General information
The SALSA MLPA Probemix P326 LARGE1 is a research use only (RUO) assay for the detection of deletions or duplications in the LARGE1, FKTN and POMT2 genes. Defects in these genes are associated with forms of congenital or limb-girdle muscular dystrophy in which obstruction of O-linked glycosylation is cause of disease, collectively referred to as dystroglycanopathies (Martin 2005). Dystroglycanopathies are autosomal recessive disorders and include Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama congenital muscular dystrophy, congenital muscular dystrophy 1C and 1D, and limb girdle muscular dystrophy 2I. Mutations in the FKTN gene may also result in dilated cardiomyopathy without muscular dystrophic features (Murakami et al. 2006).

Although point mutations may be a more common cause of gene disfunction, intragenic deletions have been reported for LARGE1 (van Reeuwijk et al. 2007), FKTN (Hobbiebrunken et al. 2016) and POMT2 (Yanagisawa et al. 2009).

More information on LARGE1 is available at https://www.omim.org/entry/603590
More information on FKTN is available at https://www.omim.org/entry/607440
More information on POMT2 is available at https://www.omim.org/entry/607439

This SALSA MLPA probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.

Probemix content
The SALSA MLPA Probemix P326-B1 LARGE1 contains 55 MLPA probes with amplification products between 130 and 500 nucleotides (nt). This includes 30 probes for the LARGE1 gene and one probe targeting a sequence located upstream of the LARGE1 gene, six probes for the FKTN gene, and nine probes for the POMT2 gene. In addition, nine reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (www.mrcholland.com).

This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mrcholland.com.