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SALSA MS-MLPA KIT ME030 BWS/RSS
[http://www.geneclinics.org/profiles/hht/details.html]
Beckwith-Wiedemann Syndrome (BWS) is a clinically heterogeneous overgrowth syndrome associated with an increased risk for embryonal tumor development. Russell-Silver Syndrome (RSS) is a genetically heterogeneous disorder involving both intra-uterine and post-natal growth-retardation. The incidence of both BWS and RSS is estimated to be approximately 1 in 10000-15000 and around 85% of the cases are sporadic. These conditions are both caused by a genetic or an epigenetic alteration within two domains of imprinted growth regulatory genes on chromosome 11p15, leading to deregulated expression of the imprinted genes within this region. Approximately 60-70% of the patients have imprinting abnormalities at one of two imprinted domains H19DMR or KvDMR, and these changes are frequently mosaic. Other causes of BWS and RSS are uniparental disomy (UPD), trisomy 11p15 (1%), mutations in the CDKN1C gene (10%), as well as small deletions and translocations. The SALSA MS-MLPA ME030 probemix is capable of rapidly detecting most causes of BWS and RSS, as both copy numbers and methylation status of the 11p15 region can be determined. The assay was validated on DNA samples from BWS and RSS patients and identified methylation defects, as well as chromosome 11p15 duplications and deletions. This MS-MLPA assay for BWS/RSS can also be useful for screening of childhood cancers, in particular Wilms tumor. A strong linkage between methylation of the H19DMR locus, but not KvDMR, has been described in these patients resulting in biallelic expression of the IGF2 gene. The ME030-B1 BWS/RSS probemix contains 26 probes specific for the BWS/RSS 11p15 region. Eleven of these probes contain a HhaI recognition site and provide information about the methylation status of the target sequence. In addition, 19 MLPA probes located outside the BWS-RSR locus are added for reference. These include three MS-MLPA control probes for complete HhaI digestion in the MS-MLPA reaction. Please note that each MS-MLPA reaction generates two samples that need analysis by capillary electrophoresis: one undigested sample for copy number detection and one digested sample for methylation detection. More information about MS-MLPA can be found on page 5 and in the MS-MLPA protocol.
Full mix description (pdf)
Last change in probe mix content: Lot 0608 (June 2008) Current Lot Number.: Lot 0608
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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