Kannan Meganathan, Ahmad Firdos, Yadav Birendra Kumar, Kumar Pratik, Jain Paresh, Kumar Rajive, Saxena Renu
Department of Hematology, All India Institute of Medical Sciences, New Delhi, India.
Am J Clin Pathol. 2008 Jul;130(1):93-8. doi: 10.1309/HYE4AP9961CEP0C0.
We studied 20 families with Glanzmann thrombasthenia, including 20 parents and 22 siblings, for carrier detection. Carrier detection was done by phenotypic analysis (flow cytometry and Western blot) and direct gene analysis (sequencing or restriction fragment length polymorphism). Reduced expression of the glycoprotein IIb/IIIa complex was found by flow cytometry in 17 (85%) of the parents and 12 (55%) of the siblings. Western blot showed a reduced or an abnormal band in 6 (30%) of the parents and 8 (36%) of the siblings. DNA analysis in family members showed all parents and 16 (73%) of siblings to be carriers. Both techniques, flow cytometry and Western blot, were evaluated with respect to DNA analysis as a "gold standard" method. The sensitivity of flow cytometry was higher (75%) than that of Western blot (39%). We concluded that flow cytometry can effectively be used for carrier detection in Glanzmann thrombasthenia.
我们研究了20个患有Glanzmann血小板无力症的家庭，包括20名父母和22名兄弟姐妹，以进行携带者检测。通过表型分析（流式细胞术和蛋白质免疫印迹法）和直接基因分析（测序或限制性片段长度多态性）进行携带者检测。通过流式细胞术发现，17名（85%）父母和12名（55%）兄弟姐妹的糖蛋白IIb/IIIa复合物表达降低。蛋白质免疫印迹法显示，6名（30%）父母和8名（36%）兄弟姐妹出现条带减少或异常。对家庭成员的DNA分析显示，所有父母和16名（73%）兄弟姐妹为携带者。将流式细胞术和蛋白质免疫印迹法这两种技术与作为“金标准”方法的DNA分析进行了评估。流式细胞术的灵敏度（75%）高于蛋白质免疫印迹法（39%）。我们得出结论，流式细胞术可有效用于Glanzmann血小板无力症的携带者检测。
