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2004•ePrints Soton (University of Southampton)Requires access

MLPA-based point mutation analysis of the FBN1 gene in Marfan syndrome

David J. Bunyan, Tom Brown, R. Wycherley, J Score, John F. Harvey, Ncp Cross

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Abstract

The Multiplex Ligation-dependant Probe Amplification assay (MLPA) detects whole-exon deletions or duplications (Schouten et al 2002). These mutations are present at a significant level in many genes such that it is financially advantageous to pre-screen all new patients using MLPA prior to point mutation analysis (Bunyan et al 2004). To further improve the mutation detection rate, it would be useful if an MLPA test could also detect common point mutations.

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What this paper is about

The Multiplex Ligation-dependant Probe Amplification assay (MLPA) detects whole-exon deletions or duplications (Schouten et al 2002). These mutations are present at a significant level in many genes such that it is financially advantageous to pre-screen all new patients using MLPA prior to point mutation analysis (Bunyan et al 2004). To further improve the mutation detection rate, it would be useful if an MLPA test could also detect common point mutations.

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Available abstract

The Multiplex Ligation-dependant Probe Amplification assay (MLPA) detects whole-exon deletions or duplications (Schouten et al 2002). These mutations are present at a significant level in many genes such that it is financially advantageous to pre-screen all new patients using MLPA prior to point mutation analysis (Bunyan et al 2004). To further improve the mutation detection rate, it would be useful if an MLPA test could also detect common point mutations.

Key concepts: Multiplex ligation-dependent probe amplification, Point mutation, Exon, Multiplex, Mutation, Genetics, Mutation testing, Gene

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MLPA-based point mutation analysis of the FBN1 gene in Marfan syndrome — Research Paper | ScholarLens