Choose your country to see the products for your location

P336 UBE3A

SALSA® MLPA® Probemix P336 UBE3A detects copy number variations in the UBE3A gene.

Specifications

Contents: 37 MLPA probes, including 18 probes for UBE3A, 3 probes for GABRB3 and 4 probes for MTHFR.

Tissue: human genomic DNA.

Application: research on Angelman syndrome (AS).

For research use only (RUO). Not for use in diagnostics.

Quick links

List Prices Documentation

Key related products

ME028 Prader-Willi/Angelman

Primary screening for Prader-Willi and Angelman Syndrome (copy number & methylation).

P339 SHANK3

Primary screening for Autism-spectrum disorder.

P343 Autism-1

Contains additional probes for the 15q13 region and the UBE3A gene.

View all

General information

The SALSA MLPA Probemix P336 UBE3A is a research use only (RUO) assay for the detection of deletions or duplications in the UBE3A gene, which is associated with Angelman syndrome (AS).

AS is a maternally inherited neurodevelopmental disorder characterized by intellectual disability, ataxia, epilepsy, minimal speech, and characteristic behavioural features. Defects in the UBE3A gene on chromosome 15q11.2 is one of the causes of AS. The protein encoded by this gene is ubiquitin protein ligase E3A, a part of the ubiquitin protein degradation system. AS individuals fail to inherit a normal active maternal copy of UBE3A. UBE3A is subject to genomic imprinting, with predominant transcription of the maternal allele in brain.

Besides or along with mutations in the UBE3A gene, other known genetic causes of AS are maternal deletion of chromosome 15q11-q13, paternal chromosome 15 uniparental disomy, and 15q11 imprinting defects. Maternal duplications of 15q11-q13 lead to a distinct condition that often includes autism (Stewart et al. 2011, Hogart et al. 2009). An AS-like phenotype might be caused by aberrations in the MTHFR gene. Moreover, there has been evidence for linkage of 16p13 to autism (Liu et al. 2012, IMGSAC 2001).

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1144/.

Regulatory status

SALSA MLPA Probemix P336 UBE3A is for research use only (RUO) in all territories.

Product documentation

Version B1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P336-025R
SALSA MLPA Probemix P336 UBE3A – 25 rxn
MLPA
€ 286.00
P336-050R
SALSA MLPA Probemix P336 UBE3A – 50 rxn
MLPA
€ 560.00
P336-100R
SALSA MLPA Probemix P336 UBE3A – 100 rxn
MLPA
€ 1096.00

Required reagents

A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
MLPA MS-MLPA
€ 348.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 348.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6152.00

Price details & ordering

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.

More information about ordering & prices

Positive samples

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.

Resources

General MLPA resources

MLPA education

This site uses cookies to help improve your online experience. Learn more
No, thank you accept

Sign in

Don't have an account? Create one

Forgot password?

Select Your Country

Choose your country to see the products for your location