[./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 P098 WILSON
[http://www.geneclinics.org/profiles/hht/details.html]
WILSON DISEASE is an autosomal recessive disorder characterized by dramatic build-up of intracellular hepatic copper with subsequent hepatic and neurologic abnormalities. The ATP7B gene product was found to have characteristics of a copper transporting ATPase. The ATP7B gene has 21 exons, spans 75 Kb of chromosomal sequence and is located on chromosome 13q14.3. The probe mix included in this kit contains probes for 15 of the 21 exons. As a control, 12 probes for other human genes located on different chromosomes are included. We included two probes for the first exon because exon 2 is very far away (36 Kb). No probes are present for exons 9, 11, 12, 16, 19 and 21 which are in close proximity to neighbouring exons. This MLPA kit is designed to detect deletions / duplications of one or more exons of the ATP7B gene. Deletions of probe recognition sequences will be apparent by a 35-50% reduced relative peak area of the amplification product of that probe. However, mutations / polymorphisms very close to the probe ligation site may also result in a reduced relative peak area. Apparent deletions of a single exon will therefore always require confirmation by other methods. We have no information on the percentage of defects in the genes that are caused by deletions / duplications of complete exons. Please note that most defects in these genes are expected to be small (point) mutations, most of which will not be detected by this MLPA test.
Full mix description (word)
Full mix description (pdf)
Last change in probe mix content: Lot 0105 (Oktober-2005) Current Lot Number.: Lot 1107
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]
[Web Creator] [LMSOFT]