摘要
目的了解海南地区人群中α、β-地贫基因型的分布情况。方法对20450名受检者采用gap-PCR法、PCR-RBD法进行α、β-地贫基因型诊断,进行统计分析。结果20450例受检者中共检出4031例(21.03%)地贫基因携带者。α-地贫3627例(17.74%),共20种基因组合类型,以-α3.7/αα最为常见,其中静止型2419例(66.69%),轻型1144例(31.54%),中间型64例(1.77%)。β-地贫465例(2.27%),共15种基因组合类型,以41-42M/βN最为常见,其中轻型427例(91.83%),中间型34例(7.31%),重型4例(0.86%)。αβ-复合地贫209例(1.02%),共39种αβ-复合地贫基因组合类型,以-α4.2/αα复合41-42M/βN最为常见,其中重型地贫5例(2.40%)。结论海南地贫发生率较高,遗传背景复杂,对海南地区人群进行地贫基因诊断,为地贫的防治提供基础,提高人口素质。
Objective The aim of this study is to investigate the prevalence ofα-thal-assaemia,β-thal-Methods analysis using gap-PCR or PCR-RBD.Results Totally,4031(21.03%)subjects were diagnosed as being carri-ers of thalassaemia,including 3627(17.74%)subjects withβ-thalassaemia,465(2.27%)subjects withβ-thal-assaemia and 209(1.02%)subjects with bothβ-thalassemia andβ-thalassaemia.In theβ-thalassaemia carriers,20 genotypes were identified and-α3.7/ααis the most genotypes,2419(66.69%)subjects with thalassaemia carri-ers,1144(31.54%)subjects with light thalassaemia and 64(1.77%)subjects with intermedia thalassaemia.In theβ-thalassaemia carriers,15 genotypes were characterized and 41-42 M/βN is the most genotypes,427(91.83%)subjects with light thalassaemia,34(7.31%)subjects with intermedia thalassaemia,4(0.86%)subjects with majorthalassaemia.In the bothα-thalassaemia andβ-thalassaemia carriers,39 genotypes were characterized and-α4.2/αα&41-42 M/βN is the most genotypes,5(2.40%)subjects with major thalassemia.ConclusionThere wasgreat heterogeneity and extensive spectrum of thalassemia in Hainan populations.The genetic diagnosis of thalassae-mia in Hainan population provides a basis for the prevention and treatment of thalassaemia in Hainan.
作者
揭秋玲
李崎
孙文页
周繇
陈宏健
黄慧敏
卢伟英
马燕琳
JIE Qiuling;LI Qi;SUN Wenye;ZHOU Yao;CHEN Hongjian;HUANG Huimin;LU Weiying;MA Yanlin(Hainan Provincial Key Labora tory for human reproductive medicine and Genetic Research,The First Affiliated Hospital,Hainan Medical Universi ty,Department of Reproductive Medicine of Hainan Medical University(Department of Reproductive Medicine/Hainan Provincial Clinical Research Center for Thalassemia/Haikou Key Laboratory for Preservation of Human Genetic Re source),Haikou 570102,China;不详)
出处
《实用医学杂志》
CAS
北大核心
2020年第8期1092-1095,共4页
The Journal of Practical Medicine
基金
海南省自然科学基金(创新团队项目)资助项目(编号:2019CXTD408)
海南省重大科技计划资助项目(编号:ZD KJ2017007)
国家自然科学基金资助项目(编号:81660433)
海南省研究生创新科研课题(编号:Hys2019 309)。
