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SALSA MLPA KIT P226 SDHD
[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM&cmd=Limits]
Paragangliomas (PGL), also referred to as 'glomus body tumors,' are tumors derived from paraganglia located throughout the body. Nonchromaffin types primarily serve as chemoreceptors and are located in the head and neck region (i.e., carotid body, jugular, vagal, and tympanic regions), whereas chromaffin types have endocrine activity, conventionally referred to as 'pheochromocytomas,' and are usually located below the head and neck (i.e., adrenal medulla and pre- and paravertebral thoracoabdominal regions). PGL can manifest as nonchromaffin head and neck tumors only, adrenal and/or extraadrenal pheochromocytomas only, or a combination of the 2 types of tumors Familial paraganglioma can be caused by mutations in SDHD (PGL1), SDHB (PGL4), SDHC (PGL3) and SDHA. These genes encode for the four subunits of the succinate dehydrogenase complex that resides in the inner mitochondrial membrane. The SDHD gene is located on chromosome 11q23.1 and comprises 4 exons, spanning 9 kb of genomic DNA. The SDHB gene I spans 36 kb, comprises 8 exons and is located on chromosome 1p36.1. The SDHC gene is located on chromosome 1q23.3 and comprises 6 exons, spanning 50 kb of genomic DNA. This P226 SDHD probemix contains MLPA probes for most exons of the SDHB, SDHC and SDHD genes. Mutations in the SDHA gene (SDH2) can cause Leigh syndrome due to complex II deficiency. No probes for SDHA are present in this P226 probemix.
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 1107 (November 2007) : lot 1107
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