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SALSA MLPA KIT P179 Limb-1
This MLPA kit is designed to detect copy number changes of one or more exons in some genes that can cause limb malformations. GLI3 is a 14 exon gene on chromosome 7p13. The first three exons are separated by large introns of between 28 and 74Kb, so two probes have been designed for each exon. The GLI3 gene product is a transcription factor which undergoes differential post-translational modification depending on the concentration of SHH in the developing limb, and is therefore involved in antero-posterior patterning of the limbs. Mutations in GLI3 cause a wide variety of phenotypes including Greig Cephalopolysyndactyly (GCPS), Pallister-Hall syndrome, Pre-axial and Post-axial polydactyly, and Acrocallosal syndrome. Some cases of GCPS are caused by large deletions including the GLI3 gene. HOXD13 is a 2 exon gene on chromosome 2q31. The two exons are separated by a 808bp intron. HOXD13 is a transcription factor involved in distal limb patterning. Four types of HOXD13 mutations are associated with distinct phenotypes. Expansions in the amino-terminal polyalanine tract cause synpolydactyly (SPD), specific missense mutations cause brachydactyly type E, intragenic deletions or other missense mutations cause SPD with an additional foot phenotype, whilst a splice site mutation has been reported to cause the foot malformation alone. ROR2 is a 9 exon gene on chromosome 9q22. Exon1 is separated from the rest of the gene by a 174Kb intron, so two probes have been designed for this exon. The ROR2 gene product is a transmembrane receptor tyrosine kinase, which is particularly important for the chondrocyte lineage. Point mutations in ROR2 have been shown to result in brachydactyly type B, and in autosomal recessive Robinow syndrome. The latter has also been associated with a deletion.
Full mix description (word)
Full mix description (pdf)
Last change in probe mix content: Lot 0306 (March 2006) Current Lot Number.: Lot 0607
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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