[./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 P194 MCCC
[http://www.geneclinics.org/profiles/hht/details.html]
Defects in the MCCC1 gene on chromosome 3q27 and the MCCC2 gene on chromosome 5q12 are the main cause of 3-methylcrotonylglycinuria I and II. The proteins encoded by these genes are the alpha and beta subunit of 3-methylcrotonyl-CoA carboxylase, a biotin-dependent mitochondrial enzyme essential for the catabolism of leucine. The MCCC1 gene comprises 19 exons, spanning about 85 kb of genomic DNA on chromosome 3q27. The MCCC2 gene comprises 17 exons, spanning about 70 kb of genomic DNA on chromosome 5q12. The P194 MCCC1 probemix contains MLPA probes for each of the exons of these two genes. This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the MCCC1 and MCCC2 genes. Heterozygote deletions of probe recognition sequences should give a 35-50% reduced relative peak area of the amplification product of that probe. However, mutations and/or polymorphisms very close to the probe ligation site may also result in a reduced relative peak area. Therefore, apparent deletions detected by a single probe 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 (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 0606 (June 2006) : lot 0606
[Web Creator] [LMSOFT]