北京地区α和β地中海贫血患者基因突变谱分析

Analysis of gene mutation spectrum of α-and β-thalassemia patients in Beijing

目的分析北京协和医院就诊的地中海贫血患者的基因突变类型和频率,为北方地区开展地中海贫血的产前诊断和遗传咨询提供参考借鉴资料。方法采用跨越断裂点PCR(GAP-PCR)检测3种常见缺失型α-地中海贫血。用PCR和反向点杂交(RDB)分别检测α-地中海贫血3种常见点突变及β-地中海贫血17种常见的点突变类型。结果在195例筛查血样中,检出55例α-地中海贫血,包括-SEA、-α3.7、-α4.2、αCSα、αQSα5种突变类型;88例β-地中海贫血,包括IVS-II-654(C→T)、CD41-42(-TTCT)、CD17(A→T)、CD71-72(+A)、-28(A→G)、CD27/28(+C)、IVS-I-1(G→T\\G→A)、βE 8种突变类型。结论北京地区的地中海贫血患者其基因突变类型复杂,且有明显的遗传异质性。

Objective To analyze the prevalence and spectrum of α- and β- thalassemia mutations in outpatients with thalassemia in PUMCH,and to provide reference for prenatal diagnosis and genetic counseling of thalassemia in Beijing. Methods GAP- PCR,PCR and reverse dot blot（ RDB） were adopted to detect the common types of α- and β- thalassemia mutations.Results Fifty- five cases were detected α- thalassemia mutations and eighty- eight cases were detected β- thalassemia from195 blood samples submitted. There were 5 kinds of mutation types in the 55 α- thalassemia mutated genes,they were- SEA,- α3. 7,- α4. 2,αCSα,αQSα. While there were 8 mutation types in the β- thalassemia mutations,they were IVS- II- 654（ C→T）,CD41-42（-TTCT）,CD17（ A→T）,CD71-72（ ＋A）,-28（ A→G）,CD27/28（ ＋C）,IVS-I-1（ G→T／ ／G→A）,βE. Conclusion α-and β-thalassemia in populations of Beijing are complex with significant genetic heterogeneity.