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SALSA MLPA KIT P058 IGHMBP2
[http://www.geneclinics.org/profiles/hht/details.html]
Mutations in the IGHMBP2 gene can result in autosomal recessive distal spinal muscular atrophy 1 (DSMA1), also referred to as spinal muscular atrophy with respiratory distress (SMARD1) as well as distal hereditary motor neuronopathy type VI (dHMN6 or HMN6). 'Distal' SMA (DSMA) is distinguished from 'proximal' autosomal recessive spinal muscular atrophy (SMA) by the primary muscles involved. Like the SMN1 gene, which is mutated in SMA, IGHMBP2 co localizes with the RNA processing machinery in both the cytoplasm and the nucleus. IGHMBP2 and SMN share common functions important to motor neuron maintenance and integrity in mammals. IGHMBP2 is the second gene found to be defective in SMA. The database of genome variants mentions no copy number changes of this genomic region in healthy individuals (see http://projects.tcag.ca/variation/). The IGHMBP2 gene comprises 15 exons, spans about 37 kb of genomic DNA and is located at chromosome 11 (68 Mb from p-telomere). The protein encoded by this gene is immunoglobulin mu binding protein 2. This P058-A1 IGHMBP2 probemix contains probes for each of the 15 exons (2 probes for exon 1). This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the IGHMBP2 gene. Heterozygote deletions of probe recognition sequences should give a 35-50% reduced relative peak area of the amplification product of that probe. 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. Related SALSA MLPA kits P021 SMA: Spinal Muscular Atrophy (SMA), to determine SMN1 and SMN2 copy number changes (patients) P060 SMA carrier: Spinal Muscular Atrophy (SMA) carrier, to determine only SMN1 copy number changes.
Full mix description (pdf)
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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Last change in probemix content Current lot number
: lot 0408 (April 2008) : lot 0408
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