General information: The SALSA MLPA
Probemixes P331 COL5A1 MIX-1 and P332 COL5A1 MIX-2 are a
research use only (RUO) assays for the detection of deletions or duplications in the
COL5A1 gene, which is associated with classic Ehlers-Danlos syndromes.
Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders characterised by hyperextensible skin, articular/joint hypermobility and soft tissue fragility. The classic type of EDS, formly known as type I and II, is caused by mutations in the type V collagen genes
COL5A1 and
COL5A2 and is inherited in an autosomal dominant manner. Mutations of
COL5A1 account for 75-78% of classic EDS. Studies suggest that type V collagen controls the assembly of heterotypic fibres composed of type I and type V collagen as well as the assembly of other collagen types.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1244/
Probemix content: The SALSA MLPA Probemix P331-B2 COL5A1 MIX-1 contains 40 MLPA probes with amplification products between 130 and 463 nucleotides (nt). The SALSA MLPA Probemix P332-C2 COL5A1 MIX-2 contains 36 MLPA probes with amplification products between 130 and 454 nt.
P331-B2 and P332-C2 contain 29 and 27 probes for the
COL5A1 gene, respectively. Together, these probemixes cover 56 out of 66
COL5A1 exons by at least one probe. In addition, eleven and nine reference probes are included in P331-B2 and P332-C2, respectively, that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (
www.mlpa.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.mlpa.com.