Molecular assay of −α3.7 and −α4.2 deletions causing α-thalassemia by denaturing high-performance liquid chromatography

摘要: Abstract Objectives: α-Thalassemia, the most common single gene disorder in humans, is due to absence of one ( −α/αα ) or both −−/αα two functional α-globin genes α1 and α2 ). The −α 3.7 4.2 deletions are Southeast Asian populations. Southern blotting analysis gap PCR assay commonly used for detection such α-thalassemia genotypes. located on chromosome 16, with high homology (> 96%). Design methods: Based sequence variation within Z boxes, a denaturing high-performance liquid chromatography (DHPLC)-based was developed rapid genotyping alleles. To demonstrate utility this approach, 40 DNA samples known genotypes were analyzed, including /αα (7 cases), (4 /−− SEA (6 (3 20 unaffected subjects (αα/αα). Results: We successfully distinguished all through their characteristic chromatograms genes. accuracy technique our sample 100% sensitivity specificity. Conclusion: This novel alternative DHPLC-based genotype easy, rapid, highly accurate. enables diagnosis silent α+ thalassemia hemoglobin H disease large scale population screening.