SALSA MLPA P432 MYH9 probemix - 100 reactions

Macrothrombocytopenia.

region: 22q12.3 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P432-100R

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

Detailní popis SALSA MLPA P432 MYH9 probemix - 100 reactions

P432-025R SALSA MLPA P432 MYH9 probemix – 100 rxn


description
The MYH9 gene encodes the non-muscle myosin (heavy chain, type II-A), which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Mutations/defects in the MYH9 gene results in MYH9-related hereditary macrothrombocytopenia (HMTC), including four autosomal dominant platelet disorders: May-Hegglin anomaly (MHA), Sebastian (SBS), Fechtner (FS) and Epstein (EPS) syndrome.

The MYH9 gene (41 exons) spans ~107 kb of genomic DNA and is located on 22q12.3, 36.7 Mb from the p-telomere. The P432-A1 probemix contains one probe for each exon of the gene with the exception of exon 36 and two probes for exon 31 and exon 41. Possible copy number changes of this genomic region in healthy individuals can be found in the database of genome variants (http://projects.tcag.ca/variation). Furthermore, this probemix contains two mutation-specific probes for the c.287C>T (=p.S96L) and c.2104C>T (=p.R702C) mutations, and one probe that detects the wild type sequence of the c.4270G>C/A/T (=p.D1424H/N/Y) mutation. In addition, 8 reference probes are included in this probemix, detecting several different autosomal chromosomal locations.

SD035 Sample DNA: Please note that the mutation-specific probes have only been tested on control plasmids and not on positive human DNA samples with the 287C>T and 2104C>T point mutations! The SD035 sample DNA is provided with each probemix vial and can be used as a positive control for the mutation-specific probes (see vial with blue cap).

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned gene and to detect the presence of the three aforementioned point mutations 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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