SALSA MLPA P197 KCNQ3 probemix - 100 reactions

application: Neonatal convulsions type 2, familial (BFNC2), Epilepsy benign neonatal type 2 (EBN2)
region: KCNQ3 8q24.22 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P197-100R

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

Detailní popis SALSA MLPA P197 KCNQ3 probemix - 100 reactions

P197-100R SALSA MLPA P197 KCNQ3 probemix – 100 rxn

Epilepsy can be caused by mutations in of one or more exons of the KCNQ3, CHRNA4, EPM2A, NHLRC1 (also known as EPM2B or malin) and CHRNB2 genes.

Defects in the KCNQ3 gene can cause benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). The KCNQ3 gene comprises 15 exons and spans 352 kb of genomic DNA on chromosome 8q24.22. This SALSA® MLPA® P197-A1 KCNQ3 probemix contains 15 probes for KCNQ3 exons. Two probes are present for exon 1, no probe is present for exon 7.

The CHRNA4 gene comprises 6 exons, spanning 16 kb of genomic DNA on chromosome 20q13.33. Mutations in this gene appear to account for a  small proportion of the cases of nocturnal frontal lobe epilepsy. This SALSA® MLPA® P197-A1 KCNQ3 probemix contains one probe for each CHRNA4 exon.

Mutations in the EPM2A gene have been associated with myoclonic epilepsy of Lafora. The EPM2A gene encodes the laforin protein, comprises 4  exons and spans 109 kb of genomic DNA on chromosome 6q24.3. This SALSA® MLPA® P197 KCNQ3 probemix contains probes for each of the four EPM2A exons.

The NHLRC1 (EPM2B) gene encodes the malin protein, comprises 1 exon and spans 1.5 kb of genomic DNA on chromosome 6p22.3. Mutations in NHLRC1 (EPM2B) cause progressive myoclonus epilepsy. Two probes for NHLRC1 have been included in this probemix.

Mutations in this gene are associated with autosomal dominant nocturnal frontal lobe epilepsy. The CHRNB2 gene comprises 6 exons and spans 8.5 kb of genomic DNA on chromosome 1q21.3. This SALSA® MLPA® P197 KCNQ3 probemix contains probes for two CHRNB2 exons.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned genes 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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