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SALSA MLPA KIT P031 / P032 FANCA
FANCONI ANEMIA (FA) is an autosomal recessive disorder affecting all bone marrow elements and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Mutations in at least 7 different genes can result in FA. Defects of the FANCA gene on chromosome 16q24.3 are the most frequent cause. The genes involved in FA are all involved in DNA repair. Cultured FA fibroblasts have an impaired capacity of removing DNA interstrand crosslinks induced by mitomycin C. Spontaneous chromosome breakage is a feature of FA. The FANCA gene spans 78 Kb of genomic sequence and consists of 43 exons. This MLPA test contains one probe for each FANCA exon. The FANCA is located on chromosome 16q24.3, less than 500 Kb from the 16q telomer. Known defects of the FANCA gene include pointmutations, small deletions/insertions and deletions of one or more complete exons. Duplications of one or more exons have not yet been reported. A deletion of exons 12-31 is a founder mutation in the Afrikaner population of South Africa and could be traced back to a French Huguenot couple who arrived in South Africa in 1688. Several other exon deletions have been confirmed or were detected with the use of this MLPA kit in the Laboratory of DNA Diagnostics of the Free University in Amsterdam. The FANCA gene has 43 exons and covers approximately 78 Kb. We divided the probes for the FANCA exons between two different probe mixes. Probemix P031 contains 22 probes for different FANCA exons, as well as 9 control probes detecting other sequences. Probemix P032 contains 21 probes for different FANCA exons, as well as 10 control probes detecting other sequences.
Full mix description (word)
Full mix description (pdf)
Last change in probe mix content: P031: lot 0105; P032 lot 0307 Current Lot Number.: P031: lot 1206; P032 lot 0307
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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