SALSA MLPA P094 MEFV probemix - 50 reactions

SALSA MLPA P094 MEFV probemix - 50 reactions

application: Mediterranean fever, familial (MEFV)
region: MEFV 16p13.3 Detailní informace

Cena s DPH € 588.06
Cena bez DPH € 486.00
 50 react
Dostupnost Skladem
Kód produktu P094-050R

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

Detailní popis SALSA MLPA P094 MEFV probemix - 50 reactions

Familial Mediterranean Fever (FMF) is an autosomal recessive disorder characterised by recurrent attacks of fever and inflammation in the peritoneum, synovium, or pleura, accompanied by pain. Amyloidosis with renal failure is a complication and may develop without overt crises. The disease is caused by defects in the MEFV gene encoding the protein pyrin. The most common cause is methionine to valine transition (M694V) in the MEFV gene and is associated with a more severe phenotype. Copy number changes in this gene, however, appear to be rare.
Carrier rate for the disease is very high in several countries, including Armenia, Turkey, Israel and many Arab countries. Phenotype of the disease can be quite variable, probably reflecting the different mutations.

The MEFV gene (10 exons) spans ~14.6 kb of genomic DNA and is located on chromosome 16p13.3, ~3 Mb from the p-telomere. The P094 probemix contains probes for all 10 exons of the gene, including 2 probes upstream of exon 1, 2 probes for exon 2 and a probe detecting the wildtype sequence for the M694V mutation. 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 these genes are expected to be small (point) mutations, most of which will not be detected by this SALSA® MLPA® test.

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