温州地区地中海贫血基因突变类型分析

Analysis of thalassemia gene mutation types in Wenzhou

目的:了解温州地区地中海贫血(简称地贫)基因突变类型和构成比,为优生优育提供参考。方法:选取温州医科大学附属第一医院和温州医科大学附属第二医院门诊及住院的疑似地贫患者991例,进行地贫基因突变检测,其中3种缺失型α-地贫采用跨越断裂点PCR(GAP-PCR)法;3种α-地贫点突变和17种常见β-地贫突变采用反向点杂交(RDB)法。结果:991例疑似地贫患者中共检出431例地贫患者,阳性率为43.49%。其中α-地贫155例,最常见的为--SEA/αα缺失(占α-地贫的67.10%);检出β-地贫276例,最常见为CD41-42突变(占β-地贫的35.87%);同时检出αβ复合型地贫基因7例。结论:温州地区的地贫基因突变类型多且复杂,应加强基因诊断,为地贫的遗传咨询和临床诊疗提供参考。

Objective： To investigate the gene mutation type and constituent ratio of thalassemia, so as to provide prenatal and postnatal care. Methods： Nine hundred and ninety one suspected thalassemia patients from the First Affiliated Hospital of Wenzhou Medical University and the Second Affiliated Hospital of Wenzhou Medical University were included. GAP-PCR method and reverse dot blot （RDB） method were adopted to detect 3 common gene deletions in α-gene mutation and 3 point mutation in α-gene mutation, 17 common mutation sites in β-gene mutation. Results： From 991 suspected thalassemia patients, 431 thalassemia cases were detected （43.49%）, including 155 α-thalassemia mutations and 276 β-thalassemia mutations. Southeast Asia deletion--SEA/αα （accounted for 67.10%） was the major types of α-thalassemia mutations. For β-thalassemia patients, the hot spots of mutation was CD41-42 （accounted for 35.87%）. α-thalassemia combined with β-thalassemia were detected in 7 patients. Conclusion： α and β-thalassemia in populations of Wenzhou are complex. In order to provide valuable information with genetic counseling and clinical therapy, it is important to strengthen genetic diagnosis.