SALSA MLPA P309 MTM1 probemix - 50 reactions

SALSA MLPA P309 MTM1 probemix - 50 reactions

Myotubular myopathy, x-linked (XLMTM).

region: MTM1 Xq28, MTMR1 Xq28 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P309-050R

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

Detailní popis SALSA MLPA P309 MTM1 probemix - 50 reactions

P309-025R SALSA MLPA P309 MTM1 probemix – 50 rxn

Defects in the MTM1 gene on chromosome Xq28 are the main cause of X-linked myotubular myopathy (XLMTM). The protein encoded by this gene belongs to a family of putative tyrosine phosphatases. The MTMR1 gene is located at very short distance from the MTM1 gene. The two genes are related and it has been suggested that they originate from an intrachromosomal gene duplication. Deletions including both (or part of) MTM1 and MTMR1 have been described. However, the consequence of MTMR1 deletion is not yet clear.

The MTM1 gene (15 exons) spans ~105 kb of genomic DNA and is located at chromosome Xq28, ~150 Mb from the p-telomere. The MTMR1 gene (15 exons) spans ~72 kb of genomic DNA and is also located at chromosome Xq28, telomeric, at a distance of only ~20 kb from the MTM1 gene.

This P309-B1 MTM1 probemix contains probes for each of the MTM1 exons, with the exception of exon 12. In addition, it contains 7 probes for the MTMR1 gene, three probes located elsewhere on Xq28 and 11 reference probes spread over the rest of the X chromosome.

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