title: A new diagnostic test for Gaucher disease suitable for population screening.
abstract: A new test for the diagnosis of Gaucher disease is described. The test is designed to screen large numbers of clinical specimens from high-risk populations. It consists of duplex PCR amplification of genomic DNA followed by hybridization to alkaline phosphatase-conjugated allele-specific oligonucleotide probes (ASOs). High melting temperature PCR primers were used to increase specificity and eliminate the need for a separate annealing step. All hybridization and washing steps were performed at one temperature. Chemiluminescent detection of signals is fast, and results are easily interpreted directly from x-ray films. Currently, the test is being used in our laboratories to screen Ashkenazi Jewish populations in whom Gaucher disease is common.
authors.affiliation: Department of Pathology, University of Pittsburgh Medical Center, Pennsylvania, USA.
authors.forename: S A
authors.initials: SA
authors.lastname: Sakallah
authors.forename: C
authors.initials: C
authors.lastname: Sansieri
authors.forename: D W
authors.initials: DW
authors.lastname: Kopp
authors.forename: D L
authors.initials: DL
authors.lastname: Cooper
authors.forename: J A
authors.initials: JA
authors.lastname: Barranger
mesh_terms: D005776:Gaucher Disease / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006801:Humans; D007585:Jews / Q000235:genetics; D009154:Mutation; D015345:Oligonucleotide Probes; D016133:Polymerase Chain Reaction
chemical_list: D015345:Oligonucleotide Probes