General information
The SALSA MLPA Probemix P214 COL2A1 is a research use only (RUO) assay for the detection of deletions or duplications in the COL2A1 gene, which is associated with type II collagen disorders.
The COL2A1 gene (54 exons) spans ~31.5 kb of genomic DNA and is located on 12q13.11, ~47 Mb from the p-telomere. It encodes the pro-alpha-1 (II) chain of type II collagen, the major collagen found in cartilage and the vitreous humour of the eye. Defects in the COL2A1 gene lead to a number of different disorders, collectively called type II collagen disorders, which include amongst others achondrogenesis type 2, Stickler syndrome type 1, Kniest dysplasia, and spondyloepiphyseal dysplasia congenita. These disorders are characterised by abnormalities in the ocular, skeletal, orofacial, and audiological systems.

Mutations in COL2A1 have also been identified in individuals with chondrosarcoma, the second most common primary bone malignancy after osteosarcoma. Tarpey et al. (2013) reported insertions, deletions and rearrangements in 37% of the chondrosarcoma cases.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK540447/ (type II collagen disorders) and https://www.ncbi.nlm.nih.gov/books/NBK1302/ (Stickler syndrome).

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 P214-C2 COL2A1 contains 57 MLPA probes with amplification products between 124 and 500 nucleotides (nt). This includes 46 probes covering 43 different exons out of 54 exons of the COL2A1 gene. In addition, 11 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.