General information:
The SALSA MLPA Probemix P271 COL1A1 is a research use only (RUO) assay for the detection of deletions or duplications in the COL1A1 gene, which is associated with osteogenesis imperfecta (OI).

OI is a genetic disorder characterized 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. The majority of patients diagnosed with OI have mutations in the COL1A1 or COL1A2 genes.

Type I collagen is the most common type of collagen and it is present in almost all connective tissues. This protein consists of three polypeptide chains: two ɑ1 polypeptide chains and one ɑ2 polypeptide chain. The ɑ1 polypeptide is encoded by the COL1A1 gene and the ɑ2 polypeptide by the COL1A2 gene.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1295/.

Probemix content:
The SALSA MLPA Probemix P271-B5 COL1A1 contains 42 MLPA probes with amplification products between 130 and 445 nucleotides (nt). This includes 33 probes for the COL1A1 gene targeting 33 out of 51 exons of the 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.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 (see table below). 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.