کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
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1971588 | 1059870 | 2007 | 5 صفحه PDF | دانلود رایگان |

Objectives:α-Thalassemia, the most common single gene disorder in humans, is due to the absence of one (−α/αα) or both (−−/αα) of the two functional α-globin genes (α1 and α2). The −α3.7 and −α4.2 single gene deletions are common in Southeast Asian populations. Southern blotting analysis and gap PCR assay are commonly used for the detection of such α-thalassemia genotypes. The two genes are located on chromosome 16, with high homology (> 96%).Design and methods:Based on the sequence variation within the two Z boxes, a denaturing high-performance liquid chromatography (DHPLC)-based assay was developed for rapid genotyping of the −α3.7 and −α4.2 alleles. To demonstrate the utility of this approach, 40 DNA samples with known genotypes were analyzed, including −α3.7/αα (7 cases), −α4.2/αα (4 cases), −α3.7/−−SEA (6 cases), −α4.2/−−SEA (3 cases), and 20 unaffected subjects (αα/αα).Results:We successfully distinguished all of the α-thalassemia genotypes through their characteristic chromatograms of α1 and α2 genes. The accuracy of this technique for our sample was 100% sensitivity and specificity.Conclusion:This novel and alternative DHPLC-based α-thalassemia genotype assay is easy, rapid, and highly accurate. This technique enables the diagnosis of silent α+ thalassemia and hemoglobin H disease for large scale population screening.
Journal: Clinical Biochemistry - Volume 40, Issue 11, July 2007, Pages 817–821