中国海南省三亚地区地中海贫血基因类型分析  

Genotype Analysis of Patients with Thalassemia in Sanya Area of Hainan Province in China

作　　者：李猛[1] 项松鹤[2] 丁一[1] 刘雯雯[1] 徐媛媛[2] 薄剑[1,2] LI Meng;XIANG Song-He;DING Yi;LIU Wen-Wen;XU Yuan-Yuan;BO Jian(Department of Hematology,Chinese PLA General Hospital,Beijing 100853,China;Department of Hematology,Hainan Branch of Chinese PLA General Hospital,Sanya 572000,Hainan Province,China)

机构地区：[1]解放军总医院血液科,北京100853 [2]解放军总医院海南分院血液科,海南三亚572103

出　　处：《中国实验血液学杂志》2018年第4期1146-1150,共5页Journal of Experimental Hematology

基　　金：解放军总医院临床科研扶持基金项目(2016FC-CXYY-1007);海南自然科学基金面上项目(817351)

摘　　要：目的:研究中国海南省三亚地区人群地中海贫血的基因分布特征,为该地区开展地中海贫血基因筛查及防控工作提供数据支持。方法:采用跨越断点PCR法(GAP-PCR)、反向斑点杂交法(RDB)对1060例地中海贫血疑诊患者进行地中海贫血基因检测分析。结果:在1 060例地中海贫血疑诊患者中共检测出539例地中海贫血基因缺失或突变,总检出率50.85%,其中α地中海贫血基因检出率31.13%(330/1060),β地中海贫血基因检出率15.28%(162/1060),α和β复合型地中海贫血检出率4.43%(47/1060)。α地中海贫血基因型依次为--SEA/αα、-α^(4.2)/αα,HbH病,-α^(3.7)/αα,-α^(3.7)/-α^(4.2),-α^(4.2)/-α^(4.2),-α^(3.7)/-α^(3.7),检出率分别为9.25%、5.94%、5.56%、5.00%、2.36%、1.70%、1.32%。β地中海贫血基因突变依次为CD41-42、CD17、654、CD71-72、IVS-II-654、-28、CD43、-29、βE,检出率分别为9.8%、1.32%、1.23%、1.23%、1.04%、0.37%、0.19%、0.18%、0.09%。α和β复合型地中海贫血基因型中,-α^(3.7)/αα复合CD41-42最为常见,检出率1.70%;其次为-α^(4.2)/αα复合CD41-42,检出率0.94%。结论:中国海南省三亚地区地中海贫血基因突变具有遗传异质性,其基因分布特征与其他地区存在差异,需结合本地区基因分布特点进行地中海贫血基因筛查、产前诊断及防控工作。Objective： To explore the frequency and spectrum of thalassemia gene mutations of the population in Sanya area of Hainan province in China. Methods： The type and frequency of gene mutation in 1060 patients with suspected thalassemia were analyzed by Gap-PCR and reverse dot blot（ RDB）. Results： The detection on mutation of thalassemia gene were found in 539 suspected thalassemia patients,the total detected rate was 50. 85%（ 539/1060）,out of them 330（ 31. 13%） were diagnosed with α-thalassemia,162（ 15. 28%） with β-thalassemia,and 47（ 4. 43%） as carriers of both α and β-thalassemia. In α-thalassemia patients,genotype were as follows in proper order--SEA/αα（ 9. 25%） 、-α^（4. 2）/αα（ 5. 94%）,HbH（ 5. 56%）,-α^（3.7）/αα（ 5. 00%）,-α^（3.7）/-α^（4. 2）（ 2. 36%）,-α^（4. 2）/-α^（4. 2）（ 1. 70%）,and-α^（3.7）/-α3. 7（ 1. 32%）. In β-thalassemia patients,there were 9 gene mutations： CD41-42（ 9. 8%）,CD17（ 1. 32%）,654（ 1. 23%）,CD71-72（ 1. 23%）,IVS-II-654（ 1. 04%）,-28（ 0. 37%）,CD43（ 0. 19%）,-29（ 0. 18%） and βE（ 0. 09%）. In the α and β composite thalassemia there were 12 genotypes. The-α3. 7/αα was the most common genotype co-existed with β-thalassemia（ 1. 70%）,followed by the-α^（4. 2）/αα genotype（ 0. 94%）. Conclusion： The data of this study provide the frequency and the spectrum of thalassemia gene mutations in the sanya area of Hainan province,which can contribute to set up the strategies for the prevention and control of thalassemia in this area.

关 键 词：地中海贫血 基因表型 基因缺失 基因突变 中国海南省 

分 类 号：R556.61[医药卫生—血液循环系统疾病]