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SALSA MLPA KIT P016 VHL
[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM&cmd=Limits]
VON HIPPEL-LINDAU SYNDROME (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplams, most frequently retinal, cerebellar and spinal hemangioblastoma, renal cell carcinoma, phaeochromocytoma, and pancreatic tumors. Apart from clearly familial cases of VHL, mutations in, or deletions of, the VHL gene are found in e.g. 10% of the apparently sporadic cases of hemangioblastomas, 1.6% of the renal carcinomas and 3-9 % of pheochromocytomas. The basis of familial inheritance of VHL is a germline mutation in the VHL tumour suppressor gene, located in chromosome region 3p25. The VHL gene consists of 3 exons and covers approximately 14,500 nt. An mRNA of 4700 nt is transcribed from the VHL gene and encodes a 30 Kd protein. Missense mutations (leading to an amino acid substitution in the VHL protein product) are found in 40 % of the families with an identified VHL germline mutation. Microdeletions (1-18 nt.), insertions (1-8 nt.), splice site and nonsense mutations, predicted to lead to a truncated protein, are found in approximately 30 % of the families. Large deletions account for one-third of the VHL germline mutations, of which approximately 30 % (or some 10 % of all VHL germline mutations) are deletions encompassing the entire gene. DNA isolated from VHL-associated tumours can also be studied by MLPA. However, deletion of one copy of the VHL gene is only one of the causes of the Loss of Heterozygosity (LOH) that is often detected at the VHL locus. LOH caused by non-disjunction or somatic recombination does not result in a change in copy number of the VHL gene and cannot be detected by MLPA. This SALSA MLPA kit is designed to detect deletions / duplications of one or more exons of the VHL gene. 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 0908 (September 2008) Current Lot Number.: Lot 0908
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)
[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=17311301&query_hl=0&itool=pubmed_docsum]
References 2007 -- Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patients. 2006 -- Genetic and epigenetic analysis of von Hippel-Lindau (VHL) gene alterations and relationship with clinical variables in sporadic renal cancer. 2005 -- About the origin and development of hereditary conventional renal cell carcinoma in a four-generation t(3;8)(p14.1;q24.23) family. Poster: ESHG meeting, Munchen, juni 2004
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