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SALSA MLPA KIT P096 Mental retardation-2
Copy number changes of several chromosomal regions are known to cause mental retardation. Examples are Smith-Magenis syndrome, Williams syndrome, 1p deletion syndrome and Miller-Dieker syndrome. These syndromes are not always easily diagnosed as the common clinical findings associated with a particular syndrome are often not present in each patient or are different between patients from different races. This P096 MLPA Mental Retardation 2 (MR2) MLPA kit provides a simple test to screen DNA samples for deletions and duplications of certain chromosomal regions that are frequently involved in the following syndromes: Wolf-Hirschhorn syndrome: 16 probes in the 4p telomeric region. Cri du Chat syndrome: 6 probes in the 5p telomeric region. Langer-Giedon syndrome: 6 probes in the 8q24 region implicated in Langer-Giedon syndrome. WAGR syndrome: 8 probes in the 11p13-14 region implicated in WAGR syndrome. Rubinstein-Taybi syndrome: 4 probes in the CREBB gene implicated in Rubinstein-Taybi disease. Please note that the major cause of Rubinstein-Taybi are small mutations that will not be detected by MLPA. Downs syndrome: 2 probes for the chromosome 21 Downs syndrome critical region. “Kabuki syndrome”: 4 probes in the 8p region that was described to be involved in Kabuki syndrome. Recent research however could not confirm the involvement of this region. This 8p region might be polymorphic in humans. This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the MR2 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 probe mix content: Lot 0406 (April 2006) Current Lot Number.: Lot 0307
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
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