SALSA MLPA Probemix P220 Obesity detects copy number variations in the LEPR, POMC, SIM1, LEP, MC4R, MC2R and MC3R genes, and in the 16p11.2 region.
Contents: 47 MLPA probes, including 11 probes for LEPR, 4 probes for POMC, 8 probes for SIM1, 3 probes for LEP, 4 probes for the 16p11.2 region, 2 probes for MC4R, 1 probe for MC2R, and 2 probes for MC3R.
Tissue: human genomic DNA.
Application: research on disorders related to obesity, including leptin deficiency, leptin receptor deficiency, and proopiomelanocortin deficiency.
For research use only (RUO). Not for use in diagnostics.
The SALSA MLPA Probemix P217 IGF1R is a research use only (RUO) assay for the detection of deletions or duplications in the IGF1R, IGFBP3, and IGFALS genes, which are associated with prenatal and postnatal growth failure.
Insulin-like growth factor 1 receptor (IGF1R) is a receptor that binds insulin-like growth factor with a high affinity and plays a critical role in transformation events. Cleavage of the IGF1R precursor generates alpha and beta subunits. It is highly overexpressed in many malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Mutations in the IGF1R gene results in IGF1 resistance which may underlie some cases of prenatal and postnatal growth failure.
The IGFBP3 gene encodes for the insulin-like growth factor binding protein 3 (IGFBP3) which is a member of the insulin-like growth factor binding protein (IGFBP) family. The protein forms a ternary complex with insulin-like growth factor acid-labile subunit (IGFALS) and either insulin-like growth factor (IGF) I or II. The IGFs family comprise of peptides that play important roles in mammalian growth and development. IGF1 mediates many of the growth-promoting effects of growth hormone.
SALSA MLPA Probemix P220 Obesity is for research use only (RUO) in all territories.
A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).
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.
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.