赣州市城镇居民地中海贫血分子流行病学调查  

Epidemiological survey and molecular characterization of thalassemia in urban population of Ganzhou city,China

作　　者：钟田雨[1] 江丽霞[1] 胡晓梅[1] 方先松[1] 王伟华[1] 黄冬梅[1] 陈志平[1] 刘占钰[1] 胡蓉[1] 

机构地区：[1]赣南医学院第一附属医院检验科,江西赣州341000

出　　处：《临床检验杂志》2014年第9期697-699,共3页Chinese Journal of Clinical Laboratory Science

基　　金：国家自然科学基金(81360265);江西省青年科学基金(20122BAB215006);江西省教育厅科学技术研究项目(GJJ13690)

摘　　要：目的调查赣州市城镇居民地中海贫血（地贫）基因携带率、突变类型及分布特征。方法 2011年8～11月连续采集3 655例赣州市城镇健康体检者外周血进行红细胞参数分析,以平均红细胞体积（MCV）〈82 fL或平均红细胞血红蛋白含量（MCH）〈27 pg为地贫表型阳性筛查指标。阳性标本用导流杂交技术检测5种α-和15种β-珠蛋白基因突变。结果表型筛查阳性标本771例,检出α-地贫246例,β-地贫82例,α-复合β-地贫8例。检出5种α-地贫等位基因-SEA/、-α^3.7/、-α^4.2/、αα^QS/和αα^CS/;检出6种β-地贫突变类型ⅣSⅡ-654（C〉T）、CD41-42（-CTTT）、-28（A〉G）、CD17（A〉T）、CD27-28（＋C）、-29（A〉G）。赣州市城镇居民地贫基因携带率为9.44%,其中α-地贫6.98%,β-地贫2.46%。结论查明赣州市城镇居民地贫的分子流行病学特征,为地贫防控提供了参考资料。Objective To investigate the carrier rate,genotypes of mutation and distribution of thalassemia genes in the urban population of Ganzhou city,Jiangxi,China. Methods A total of 3 655 peripheral blood samples were collected from the urban population accepted health examination program in Ganzhou city from August to November of 2011 and the parameters of red blood cells of all the samples were analyzed. The mean corpuscular volume（ MCV） 〈82 fL or mean corpuscular volume（ MCH）, 〈27 pg was considered as the phenotypically positive indicators of thalassemia. For the phenotypically positive samples,five mutations of α-globin gene and fifteen mutations of β-globin genes were further analyzed by using flow-through hybridization method. Results Among the 3 655 samples,771 phenotypically positive samples were identified. Among them,246 cases were α-thalassemia,82 cases were β-thalassemia and 8 cases were α-composite β-thalassemia. Five types of α-thalassemia alleles were identified in the population,i. e.,-SEA/,-α^3. 7/,-α^4. 2/,αα^QS/ and αα^CS/. Six types of β-thalassemia mutations were identified in the population,i. e.,ⅣSⅡ-654（ C 〉T）,CD41-42（-CTTT）,-28（ A 〉 G）,CD17（ A 〉T）,CD27-28（ ＋ C） and-29（ A G）. The carriage rate of the thalassemia genes in the urban population of Ganzhou was 9. 44%,including 6. 98% of α-thalassemia and 2. 46% of β-thalassemia. Conclusion The molecular epidemiology of the thalassemia genes in the Ganzhou urban population was characterized. The results of this research provided important reference data for the prevention and control of thalassemia in Ganzhou.

关 键 词：地中海贫血 基因型 分子流行病学 导流杂交 

分 类 号：R446[医药卫生—诊断学]