杭州市儿童群体地中海贫血基因突变类型分析

Analysis of the thalassemia gene mutation types among children in Hangzhou

目的分析杭州地区地中海贫血患儿的基因突变类型和比例,了解本地区地中海贫血基因的流行情况,为今后由于人口流动、早期筛查及遗传咨询预防等原因造成的基因型动态变化提供参考依据,对于地中海贫血的防治具有参考意义。方法利用荧光PCR对常见的α-珠蛋白和β-珠蛋白基因缺失和突变进行检测。结果共检出277例地中海贫血,α-地中海贫血141例,其中--^(SEA)/αα基因型85.11%(120/141)、-α^(3.7)/αα基因型7.80%(11/141)、-α^(3.7)/--^(SEA)基因型4.26%(6/141)。β-地中海贫血132例,其中CD41-42(-TTCT)突变基因型36.36%(48/132)、IVS-Ⅱ-654(C>T)突变基因型31.82%(42/132)、CD17(A>T)突变基因型17.42%(23/132),且检出α-及β-珠蛋白基因双突变4例。结论本地区地中海贫血患儿基因突变类型多样,本文对指导未来优生优育具有参考意义。

Objective To analyze the types and proportions of gene mutations in children with thalassemia in Hangzhou area,understand the prevalence of thalassemia genes in the local area,and provide reference for the dynamic changes in genotype caused by population mobility,early screening,and genetic counseling prevention in the future.This has reference significance for the prevention and treatment of thalassemia.Methods Detect gene deletions and mutations of α-globin and β-globin by fluorescence PCR.Results 277 cases of thalassemia were detected.There are a total of 141 cases of α-thalassemia,including--^(SEA)/ααgenotype 85.11%(120/141),-α^(3.7)/ααgenotype 7.80%(11/141),-α^(3.7)/--^(SEA)genotype 4.26%(6/141).There were 132 cases of β-thalassemia,including CD41-42(-TTCT)mutant genotype 36.36%(48/132),IVS-Ⅱ-654(C>T)mutant genotype 31.82%(42/132),and CD17(A>T)mutant genotype 17.42%(23/132).In addition,four cases of α-globin and β-globin gene mutations were detected.Conclusion The genotype of thalassemia among children in this region are diverse,which has reference significance for guiding future eugenics.