Direct analysis of filter paper blood specimens for identification of Smith-Lemli-Opitz syndrome using time-of-flight secondary ion mass spectrometry
✍ Scribed by Zimmerman, Paul A.; Hercules, David M.; Naylor, Edwin W.
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 173 KB
- Volume
- 68
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
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 7dehydrocholesterol. 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. Am. J. Med. Genet. 68: 300-304, 1997.