Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P221 LCA mix-1 probemix - 50 reactions

SALSA MLPA P221 LCA mix-1 probemix - 50 reactions

application: Leber congenital amaurosis (LCA)
region: AIPL1 17p13, CRB1 1q31, CRX 19q13, RPE65 1p31 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P221-050R

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

Detailní popis SALSA MLPA P221 LCA mix-1 probemix - 50 reactions

P221-025R SALSA MLPA P221 LCA mix-1 probemix – 50 rxn

description
Leber congenital amaurosis (LCA) is the most common inherited cause of blindness in childhood and is characterized by a severe retinal dystrophy before the age of one year. LCA affects around 1 in 80.000 of the population. This disorder is typically characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. Twelve genes are currently known to be associated with LCA. MLPA probes for five of these twelve genes are included in this probemix.

The AIPL1 gene (6 exons) spans ~12 kb on chromosome 17p13.2, 6,3 Mb from the p-telomere. This probemix contains one MLPA probe for each exon. The CRB1 gene (16 exons) spans ~210 kb on chromosome 1q31.3, 197 Mb from the p-telomere. This probemix contains one probe for each exon except for exon 1, 3, 4 and 11. For exon 9B and 13A, a second independent probe is present. The CRX gene (4 exons) spans ~22 kb on chromosome 19q13.33, 48 Mb from the p-telomere. This probemix contains one probe for each exon. The LCA5 gene (9 exons) spans ~52 kb on chromosome 6q14.1, 80 Mb from p-telomere. This probemix includes one probe per exon. The RPE65 gene (14 exons) spans ~21 kb on chromosome 1p31.2, 69 Mb from p-telomere. This probemix contains one MLPA probe for each exon.

The database of genomic variants mentions several copy number changes in CRB1 that have been found in healthy individuals (see http://projects.tcag.ca/variation).

In addition, 8 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 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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