General information
The SALSA MLPA Probemixes P391 LAMA2 mix 1 and P392 LAMA2 mix 2 are
research use only (RUO) assays for the detection of deletions or duplications in the
LAMA2 gene, which is associated with
LAMA2 muscular dystrophy.
LAMA2 muscular dystrophy shows a heterogeneous disease spectrum ranging from a severe congenital muscular dystrophy type 1A (MDC1A; merosin-deficient congenital muscular dystrophy type 1A) to a milder late-onset muscular dystrophy. The disease is caused by mutations in the
LAMA2 gene that encodes the laminin α2 subunit. Laminins are a family of heterotrimeric glycoproteins.The laminin α2 subunit is part of laminin-211 (also known as merosin or laminin-2) and laminin-221 (laminin-4), both of which play an important role in skeletal muscle. The
LAMA2 gene (65 exons) spans ~633 kb of genomic DNA and is located on 6q22.33, ~129 Mb from the p-telomere.
LAMA2 exons 44 and 53 are unusually small, with 6 and 12 nucleotides (nt), respectively.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK97333/.
These SALSA MLPA probemixes are not CE/FDA registered for use in diagnostic procedures. Purchase of these products includes a limited license for research purposes.
Probemix content
The SALSA MLPA Probemix P391-A3 LAMA2 mix 1 contains 43 MLPA probes with amplification products between 130 and 492 nt. The SALSA MLPA Probemix P392-A3 LAMA2 mix 2 contains 43 MLPA probes with amplification products between 136 and 483 nt.
The P391-A3 and P392-A3 probemixes contain 33 probes and 35 probes for the
LAMA2 gene, respectively. Together, these probemixes contain at least one probe for each exon of
LAMA2 with the exception of exons 18, 44 and 48. Two probes are present for exons 1, 2, 4 and 65, and three probes are present for exon 56. The P391-A3 and P392-A3 probemixes contain ten and eight reference probes, respectively. These reference probes detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (
www.mrcholland.com).
These probemixes contain 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.