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SALSA MLPA KIT P106 MRX
MENTAL RETARDATION (MR) is currently defined as a significant impairment of cognitive and adaptive functioning, with onset before age 18 years, and it is estimated to occur in about 1-3% of the population (Chelly and Mandel 2001, Nat Rev Genet 2(9): 669-680). Among mentally retarded patients, an excess of males over females has long been noted and is usually explained by the presence of many genes responsible for MR on the X chromosome. X-linked mental retardation (XLMR) is usually divided into syndromic and non-syndromic or non-specific forms. In syndromic forms (MRXS), MR is present in association with a specific pattern of physical, neurological, and/or metabolic abnormalities. The term non-specific or non-syndromic X-linked mental retardation (MRX) was introduced to indicate a condition segregating in an X-linked manner in which male patients have no consistent phenotypic manifestations other than MR. Nineteen genes responsible for MRX have been identified so far. The MLPA P106 MRX kit includes probes for 14 of the 19 MRX genes. More information about these genes can be found on page 2. For most genes, probes are present for only some of the exons. No probes for MECP2 are included as a special MLPA probemix (SALSA MLPA kit P015) for RETT syndrome is available. Three probes for DCX are present. Four more probes for DCX can be found in the SALSA MLPA P061 Lissencephaly MLPA kit. More probes for FMR1 and FMR2 will be available in near future in a separate MLPA kit. A separate SLC6A8 probemix will also be available in the near future. This P106 MRX MLPA probemix can be used to detect copy number changes of several genes on the X-chromosome that have been implicated in (non-specific) X-linked mental retardation. The SALSA MLPA kits P064 MR1 and P096 MR2 can be used to detect copy number changes of several autosomal genes / chromosomal regions that are implicated in mental retardation. This MLPA kit is designed to detect deletions / duplications of one or more exons of these genes. 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. The exact ligation sites of the MLPA probes are indicated in the description of this test. Apparent deletions of a single exon will always require confirmation by other methods. We have no information on the percentage of defects in these genes that are 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. For FMR1 and FMR2, expansion of the trinucleotide repeat near the promotor is probably the most common cause of inactivation. This expansion can not be detected by this MLPA kit.
Full mix description (pdf)
Last change in probe mix content: Lot 1005 (October 2005) 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 Chelly J, Mandel J. 2001. Monogenic causes of X-linked mental retardation. Nat Rev Genet 2(9): 669-680.
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