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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 βE-globin gene in maternal plasma. The analysis was performed during 8 to 18 weeks of gestation using DNA extracted from 200 µL of plasma from pregnant women whose husbands carried Hb E. The βE-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 βE-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 βE-globin gene should prove useful in a prevention and control program of Hb E/β-thalassemia in countries where the βE-globin gene is prevalent. Copyright © 2003 John Wiley & Sons, Ltd.  相似文献   
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构建厌氧/限氧曝气的序批式生物系统(A/OLASBR),以碳源偏低模拟城市污水为对象,在连续(CA)和间歇曝气(IA)模式下,研究以PHB为碳源驱动的同时硝化/反硝化除磷(SNDPR)过程,并考察了PHB、氧化还原电位(ORP)和pH值的变化规律与SNDPR持续稳定性之间的关系.结果表明,在恒定气量为40 L·h-1的CA模式下TN和TP去除率分别为79.9%和92.8%;而IA模式下曝气百分数(AF)和曝气频率(fIA)值为0.5和24时,TN与TP去除率分别为87.9%和93.5%,PHB降解速率平稳,ORP均值均化程度最好,ORP和pH值的稳定性最强.因此,低AF和高fIA的IA模式可缓冲PHB降解速率,均衡硝化与反硝化除磷速率,有利于SNDPR过程的持续稳定,且ORP均值的均化程度与ORP和pH值的稳定性可控制SNDPR过程的持续稳定.  相似文献   
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In nine pregnant women at risk for fetal alpha-thalassaemia, the two affected fetuses were diagnosed by ultrasonography at 18–20 weeks' gestation. In countries with limited resources, ultrasonography provides a cost-effective method of prenatal screening for this condition.  相似文献   
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