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SALSA MLPA Probemix P382 COL11A1 mix 2

Marshall syndrome; Stickler syndrome type II

Region: COL11A1 1p21.1

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 ( 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.

Order Items

Probemix

Item no.
Description
Technology
Price
P382-025R
SALSA MLPA Probemix P382 COL11A1 mix 2 – 25 rxn
€ 243.00
P382-050R
SALSA MLPA Probemix P382 COL11A1 mix 2 – 50 rxn
€ 486.00
P382-100R
SALSA MLPA Probemix P382 COL11A1 mix 2 – 100 rxn
€ 972.00

Required Reagents (Sold Separately)

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA EK1 reagent kit – 100 rxn – FAM
€ 300.00
EK1-Cy5
SALSA MLPA EK1 reagent kit – 100 rxn – Cy5
€ 300.00
EK5-FAM
SALSA MLPA EK5 reagent kit – 500 rxn – FAM
€ 1380.00
EK5-Cy5
SALSA MLPA EK5 reagent kit – 500 rxn – Cy5
€ 1380.00
EK20-FAM
SALSA MLPA EK20 reagent kit – 2000 rxn – FAM
€ 5295.00

Related Products

SALSA MLPA Probemix P214 COL2A1

Contains probes for COL2A1, involved in Stickler syndrome type I.

SALSA MLPA Probemix P381 COL11A1 mix 1

Probes for COL11A1, involved in type 2 Stickler syndrome and Marshall syndrome.

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