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

Sameer Sakallah | Zendy; C Sansieri | Zendy; Douglas Kopp | Zendy; David L. Cooper | Zendy; J. A. Barranger | Zendy

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

Author(s) -

Sameer Sakallah,

C Sansieri,

Douglas Kopp,

David L. Cooper,

J. A. Barranger

Publication year - 1994

Publication title -

genome research

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 9.556

H-Index - 297

eISSN - 1549-5469

pISSN - 1088-9051

DOI - 10.1101/gr.4.1.1

Subject(s) - biology , oligonucleotide , polymerase chain reaction , genomic dna , genetics , population , disease , allele , roche diagnostics , diagnostic test , dna , microbiology and biotechnology , pathology , medicine , gene , pediatrics , environmental health

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.

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