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SALSA MLPA KIT P036 Human telomere-3
Lot 0808: As compared to the previous version (P036-D2) the probes for 1p and 4q have been replaced. MENTAL RETARDATION is caused by aberrant copy numbers of subtelomeric regions in 3-8 % of all cases. This P036-E1 human telomere-3 probemix contains one probe for each subtelomeric region and is designed to detect deletions/duplications of each subtelomeric region. No probes are present for the acrocentric arms of 13p, 14p, 15p, 21p and 22p. For these chromosomes, a second probe is present on the q arm close to the centromere. Further information on detection of abnormal copy numbers in subtelomeric regions involved in mental retardation is found on pages 4-7. At the p-telomeric ends of the X and Y chromosomes exists a region of approximately 2500 Kb of DNA, which is identical in both sex chromosomes: the pseudoautosomal region 1, or PAR1. Similarly, the PAR2 region is an 800 Kb DNA region on the q-telomeric ends, which is also identical for chromosome X and Y. The genes in the PAR regions have identical copy numbers in most males and females and thus behave like autosomally inherited genes. The P036-E1 probemix contains one probe for each of the two X/Y PAR regions, as well as two small synthetic MLPA probes for non-telomeric Y-chromosome specific sequences. This SALSA MLPA kit is designed to detect deletions/duplications of one or more genes at the telomere ends. Heterozygote 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 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. If results found by MLPA analysis and other methods results are discordant, please send us the data.
Full mix description (pdf)
Last change in probemix content: Lot 0808 Current lot number.: Lot 0808 Version: E1
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/sites/entrez?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=17338807&query_hl=0&itool=pubmed_docsum]
References 2007 -- Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre. 2006 -- Subtelomeric chromosome rearrangements in children with idiopathic mental retardation: applicability of three molecular-cytogenetic methods. 2006 -- Cytogenetic genotype-phenotype studies: improving genotyping, phenotyping and data storage. 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 -- Investigation of patients with mental retardation and dysmorphic features using comparative genomic hybridization and subtelomeric multiplex ligation dependent probe amplification. 2006-- MLPA vs multiprobe FISH: comparison of two methods for the screening of subtelomeric rearrangements in 50 patients with idiopathic mental retardation 2006 -- Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements. 2006-- Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics. 2006-- A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review. 2006-- High rate of detection of subtelomeric aberration by using combined MLPA and subtelomeric FISH approach in patients with moderate to severe mental retardation. 2005-- High resolution microarray CGH and MLPA analysis for improved genotype/phenotype evaluation of two childhood genetic disorder cases: ring chromosome 19 and partial duplication 2q. 2005-- High-resolution analysis of the subtelomeric regions of human embryonic stem cells. 2004-- Sreening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA). Poster/presentation P036 telomere MLPA kit
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