Úvod Reagencie Neurogenetics & mental retardation SALSA MLPA P104 Menkes probemix - 25 reactions

SALSA MLPA P104 Menkes probemix - 25 reactions

application: Menkes disease
region: ATP7A Xq13.3
  Detailní informace

Cena s DPH € 286.77
Cena bez DPH € 237.00
 25 react
Dostupnost Na dotaz
Kód produktu P104-025R

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

Detailní popis SALSA MLPA P104 Menkes probemix - 25 reactions

P104-025R SALSA MLPA P104 Menkes ATP7A probemix – 25 rxn

Copper is an essential trace element that requires tightly regulated homeostatic mechanisms to ensure adequate supplies without any toxic effects because of the ability of the metal ion to catalyse the formation of free radicals. The Cu-ATPases, ATP7A and ATP7B play an important role in the physiological regulation of copper. Adequate supplies of copper are particularly important in developing animals, and in humans this is illustrated by mutations of ATP7A that cause the copper deficiency condition Menkes disease. Menkes disease is an X-linked recessive disorder characterised by early retardation in growth, peculiar hair, and focal cerebral and cerebellar degeneration.

Moller L.B. et al reported that partial gene deletions and duplications account for respectively 17 and 5% of ATP7A mutated alleles in Menkes disease patients (http://www.researchgate.net/publication/267027743), with the remaining 78% being point mutations.

The ATP7A gene (23 exons) spans ~140 kb of genomic DNA and is located on chromosome Xq21.1, about 77 Mb from the p-telomere. The P104-B2 probemix contains one probe for each exon of the ATP7A gene and two probes for exon 1 and exon 2. In addition, 9 reference probes are included in this probemix, detecting several different locations on the X-chromosome.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned gene in a DNA sample. Deletions of a probe’s recognition sequence on the X-chromosome will lead to a complete absence of the corresponding probe amplification product in males, whereas female heterozygotes are recognisable by a 35 50% reduction in relative peak height. Note that a  mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak height, 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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