A new diagnostic test for Gaucher disease suitable for population screening.
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.
Sakallah
S A
SA
Department of Pathology, University of Pittsburgh Medical Center, Pennsylvania, USA.
Sansieri
C
C
Kopp
D W
DW
Cooper
D L
DL
Barranger
J A
JA
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
D015345:Oligonucleotide Probes