Identifiying PKLR deep intronic variants in congenital hemolytic anemia patients using PKLR whole gene sequencing
Project no. 29637 · Status: Kapanmış (Yayın bekleniyor) · 2023
Summary
<p>Pyruvate kinase deficiency (PKD) is the most common glycolytic enzyme deficiency that leads to congenital non-spherocytic hemolytic anemia. Due to the variability in clinical symptoms and the limitations of hematological examinations, diagnosing these patients is not always feasible without molecular tests, providing a significant advantage in the diagnostic process. To date, more than 300 variants have been identified in the PKLR gene, the majority of which are located in the coding sequence (exons, exon-intron binding regions). Occasionally, deletion variants or promoter and deep intronic variants may also be responsible for the disease. Diagnosing patients carrying these mutations is challenging using classical sequencing methods since the detection of rare variants is not possible. In this study, the aim was to develop a comprehensive PKLR whole gene sequencing method covering the promoter region, all coding exons, and all introns of the PKLR gene. PKLR whole gene sequencing successfully analyzed PKLR gene variants in five hemolytic anemia patients. This developed rapid and comprehensive analysis method can be considered a valuable tool in clinical practice for the diagnosis of PK deficiency.</p>