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SALSA MLPA KIT P081/P082 NF1
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. This P081/P082 MLPA kit can be used to identify copy number changes of the complete, or part of the NF1 gene. To identify copy number changes of the NF2 gene, the SALSA MLPA kit P044 NF2 MLPA can be used. One P081/P082 MLPA kit contains sufficient reagents for 100 MLPA reactions; 50 reactions each of the P081 and the P082 probemix. 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 micro deletion arises from unequal crossover between 2 highly homologous 60-kb duplications. Phenotype of the 17q11.2 micro deletion is usually much more severe than most other NF1 cases and may include severe developmental delay. The P122 NF1 area MLPA probemix can be used to determine the extent of the deletion. This P122 mix contains 7 MLPA probes for other genes in the 1.5 Mb region that is deleted in 5-10 % of the NF1 patients. The NF1 gene has 57 exons + 3 exons in alternative transcripts (9br, 23a and 48a). The gene spans 295 kb of genomic DNA. The two probe mixes included in this MLPA kit contain probes for 51 of the 57 NF1 exons. Three probes are present for NF1 exon 1. In addition one probe is present that detects a sequence located 17 kb downstream the last NF1 exon as well as two probes for the OMG gene which is located in NF1 intron 27. We used the Genbank NM_000267.1 sequence for the design of probes and the numbering of exons. As a control, several probes for other human genes located on different chromosomes are included in probemix P081 and P082. Most, if not all probes should not give a signal on sequences of the NF1 pseudogenes.
Full mix description (pdf)
Last change in probe mix content: P081: lot 1107; P082: lot 1107 Current Lot Number.: P081: lot 1107; P082: lot 1107
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 2007 -- A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17. 2006 -- Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients.
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