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A new approach for the identification of common point mutations within the dystrophin gene using MLPA

A new approach for the identification of common point mutations within the dystrophin gene using MLPA
A new approach for the identification of common point mutations within the dystrophin gene using MLPA
Between 70-75% of patients with Duchenne muscular dystrophy (DMD) have a large deletion or duplication of one or more exons in the dystrophin gene. The remaining patients are likely to have either a micro-deletion, micro-insertion or a point mutation. The Multiplex Ligation-dependent Probe Amplifi cation assay (MLPA) is quick and will detect all whole exonic deletions and duplications [1] however, point mutation analysis of the dystrophin gene remains diffi cult and time consuming due to the size of the gene. We have designed two MLPA probe mixes which are specifi c to 23 of the most common dystrophin gene point mutations (17% of all reported dystrophin point mutation cases). These point mutation probe mixes work simultaneously with the two commercial dystrophin MLPA probe mixes (P034/P035 MRC Holland), allowing both full dosage analysis and partial point mutation analysis in a two tube reaction. This method has been validated using nine positive controls.
0022-2593
S100-[1pp]
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
1cd7df32-b945-4ca1-8b59-a51a30191472
Collins, Amanda L.
877712f2-b733-45e0-891e-784245bb7ce6
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
1cd7df32-b945-4ca1-8b59-a51a30191472
Collins, Amanda L.
877712f2-b733-45e0-891e-784245bb7ce6
Bunyan, David J.
dd9134b9-f889-44cc-83cc-a41fc5d74d69

Skinner, Alison C., Ashton, Emma J., Sillibourne, Julie, Brown, Tom, Collins, Amanda L. and Bunyan, David J. (2005) A new approach for the identification of common point mutations within the dystrophin gene using MLPA. Journal of Medical Genetics, 42 (Supplement 1), S100-[1pp].

Record type: Article

Abstract

Between 70-75% of patients with Duchenne muscular dystrophy (DMD) have a large deletion or duplication of one or more exons in the dystrophin gene. The remaining patients are likely to have either a micro-deletion, micro-insertion or a point mutation. The Multiplex Ligation-dependent Probe Amplifi cation assay (MLPA) is quick and will detect all whole exonic deletions and duplications [1] however, point mutation analysis of the dystrophin gene remains diffi cult and time consuming due to the size of the gene. We have designed two MLPA probe mixes which are specifi c to 23 of the most common dystrophin gene point mutations (17% of all reported dystrophin point mutation cases). These point mutation probe mixes work simultaneously with the two commercial dystrophin MLPA probe mixes (P034/P035 MRC Holland), allowing both full dosage analysis and partial point mutation analysis in a two tube reaction. This method has been validated using nine positive controls.

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Published date: 2005

Identifiers

Local EPrints ID: 20911
URI: http://eprints.soton.ac.uk/id/eprint/20911
ISSN: 0022-2593
PURE UUID: 6fcfc1cf-aef2-4abf-8f23-e8ab1aa5ea01

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Date deposited: 06 Feb 2008
Last modified: 22 Jul 2020 16:38

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Contributors

Author: Alison C. Skinner
Author: Emma J. Ashton
Author: Julie Sillibourne
Author: Tom Brown
Author: Amanda L. Collins
Author: David J. Bunyan

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