摘要
目的基于大规模人群数据调查中山地区地中海贫血基因携带率及基因型分布特征。方法 2009年-2013年在本院产前诊断中心做地中海贫血基因检测的75 547例样本[前期已做血常规筛查,平均红细胞体积(MCV)<82 fl或平均红细胞血红蛋白含量(MCH)<27 pg纳入研究对象],采用多重PCR技术检测3种缺失型α-地中海贫血,反向斑点杂交法检测3种非缺失型α-地中海贫血以及17种β-地中海贫血的基因突变。结果共检出α-地中海贫血15 328例,β-地中海贫血8 037例。最常见的α-地中海贫血与β-地中海贫血基因型分别为--SEA/αα、CD41-42/N。在血常规异常(MCV<80 fl,MCH<27 pg)样本中,总地中海贫血基因阳性检出率为30.93%(23 365/75 547);α-地中海贫血和β-地中海贫血的检出率分别为20.29%(15 328/75 547)、10.64%(8 037/75 547)。结论中山市地中海贫血基因携带率高,表型复杂,应加强地中海贫血基因的筛查力度,做好地中海贫血基因的预防控制工作。
Objective To investigate the thalassemia gene carrying rate and the genotypes distribution based on the investigation data of large- scale populations in Zhongshan region. Methods 75 547 cases of samples received thalassemia genetic testing in the prenatal diagnosis center of our hospital from 2009 to 2013[the routine blood test of the samples have been done,samples with the mean corpuscular volume（ MCV） 〈82 fl or mean corpuscular hemoglobin（ MCH）〈 27 pg were included in the study],the multiplex PCR technique was used to detect the three kinds of α- thalassemia with deletion,the reverse dot blot hybridization was used to detect the three kinds of α- thalassemia with non- deletion and 17 kinds of β- thalassemia with mutations.Results A total of 15 328 cases of α- thalassemia and 8 037 cases of β- thalassemia were detected. The most common genotypes of α- thalassemia and β- thalassemia were--SEA/ αα and CD41- 42 / N. Within the samples which have a unusual routine blood test result（ MCV） 〈80 fl,MCH 〈27 pg）,the total positive rate of thalassemia gene was 30. 93%（ 23 365 /75 547）; the detection rates of α- thalassemia and β- thalassemia were 20. 29%（ 15 328 /75 547） and 10. 64%（ 8 037 /75 547） respectively.Conclusion The carrying rate of thalassemia gene was high in Zhongshan region,and the genotype was complex,the screening intensity of the thalassemia gene should be strengthened,so we can do the prevention and control of thalassemia gene better.
出处
《中国卫生检验杂志》
CAS
2015年第14期2419-2421,2432,共4页
Chinese Journal of Health Laboratory Technology
基金
中山市科技计划项目(青年重点项目)(2014A1FC002)
关键词
地中海贫血
基因型
调查
Thalassemia
Genotype
Investigation
