Fucharoen Goonnapa, Tungwiwat Warunee, Ratanasiri Thawalwong, Sanchaisuriya Kanokwan, Fucharoen Supan
Department of Clinical Microscopy, Khon Kaen University, Khon Kaen, Thailand.
Prenat Diagn. 2003 May;23(5):393-6. doi: 10.1002/pd.607.
In order to provide a noninvasive prenatal diagnosis of the hemoglobin E (Hb E) related disorder, we have evaluated the possibility of identifying the fetal beta(E)-globin gene in maternal plasma. The analysis was performed during 8 to 18 weeks of gestation using DNA extracted from 200 micro L of plasma from pregnant women whose husbands carried Hb E. The beta(E)-globin mutation in maternal plasma was detected by a nested PCR amplification followed by the Mnl I restriction analysis. The result was compared with that of routine analysis of the CVS specimens. Among the five pregnant women examined, the fetal beta(E)-globin gene was identified in maternal plasma in three of them and the result was completely concordant with the conventional CVS analysis. This simple noninvasive prenatal detection of the fetal beta(E)-globin gene should prove useful in a prevention and control program of Hb E/beta-thalassemia in countries where the beta(E)-globin gene is prevalent.
为了提供血红蛋白E（Hb E）相关疾病的非侵入性产前诊断，我们评估了在母体血浆中鉴定胎儿β（E）-珠蛋白基因的可能性。分析在妊娠8至18周期间进行，使用从丈夫携带Hb E的孕妇的200微升血浆中提取的DNA。通过巢式PCR扩增，随后进行Mnl I限制性分析，检测母体血浆中的β（E）-珠蛋白突变。将结果与绒毛取样（CVS）标本的常规分析结果进行比较。在接受检查的五名孕妇中，其中三名孕妇的母体血浆中鉴定出胎儿β（E）-珠蛋白基因，结果与传统的CVS分析完全一致。在β（E）-珠蛋白基因流行的国家，这种简单的胎儿β（E）-珠蛋白基因非侵入性产前检测在Hb E/β地中海贫血的预防和控制计划中应会证明有用。
