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SALSA MLPA KIT P064 MR1
Copy number changes of several chromosomal regions are known to cause mental retardation syndromes such as Smith-Magenis syndrome, Williams syndrome, 1p deletion syndrome, Miller-Dieker syndrome. These syndromes are not always easily diagnosed, as the common clinical findings associated with a particular syndrome are often not all present in each patient or vary between patients from different races. This SALSA MLPA P064-B2 Mental Retardation-1 (MR1) kit provides a simple test to screen DNA samples for deletions and duplications of certain chromosomal regions which are frequently involved in the following syndromes: 1p-deletion syndrome: 7 probes in the 1p36 telomeric region. Williams syndrome: 6 probes in the 7q11.23 Williams syndrome region. Smith-Magenis syndrome: 5 probes in the 17p11.2 Smith-Magenis region. Miller-Dieker syndrome: 7 probes in the 17p13.3 Miller-Dieker-ASPA region DiGeorge syndrome: 6 probes in the 22q11.21 DiGeorge region. Prader-Willi syndrome: 5 probes in the 15q11.2 Prader-Willi region. Alagille syndrome: 2 probes for the 20p12.2 JAG1 gene. Saethre-Chotzen syndrome: 1 probe for TWIST + 1 probe for the nearby TWISTNB gene Sotos syndrome: 3 probes for the 5q35.3 NSD1 gene. This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the MR1 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/ 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)
Last change in Probemix content: Lot 0208 (Feb 2008) Current Lot number.: Lot 0208
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 2006-- MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions. 2005-- Effectiveness of multiplex ligation-dependent probe amplification assay used for detecting deletion of Prader-Willi syndrome.
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