General information: The SALSA MLPA
Probemix P272 COL1A2 is a
research use only (RUO) assay for the detection of deletions or duplications in the
COL1A2 gene, which is associated with Osteogenesis Imperfecta (OI).
Type I collagen is the most common type of collagen. It is present in almost all connective tissues. This protein consists of three polypeptide chains: two alpha-1 polypeptide chains and one alpha-2 polypeptide chain, which are encoded by the
COL1A1 gene and the
COL1A2 gene, respectively.
OI is a genetic disorder characterised by bone fragility, severe bowing of long bones and low bone mass. The prevalence of this disorder ranges from one per 10,000 to one per 20,000 live births. Severe forms of OI lead to intrauterine fractures and perinatal lethality. Besides bone, other tissues rich in type I collagen are also affected, including skin, ligaments, and tendons. About 90% of the patients diagnosed with OI have mutations in the
COL1A1 or
COL1A2 genes.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1295/.
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.
Probemix content: The SALSA MLPA Probemix P272-C1 COL1A2 contains 43 MLPA probes with amplification products between 130 and 472 nucleotides (nt). This includes 35 probes for the
COL1A2 gene, which targets 35 out of 52 exons of the gene. In addition, eight 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.mlpa.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.mlpa.com.