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SALSA MLPA KIT P122 NF1 AREA
NEUROFIBROMATOSIS is an autosomal dominant disorder characterised particularly by café-au-lait spots and fibromatous tumors of the skin. Neurofibromatosis type I (MIM162200) is caused by defects in the NF1 gene on chromosome 17q11.2. Type II (MIM101000) is caused by defects in the NF2 gene on chromosome 22. Deletions of part of the NF1 gene as well as deletions and duplications of the complete NF1 gene have been described. Relatively common (5-10% of NF1 cases?) is a deletion of a 1500 kb chromosomal region that includes the NF1 gene. This interstitial 17q11.2 microdeletion arises from unequal crossover between 2 highly homologous 60-kb duplicons. Phenotype of the 17q11.2 microdeletion is usually much more severe than most other NF1 cases and may include severe developmental delay. This P122-C1 NF1 area MLPA kit contains 23 probes for 15 genes located at close distance to NF1 as well as 5 probes for NF1 exons. As a control, 11 probes for other human genes located on different chromosomes are included of which two probes are located telomeric from the NF1 area on 17p. This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the aforementioned genes. Heterozygote deletions of probe recognition sequences should give a 35-50% reduced relative peak area of the amplification product of that probe. However, mutations and/or polymorphisms very close to the probe ligation site may also result in a reduced relative peak area. Therefore, apparent deletions detected by a single probe always require confirmation by other methods. 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)
Last change in probe mix 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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