Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P136 Gitelman probemix - 100 reactions

SALSA MLPA P136 Gitelman probemix - 100 reactions

SALSA MLPA P136 Gitelman probemix - 100 reactions

application: Gitelman syndrome
region: SLC12A3 16q13 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P136-100R

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

Detailní popis SALSA MLPA P136 Gitelman probemix - 100 reactions

P136-100R SALSA MLPA P136 Gitelman syndrome probemix – 100 rxn

THE GITELMAN VARIANT OF BARTTER SYNDROME (OMIM 263800) is an autosomal recessive disorder characterised by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity. It is caused by defects in the SLC12A3 gene on chromosome 16. Heterozygous carriers do not show the Gitelman phenotype.

The SLC12A3 gene (26 exons) spans ~50 kb of genomic DNA and is located on chromosome 16q13, about 57 Mb from the p-telomere. The P136-B2 probemix contains one probe for each of the 26 exons of the SLC12A3 gene. In addition, 16 reference probes are included in this probemix, detecting several different autosomal chromosomal locations.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned gene 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 these genes are expected to be small (point) mutations, most of which will not be detected by this SALSA® MLPA® test.

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