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SALSA MLPA KIT P069 Human telomere
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MENTAL RETARDATION is caused by aberrant copy numbers of subtelomeric regions in up to 8 % of al cases. The SALSA P070 contains one probe for each subtelomeric region from chromosome 1-22 + the two X/Y pseudoautosomal regions. The P069 probemix does not contain probes for the acrocentric chromosome arms 13p, 14p, 15p, 21p and 22p. The 1q, 17p, 20p and Xp probes in P070 detect a different sequence than the corresponding probes in P069. All other P070 probes recognize the same sequence as the corresponding probes in P069. Most probes are designed for a well-characterised gene near the telomere. Chromosomes 13, 14, 15, 21 and 22 have each more than 10 Mb of repeat sequences at one end, 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 this region. The "p" probes for the acrocentric chromosomes are therefore actually located in the q-arm, close to the centromere. 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, and is 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. For independent confirmation of results, the P036C probemix can be used. Except for the X/Yq probe SYBL, all sequences detected by probes in the P069/P070 probemixes are different from the probes in the P036C mix. The P036C MLPA kit is similar to this P070 kit in having one probe for each subtelomeric region in a single probemix. This MLPA kit is designed to detect deletions/duplications of each subtelomeric region. 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. We recommend to test samples with both P036C and P070 (or P069).
Full mix description (word)
Full mix description (pdf)
Last change in probe mix content: Lot 0205 (February 2005) Current Lot Number.: Lot 0407
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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References 2006 -- Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion. 2006 -- High-throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidy. 2006-- Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics. 2005-- Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assay.
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