[./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 P071 Leukodystrophy
[http://www.geneclinics.org/profiles/hht/details.html]
Leukodystrophies are a heterogeneous group of rare hereditary diseases affecting the central nervous system. Leukodystrophies are characterized by the imperfect development or maintenance of the white matter (myelin sheath covering nerve fibers in the brain). The age of onset is typically during infancy or childhood as in the case of Pelizaeus-Merzbacher disease (PMD) and leukoencephalopathy. Adult-onset autosomal dominant leukodystrophy (ADLD), is a slowly progressive, neurological disorder characterized by symmetrical widespread myelin loss in the CNS. The ADLD phenotype is similar to that of chronic progressive multiple sclerosis (MS). Autosomal dominant hereditary leukodystrophy has been associated with duplications of the nuclear lamin protein lamin B1 gene (LMNB1 gene; Nature Genetics; 10, 1114-1123). Hereditary leukodystrophies are also associated with the PMD disease. PMD is caused by mutations in, or a duplication of the myelin proteolipid protein (PLP1) gene (Warshawsky et al. 2006). Mutations in the Notch3 gene (CADASIL) are the cause of Leukoencephalopathy. The P071-A1 Leukodystrophy probemix contains probes for each of the 11 exons (2 probes in exon 1) of the LMNB1 gene which spans 60 kb of human genomic DNA on chromosome 5q23.2. In addition, the P071 probemix contains probes for each exon of the PLP1 gene that spans 16 kb on chromosome Xq22.2. Four probes are included for the Notch3 gene which spans 41 kb on chromosome 19p13.12. Finally, one probe for HNRPH2 (Xq22.1), AR (Xq12), PAK3 (Xq22.3), and FRMD7 (Xq26) are included in this probemix, which are located on the X-chromosome, just like PLP1. The P071-A1 Leukodystrophy probemix contains 10 reference probes, which detect sequences on different autosomal chromosomes. Please note that the PLP1 probes in P071 detect the same sequences as the probes in the P022 PLP1 probemix.
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 0508 (May 2008) : lot 0508
[Web Creator] [LMSOFT]