This Article Full Text (PDF) References Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Sakallah, S A Articles by Barranger, J A Search for Related Content PubMed PubMed Citation Articles by Sakallah, S A Articles by Barranger, J A Social Bookmarking                   What's this?

A new diagnostic test for Gaucher disease suitable for population screening.

Department of Pathology, University of Pittsburgh Medical Center, Pennsylvania, USA.

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.

CiteULike

Connotea

Del.icio.us

Digg

Reddit

Technorati