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SALSA MLPA KIT P233 MID1
[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM&cmd=Limits]
The X-linked form of OPITZ syndrome is characterized by midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias, and agenesis of the corpus callosum. Defects in the MID1 gene on chromosome Xp22 are the main cause of X-linked OPITZ syndrome. The protein encoded by this gene is likely to be involved in the formation of multiprotein structures acting as anchor points to microtubules. The MID1 gene comprises 10 exons, spanning about 172 kb of genomic DNA. Most individuals with X-linked OPITZ syndrome have point mutations in the MID1 gene, most of which will not be detected by the MLPA technique. This P233 MID1 probemix contains probes for each of the 10 exons. Two probes are present for exon 2. In addition, it contains several probes in the Xp22 region, as well as control probes elsewhere on the X chromosome and some autosomal control probes. This MLPA kit is designed to detect deletions/duplications of one or more exons of the MID1 gene. Deletions of 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 that probe is expected. However, mutations/polymorphisms very close to the probe ligation site may also result in a reduced relative peak area. Apparent deletions of a single exon therefore 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.
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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 update probemix description Last change in probemix content Current lot number
: vs. 01; 02-01-2007 : lot 0107 (January 2007) : lot 0107
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