Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P367 BEST1 PRPH2 probemix - 100 reactions

SALSA MLPA P367 BEST1 PRPH2 probemix - 100 reactions

SALSA MLPA P367 BEST1 PRPH2 probemix - 100 reactions

application: Macular Dystrophy, Vitelliform
region: BEST1 (=VDM2), PRPH2 (=RDS) Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P367-100R

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

Detailní popis SALSA MLPA P367 BEST1 PRPH2 probemix - 100 reactions

P367-025R SALSA MLPA P367 BEST1-PRPH2 probemix – 100 rxn

description
Please note that this P367-A2 probemix contains the probes for BEST1 (=VMD2) and PRPH2 (=RDS) that have been removed from SALSA® MLPA® probemix P229 OPA1.

Vitelliform macular dystrophy is a genetic eye disorder that can cause progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. The early-onset form (known as Best disease) usually appears in childhood; the onset of symptoms and the severity of vision loss vary widely. The adult-onset form begins later, usually in mid-adulthood, and tends to cause vision loss that worsens slowly over time. The two forms of vitelliform macular dystrophy each have characteristic changes in the macula that can be detected during an eye examination. Defects in the gene BEST1 (=VMD2) on chromosome 11 are responsible for Best disease and for some cases of the adult-onset form of vitelliform macular dystrophy. Changes in the PRPH2 (=RDS) gene on chromosome 6 can also cause the adult-onset form of vitelliform macular dystrophy.

The BEST1 gene (11 exons) spans ~15 kb of genomic DNA and is located on 11q13, ~62 Mb from the p-telomere. The P367-A2 probemix contains one probe for each exon of the BEST1 gene. The PRPH2 gene (3 exons) spans ~26 kb of genomic DNA and is located on 6p21.1, ~43 Mb from the p-telomere. The P367-A2 probemix contains two probes for PRPH2 exon 2 and one probe each for PRPH2 intron 1 and exons 1 and 3. 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 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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