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P262 GHI

SALSA MLPA Probemix P262 GHI detects copy number variations in the GHR, JAK2, IGF1 and STAT5B genes.

Specifications

Contents: 50 MLPA probes, including 11 probes for GHR (covering all exons), 15 probes for JAK2, 4 probes for IGF1, and 11 probes for STAT5B.

Tissue: human genomic DNA.

Application: research on growth hormone insensitivity (GHI).

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

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List Prices Documentation

Key related products

P018 SHOX

Contains probes for SHOX (Léri-Weill Dyschondrosteosis).

P026 Sotos

Contains probes for NSD1 and NFIX (Sotos syndrome).

P216 Growth Hormone Deficiency

Contains probes for genes involved in growth hormone deficiency.

View all

General information

The SALSA MLPA Probemix P262 GHI is a research use only (RUO) assay for the detection of deletions or duplications in the GHR, JAK2, IGF1, and STAT5B genes, which are associated with growth hormone insensitivity (GHI).

GHI is characterized by severe short stature, normal to elevated serum levels of growth hormone (GH) and resistance to exogenous GH therapy. The aetiology of GHI is classically associated with mutations in the GH receptor (GHR) gene or with mutations affecting the signalling cascade of the GHR (OMIM 245590). Intracellular signalling molecules activated by GH belong to the Janus kinase-signal transducer and activator of transcription 5B (JAK2-STAT5B) pathway. Amongst others, this pathway activates the insulin-like growth factor (IGF1), which is implicated in the regulation of protein turnover and exerts potent mitogenic and differentiating effects on most cell types.

There are two genomic isoforms of the GHR gene in humans: a full-length isoform (GHRfl) and an isoform lacking exon 3 (GHRd3). The distribution of these genotypes differs among populations, with the frequency for GHRfl/GHRfl ranging from 35–53%, for GHRfl/GHRd3 between 33–58%, and for GHRd3/GHRd3 ranging from 7-26%. Growth hormone is used to increase height in short children who are not deficient in growth hormone receptor, but its efficacy varies widely between individuals. Dos Santos et al. (2004, Nat Genet.) found that the GHRd3 isoform was associated with 1.7 to 2 times more growth acceleration induced by growth hormone than the full-length isoform.

Regulatory status

SALSA MLPA Probemix P262 GHI is for research use only (RUO) in all territories.

Product documentation

Version B2

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P262-025R
SALSA MLPA Probemix P262 GHI – 25 rxn
MLPA
€ 286.00
P262-050R
SALSA MLPA Probemix P262 GHI – 50 rxn
MLPA
€ 560.00
P262-100R
SALSA MLPA Probemix P262 GHI – 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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