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[目的]了解福州地区α与β地中海贫血(地贫)的基因突变类型和频率,探讨产前诊断的可行性。[方法]用聚合酶链反应(PCR)和反向斑点杂交(RDB)技术对241例疑诊为地贫患者进行地贫基因分析,对夫妇双方为东南亚缺失型地贫患者进行产前诊断。[结果]地贫患者检出率为63.5%(153/241)。α地贫69例,其中53例为东南亚缺失型杂合子(-SEA/αα),右缺失型杂合子(-α3.7/αα)10例、左缺失型杂合子(-α4.2/αα)2例、血红蛋白H病4例(-α3.7/--SEA3例,-α4.2/--SEA1例);β地贫82例(IVS2nt654杂合子41例,CD41-42杂合子28例,-28杂合子4例,CD17杂合子4例,27/28杂合子2例,CD26杂合子1例,CD41-42/IVS2nt654双重杂合子2例);α与β复合地贫2例。对4对夫妇双方均为东南亚型缺失型地贫基因携带者的孕妇行产前诊断,检出重型地贫3例。[结论]初步阐明福州地区人口中的α与β地贫的基因突变类型和频率,有必要开展地贫基因检测和产前诊断。
[Objective] To understand the gene mutation types and frequencies of α and β thalassemia (thalassemia) in Fuzhou and to explore the feasibility of prenatal diagnosis. [Method] 241 cases of thalassemia were diagnosed as thalassemia by polymerase chain reaction (PCR) and reverse dot blot hybridization (RDB) technique. The genotypes of thalassemia were analyzed and the prenatal diagnosis was performed for both couples with missing thalassemia. [Results] The detection rate of thalassemia patients was 63.5% (153/241). α-thalassemia in 69 cases, of which 53 cases were SEA / αα, 10 cases of right-deficient heterozygotes (-α3.7 / αα), and -1,400 cases of left-deficient heterozygotes (-α4.2 / αα ), Hemoglobin H disease in 4 cases (-α3.7 / - SEA in 3 cases, -α4.2 / - SEA in 1 case), β-thalassemia in 82 cases (IVS2nt654 heterozygous in 41 cases, CD41-42 heterozygote in 28 cases , 4 cases of -28 heterozygotes, 4 cases of CD17 heterozygotes, 2 cases of 27/28 heterozygotes, 1 case of CD26 heterozygotes and 2 cases of CD41-42 / IVS2nt654 double heterozygotes). Prenatal diagnosis was performed on 4 pregnant women who both were carriers of the southeast Asia-type deletion thalassemia gene and 3 cases were diagnosed as severe thalassemia. [Conclusion] It is necessary to carry out genetic testing and prenatal diagnosis of thalassemia in order to elucidate the type and frequency of gene mutations of α and β thalassemia population in Fuzhou population.