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SALSA MLPA KIT P114 LQT
Lot 0508. As compared to the previous lots 0805 and 0506, DNA denaturation control fragments (D-fragments) at 88, 96, 100 and 105 nt have been added. Congenital long QT syndrome (LQT) is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncopes, seizure, or sudden death. Defects in several genes can be the cause of familial LQT syndrome. The LQT1 form is caused by defects in the KCNQ1 gene. The KCNQ1 (=KVLQT1) gene has a total of 17 exons, spans 404 Kb of chromosomal sequence and is located on chromosome 11p15.5 within the imprinted chromosomal region that is associated with Beckwith-Wiedemann syndrome. Two alternative transcripts contain 16 exons each. The most predominant isoform NM_000218 consists of all exons but the second exon while variant NM_181798 instead lacks exon 1. This gene is strongly expressed in the heart and encodes a protein with structural features of a voltage-gated potassium channel. Mutations in KCNQ1 are not only associated with long QT syndrome but also with Romano-Ward syndrome, Jervell and Lange-Nielsen syndrome and familial atrial fibrillation. The LQT2 form is caused by defects in the KCNH2 (HERG) gene. This gene has 15 (?) exons, spans 32 Kb of chromosomal sequence and is located on chromosome 7q35. The LQT3 form is caused by defects in the SCN5A gene, located on chromosome 3p22. We combined probes for KCNH2 and KCNQ1 in one SALSA MLPA probemix, as the phenotypes of the diseases are very similar. The probemix included in this kit contains probes for 15 of the 17 exons of the KCNQ1 gene and for 9 of the 14 exons of KCNH2 gene. Two probes are present for the longer KCNQ1 exons 2 and 17. Four probes for the SCN5A gene are included, as well as four probes for KCNE1 and three probes for KCNE2. This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the LQT genes. Heterozygote deletions of probe recognition sequences should give 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. 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)
Last change in probe mix content: Lot 0508 (May 2008) Current Lot Number.: Lot 0508
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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