SALSA MLPA P219 PAX6 probemix - 50 reactions

application: Ocular malformations, hereditary
region: PAX6 11p13, SOX2 3q26, WT1, 11p13 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P219-050R

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

Detailní popis SALSA MLPA P219 PAX6 probemix - 50 reactions

P219-025R SALSA MLPA P219 PAX6 probemix – 50 rxn

description
In the human eye morphogenesis a molecular genetic cascade is involved. A number of developmental genes interact in a highly organized process during the embryonic period, to produce functional ocular structures. During the early stages of eye development, PAX6 induces the differentiation of progenitor cells into neurons in the retina, as well as the expression of crystallins in lens epithelial cells. PAX6 mutations lead to a variety of hereditary ocular malformations of the anterior and posterior segment that includes aniridia, coloboma of the iris, keratitis, congenital cataracts, Peter’s anomaly, and optic nerve defects.
WT1 is required for at least two critical functions during retinogenesis: proliferation of the progenitor cells and development of the retinal ganglion cells. The WT1 gene is often co-deleted with PAX6 in patients with WAGR syndrome.
The SOX2 gene on chromosome 3q26 encodes a transcription factor involved in the regulation of embryonic development. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation.

The PAX6 gene (15 exons) spans ~33.2 kb of genomic DNA and is located on chromosome 11p13, ~31.8 Mb from the p-telomere. The WT1 gene (11 exons) spans ~47.8 kb of genomic DNA and is located on chromosome 11p13, ~32.4 Mb from the p-telomere. The SOX2 gene (1 exon) spans ~2.5 kb of genomic DNA and is located on chromosome 3q26, ~182.9 Mb from the p-telomere.

The P219-B2 probemix contains one probe for each exon of the PAX6 gene with the exception of exon 7 and 13 and two for exon 2a. This probemix furthermore contains several probes for WT1 exons, as well as probes for two hypothetical genes, LOC645981 and LOC646008, and the gene RCN1 which are all located in the region between PAX6 and WT1. The probemix also includes probes for the genes BDNF, FSHB, DCDC1, and ELP4 flanking PAX6 telomeric and probes for the genes HIPK3, LMO2, EHF, and CD44 centromeric of WT1. Furthermore, three probes are present for the SOX2 gene. 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 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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