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SALSA MS-MLPA KIT ME028 PRADER WILLI/ ANGELMAN
[http://www.geneclinics.org/profiles/hht/details.html]
PRADER-WILLI SYNDROME (PWS) and ANGELMAN SYNDROME (AS) are distinct neurogenetic disorders characterized by chromosomal deletions on chromosome 15q11-q13 or by uniparental disomy. The chromosomal alterations result in an aberrant expression profile of gene loci that are subject to imprinting. Absence of a paternal allele of chromosome 15q11-q13, due to chromosomal deletion or uniparental disomy, results in PWS. The absence of the maternal copy of the same region causes AS. This MS-MLPA kit ME028 can be used to detect copy number changes, as well as to analyze CpG island methylation of the 15q11-13 region in a semi-quantitative manner. MLPA probes for methylation quantification are similar to normal MLPA probes. However, the sequence detected by the MS-MLPA probes contains a recognition sequence for the methylation sensitive restriction enzyme HhaI. In the MS-MLPA procedure, the complex obtained after hybridizing the probes to the sample DNA is digested by the HhaI restriction endonuclease. Probes that are hybridized to an unmethylated site are digested and will therefore not produce a signal. In contrast, if the sample DNA sequence detected by the probe is methylated, a probe signal will be generated. This ME028 PWS/AS probemix contains 25 probes specific for sequences in or near the PWS/AS critical region of chromosome 15q11-q13, which can be used to detect copy number changes in this region. Five of these probes contain a HhaI recognition site, are specific for an imprinted sequence and can thus be used to detect uniparental disomy. As a control for copy number changes, 18 probes for genes located outside the PWS/AS region are present. Three of these probes contain a HhaI recognition site which is unmethylated in most blood derived control DNA samples. These three probes can be used to check complete digestion by the HhaI enzyme in the methylation quantification reaction.
Full mix description (pdf)
Last change in probe mix content: Lot 0505 (May 2005) Current Lot Number.: Lot 0508
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 2007 -- Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment. 2006 -- Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation. 2006 -- Molecular Diagnosis of Prader-Willi and Angelman Syndromes by Methylation-Specific Melting Analysis and Methylation-Specific Multiplex Ligation-Dependent Probe Amplification. 2006 -- Analysis of a group of probands with Prader-Willi and Angelman syndromes by the MS-MLPA method. 2006-- Evaluation of MS-MLPA for molecular diagnosis of Prader-Willi and Angelman syndrome in a clinical context.
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