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SALSA MLPA KIT P188 22q13
[http://www.geneclinics.org/profiles/hht/details.html]
Telomeric 22q13.3 monosomy syndrome is characterized by severe expressive language delay and mild mental retardation. Most patients display hypotonia and normal to accelerated growth. Telomeric 22q13 deletions appear to be extremely variable in size, extending from 160 Kb to 9 Mb. The minimum critical region responsible for the monosomy 22q13 phenotype includes the genes SHANK3 (also known as PSAP2 or PROSAP2), ACR and RABL2B, but not ARSA (OMIM 606232). This 22q13 probe mix contains 37 MLPA probes detecting sequences on chromosome 22q13, as well as 7 control probes detecting sequences on other chromosomes. The majority of the 22q13 probes (22) are located in the q terminal 1 Mb region. These include four probes in the SHANK3 gene (which are thought to be responsible for at least part of the phenotype, in particular the neurological symptoms) as well as two probes each for ACR and RABL2B. Please note SALSA MLPA kit P204 probemix includes many additional probes in the 22q11 region. Furthermore, probes for the 22q11 region are also present in the current P023B DiGeorge probemix. This MLPA kit is designed to detect deletions/duplications in the human 22q13 subtelomeric area. Deletions of probe recognition sequences will be apparent by a 35-50% reduced relative peak area of the amplification product of that probe. Note that mutations/polymorphisms very close to the probe ligation site may also result in a reduced relative peak area. Apparent deletions detected by single probes therefore always require confirmation by other methods. Please note that since MRC-Holland has very little access to patient material, this probemix has not been used yet on DNA samples of monosomy 22q13 patients!
Full mix description (word)
Full mix description (pdf)
Last update probemix description: Vs. 04; 06-04-2007 Last change in probemix content: lot 0906 (September 2006) Current lot Number.: lot 0407
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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