutation was analyzed by SPSS 21.0.Results:Mutations occurred in 261 of 355 patients with G6PD deficiency,the mutation rate was 73.5 ％.There was a significant difference the blood type distribution of ABO blood group and gene mutation (P ＜ 0.05).Conclusion:There is synergistic action between ABO blood group and mutation genotype in G6PD deficiency.