福州地区153例地中海贫血基因突变类型、频率及产前诊断研究

Study on Type of Gene Mutation and Frequency in 153 Patients with Thalassemia for Prenatal Diagnosis in Fuzhou

[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 study the type of gene mutation and frequency with thalassemia for prenatal diagnosis in Fuzhou. [Methods] The type of gene mutation and frequency in 241 suspected thalassemia patients were analyzed by PCR and reverse dot blot （RDB）, prenatal diagnosis was carried out with 4 couple carried -^SEA/α athalassemia. [Results] The positive rate of thalassemia was 63.5% （153/241）. Totally 69 cases were α-talassemia （53 cases of -^SEA/αα,3 cases of rightward deletion type and 10 cases of -α^3.7/-^SEA） and 82 cases were β-talassemia （41 cases of IVS2nt654 heterozygote,28 cases of CD41-42 heterozygote, 4 cases of CD17 heterozygote, 2 cases of CD41-42/IVS2nt654 double heterozygote,4 cases of -28 heterozygote,2 cases of 27/28 heterozygote and 1 cases of CD 26 heterozygote）. Two cases were α-β complex talassemia. Three cases were found -^SEA/-^ SEA in 4 couple. [Conclusion] The type of gene mutation and frequency in α and β thalassemia were found out in Fuzhou. Gene mutation screening and prenatal diagnosis of thalassemia should be carried out for baby health.