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P275 MAPT-GRN

SALSA MLPA Probemix P275 MAPT-GRN detects copy number variations in the MAPT, GRN and CRHR1 genes.

Specifications

Contents: 41 MLPA probes, including 14 probes for MAPT (covering all exons) of which one detects the wild-type sequence of the c.1853C>T (P301L) mutation, 5 probes for GRN, 5 probes for CRHR1, and 7 other probes for the 17q21 region.

Tissue: human genomic DNA.

Application: research on neurodegenerative disorders related to MAPT, and Koolen-de Vries syndrome.

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

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List Prices Documentation

Key related products

P245 Microdeletion Syndromes-1A

Primary screening for microdeletion syndromes.

P443 KANSL1

Contains probes for KANSL1, which is also present in the 17q21.31 region. Loss of the gene results in Koolen-de Vries syndrome.

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General information

The SALSA MLPA Probemix P275 MAPT-GRN is a research use only (RUO) assay for the detection of deletions or duplications in the MAPT, GRN, and CRHR1 genes. This probemix can also be used to detect the presence of wildtype allele of the MAPT P301L (c.1853C>T) point mutation.

The MAPT gene encodes the microtubule-associated protein tau. Mutations in MAPT have been associated with several neurodegenerative disorders, such as frontotemporal dementia with parkinsonism, progressive supranuclear palsy, corticobasal degeneration, Pick disease, and dementia with epilepsy.

The MAPT gene (14 exons) spans ~134 kb of genomic DNA and is located on chromosome 17q21.31, 41 Mb from the p-telomere. The region on 17q21, which encompasses the MAPT and CRHR1 genes, is flanked by repeated DNA elements and is often (20% in Europeans) present in inverted position. The Koolen-de Vries syndrome (OMIM 610443), characterized by developmental delay and mild to moderate intellectual disability, can be caused by a microdeletion in this region. Loss of the KANSL1 gene, which is located 7 kb downstream of the MAPT gene, accounts for the features of that syndrome. Duplication of the 17q21 region can result in psychomotor developmental delay (Kirchhoff et al. 2007; Grisart et al. 2009).

The GRN (PGRN) gene (13 exons), spans ~8 kb of genomic DNA and is located on chromosome 17q21.31, 40 Mb from the p-telomere. Defects in the GRN gene cause frontotemporal lobar degeneration.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1371/.

Regulatory status

SALSA MLPA Probemix P275 MAPT-GRN is for research use only (RUO) in all territories.

Product documentation

Version C4

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P275-025R
SALSA MLPA Probemix P275 MAPT-GRN – 25 rxn
MLPA
€ 286.00
P275-050R
SALSA MLPA Probemix P275 MAPT-GRN – 50 rxn
MLPA
€ 560.00
P275-100R
SALSA MLPA Probemix P275 MAPT-GRN – 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

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