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• W2040408268 abstract "α-thalassemia belongs to those inherited diseases in which large genomic deletions/duplications represent a significant proportion of causative mutations. Until recently, large α-globin gene cluster rearrangements have been mainly detected by gap-PCR and Southern blotting, methods that have significant drawbacks. We tested the recently developed multiplex ligation-dependent probe amplification (MLPA) assay for deletional screening of the α-globin gene cluster in a cohort of 25 individuals suspected of having α-globin alteration(s), in which no or doubtful mutations had been found using conventional methods. In 13 out of 18 α-thalassemia carriers and in all 5 patients with HbH we found the causative α-globin defects. In 2 thalassemia intermedia patients, carriers of heterozygous β-globin mutations, the co-inheritance of homozygous α-genes triplication was detected. MLPA results were subsequently confirmed by real-time PCR. This study shows that MLPA can effectively identify different and unknown types of α-globin gene rearrangements, to allow characterizing previously unsolved α-thalassemia genotypes." @default.
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• W2040408268 date "2011-02-15" @default.
• W2040408268 modified "2023-10-18" @default.
• W2040408268 title "Application of MLPA assay to characterize unsolved α-globin gene rearrangements" @default.
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• W2040408268 doi "https://doi.org/10.1016/j.bcmd.2010.11.006" @default.
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