Prenatal diagnosis of NADH:ubiquinone oxidoreductase deficiency

NADH:ubiquinone oxidoreductase (complex I of the mitochondrial respiratory chain) deficiency is a severe disorder with an often early fatal outcome. Prenatal diagnosis for complex I defects currently relies mainly on biochemical assays of complex I in fetal tissues such as chorionic villi (CV), and is only in a minority of cases possible by means of mutational analysis of nuclear-encoded genes of complex I. We report on our experience to date with prenatal diagnosis in pregnancies at risk for complex I deficiency. We measured complex I activity in native CV and/or cultured CV in 23 pregnancies in 15 families. In accordance with the results of the investigations in CV, 15 children were born clinically unaffected. Two prenatally diagnosed unaffected fetuses and two prenatally diagnosed affected fetuses were lost prematurely with spontaneous or provoked abortions, respectively. Two affected children were born (prenatally found to be affected). In two pregnancies a discrepancy between native and cultured cells was found. We conclude that prenatal diagnosis for complex I deficiency can be reliably performed. Pitfalls were encountered in using cultured CV as a result of maternal cell contamination (MCC). Future research on pathogenic nuclear mutations underlying complex I deficiency will extend the possibilities for prenatal diagnosis at the molecular level. Copyright © 2001 John Wiley & Sons, Ltd.     

细菌细胞中类异戊二烯醌的分析

类异戊二烯醌是细菌质膜的成分,在电子传递和氧化磷酸化中起重要作用.甲基萘醌和泛醌是其中较为重要的两类化合物.这两种化合物的分析鉴定是研究细菌细胞中类异戊二烯醌组成构象的前提,在细菌化学分类的研究中具有十分重要的意义.本文参考了有关细菌类异戊二烯醌分析的文献,综述了甲基萘醌和泛醌的分析方法,其中包括:液-液萃取、薄层色谱(TLC)、高效液相色谱(HPLC)、紫外吸收光谱(UV)、质谱(MS)的定性鉴定及HPLC的定量分析.     

固相萃取-LC-MS定性分析微生物呼吸醌方法的建立

以UQ-6,UQ-10和Vitamin K1作为研究对象,建立了固相萃取LC-MS定性分析微生物呼吸甲基萘醌(MK-n(Hz))和泛醌(UQ-n(Hx))的方法,并用此法定性分析了厌氧活性污泥中的微生物呼吸醌,该方法具有选择性强、灵敏度高的优点,是一种非常有效的微生物种群分析方法。