| 摘要: |
| ［摘要］ 目的 分析孕产妇产前地中海贫血的基因筛查和诊断情况。方法 应用全血细胞计数和血红蛋白电泳技术对358名孕妇进行产前筛查，分析红细胞平均体积（MCV）、红细胞平均血红蛋白含量（MCH）值以及血红蛋白电泳异常区带；应用裂口-聚合酶链式反应（Gap-PCR）和聚合酶链式反应（PCR）结合反向点杂交技术进行地中海贫血的基因诊断。结果 358名孕产妇中仅发现3例血红蛋白病［2例血红蛋白K（HbK）和1例血红蛋白D（HbD）］。结论 Gap-PCR和PCR结合反向点杂交技术在诊断地中海贫血中存在一定的漏检风险，该技术需与DNA测序配合使用才能提高诊断的准确度。 |
| 关键词: 血红蛋白病 地中海贫血 基因诊断 |
| DOI：10.3969/j.issn.1674-3806.2012.08.25 |
| 分类号:R 446.11 |
| 基金项目: |
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| Analysis on prenatal screening and diagnosis of gene of thalassemia in 358 pregnant women |
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XIONG Biao, LIU Ming-bo, LI Chong-jian, et al.
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Department of Clinical Laboratory, the First Pepole′s Hosptial of Qinzhou,Guangxi 535000,China
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| Abstract: |
| ［Abstract］ Objective To analyze the status on prenatal screening and diagnosis of the gene of thalassemia in pregnant women.Methods The complete blood count and hemoglobin electrophoresis were used for the analysis of MCV, MCH values, and abnormal hemoglobin electrophoresis zone in 358 pregnant women received prenatal screening of thalassemia.Results Three cases of hemoglobinopathies were found, including 2 cases of HbK, 1 case of HbD.Conclusion Gap-PCR and PCR binding reverse dot blot technique in the diagnosis of thalassemia has a certain undetected risk, such cases need to test in conjunction with DNA sequencing. |
| Key words: Hemoglobinopathies Thalassemia Genetic diagnosis |
