General information
The SALSA MLPA
Probemixes P381 COL11A1 mix 1 and P382 COL11A1 mix 2 are
research use only (RUO) assays for the detection of deletions or duplications in the
COL11A1 gene, which is associated with Marshall and type II Stickler syndromes.
Marshall syndrome is an autosomal dominant inherited disease characterised by short stature, nearsightedness, hearing loss, and intracranial ossifications. Type II Stickler syndrome patients have similar symptoms but are of near normal height and exhibit no bony overgrowths. Both syndromes occasionally present with cleft palate and patients frequently develop early osteoarthritis (Kahler et al. 2008). Since the characteristics of these syndromes overlap, it has been argued whether they are distinct entities or different manifestations of a single syndrome. Defects in
COL11A1 gene cause Marshall and type II Stickler syndromes.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1302/.
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 P381-A4 COL11A1 mix 1 contains 39 MLPA probes with amplification products between 130 and 454 nucleotides (nt) and SALSA MLPA Probemix P382-B1 COL11A1 mix 2 contains 37 MLPA probes with amplification products between 136 and 463 nt. These include a total of 56 probes that target 55 out of the 67 exons of the
COL11A1 gene.
In addition, ten reference probes are included in P381-A4 and ten reference probes are included in P382-B1 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).
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.