G6PD活性检测在地中海贫血诊断中的意义  

The significance of the G6PD activity detection in thalassemia diagnosis.

作　　者：陈冬[1] 陈和平[1] 梁玲[1] 荣卡彬[1] 梁雪冰[1] 

机构地区：[1]广东省人民医院,510080

出　　处：《中国优生与遗传杂志》2007年第1期27-28,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨各种地中海贫血(地贫)患者的G6PD活性范围,寻找地中海贫血与G6PD活性之间的关系。方法用GAP-PCR法检测α-THAL基因;反向点杂交(RDB)法检测β-THAL基因以及家系,来确定用电泳法发现的各种地贫,再用酶活性(紫外法)检测G6PD活性。结果重型β地贫、HBH病、轻型β、轻型α地贫的G6PD活性分别是正常人的3倍以上、2-3倍、2倍、1.5倍。结论G6PD活性增高的程度不同可作为不同类型地贫的辅助诊断参考指标。Objective： To find the relation between thalassemia and activity of G6PD by analyzing the activity variance of G6PD in thalasssemia. Methods ： To confirm samples＇ genotype of thalassemia that discovered in electrophoresis by GAP - PCR and reverse dot - blotting, then to test G6PD activity of them by UV spectronealogy. Results ： In those samples, the activity of the G6PD were 3, 2 - 3, 2, 1.5 times higher in Cooley＇s anemia, hemoglobin H disease, minor β - thalasscrmia, minor α - thalassemia than in normal. Conclusion： The increase degree of the G6PD activity can be used in auxiliary diagnosis of thalassemia.

关 键 词：G6PD活性 辅助诊断 地中海贫血 

分 类 号：R556[医药卫生—血液循环系统疾病]