[./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 P199 HEXA
[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM&cmd=Limits]
TAY-SACHS DISEASE is an autosomal recessive, progressive neurodegenerative disorder which, in the classic infantile form, is usually fatal by age 2 or 3 years. Defects in the HEXA gene encoding the alpha subunit of the hexosaminidase enzyme are the cause of Tay-Sachs disease. Some less severe defects in the HEXA gene cause a late onset form of the disease. Due to some founder mutations, Tay-Sachs disease is frequent among Ashkenazi Jews. This P199 probemix contains two probes that are specific for frequent Ashkenazi Jew founder mutations. The HEXA gene comprises 14 exons, spanning more than 32 kb of genomic DNA on chromosome 15q23.This P199 HEXA kit contains 20 MLPA probes for HEXA sequences. Two of these probes are specific for certain frequent point mutations: 1277TATC (166 nt) and IVS12+1G>C (172 nt). The 1277TATC mutation is found in 80% of the carriers of Tay-Sachs disease from the Ashkenazi Jew population. A deletion of 7.5 Kb, including all of exon 1, is the major mutation found in Tay-Sachs disease carriers from the French-Canadian population. This MLPA kit is designed to detect deletions/duplications of one or more exons of the HEXA 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 therefore always require confirmation by other methods. We have no information on what percentage of defects in these genes is 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)
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]
[./p123pag.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 update probemix description Last change in probemix content Current lot number
: vs. 02; 02-01-2007 : lot 0107 (Jan 2007) : lot 0107
[Web Creator] [LMSOFT]