SALSA MLPA P430 PLCG2 probemix - 100 reactions

Cold-induced urticaria.

region: 16q23 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P430-100R

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Detailní popis SALSA MLPA P430 PLCG2 probemix - 100 reactions

P430-025R SALSA MLPA P430 PLCG2 probemix – 100 rxn

The PLCG2 gene encodes the enzyme phospholipase Cγ2 (PLCγ2), a member of the phospholipase C family which catalyses the formation of DAG and IP3, important second messengers for transmitting signals from growth factor receptors and immune system receptors thereby regulating immune response.
Deletions in the PLCG2 gene has recently been identified in several families with cold-induced urticaria, antibody deficiency, and susceptibility to infection and autoimmunity (Ombrello et al., 2012).

The PLCG2 gene (33 exons) spans ~179 kb of genomic DNA and is located on chromosome 16q23.3, about 82 Mb from the p-telomere. The P430-A1 PLCG2 probemix contains probes for each exon of the PLCG2 gene, including two probes for exons 2, 19, 21, and 22. In addition, 9 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(s) 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. 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. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons.

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