Úvod SALSA MLPA P236 ARMD mix-1 probemix - 25 reactions

SALSA MLPA P236 ARMD mix-1 probemix - 25 reactions

application: Age-related macular degeneration (ARMD)
region: CFH, CFHR3, CFHR1, CFHR2, 1q23 Detailní informace

Cena s DPH € 286.77
Cena bez DPH € 237.00
 25 react
Dostupnost Na dotaz
Kód produktu P236-025R

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

Detailní popis SALSA MLPA P236 ARMD mix-1 probemix - 25 reactions

P236-025R SALSA MLPA P236 ARMD mix-1 probemix – 25 rxn

description
Age-related macular degeneration (ARMD) is a major cause of blindness in the elderly. ARMD is characterised by progressive destruction of the retina’s central region (macula), causing central field visual loss. Contributions of environmental factors and genetic susceptibility have been identified. Up to 50% of the genetically attributable risk of age-related macular degeneration appears to be linked to the 1q32 chromosomal region, in particular to a copy number variation in the CFH gene area. The CFH gene is located on 1q32, consists of 23 exons and measures 97.7 kb. A second major ARMD susceptibility allele was identified in the ARMS2 gene (LOC387715) on 10q26 (SNP rs10490924). A third locus has been identified in the C2/CFB region (SNPs rs9332739 and rs641153). The C2 and CFB genes are located on chromosome 6p21, encoding complement component 2 and complement factor B.

The CFH, CFHR3, CFHR1, CFHR2 genes are arranged in tandem on chromosome 1q23, approximately 197 Mb from p-telomere, where they span 355 kb at the proximal end of a cluster of genes involved in regulation of the complement activation. A complement cascade is implicated in formation of drusen. Drusen are deposits that are formed between Bruch’s membrane and the retinal pigment epithelium in eyes, which show an early sign of ARMD. Deletion of the CFHR1 and CFHR3 genes is common and has recently been linked to a lower risk on ARMD. This deletion was found in nearly 20% of the chromosomes of control individuals and only 7.8% of the chromosomes of individuals with AMD (Hughes, A.E. et al., Nat Genet. 38:1173-77, 2006).

This P236-A3 ARMD probemix contains probes covering the chromosomal 1q23 region around the CFH gene. It includes 13 probes for the CFH gene, 8 probes for CFHR3, 5 probes for CFHR1 and 4 probes for CFHR2, as well as 5 probes in the flanking genes KCNT2 and CFHR5. In addition, 6 probes for polymorphic sequences (SNPs) are present in P236. For the relevance for ARMD of these SNP specific probes, we refer to the articles of Li M. et al., Nat Genet. 38: 1049-54 and Maller J. et al., Nat Genet. 38:1055-9. Furthermore, 8 reference probes are included in this probemix, detecting different autosomal chromosomal locations.

This P236-A3 ARMD probemix was also used to measure copy number changes and to detect mutations in patients with the polygenic autoimmune disease systemic lupus erythematosus (SLE) [Zhao et al., PLoS Genet, 2011, 7(5):e1002079] and in patients with atypical hemolytic uremic syndrome (aHUS) [Moore et al. (Blood, 2010, 115(2):379-87)].

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. 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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