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SALSA MLPA KIT P324 22q11
[http://www.geneclinics.org/profiles/hht/details.html]
Two SALSA MLPA probemixes are available for analysis of the DiGeorge syndrome region on 22q11. A limited number of probes is present in the P023 probemix. SALSA MLPA P250 DiGeorge probemix contains a larger number of probes in 22q11, and in other regions that may cause a DiGeorge-like phenotype. We recommend the use of the P250 MLPA kit as a primary test for DiGeorge syndrome. This P324 MLPA probemix contains additional probes for the 22q11 region including 12 probes for the TBX1 gene. This P324 probemix is not intended for primary screening of DiGeorge syndrome but might be useful for some research applications. Please note that the high density 22q11 MLPA probe set that was used in Jalali GR et al, 2008, Hum.Mutation 29: 433-440 is P250 and not this P324 probemix. Microdeletions/duplications in the 22q11 region cause a variety of disorders, including DiGeorge syndrome (DGS; MIM 188400), Velocardiofacial syndrome (VCFS; MIM 192430) and Cat Eye syndrome (CES; MIM 115470). The high frequency of 22q11 copy number changes is due to the presence of several copies of a repeat sequence (LCR22). The extend of 22q11 deletions is variable, although 87% extend from the first (LCR22-A) till the fourth (LCR22-D) repeat. The database of genome variants mentions several copy number changes of this genomic region in healthy individuals (see http://projects.tcag.ca/variation/). This P324-A1 DiGeorge probemix contains probes for 34 different sequences in the 22q11 region, among which 12 probes for the TBX1 gene. In addition, 10 probes that detect sequences in other chromosomal regions are present for reference. This SALSA MLPA kit is designed to detect deletions/duplications of one or more sequences in the 22q11 region. 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 small (point) mutations will not be detected by this MLPA test.
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 0508 (May 2008) : lot 0508
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