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Bernadette Chadefaux Vekemans Jean-Paul Bonnefont Joëlle Aupetit Ghislaine Royer Véronique Droin Tania Attié-Bitach Jean-Marie Saudubray Laure Thuillier 《黑龙江环境通报》2003,23(11):884-887
Carnitine palmitoyltransferase 2 (CPT2) deficiency, the most common autosomal recessive inherited disease of the mitochondrial long-chain fatty acid (LCFA) β-oxidation, may result in three distinct clinical phenotypes, namely, a mild adult muscular form, a severe infantile hepatocardiomuscular disease, and a neonatal form, which includes dysmorphic features in addition to hepatocardiomuscular symptoms. Both the latter forms are life-threatening diseases, and prenatal diagnosis (PND) can be offered to couples at a one-fourth risk of having an affected child. PND of CPT2 deficiency hitherto relied mostly on mutation detection from fresh chorionic villi (10 weeks' gestation), since CPT2 activity could be assayed on cultured amniocytes only (16–17 weeks' gestation). We devised a CPT2 activity assay from 10 mg of chorionic villi sampling (CVS). Combining this enzymatic assay to haplotype study using polymorphic markers linked to the CPT2 gene, we were able to carry out within 2 days, CPT2 deficiency PND, in two unrelated families, using a CVS performed at the 11th week of gestation. Copyright © 2003 John Wiley & Sons, Ltd. 相似文献
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Actual textile wastewater and synthesized wastewater containing various textile dyes were photocatalytic degraded by the UVH2O2Fs-TiO2 process in an aimular-flow photocatalytic reactor. In this process, a photon kinetic-measure was adopted to obtain constant rates of dyes decomposition. It was theorized that, by illumination at different UV frequencies, the electrons within the semiconductor were excited from the valence band to the conduction band, yielding the formation of electron-hole pairs which are the pre-requisites for photocatalysis. CPT (critical photonic time) exposure required to cause 90% of vibrations between the double and single bonds along the molecular chain of the dyes to be oxidized, was taken to measure the photocatalytic activities. The CPTs varied with the frequencies of the UV spectral areas. The derivatization of CPT from the first-order kinetic law was presented. 相似文献
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