摘要
目的:探讨血红蛋白电泳与突变基因检测诊断β-地中海贫血的临床意义。方法:应用醋酸纤维薄膜电泳对100例小细胞低色素贫血病人进行血红蛋白电泳分析,将检测结果中MCV<80%,HbA2>3.2%,或HbF>3.1%的判为β-地中海贫血表型阳性,对阳性患者进一步应用聚合酶链反应(PCR)结合反向斑点杂交技术(RDB)检测其基因突变类型。结果:47例病人经血红蛋白电泳定量检测为β-地中海贫血表型阳性,其中22例为β-地中海贫血,阳性率为46.8%,检出5种突变基因,依次为:IVS-Ⅱ-654(C-T)、CD41-42(-TTCT)、CD17(A-T)、TATAbos-28(A-G)、CD14-15(+G)。以IVS-Ⅱ-654(C-T)突变类型占首位。结论:血红蛋白电泳联合基因诊断是目前诊断β-地中海贫血最可靠的实验方法。
Objective： To assess the clinical electrophoresis and detection of genetic mutation. significance of diagnosis of β-thalassemia via Hemoglobin Methods： Cellulose acetate film electrophoresis was used to analyze the hemoglobin of 100 patients with microcytic hypochromic anemia, the results that MCV 〈 80%,HbA2〉 3.2% or HbF〉3.1% were taken as β-thalassemia positive phenotype and then the type of genetic mutation of patients with β-thalassemia positive phenotype was detected by PCR technique and the technique of reverse dot blot （RDB）. Results： 47 patients with microcytic hypochromic anemia were detected as β-thalasse mia positive phenotype, and 22 of them were β-thalassemia, and five genetic mutation types were detected： IVS- Ⅱ -654 （C- T）,CD41 - 42 （-TTCT）,CD17 （A-T）,TATAbos -28 （A-G）,and CDI4-15（＋G）o And the mutation type of IVS-Ⅱ- 654（C-T）was on the top list. Conclusion：The PCR technique and the technique of reverse dot blot （RDB） are the most reliable way to diagnose β-thalassemia.
出处
《泸州医学院学报》
2012年第3期291-293,共3页
Journal of Luzhou Medical College
