The SALSA MLPA
Probemix P217 IGF1R is a research use only (RUO)
assay for the detection of deletions or duplications in the IGF1R,
, 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.
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.
This SALSA MLPA probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.
The SALSA MLPA Probemix P217-C1 IGF1R contains 45 MLPA probes with amplification products between 127 and 480 nucleotides (nt). This includes 27 probes for the IGF1R
gene, six probes for the IGFBP3
gene and three probes for the IGFALS
gene. In addition, nine reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (www.mrcholland.com
This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mrcholland.com