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SALSA MLPA Probemix P382 COL11A1 mix 2

Marshall syndrome; Stickler syndrome type II

Region: COL11A1 1p21.1

Defects in COL11A1 gene cause 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.

The COL11A1 gene (67 exons) spans ~232 kb of genomic DNA and is located on 1p21.1, 103 Mb from p-telomere. These P381-A3 / P382-A3 COL11A1 probemixes contain probes for 56 of the 67 exons. No probes are present for exons 12, 13, 23, 31, 32, 45, 47, 50, 52, 55 and 65. Furthermore, the P381-A3 contains 11 reference probes and the P382-A3 contains 10 reference probes, detecting different autosomal chromosomal regions.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned gene in a DNA sample. Heterozygous deletions of recognition sequences should give a 35-50% reduced relative peak height of the amplification product of that probe. Note that a mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak height, even when not located exactly on the ligation site! In addition, some probe signals are more sensitive to sample purity and small changes in experimental conditions. Therefore, deletions and duplications detected by MLPA should always be confirmed by other methods. Not all deletions and duplications detected by MLPA will be pathogenic; users should always verify the latest scientific literature when interpreting their findings. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Finally, note that most defects in this gene are expected to be small (point) mutations which will not be detected by this SALSA® MLPA® test.

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

Required Reagents

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 P381 COL11A1 mix 1

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

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