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SALSA MLPA KIT P047 RB1
[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM&cmd=Limits]
Retinoblastoma (RB ; MIM180200) is an embryonic neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Retinoblastoma is associated with loss or inactivation of the RB1 gene, located on 13q14.Macklin (1960) stated that in the U.S. the frequency of retinoblastoma is about 1 in 23,000 live births. Several deletions in the RB1 have been characterised. Among these is a 4 kb deletion of exons 24 and 25 that was associated with low penetrance as only 39% of eyes at risc in this family developed retinoblastoma (Bremner et al. (1977). The 27 exons of the gene are known to span over 180 kb of genomic DNA (Hong et al. 1989). The locus maps to G-bands 13q14.12 or 13q14.2. The length of individual exons ranges from 31 to 1,889 bp. Homozygous deletions of the RB1 locus have been demonstrated in sporadic cases of leiomyosarcoma, malignant fibrous histiocytoma and undifferentiated sarcoma in the absence of any history of retinoblastoma. Loss of heterozygosity of the RB1 locus is frequent in high grade astrocytomas but not in low grade gliomas. Deletion of exons 13-17 is frequently observed in various types of tumors, including retinoblastoma, breast cancer, and osteosarcoma, and the presence of a potential 'hotspot' for recombination in the region was predicted. The probe mix included in this kit contains probes for 23 of the 27 exons of the RB1 gene. No probe is made for exons 5, 10, 15 and 16 in view of the close proximity to other exons. Two probes are present for exon 1. In some cases the sequence detected is located (partly) in an intron sequence at short distance of the exon due to the low G/C content of some exons. In addition to these 24 probes, 2 probes are present for genes at close distance of RB1 (48 kb upstream ; 72 kb downstream) as well as a probe for the DLEU1 gene located at a distance of 1,6 Mb from RB1. In addition to these 13q14.2 probes, 14 probes for other human genes located on different chromosomes are included as a control. This MLPA kit is designed to detect deletions / duplications of one or more exons of the genes. 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 (word)
Full mix description (pdf)
Last change in probe mix content: Lot 1204 (December-2004) Current Lot Number.: Lot 0107
References Sellner LN et al. (2006). Screening for RB1 mutations in tumor tissue using denaturing high performance liquid chromatography, multiplex ligation-dependent probe amplification, and loss of heterozygosity analysis. Pediatr Dev Pathol. 2006 Jan-Feb;9(1):31-7.
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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)
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