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SALSA MLPA P189 CDKL5
Classical Rett syndrome is caused by defects of the human MECP2 gene. Although Atypical Rett syndrome has a very similar phenotype, different genes are involved. Defects in the CDKL5 gene have been described by Weaving et al. (2004) and Tao et al. (2004) to be one of the causes of atypical Rett syndrome. Besides, CDKL5 mutations are a significant cause of Infantile Spasms (IS) and early epileptic seizures in female patients (Archer, H.L. et al (2006) J.Med.Genet.). Another gene, NTNG1, has also been reported to be a candidate gene for Rett (like) syndrome. In one patient with characteristic features of Rett syndrome, no mutations were found in either MECP2 or the CDKL5 genes, but a translocation was detected in intron 6 of the NTNG1 gene (Borg et al. (2005). The frequency of NTNG1 mutations in these patients appears to be low, however (Archer et. Al (2006) Am.J.Med.Genet. 140; 691-694). Finally, mutations in the ARX gene are a cause of Infantile Spasms (IS) and X-linked mental retardation. This P189 CDKL probemix contains probes for these three genes. The CDKL5 gene comprises 21 exons, spanning about 228 kb of genomic DNA. This gene is located on chromosome Xp22. The NTNG1 gene contains 6 exons, spanning 342 kb and it is located on chromosome 1p13.3. The ARX gene consists of 5 exons and has a length of approximately 11.6 kb. It is located on chromosome Xp22.1-p21.3, 4.5 Mb downstream of CDKL5. This P189 CDKL5 probemix contains probes for each of the exons of the CDKL5, ARX and the NTNG1 genes. In addition, 6 control probes are included in this mix, of which 3 detect sequences on the X chromosome and 3 probes detect sequences on autosomes.
Full mix description (pdf)
Last change in probemix content : Lot 0608 (June 2008) Current lot number : Lot 0608
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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