活性炭吸附去除液相中硫醇的研究

利用吸附分离原理 ,研究液相中活性炭对硫醇的吸附 ,通过测定硫醇的浓度 ,作出其相平衡和透过曲线 ,确定活性炭在液相中的除臭 (硫醇 )作用     

Molecular prenatal diagnosis of Smith–Lemli–Opitz syndrome is reliable and efficient

Smith–Lemli–Opitz (RSH) syndrome (SLOS, OMIM 270400) is a relatively common, autosomal recessive disorder of cholesterol biosynthesis with a broad spectrum of phenotypic abnormalities caused by mutations of the 7-dehydrocholesterol reductase gene (DHCR7) on chromosome 11. Prenatal diagnosis can be established by detection of elevated 7-dehydrocholesterol or of SLOS-causing mutations in the DHCR7 gene. We report here our experience with molecular prenatal diagnosis of SLOS. Mutation analysis of the DHCR7 gene was performed in chorionic villus samples of 13 pregnancies of couples with a family history of SLOS and known SLOS genotypes. This approach is accurate and reliable. If facilities for biochemical analysis are not available, or in cases with ambiguous biochemical patterns, molecular prenatal diagnosis is an attractive, alternative option. Copyright © 2002 John Wiley & Sons, Ltd.