高通量测序技术在湖南省郴州市苏仙、北湖两区11212例孕妇地中海贫血基因筛查中的应用

目的:了解湖南省郴州市苏仙、北湖两区孕妇地中海贫血(简称地贫)携带率、基因突变频率及构成比。方法:采用高通量测序技术对11212例样本进行地贫基因分析。结果:检出地贫患者938例,其中α-地贫618例,β-地贫268例,异常血红蛋白29例,αβ-复合地贫23例,检出率分别为5.51%2.39%、0.26%、0.21%。α-地贫基因突变以--^SEA/αα(40.29%)及-α^3.7/αα(37.7%)为主,β-地贫以β^41-42M/β^N(24.26%)及β^654M/β^N(23.88%)为主。罕见型α、β地贫基因的检出率分别为0.19%(21/11212)、0.53%(59/11212)。结论:郴州市苏仙、北湖两区孕妇地贫基因携带率为8.37%,基因型复杂。高通量测序技术能有效地检出罕见地贫基因及新的基因突变。

Application of Next-Generation Sequencing in Screening of Thalassemia Gene in 11212 Pregnant Women in Suxian and Beihu Districts of Chenzhou City,Hunan Province

Objective:To understand the carrying rate,gene mutation frequency and composition ratio of thalassemia in pregnant women in Suxian and Beihu districts of Chenzhou,Hunan Province.Methods:Thalassemia gene in 11212 samples was analyzed by using Next-Generation Sequencing.Results:Among the 11212 samples,938 were diagnosed as thalassemia,in which 618(5.51%)were diagnosed asα-thalassemia,268(2.39%)asβ-thalassemia,29(0.26%)as abnormal hemoglobin and 23(0.21%)asαβ-thalassemia.The gene mutations of--^SEA/αα(40.29%)and-α^3.7/αα(37.7%)inα-thalassemia were the most common,while forβ-thalassemia,the most commonly gene mutation wereβ^41-42M/β^N(24.26%)andβ^654M/β^N(23.88%).The detection rate of rare typeα,β-thalassemia gene was 0.19%(21/11212),0.53%(59/11212),respectively.Conclusion;The carrying rate of thalassemia in pregnant women is 8.37%in Suxian and Beihu districts of Chenzhou city,and the genotypes are complex.Next-Generation Sequencing can detect rare thalassemia genes and new gene mutations effectively.