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SALSA MLPA KIT P257 TERT-DKC1
[http://www.geneclinics.org/profiles/hht/details.html]
Dyskeratosis congenita (DC) is characterised by multiple features including muco-cutaneous abnormalities, bone marrow failure and an increased predisposition to cancer. It exhibits marked clinical and genetic heterogeneity. DKC1 encoding dyskerin, a component of H/ACA small nucleolar ribonucleoprotein (snoRNP) particles is mutated in X-linked recessive DC. TERC, the RNA component and TERT the enzymatic component of telomerase, are mutated in autosomal dominant DC, suggesting that DC is primarily a disease of defective telomere maintenance. The DKC1 gene on Xq28 comprises 15 exons, spanning about 14,8 kb of genomic DNA. The TERT gene comprises 16 exons, spanning about 41,9 kb of genomic DNA. TERT is located at 5p15 (1,3Mb from p telomer). Deletions of part or the complete TERT gene have been described. Longer deletions in the 5p15 region result in the Cri du Chat syndrome. The TERC gene on 3q26 comprises 1 exon, spanning about 0,5 kb of genomic DNA. This P257 TERT-DKC1 probemix contains one probe for each of the 15 exons of DKC1 (two for exon 15), one probe for each of the 16 exons of TERT (none for exon 1 and two for exon 16) and two probes for the single TERC exon. In addition, it contains two probes surrounding the TERC gene. This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the DKC1, TERT and TERC genes. Deletions of probe recognition sequences will be apparent by a 35-50% reduced relative peak area of the amplification product of that probe. Deletions of DKC1 in males will result in complete absence of the probe amplification product. Please note that mutations/polymorphisms very close to the probe ligation site may also result in a reduced relative peak area. Apparent deletions of a single exon therefore always require confirmation by other methods. We have no information on what percentage of defects in these genes is 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 (pdf)
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
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Last change in probemix content Current lot number
: lot 1107 (November 2007) : lot 1107
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