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SALSA MLPA KIT P198 Fumarase Deficiency
[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM&cmd=Limits]
Defects in the FH gene on chromosome 1 are the cause of fumarase deficiency. The protein encoded by this gene is fumarate hydratase, an enzymatic component of the Krebs cycle. It catalyzes the conversion of fumarate to malate. The FH gene comprises 10 exons, spanning about 22 kb of genomic DNA on chromosome 1q43. Defects in this gene can lead to progressive encephalopathy. The majority of individuals with fumarase deficiency have point mutations in the FH gene, most of which will not be detected by the MLPA technique. Some patients however will contain rearrangements in the FH gene that will not be detectable by techniques that rely on PCR amplification of individual exons, such as sequencing or DHPLC. This P198 fumarase deficiency probemix contains probes for each of the 10 exons and is designed to detect deletions/duplications of one or more exons of the FH 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.
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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 0906 (September 2006) : lot 0906
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