240例地中海贫血基因突变类型分析

目的了解广西南宁地区α与β地中海贫血(地贫)的基因突变类型和频率。方法用聚合酶链反应(PCR)和反向斑点杂交(Reverse dot blot,RDB)技术对240例疑诊为地贫基因携带者进行地贫基因分析。结果240例中,检出α地贫127例,其中70例为东南亚缺失型杂合子(--SEA/αα)、右缺失型杂合子(-α3.7/αα)5例、左缺失型杂合子(-α4.2/αα)25例、HbConstant Spring(HbCS)21例、HbQuong Sze(HbQS)2例、Hb Westmead(HbWS)4例。β地贫53例,IVS1-1杂合子3例,CD41-42杂合子24例,CD17杂合子11例,-28杂合子6例,CD654杂合子3例,CD43杂合子2例,CD71-72杂合子4例;α与β复合地贫18例。结论初步阐明广西地区人口中的α与β地贫的基因突变类型和频率,为本地区的地贫基因检测业务提供了理论依据。

Analysis on Gene Mutation Types and Frequencies of 240 Cases of Thalassemia

Objective To explore the gene mutation types and frequencies of α-thalassemia and β-thalassemia in Guangxi.Methods The gene mutation types and gene frequencies of 240 suspected thalassemia patients were analyzed by polymerase chain reaction （PCR） and reverse dot blot （RDB）.Results Among the 240 cases,127 cases wereα-talassemia,including 70 cases of--SEA/αα,5 cases of-α3.7/αα rightward deletion type,25 cases of-α4.2/αα,21 cases of HbCS,2 cases of HbQS,and 4 cases of HbWS.53 cases were β-thalassemia,including 3 cases of IVS1-1 heterozygote,24 cases of CD41-42 heterozygote,11 cases of CD17 heterozygote,6 cases of-28 heterozygote,3 cases of CD654 heterozygote,2 cases of CD43 heterozygote,and 4 cases of CD71-72.18 cases were α-and β-complex thalassemia.Conclusions The gene mutation types and frequencies of α-thalassemia and β-thalassemia among the population of Guangxi are preliminarily clarified,and these results provide a theoretical basis for the genetic testing services of thalassemia in this region.