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SALSA MLPA KIT P019 & P020 HUMAN TELOMER
Together the P019 and P020 probemixes contain 72 probes. One probe for each of the 48 subtelomeric regions, as well as one probe directed to a sequence in the middle of each chromosome. Probe mix P019 contains three probes for each of the human chromosomes 1-11 and X, whereas P020 contains three probes for each of chromosomes 12-22 and Y. Another SALSA MLPA probemix (P036) contains one probe for each of 46 subtelomeric regions in a single probemix. All probes in P036 are different from the ones that are present in these P019 and P020 probe mixes. Please inform us on results obtained with cytogenetically well characterised DNA samples. In view of new data, some probes might be replaced in the future. We used the NCBI mapview database and the NCBI blast services to localise each probe recognition sequence on the chromosome maps. However, as the exact order of the various BAC clones that have been sequenced for each chromosome is not completely certain, new releases of the mapview database may result in an altered location for some of the probes. Please note that the exact chromosomal location of some probes, in particular the distance towards the telomer, is based on NCBI data and might be incorrect in some cases. Human chromosomes 13, 14, 15, 21 and 22 each have more than 10 Mb of repeat sequences at their ends, covering most or all of the p arms. For these chromosomes we have used a probe recognition sequence in one of the first genes following the region. Approximately 2500 Kb of DNA sequence at the p telomeric ends of the X and Y chromosomes are identical. This sequence is called the pseudoautosomal region 1, or PAR1. Similarly, a region of approximately 800 Kb DNA at the q telomeric ends of these chromosomes is identical, called PAR2. Although encoded by the sex chromosomes X and Y, the genes in the PAR regions have identical copy numbers in most males and females, and behave like autosomal inherited genes. P019 and P020 both contain a probe for the SYBL1 gene located at the q telomeric PAR2 region of the X and Y chromosome. These two probes recognise different sequences of this gene. This MLPA kit is designed to detect deletions / duplications of one or more exons of the genes. Deletions of probe recognition sequences will be apparent by a 35-50% reduced relative peak area of the amplification product of that probe. However, mutations / polymorphisms very close to the probe ligation site may also result in a reduced relative peak area. Apparent deletions of a single exon will therefore always require confirmation by other methods. We have no information on the percentage of defects in the genes that are caused by deletions / duplications of complete exons. 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 P019 0305 ; Lot P020 0204 (Feb-2004) Current Lot Number.: Lot P019 0305; Lot P020 0204
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 Rooms L. et al. (2004). Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA).
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