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SALSA MLPA KIT P224 PPARG
[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM&cmd=Limits]
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Defects in the PPARG gene on chromosome 3p25.1 can result in type II diabetes Mellitis and obesity, familial partial lipodystrophy type 3, or in an increased susceptibility to colon cancer. Translocations resulting in the fusion of the DNA binding domains of the thyroid transcription factor PAX8 and the PPARG gene are frequent in thyroid follicular carcinomas. The PPARG gene comprises 8 exons encoding the PPARG1 protein, spanning about 145 Kb of genomic DNA. At least three forms of PPARG protein are known: PPARG-alpha, gamma and delta. The first two exons are absent in the mRNA for the PPARG2 product while an alternative exon 1 is present in that transcript. Most individuals with a defect PPARG gene have point mutations in the PPARG gene, most of which will not be detected by the MLPA technique. This P224 PPARG probemix contains probes for each of the 8 exons of the PPARG1 transcript. More probes for obesity are available in SALSA MLPA kit P220 Obesity. This MLPA kit is designed to detect deletions/duplications of one or more exons of the PPARG gene. Deletions of probe recognition sequences will be apparent by a 35-50% reduced relative peak area of the amplification product of that probe. However, mutations/polymorphisms very close to the probe ligation site may also result in a reduced relative peak area. Apparent deletions of a single exon therefore always require confirmation by other methods. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Please note that most defects in these genes are expected to be small (point) mutations, most of which will not be detected by this MLPA test.
Full mix description (pdf)
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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Last change in probemix content Current lot number
: lot 1106 (November 2006) : lot 1106
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