气溶胶中的水溶性有机物研究进展

首先指出了对气溶胶中水溶性有机物（ ＷＳＯＣ） 研究的意义，接着对气溶胶中水溶性有机物的分子组成、来源和浓度水平进行了介绍，综述了采样和分析方法的历史及其进展，并对当前研究工作中存在的问题和在中国的应用前景进行了评述     

Molecular prenatal diagnosis of 3-hydroxy−3-methylglutaryl coa lyase deficiency

We report the first molecular prenatal diagnosis of 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency. The proband had a classic but severe presentation with hypoketotic hypoglycaemia and acidosis, secondary mental retardation, and epilepsy, and HL deficiency was documented in cultured fibroblasts. We found him to be homozygous for the frameshift mutation N46fs (+1), which yields a distinct pattern on single-strand conformation polymorphism (SSCP) analysis. In two subsequent pregnancies, molecular prenatal diagnosis was performed using SSCP. In the first, chorionic villus biopsy was normal. In the second pregnancy, amniocentesis revealed an affected fetus. In both pregnancies, the diagnosis was confirmed enzymatically. HL activity was less than 7 per cent of control values in amniocytes and fetal liver of the affected pregnancy. In the second pregnancy, amniotic fluid metabolite measurements by stable isotope dilution-selected ion monitoring mass spectrometry showed greater than 100-fold increases of 3-hydroxy-3-methylglutaric acid and of 3-methylglutaconic acid levels compared with controls.     

气溶胶中的水溶性有机物研究进展

首先指出了对气溶胶中水溶性有机物(WSOC)研究的意义,接着对气溶胶中水溶性有机物的分子组成、来源和浓度水平进行了介绍,综述了采样和分析方法的历史及其进展,并对当前研究工作中存在的问题和在中国的应用前景进行了评述。