贵州医科大学学报

2018, v.43;No.214(07) 781-784

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贵州籍α、β-地中海贫血患者的基因突变类型分析
Analysis of α,β-thalassemia Mutations in Guizhou

刘兴梅;王茹蕾;苏莉;李贵芳;吴娴;黄盛文;
LIU Xingmei;WANG Rulei;SU Li;LI Guifang;WU Xian;HUANG Shengwen;Department of Laboratory Science,Guizhou People's Hospital;

摘要(Abstract):

目的:分析贵州籍α、β-地中海贫血(地贫)患者的基因突变类型。方法:收集平均红细胞体积(MCV)和平均血红蛋白含量(MCH)降低、或血红蛋白(Hb)电泳提示可能为α-地贫或β-地贫的贵州籍患者1406例,应用跨越断裂位点聚合酶链反应(Gap-PCR)技术和反向杂交技术(reverse dot blot,RDB)分别检测α、β-地贫患者的基因突变类型,并计算这些基因类型的分布频率。结果:386例α-地贫患者、1 020例β-地贫患者及其基因携带者中,检出12种α-地贫基因突变基因型和8种β-地贫基因突变型;按分布频率,α-地贫基因突变基因型前4位依次为--sea/αα(65.54%)、-α~(3.7)/αα(16.32%)、--sea/α~(3.7)(5.44%)和-α~(4.2)/αα(4.40%,β-地贫基因突变型前4位为CD17/N(41.67%)、CD41-42/N(35.20%)、654-II/N(10.59%)和CD17/CD17(3.63%)。结论:贵州地区的α、β-地贫突变谱与国内其他地区基本一致,突变类型以东南亚缺失型--sea、CD17最常见。
Objective: To investigate the types of α,β-thalassemia mutations in Guizhou. Methods:1406 cases of α,β-thalassemia patients with lowered mean corpuscular volume( MCV) and mean corpuscle hemoglobin( MCH),together with Hb indication. Gap-polymerase chain reaction( Gap-PCR)and reverse dot blot hybridization( RDB) were adopted to detect three known α-and β-thalassemia mutations. Then distribution frequencies were analyzed. Results: Among 386 individuals with α-thalassemia and 1020 β-thalassemia patients,12 α-thalassemia and 8 β-thalassemia major genotypes mutations were tested. The top four mutations of α-thalassemia are:--sea/αα( 65. 54%),-α3. 7/αα( 16. 32%),--sea/α3. 7( 5. 44%) and-α4. 2/αα( 4. 40%); top four mutations of β-thalassemia are: CD17/N( 41. 67%),CD41-42/N( 35. 20%),654-II/N( 10. 59%) and CD17/CD17( 3. 63%).Conclusion: Spectrum of α,β-thalassemia in Guizhou is similar to those of other domestic regions,mutation type is manly the Southeast Asia Deletion,D-sea,CD17.

关键词(KeyWords): α地中海贫血;β地中海贫血;基因突变;基因型;血红蛋白
α-thalassemia;β-thalassemia;gene mutation;genotype;hemoglobin

Abstract:

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基金项目(Foundation): 贵阳市科技计划项目[筑科合同(20151001)社61号];; 贵州省人民医院青年基金资助项目合同编号[GZSYQN(2016)14号]

作者(Author): 刘兴梅;王茹蕾;苏莉;李贵芳;吴娴;黄盛文;
LIU Xingmei;WANG Rulei;SU Li;LI Guifang;WU Xian;HUANG Shengwen;Department of Laboratory Science,Guizhou People's Hospital;

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