SALSA MLPA P241 MODY probemix - 50 reactions

application: Maturity-Onset Diabetes of the Young (MODY)
region: MODY 1, 2, 3; 5 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P241-050R

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

Detailní popis SALSA MLPA P241 MODY probemix - 50 reactions

P241-025R SALSA MLPA P241 MODY mix-1 probemix – 50 rxn

description
Maturity-Onset Diabetes of the Young (MODY) is a distinct form of non insulin-dependent diabetes mellitus (NDDM), also known as type II diabetes. MODY has a clear autosomal inheritance and it generally develops in individuals under 25 years of age. Approximately 5% of all diabetes patients suffer from MODY. As described in more detail on page 2, eleven forms of MODY have now been identified with the highest prevalence for MODY 2 and 3. Each form of MODY has been associated with one gene.

This P241-D2 MODY probemix contains probes for GCK, HNF1A, HNF1B and HNF4A genes and is therefore specific for MODY 1, 2, 3 and 5. A total of 42 probes are present for these four genes. In addition, 8 reference probes are included in this probemix, detecting 8 different autosomal chromosomal locations.

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 height 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 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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