SALSA MLPA P203 PKLR probemix - 100 reactions

application: Haemolytic Anaemia, hereditary non-spherocytic
region: PKLR 1q22 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P203-100R

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

Detailní popis SALSA MLPA P203 PKLR probemix - 100 reactions

P203-025R SALSA MLPA P203 PKLR probemix – 100 rxn

description
Pyruvate kinase (PK) deficiency is a common cause of hereditary non-spherocytic haemolytic anaemia. PK is an autosomal recessive disorder commonly caused by mutations in the gene encoding erythrocyte and liver-type pyruvate kinase (PKLR), a key enzyme of the glycolytic pathway. The clinical symptoms of the disease can be variable, ranging from chronic non-spherocytic haemolytic anaemia to neonatal jaundice requiring erythrocyte transfusions.

The PKLR gene (12 exons) spans ~12.1 kb of genomic DNA and is located on chromosome 1q22, ~153.5 Mb from the p-telomere. Missense mutations in the PKLR gene are the most common cause of the disease, but small PKLR deletions and insertions have also been described. It is not yet known what role larger PKLR deletions play in the occurrence of the disease.

This probemix contains probes for all exons of the PKLR gene. 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 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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