中文摘要：

目的探讨改良葡萄糖-6-磷酸脱氢酶（G6PD）/6-磷酸葡萄糖酸脱氢酶（6PGD）比值与α、β地中海贫血基因诊断的相关性。方法利用跨跃断裂点聚合酶链反应（gap-PCR）结合单管多重PCR以及PCR-反向斑点杂交法（RDB）技术对182例孕妇分别进行α地中海贫血（--SEA、-α3.7、-α4.2缺失型突变）和β地中海贫血基因（17种常见的点突变）检测,并将其分为α地中海贫血组、β地中海贫血组、α复合β地中海贫血组和健康对照组。利用全自动生化分析仪检测各组红细胞G6PD/6PGD。结果单纯α地中海贫血患者缺失型突变类型的构成比依次为--SEA/αα（54.17%）、αα/-α4.2（20.83%）、αα/-α3.7（12.50%）、--SEA/-α4.2（8.33%）、--SEA/-α3.7（4.17%）。β地中海贫血患者基因分布情况依次为CD41-42-TTCT（33.33%）、CD17 A→T（20.51%）、IVS-Ⅱ-654C→T（20.51%）、-28A→G（12.82%）、CD27-28＋C（5.13%）、βE GAG→AAG（5.13%）、CD43G→T（2.56%）。α地中海贫血组、β地中海贫血组及α复合β地中海贫血组的红细胞G6PD/6PGD比值分别为1.69±0.39、1.66±0.32及1.70±0.27,均显著高于健康对照组（1.36±0.26,P〈0.05）;α地中海贫血组、β地中海贫血组及α复合β地中海贫血组的G6PD/6PGD差异无统计学意义（P〉0.05）。结论 G6PD/6PGD测定对地中海贫血初筛有一定的应用价值。

英文摘要：

Objective To investigate the correlation of glucose-6-phosphate dehydrogenase（G6PD）/6-phosphaogluconate dehy- drogenase（6PGD）ratio and genetic diagnosis ofα,β-thalassemia.Methods Gap-polymerase chain reaction（gap-PCR）combined with single-tube multiplex PCR and PCR-reverse dot blot（RDB）techniques were employed to detectαthalassemia gene（--SEA,-α3.7,-α4.2 deletion mutants）andβthalassemia gene（17kinds of common point mutations）of 182pregnant women which were divided intoαthalassemia group,βthalassemia group,αandβthalassemia group and control group.Automatic biochemical analyzer was employed to assay G6PD/6PGD of red blood cells in each group.Results The constituent ratios of deletion mutation of pa- tients with pureαthalassemia were--SEA/αα（54.17%）,αα/-α4.2（20.83%）,αα/-α3.7（12.50%）,--SEA/-α4.2（8.33%）,--SEA/-α3.7（4.17%）in sequence.The genetic distribution of patients withβthalassemia were CD41-42-TTCT（33.33%）,CD17 A→T（20.51%）,IVS-Ⅱ-654C→T（20.51%）,-28A→G（12.82%）,CD27-28＋C（5.13%）,βE GAG→AAG（5.13%）,CD43G→ T（2.56%）in sequence.The G6PD/6PGD ratios of red blood cells inαthalassemia group,βthalassemia group,αandβthalassemia group were 1.69±0.39,1.66±0.32and 1.70±0.27,respectively,which were all significantly higher than that in control group（1.36±0.26,P〈0.05）.Differences of G6PD/6PGD amongαthalassemia group,βthalassemia group,αandβthalassemia group showed no statistical significance（P〈0.05）.Conclusion G6PD/6PGD determination has a certain application value for preliminary screening of thalassemia.