诊断基因芯片检测β地中海贫血基因突变的价值初探

目的　评价 β地中海贫血 (β地贫 )诊断基因芯片的实际应用价值。 方法　对轻中重型 β地贫家系、高危胎儿产前诊断、婚检青年及门诊贫血病人 90例样本共 1 80条染色体 ,采用斑点杂交法和基因芯片技术检测其β地贫基因突变 ,并用盲法比较它们的结果。结果　 1 80条染色体中 ,斑点杂交法共检出 β地贫基因突变 74条 ,其中CD41 - 4 2占 52 .7% ,CD1 7占 40 .5 % ,CD71 - 72及 - 2 8各占 2 .7% ,654 - 2占 1 .4 % ;而基因芯片技术则能检测出 73条 ,其敏感性为 98.6 % ,特异性为 1 0 0 % ,准确性为 99.4 % ;阳性预测值为 1 0 0 % ,阴性预测值为 99%。结论　应用基因芯片技术检测 β地贫的基因突变敏感性高 ,特异性强 ,准确性高 ,且有简便、经济、省时省力 ,无需接触放射性同位素等优点

The application value of Thalachip in identification of β Thalassemia mutations

Objective To assess the application value of the diagnosis genechip (Thalachip) in determining β Thalassemia. Methods A dot blot and a Thalachip technique were used to identify β Thalassemia mutations of 180 chromosomes from 90 samples (including families with light, mild and severe β Thalassemia, high risk fetus received ante partum diagnosis, young individuals received marriageable examination and outpatients with anemia), respectively; and their sequences were also blindly comparatively confirmed. Results In 180 chromosomes, of 74 mutations identified by dot blot (in which CD41-42 was 52.7%, CD17 was 40.5%, CD71-72 and -28 was 2.7%, respectively, and 654-2 was 1.4%); 73 mutations were detected by Thalachip technique, the sensitivity was 98.6%, the specificity was 100%, and the accuracy was 99.4%;the positive predictive value was 100%, and the negative was 99%. Conclusions The usage of Thalachip technique in identifying β Thalassemia mutations has the advantages of high sensitivity, specificity and accuracy, as well as simplicity, economy, and less time and energy. The technicians could also be far from radioisotope.