Quantification of 7-dehydrocholesterol in plasma and amniotic fluid by liquid chromatography/particle beam-mass spectrometry as a biochemical diagnostic marker for the Smith-Lemli-Opitz syndrome.
The qualitative and quantitative determination of cholesterol and 7-dehydrocholesterol (7-DHC) in plasma as a biochemical diagnostic marker for the Smith-Lemli-Opitz syndrome by liquid chromatography/particle beam interface-mass spectrometry (LC/PB-MS) is presented. Baseline separation of cholesterol and 7-DHC is achieved on a silica column with hexane+ethanol (99: 1 v/v) as mobile phase within a 10 min analysis. Recoveries of cholesterol and 7-DHC in a simple two-phase extraction system are nearly 100%. The absolute limit of detection using LC/PB-MS is approximately 10 ng. The method presented allows extraction, analysis and quantification of cholesterol and 7-DHC within 15 min without the necessity of sample derivatization.
Institute of Medical Biochemistry, Karl-Franzens University Graz, Austria.
W
W
Sattler
H J
HJ
Leis
G M
GM
Kostner
E
E
Malle
D000653:Amniotic Fluid / Q000737:chemistry*; D015415:Biomarkers; D002784:Cholesterol / Q000097:blood; D002853:Chromatography, Liquid; D003684:Dehydrocholesterols / Q000032:analysis* / Q000097:blood; D005260:Female; D006801:Humans; D013058:Mass Spectrometry; D011247:Pregnancy; D019082:Smith-Lemli-Opitz Syndrome / Q000097:blood / Q000175:diagnosis*
D015415:Biomarkers; D003684:Dehydrocholesterols; D002784:Cholesterol; C016705:7-dehydrocholesterol