成人葡萄糖6-磷酸脱氢酶活性值增高在地中海贫血诊断中的意义  

The diagnosis value of thalassemia on an increased G6PD enzyme activity in adult

作　　者：陈亮[1] 钟志成[1] 周伟宁[1] 梁驹卿[1] 秦丹卿[1] 骆明勇[1] 何天文[1] 

机构地区：[1]广东省妇幼保健院产前诊断与遗传病诊疗中心,广州511442

出　　处：《中华临床医师杂志（电子版）》2014年第3期32-34,共3页Chinese Journal of Clinicians(Electronic Edition)

摘　　要：目的分析成人地中海贫血常见基因型患者葡萄糖6-磷酸脱氢酶(G6PD)酶活性改变情况,探讨G6PD酶活性改变在地中海贫血诊断的意义。方法用速率法检测G6PD酶活性,用GAP-PCR法检测α地中海贫血基因,反向点杂交(RDB)法检测β地中海贫血基因。结果不同基因型地中海贫血其G6PD酶活性增高不同。与正常人群平均值相比,其中α地中海贫中静止型增高1.1倍,轻型增高1.3倍,中间型(血红蛋白H病)增高1.8倍。β地中海贫血中IVS-II-654/βA、βCD17/βA、βCD71-72/βA、βCD41-42/βA四种突变类型其G6PD酶升高增高1.5倍,β-28/βA、β26/βA(血红蛋白E病)基因突变类型其G6PD酶活性增高1.2倍。结论成人地中海贫血患者的G6PD酶活性明显增高,G6PD酶活性增高可作为地中海贫血辅助诊断的参考指标。Objective Through analyzing variety of adult G6PD enzyme activity among common thalassemia gene result, to find a relationship between thalassemia and G6PD enzyme activity. Methods G6PD enzyme activity result was tested with kinetic rate method, and the α thalassemia and β thalassemia samples were confirmed by GAP-PCR or reverse dot blotting method. Results The enzyme activity range of G6PD varied among different thalassemia genes. Compare to the normal group test result, the stationary, minor and intermediate α thalassemia group had a 1.1, 1.3 and 1.8 fold increase respectively, and the gene type of βIVS-II-654/βA, βCD17/βA, βCD71-72/βA, βCD41-42/βA among β thalassemia had a 1.5 fold increase, the gene type of β-28/βA, β26/βA among β thalassemia had an increase of 1.2 fold. Conclusion G6PD enzyme activity test result among adult has a significant increase than normal group. A variety of increase G6PD enzyme activity in adult could be a reference value to α or β thalassemia.

关 键 词：地中海贫血 G6PD酶活性 GAP-PCR 反向点杂交 

分 类 号：R556[医药卫生—血液循环系统疾病]