Diagnostic Test for Pyruvate Kinase Deficiency (PKD)
Author: Bibi Fawziyya Mohabeer
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Abstract
Pyruvate Kinase deficiency (PKD) is the most common enzyme defect that interrupts the glycolytic pathway of the Red blood cell. Pyruvate Kinase is an important enzyme which allows the production of an ATP molecule in the final phase of the glycolytic pathway. The four types of PK enzymes are M1, M2, L and R. The isozymes L and R are encoded by the same gene known as PKLR gene. A mutation in this gene causes PKD, an inherited disease (which is autosomal recessive) that influences the RBC and most commonly cause haemolytic anaemia. The PKLR gene is located on chromosome 1q21. There are various mutations that can occur on the PKLR gene. However, this report focuses on the diagnostic test for the mutation on exon 6 of PKLR gene. The mutation on exon 6 leads to less restriction site (using enzyme Hyp188III), thus alters the number and sizes of PCR product obtained.
Keywords: Pyruvate, Kinase, PKD, PKLR gene, chromosome 1q21, exon 6, primers, restriction site, Hyp188III, PCR product.