Denaturing HPLC-Based Assay for Molecular Screening of Nondeletional Mutations Causing [alpha]-Thalassemias

From: Clinical Chemistry | Date: July 1, 2004| Author: | Copyright information

[alpha]-Thalassemias (OMIM 141850 and 141800; GenBank accession no. NT037887) are recessively inherited hemoglobin disorders caused by loss of function of either one of the two duplicated [alpha]-globin genes ([alpha]1 and [alpha]2), both located on chromosome 16p13.3 (1, 2). More than 95% of [alpha]-thalassemia phenotypes result from meiotic unequal recombinational events between the highly homologous [alpha]1- and [alpha]2-globin loci, which lead mainly to large genomic deletions (3-100 kb), which remove one to four [alpha]-globin genes, and rarely to [alpha]-gene triplication or ...

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