SALSA MLPA probemixes P381 COL11A1 mix 1 and P382 COL11A1 mix 2 detect copy number variations in the COL11A1 gene.
Contents: P381 COL11A1 mix 1 and P382 COL11A1 mix 2 together contain 76 MLPA probes, including 56 probes for COL11A1.
Tissue: human genomic DNA.
Application: research on Marshall syndrome, and type II Stickler syndrome.
For research use only (RUO). Not for use in diagnostics.
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/.
SALSA MLPA Probemix P381 COL11A1 mix 1 is for research use only (RUO) in all territories.
A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).
The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.
Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.
We have no information about specific commercially available positive samples that can be used with this product.