某地区珠蛋白生成障碍性贫血基因型分析  

Analysis of thalassemia genotypes in Zhanjiang area of Guangdong province

作　　者：林旭[1] 朱正洪[1] 樊龙中[1] 刘俊[1] 欧晓灿[1] 潘世鑫[1] 张甜城 王萍[1] 常镜 

机构地区：[1]中国人民解放军第四二二医院检验科,广东湛江524005

出　　处：《检验医学与临床》2017年第14期2086-2088,共3页Laboratory Medicine and Clinic

摘　　要：目的探讨湛江地区α-、β-珠蛋白生成障碍性贫血基因型的分布特点。方法选择2013年1月至2014年12月该院检验科PCR室检测的1 722例婚检、孕检、疑似患者的珠蛋白生成障碍性贫血患者临床资料进行基因分型。α-、β-珠蛋白生成障碍性贫血基因检测采用PCR联合膜杂交法。结果1 722例受检标本中共检测出珠蛋白生成障碍性贫血213例,检出率12.37%,其中α-珠蛋白生成障碍性贫血150例,占8.71%,最常见的基因型是东南亚型基因缺失--SEA、右侧缺失型-α3.7、左侧缺失型-α4.2,占α-珠蛋白生成障碍性贫血的52.67%、22.00%、8.67%;β-珠蛋白生成障碍性贫血63例,占3.66%,最常见的基因突变型是CD41-42M、CD17/N、IVS-Ⅱ-654/N,占β-珠蛋白生成障碍性贫血的41.27%、14.29%、12.69%。结论湛江地区珠蛋白生成障碍性贫血检出率在广东省较高,以--SEA和-α3.7缺失型α-珠蛋白生成障碍性贫血为主,其次是β-珠蛋白生成障碍性贫血CD41-42M突变型,β-珠蛋白生成障碍性贫血明显高于广东省平均水平。为该病的防治、遗传咨询、携带者筛查、优化产前诊断。Objective To study the distribution and characteristics of the α-and β-thalassemia genotypes and to provide basic data of patients with thalassaemia in Zhanjiang area,Guangdong Province.Methods From January 2013 to December 2014,there were 1 722 cases including pre-marital medical checks,pregnancy examinations and suspected thalassemia patients,who were detected to screen thalassemia and analyze the gene feature in the gene lab of Clinical Laboratory in PLA No.422 Hospital.The polymerase chain reaction（PCR） combined the membrane hybridization technology were used to diagnose α and β-thalassemia.Results 12.37%（213/1 722） cases were detected as thalassemia,and 150（8.71%） of them were α-thalassemia gene deletion which were including 52.67% with——SEA,22.00% with-α3.7 and 8.67% with-α4.2.There was 3.66%（63/1 722） cases with the β-thalassemia gene mutation,and the frequencies of β-thalassemia gene mutation in CD41-42M,CD17/N and IVS-Ⅱ-654/N were 41.27%,14.29% and 12.69%,respectively.Conclusion The prevalence of thalassemia are high level in Zhanjiang area.α-thalassemia gene deletion was major in——SEA and-α3.7,but in β-thalassemia CD41-42M is the main mutation type,which is significantly higher level than in other areas of Guangdong Province.This study describes the characteristics of thalassemia in Zhanjiang area,including genotype,frequency and prevalence,which will provide basic datas for improving thalassemia prevention,genetic counseling,carrier screening and prenatal diagnosis.

关 键 词：珠蛋白生成障碍性贫血 α-珠蛋白生成障碍性贫血基因缺失 β-珠蛋白生成障碍性贫血基因突变 基因分型 

分 类 号：R714.55[医药卫生—妇产科学]