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SALSA MLPA KIT P203 PKLR
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Pyruvate kinase (PK) deficiency is a common cause of hereditary non-spherocytic haemolytic anaemia. PK is an autosomal recessive disorder commonly caused by mutations in the gene encoding erythrocyte and liver-type pyruvate kinase (PKLR), a key enzyme of the glycolytic pathway. The clinical symptoms of the disease can be variable, ranging from chronic nonspherocytic hemolytic anemia to neonatal jaundice requiring erythrocyte transfusions. Transcript variant 1 of the PKLR gene on chromosome 1q22 comprises 11 exons, spanning about 11.6 kb of genomic DNA. Missense mutations in the PKLR gene are the most common cause of the disease, but small PKLR deletions and insertions have also been described. Most mutations constitute single-base substitutions, which will not be detected by the MLPA technique. It is not yet known what role larger PKLR deletions play in the occurrence of the disease. This P203 PKLR probemix contains probes for 10 of the 11 PKLR exons. In addition, it in contains two probes for the LMNA gene which is located at close distance (~ 830 Kb) to the PKLR gene on chromosome 1q21. This MLPA kit is designed to detect deletions/duplications of one or more exons of the PKLR genes and, possibly, the LMNA genes. More LMNA probes are present in the P048 LMNA probemix.
Full mix description (word)
Full mix description (pdf)
Last change in probe mix content: Lot 0606 (June 2006) Current Lot Number.: Lot 0606
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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