The University of Southampton
University of Southampton Institutional Repository

Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene

Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene
Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene
The Multiplex Ligation-dependent Probe Amplification assay (MLPA) is the method of choice for the initial mutation screen in the analysis of a large number of genes where partial or total gene deletion is part of the mutation spectrum. Although MLPA dosage probes are usually designed to bind to normal DNA sequence to identify dosage imbalance, point mutation-specific MLPA probes can also be made. Using the dystrophin gene as a model, we have designed two MLPA probe multiplexes that are specific to a number of commonly listed point mutations in the Leiden dystrophin point mutation database (http://www.dmd.nl). The point mutation probes are designed to work simultaneously with two widely used dystrophin MLPA multiplexes, allowing both full dosage analysis and partial point mutation analysis in a single test. This approach may be adapted for other syndromes with well defined common point mutations or polymorphisms.
dna, genes, mutation, point mutation, gene deletion, laboratories, analysis, syndrome, genetics, mlpa, point mutations, dystrophin, dosage
1073-6085
135-140
Bunyan, David J.
dd9134b9-f889-44cc-83cc-a41fc5d74d69
Skinner, Alison C.
eef109f5-65bd-4de4-903f-b338244d67c0
Ashton, Emma J.
ae8203fa-0c7e-44b2-8f73-616ff0c22778
Sillibourne, Julie
01057b20-1618-48f3-8ec5-3681ed85d5eb
Brown, Tom
a64aae36-bb30-42df-88a2-11be394e8c89
Collins, Amanda L.
877712f2-b733-45e0-891e-784245bb7ce6
Cross, Nicholas C.P.
f87650da-b908-4a34-b31b-d62c5f186fe4
Harvey, John F.
b27b83e2-c681-4a87-9ce9-7686fc1bba36
Robinson, David O.
9db1b26b-6c2b-4ac5-879e-20f8a2dc30ec
Bunyan, David J.
dd9134b9-f889-44cc-83cc-a41fc5d74d69
Skinner, Alison C.
eef109f5-65bd-4de4-903f-b338244d67c0
Ashton, Emma J.
ae8203fa-0c7e-44b2-8f73-616ff0c22778
Sillibourne, Julie
01057b20-1618-48f3-8ec5-3681ed85d5eb
Brown, Tom
a64aae36-bb30-42df-88a2-11be394e8c89
Collins, Amanda L.
877712f2-b733-45e0-891e-784245bb7ce6
Cross, Nicholas C.P.
f87650da-b908-4a34-b31b-d62c5f186fe4
Harvey, John F.
b27b83e2-c681-4a87-9ce9-7686fc1bba36
Robinson, David O.
9db1b26b-6c2b-4ac5-879e-20f8a2dc30ec

Bunyan, David J., Skinner, Alison C., Ashton, Emma J., Sillibourne, Julie, Brown, Tom, Collins, Amanda L., Cross, Nicholas C.P., Harvey, John F. and Robinson, David O. (2007) Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene. Molecular Biotechnology, 35 (2), 135-140. (doi:10.1007/BF02686108).

Record type: Article

Abstract

The Multiplex Ligation-dependent Probe Amplification assay (MLPA) is the method of choice for the initial mutation screen in the analysis of a large number of genes where partial or total gene deletion is part of the mutation spectrum. Although MLPA dosage probes are usually designed to bind to normal DNA sequence to identify dosage imbalance, point mutation-specific MLPA probes can also be made. Using the dystrophin gene as a model, we have designed two MLPA probe multiplexes that are specific to a number of commonly listed point mutations in the Leiden dystrophin point mutation database (http://www.dmd.nl). The point mutation probes are designed to work simultaneously with two widely used dystrophin MLPA multiplexes, allowing both full dosage analysis and partial point mutation analysis in a single test. This approach may be adapted for other syndromes with well defined common point mutations or polymorphisms.

Full text not available from this repository.

More information

Published date: February 2007
Keywords: dna, genes, mutation, point mutation, gene deletion, laboratories, analysis, syndrome, genetics, mlpa, point mutations, dystrophin, dosage

Identifiers

Local EPrints ID: 54258
URI: https://eprints.soton.ac.uk/id/eprint/54258
ISSN: 1073-6085
PURE UUID: c1e1b153-1249-45ee-96a7-68d72d0e00c5
ORCID for Nicholas C.P. Cross: ORCID iD orcid.org/0000-0001-5481-2555

Catalogue record

Date deposited: 31 Jul 2008
Last modified: 20 Jul 2019 01:04

Export record

Altmetrics

Contributors

Author: David J. Bunyan
Author: Alison C. Skinner
Author: Emma J. Ashton
Author: Julie Sillibourne
Author: Tom Brown
Author: Amanda L. Collins
Author: John F. Harvey
Author: David O. Robinson

University divisions

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of https://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×