贵州黔东南地区育龄人群地中海贫血基因类型分析

目的了解贵州黔东南州育龄人群地中海贫血基因类型及其分布。方法 2017年1月~2019年3月对930例疑似地中海贫血的育龄人群采用PCR结合导流杂交进行α、β地中海贫血基因检测。结果 930例病例中检出地中海贫血422例,检出率45.38%,α地中海贫血193例(20.75%),β地中海贫血212例(22.80%),α复合β地中海贫血23例(1.83%)。12种α地中海贫血基因类型主要为--SEA/αα(67.87%)、-α3.7/αα(9.84%)和-α4.2/αα(7.25%),8种β地中海贫血基因类型以CD41-42/N(61.79%)、CD17/N(26.89%)和IVS-Ⅱ-654/N(6.13%)常见,8种α合并β地中海贫血基因类型主要为-α3.7/CD41-42(41.19%)和--SEA/CD41-42(23.53%)。结论贵州黔东南州β地中海贫血检出率高于α地中海贫血,主要基因类型为CD4142/N和--SEA/αα。

Genotype of thalassemia in people of reproductive age in Qiandongnan

Objective:To understudy the distribution of genotype of thalassemia(thal)in people of reproductive age in Qiandongnan,Guizhou.Methods:930 suspected thal cases had further underwent α and β thalassemia gene detection by using PCR method and flow-through hybridization during January 2017 to March 2019.Results:422 cases were diagnosed as thal among 930 cases,and the incidence rate of thala was 45.38%,including 193(20.75%)cases of α-thal,328(22.80%)cases of β-thal and 17(1.83%)cases of α-thal combined with β-thal.--SEA/αα(67.87%),-α3.7/αα(9.84%)and-α4.2/αα(7.25%)were frequent genotype of 12 types of α-thal.CD41-42/N(61.79%),CD17/N(26.89%)and IVS-Ⅱ-654/N were frequent genotype of 8 types of β-thal.-α3.7/CD41-42(41.19%)and--SEA/CD41-42(23.53%)were the frequent genotype of 8 types of α-thal combined with β-thal.Conclusion:In Qiandongnan,Guizhou,the detection rate of β-thal was higher than that of α-thal,and CD4142/N and--SEA/αα were frequent genotypes respectively.