[./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 P159 GLA
Defects in the GLA gene on chromosome X is a cause of Fabry Disease. FABRY DISEASE is characterized by attacks of pain in the abdomen and elsewhere, such as in the extremities. This is probably caused by lipid changes in ganglion cells of the autonomic nervous system. Vascular lesions of lipid nature occur at other sites such as the ocular fundi and kidney. Renal failure is the usual cause of death. Heterozygous females almost never have skin lesions and survive longer despite renal involvement. The GLA gene comprises 7 exons and spans about 10 kb of genomic DNA on chromosome Xq22. The GLA probemix contains 8 GLA probes, located in 7 different GLA exons. This MLPA kit is designed to detect deletions of one or more exons of the GLA genes. 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 therefore always require confirmation by other methods. We have no information on what percentage of defects in this gene is caused by deletions/duplications of complete exons. Please note that most defects in this gene 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 Update Probe mix description: Vs. 03; 02-01-2007 Last change in probe mix content: Lot 0107 (Jan 2007) Current Lot Number.: Lot 0107
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]