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SALSA P184 JAG1 MLPA KIT
Lot 1007: As compared to the previous lot 0306, five new JAG1 probes have been added (page 3). In addition, the P184 probe set now contains DNA Denaturation (DD) control probes at 88 and 96 nt. Because of these changes, the product name has been changed into P184B. Lot 0807 has been sent to only two laboratories and contained four new JAG1 probes as compared to the previous lot 0306. Defects in the JAG1 gene on chromosome 20 are the cause of Alagille Syndrome (AGS). Features are characteristic faces, with deep-set eyes and prominent forehead and chin. Cardiac defects are seen in more than 95% of AGS patients. AGS is one of the major forms of chronic liver disease in childhood, with severe morbidity and a mortality of 10 to 20%. The JAG1 gene comprises 26 exons, spanning some 37 kb of genomic DNA on chromosome 20p12.2.This JAG1 probemix contains 26 JAG1 probes, located in 25 different JAG1 exons. No probe is present for exon 11 which is at close distance to exons 10 and 12. Complete JAG1 gene deletions have been detected in approximately 6% of the AGS patients. We have no information on the percentage of defects in this gene that are caused by partial gene deletions. This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the JAG1 gene. 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 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 (word)
Full mix description (pdf)
Last change in probe mix content: Lot 1007 (October 2007) Current Lot Number.: Lot 1007
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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