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SALSA MLPA KIT P180 Limb-2 / Heart
This MLPA kit is designed to detect copy number changes of one or more exons in some genes that can cause limb malformations, particularly radial ray defects. SALL1 is a 3 exon gene on chromosome 16q12. Mutations in SALL1 cause Townes-Brocks syndrome (TBS), characterized by radial limb malformation, anal abnormalities, abnormal shaped pinnae, and renal anomalies. All cases of TBS described so far are caused by point mutations or small deletions/insertions leading to a truncated protein product. SALL4 is a 4 exon gene on chromosome 20q13. Mutations in SALL4 cause a variety of phenotypes, including Okihiro syndrome, characterized by an inability to abduct the eye and radial dysplasia, acro-renal-ocular syndrome, Holt-Oram Syndrome (see below), and malformations previously attributed to thalidomide embryopathy. Most mutations are point mutations or small deletions/insertions leading to a truncated protein product, however recently six large deletions have been associated with Okihiro syndrome. TBX5 is a 9 exon gene on chromosome 12q24. The final three exons are separated by large introns of between 9 and 20Kb, so two probes have been designed for each exon. The gene has four transcripts listed on the NCBI database. Exon numbering is based on transcript variant 1. Exon 1 encodes only 5' untranslated region (UTR), the start codon is in Exon 2. In variant 2, there are no 5' or 3' UTRs. In variant 3, Exon 2 is spliced out, resulting in the use of an alternative start codon. In variant 4, Exon 1 is replaced by a different exon (1b) encoding only 5'UTR - the start codon utilized is the same as for variant 1. The TBX5 gene product is a transcription factor of the T-box family which is particularly important for heart and upper limb development. Point mutations and deletions in TBX5 have been shown to result in Holt-Oram syndrome (HOS), characterized by radial ray and cardiac (ASD, VSD, Mitral valve prolapse) defects.
Full mix description (word)
Full mix description (pdf)
Last change in probe mix content: Lot 0306 (March 2006) Current Lot Number.: Lot 0107
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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