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SALSA MLPA kit P015 MECP2
[http://www.geneclinics.org/profiles/hht/details.html]
Version D2 - lot 0708. This lot has many changes as compared to previous lot. Several new MECP2 probes and probes centromeric and telomeric of MECP2 are included. In addition, some probes for the CDKL5, ARX and NTNG1 genes, involved in RETT-like syndrome, are included. MECP2 is located at Xq28, close to the small pseudoautosomal region 2 (PAR2), at the q-telomere of chromosome X. Disruption of MECP2 in males is usually lethal. Disruption in females can cause RETT syndrome, one of the most common causes of mental retardation in females, with an incidence of 1 in 10.000-15.000. RETT syndrome is probably caused by inactivation of the single normal MECP2 copy by DNA-methylation. Female RETT syndrome patients are mosaic for MECP2-expression because X-chromosome inactivation is random. Duplication of the complete MECP2 gene was identified as the cause of severe mental retardation with progressive spasticity in some males (Van Esch H. et al 2005 Am. J. Hum. Genet. 77, 442-453). MECP2 mutations have also been found in patients with a clinical diagnosis of Angelman syndrome. The most common cause of Angelman syndrome can be detected with SALSA MLPA kit ME028 Prader Wili / Angelman. The MECP2 gene contains 4 exons. Start codon is close to the end of exon 2 and stop codon is in exon 4. The 3'UTR is unusually long: ~8.5 Kb. This P015-D2 MECP2 probemix contains probes for each of the four exons. In addition, it contains several probes for genes in close proximity with MECP2. Some of these probes are located within the pseudoautosomal region 2 (PAR2). Although close to the small pseudoautosomal region PAR2, MECP2 is not pseudoautosomal and is not present on the Y-chromosome. This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the MECP2, CDKL5 and ARX genes that are located on the X-chromosome, and the autosomal NTNG1 gene. Deletions of X chromosome probe recognition sequences in males will be apparent by the absence of the probe amplification product. In female heterozygotes, a 35-50% reduced relative peak area of the amplification product of a probe is expected. 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. 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 0708 (July 2008) Current Lot Number.: Lot 0708
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)
[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=17387578&query_hl=0&itool=pubmed_DocSum]
[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=17407838&query_hl=0&itool=pubmed_DocSum]
References 2007 -- Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients. 2007 -- Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms. 2006 -- Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28. 2006 -- Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene. 2006 -- Large genomic rearrangements in MECP2. 2005 -- Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. 2003 -- MLPA; Detects Large Deletions in the MECP2 Gene of Swedish Rett Syndrome Patients ; P015c Poster presentation
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