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SALSA MLPA KIT P187 Holopresencephaly
HOLOPROSENCEPHALY (HPE; 1 out of 16,000 live births; 1 out of 250 conceptuses) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, affecting both the forebrain and the face. Clinical expressivity is variable, ranging from a single cerebral ventricle and cyclopia to clinically unaffected carriers in familial dominant autosomic HPE (Dubourg et al., 2006). In addition to teratogenic agents, several genes are implicated as the cause of HPE. At least 12 different loci have been associated with HPE and now several distinct human genes for holoprosencephaly have been identified. These genes include Sonic Hedgehog (SHH), ZIC2, SIX3, PTCH and TG-interacting factor (TGIF) (Wallis et al., 2006). MLPA probes for each of these genes are present in this P187 probemix. Probes for the SIX2 gene are included since it is in close proximity of the SIX3 gene. Recently, a 1.24 Mb duplication that included the FBXW11 gene has been associated with holoprosencephaly (Koolen, DA et al, J.Hum.Genet.(2006) 51:721-6). We have therefore included three FBXW11 probes from lot 0307 onwards. Also included are now three probes for TMEM1 which has been described as a epilepsy holoprosencephaly candidate. These new probes replace some of the PTCH probes. Probes for almost all PTCH exons are available in SALSA MLPA P067 Gorlin probemix.
Full mix description (word)
Full mix description (pdf)
Last update probemix description : Vs. 06; 24-05-2007 Last change in probemix content : Lot 0307 (March 2007) Current lot number : Lot 0307
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 2007 -- Holoprosencephaly.
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