SALSA MLPA P436 ANO5 probemix - 50 reactions

Limb-girdle muscular dystrophy.

region: ANO5 gene Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P436-050R

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Detailní popis SALSA MLPA P436 ANO5 probemix - 50 reactions

P436-025R SALSA MLPA P436 ANO5 probemix – 50 rxn

Limb girdle muscular dystrophy type 2L (LGMD2L) or anoctaminopathy is a condition mainly characterised by adult onset proximal lower limb muscular weakness and raised CK values, due to recessive anoctamin 5 (ANO5) gene mutations. This gene encodes a member of the anocatmin family of transmembrane proteins, and the encoded protein is likely a calcium activated chloride channel. An exon 5 founder mutation (c.191dupA) represents 61% of mutated alleles and appears to be more prevalent in Northern European populations (Sarkozy et al. 2013 Hum Mutat). c.191dupA lead to a frame shift and premature truncation, strongly suggest that c.191dupA is associated with a loss of ANO5 function (Bolduc et al. 2010 Am J Hum Genet).

The ANO5 gene (22 exons) ~90 kb of genomic DNA and is located at 11p14.3, 22 MB from the p-telomere. The P436-A1 probemix contains one probe for every exon, two probes for exon 1, 7 and 19 and three probes for exon 22. Furthermore, the probemix contains a mutation specific probe for c.191dupA which will only generate a signal when the mutation is present. The exon 5 probe detects the wild-type sequence of the c.191dupA mutation, therefore the signal will decrease when the mutation is present. In addition, 10 reference probes are included in this probemix, detecting several different autosomal chromosomal locations.

SD033 Sample DNA: Please note that the mutation-specific probe for c.191dupA has only been tested on control plasmids and not on positive human DNA samples with the c.191dupA! This SD033 sample DNA is provided with each probemix vial and can be used as a positive control for the mutation-specific probe (see vial with blue cap).

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