SALSA MLPA P272 COL1A2 probemix - 100 reactions

application: Osteogenesis imperfecta (OI)
region: COL1A2 7q21.3 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P272-100R

Nejnovější informace o produktu naleznete exklusivně na stránkách výrobce MRC-Holland www.mlpa.com (nové okno)

Detailní popis SALSA MLPA P272 COL1A2 probemix - 100 reactions

P272-025R SALSA MLPA P272 COL1A2 probemix – 100 rxn

description
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 alpha-1 polypeptide chains and one alpha-2 polypeptide chain. The alpha-1 polypeptide is encoded by the COL1A1 gene and the alpha-2 polypeptide by the COL1A2 gene.

Osteogenesis imperfecta (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.

The COL1A2 gene (52 exons) spans ~36.7 kb of genomic DNA and is located on chromosome 7q21.3, 93.9 Mb from the p-telomere. The P272-B1 probemix contains 36 probes for the COL1A2 gene. In addition, 8 reference probes are included in this probemix, detecting several different autosomal chromosomal locations.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned gene in a DNA sample. Heterozygous deletions of recognition sequences should give a 35 50% reduced relative peak area of the amplification product of that probe. Note that a mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak area, even when not located exactly on the ligation site! In addition, some probe signals are more sensitive to sample purity and small changes in experimental conditions. Therefore, deletions and duplications detected by MLPA should always be confirmed by other methods. Not all deletions and duplications detected by MLPA will be pathogenic; users should always verify the latest scientific literature when interpreting their findings. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Finally, note that most defects in this gene are expected to be small (point) mutations which will not be detected by this SALSA® MLPA® test.
 

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