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

[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）。a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（-α^3.7／αα）10例、左缺失型杂合子（-α^4.2／αα）2例、血红蛋白H病4例（-α^3.7／-^SEA3例，-α^4.2／-^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。

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

[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.