[./productpagepag.html]
[./indexpag.html]
[./support_pagepag.html]
[./contactpagepag.html]
Copyright © 2005 - MRC-Holland
[./indexpag.html]
Home
-
[./productpagepag.html]
Products
-
[./support_pagepag.html]
Support
-
[./article_pagepag.html]
Articles
-
[./contactpagepag.html]
contact
SALSA MLPA KIT P219 PAX6
[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM&cmd=Limits]
SALSA MLPA kit P097 OPA1-PAX6 has been replaced by P229 Macular Dystrophy (OPA1 probes) and the P219 PAX6 (PAX6 Aniridia probes). In the eye morphogenesis in humans 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. PAX6 is located on chromosome 11p13 and has 14 exons. WT1 is required for at least two critical function during retinogenesis: proliferation of the progenitor cells and development of the retinal ganglion cells. The WT gene has 10 exons, spanning approximately 48 Kb of genomic sequence on chromosome 11p13. The WT1 gene is often codeleted with PAX6 in patients with WAGR syndrome. More MLPA probes for WT1 exons are present in the P118 WT1 probemix. This P219A PAX6 probemix contains probes for all exons of PAX6 with the exception of exon 6. Besides several probes for WT1 exons, as well as probes for two hypothetical genes, LOC645981 and LOC646008 in the region, between PAX6 and WT1, probes are present. The kit also includes probes for the genes BDNF flanking upstream from PAX6 and probes for the genes HIPK3, LMO2 and EHF downstream from WT1.
Full mix description (pdf)
IMPORTANT NOTICE: MLPA kits are sold by MRC-Holland for research purposes and to demonstrate the possibilities of the MLPA technique. This kit is not CE/FDA certified for use in diagnostic procedures. Salsa MLPA kits are supplied with all necessary buffers and enzymes. Purchase of the Salsa MLPA test kits includes a limited license to use these products for research purposes. The use of this MLPA kit requires a thermocycler with heated lid and sequence type electrophoresis equipment. Different fluorescent PCR primers are available. The MLPA technique has been first described in Nucleic Acid Research 30, e57 (2002)
References
[./order_infopag.html]
[./products_prenatal_and_postnatalpag.html]
[./products_hereditary_cancer_researchpag.html]
[./products_various_syndromespag.html]
[./products_tumor_characterisationpag.html]
[./products_mrna_analysispag.html]
[./products_methylation_specificpag.html]
[./products_otherpag.html]
[./products_pharmacogeneticspag.html]
[./mlpapricelistpag.html]
Last change in probemix content Current lot number
: lot 0408 (April 2008) : lot 0408
[Web Creator] [LMSOFT]