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dc.contributor.authorMoradkhani, Kamranen_US
dc.contributor.authorPréhu, Claudeen_US
dc.contributor.authorOld, Johnen_US
dc.contributor.authorHenderson, Shirleyen_US
dc.contributor.authorBalamitsa, Veraen_US
dc.contributor.authorLuo, Hong-Yuanen_US
dc.contributor.authorPoon, Man-Chiuen_US
dc.contributor.authorChui, David H. K.en_US
dc.contributor.authorWajcman, Henrien_US
dc.contributor.authorPatrinos, George P.en_US
dc.date.accessioned2012-01-09T20:51:27Z
dc.date.available2012-01-09T20:51:27Z
dc.date.issued2008-10-16en_US
dc.identifier.citationMoradkhani, Kamran, Claude Préhu, John Old, Shirley Henderson, Vera Balamitsa, Hong-Yuan Luo, Man-Chiu Poon, David H. K. Chui, Henri Wajcman, George P. Patrinos. "Mutations in the paralogous human α-globin genes yielding identical hemoglobin variants" Annals of Hematology 88(6): 535-543. (2008)en_US
dc.identifier.issn1432-0584en_US
dc.identifier.urihttp://hdl.handle.net/2144/2865
dc.description.abstractThe human α-globin genes are paralogues, sharing a high degree of DNA sequence similarity and producing an identical α-globin chain. Over half of the α-globin structural variants reported to date are only characterized at the amino acid level. It is likely that a fraction of these variants, with phenotypes differing from one observation to another, may be due to the same mutation but on a different α-globin gene. There have been very few previous examples of hemoglobin variants that can be found at both HBA1 and HBA2 genes. Here, we report the results of a systematic multicenter study in a large multiethnic population to identify such variants and to analyze their differences from a functional and evolutionary perspective. We identified 14 different Hb variants resulting from identical mutations on either one of the two human α-globin paralogue genes. We also showed that the average percentage of hemoglobin variants due to a HBA2 gene mutation (α2) is higher than the percentage of hemoglobin variants due to the same HBA1 gene mutation (α1) and that the α2/α1 ratio varied between variants. These α-globin chain variants have most likely occurred via recurrent mutations, gene conversion events, or both. Based on these data, we propose a nomenclature for hemoglobin variants that fall into this category. ELECTRONIC SUPPLEMENTARY MATERIAL. The online version of this article (doi:10.1007/s00277-008-0624-3) contains supplementary material, which is available to authorized users.en_US
dc.description.sponsorshipFP6 eInfrastructure for Thassaemia Research Network (RI-2004-026539); ITHANETen_US
dc.language.isoenen_US
dc.publisherSpringer-Verlagen_US
dc.rightsCopyright The Author(s) 2008en_US
dc.subjectα-Globin genesen_US
dc.subjectParaloguesen_US
dc.subjectGene conversionen_US
dc.subjectHemoglobin variantsen_US
dc.subjectMutationsen_US
dc.titleMutations in the Paralogous Human α-globin Genes Yielding Identical Hemoglobin Variantsen_US
dc.typearticleen_US
dc.identifier.doi10.1007/s00277-008-0624-3en_US
dc.identifier.pubmedid18923834en_US
dc.identifier.pmcid2690850en_US


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