Direct analysis of filter paper blood specimens for identification of Smith-Lemli-Opitz syndrome using time-of-flight secondary ion mass spectrometry.
In this study, time-of-flight secondary ion mass spectrometry was used to distinguish between blood of normal infants and that of individuals with Smith-Lemli-Opitz (SLO) syndrome. SLO syndrome results in an abnormally low concentration of blood cholesterol and an elevated concentration of 7-dehydrocholesterol. Blood was spotted on filter paper and analyzed directly with no extractions or separations. Results showed that using ratios of fragment ions for cholesterol/dehydrocholesterol, patients with SLO and normal individuals could be unambiguously distinguished. Unknown samples from 28 individuals were obtained and identified correctly.
Zimmerman
P A
PA
Department of Chemistry, University of Pittsburgh, Pennsylvania, USA.
Hercules
D M
DM
Naylor
E W
EW
D000328:Adult; D002648:Child; D002675:Child, Preschool; D002784:Cholesterol / Q000097:blood; D003684:Dehydrocholesterols / Q000097:blood; D005069:Evaluation Studies as Topic; D005374:Filtration; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008403:Mass Screening; D019082:Smith-Lemli-Opitz Syndrome / Q000097:blood / Q000175:diagnosis*; D018629:Spectrometry, Mass, Secondary Ion
D003684:Dehydrocholesterols; D002784:Cholesterol