Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P357 MODY mix-2 probemix - 50 reactions

SALSA MLPA P357 MODY mix-2 probemix - 50 reactions

SALSA MLPA P357 MODY mix-2 probemix - 50 reactions

application: Maturity-Onset Diabetes of the Young (MODY)

region: MODY 4; 6-10 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P357-050R

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

Detailní popis SALSA MLPA P357 MODY mix-2 probemix - 50 reactions

P357-025R SALSA MLPA P357 MODY mix-2 probemix – 50 rxn

description
The discount applies only for the complete kit and the probemix only, but not for the mixed kit.

This SALSA® MLPA® kit is for basic research only! This kit enables you to determine the copy number of several genes for which a link has been described between a point mutation in that gene and the MODY phenotype. However, for several of these genes, the relationship between copy number variants and phenotype is not yet clear and interpretation of MLPA results can therefore be complicated. MRC-Holland cannot provide assistance with interpretation of results obtained with this product, and recommends thoroughly screening any available literature. Suggestions from specialists for improvement of this product or this product description are highly appreciated.

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 P357-A1 MODY mix 2 probemix contains probes for the PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4 and INS genes. This probemix is therefore specific for MODY 4 and MODY 6-10. In addition, 10 reference probes are included in this probemix, detecting 10 different autosomal chromosomal locations.

The widely used probemix P241 MODY mix 1 contains probes for the HNF4A, GCK, HNF1A and HNF1B genes involved in MODY types 1-3 and 5. For these genes a clear relation has been described between copy number changes of the genes and the MODY phenotype or the renal cysts and diabetes (RCAD) syndrome.

This SALSA® MLPA® kit 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 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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