Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/329958
Type: Artigo
Title: The â (α)5.2 Deletion Detected In A Uruguayan Family: First Case Report In The Americas
Author: Maria Soler
Ana; Schelotto
Magdalena; de Oliveira Mota
Natalia; Dorta Ferreira
Roberta; de Fatima Sonati
Maria; Abayuba da Luz
Julio
Abstract: In Uruguay, -thalassemia (-thal) mutations were introduced predominantly by Mediterranean European immigrant populations and by slave trade of African populations. A patient with anemia with hypochromia and microcytosis, refractory to iron treatment and with normal hemoglobin (Hb) electrophoresis was analyzed for -thal mutations by multiplex gap-polymerase chain reaction (gap-PCR), automated sequencing and multiplex ligation-dependent probe amplification (MLPA) analyses. Agarose gel electrophoresis of the multiplex gap-PCR showed a band of unexpected size (approximately 700bp) in the samples from the proband and mother. Automated sequencing of the amplified fragment showed the presence of the -()(5.2) deletion (NG_000006.1: g.32867_38062del5196) [an -thal-1 deletion of 5196 nucleotides (nts)]. The MLPA analysis of the proband's sample also showed the presence of the -()(5.2) deletion in heterozygous state. We report here the presence of the -()(5.2) deletion, for the first time in the Americas, in a Uruguayan family with Italian ancestry, detected with a previously described multiplex gap-PCR.
Subject: Thalassemia (-thal)
Deletion
Hemoglobinopathies
Uruguayan Population
Multiplex Gap-polymerase Chain Reaction (gap-pcr)
Editor: Taylor & Francis Ltd
Abingdon
Rights: fechado
Identifier DOI: 10.1080/03630269.2016.1200072
Address: http://www.tandfonline.com/doi/abs/10.1080/03630269.2016.1200072?journalCode=ihem20
Date Issue: 2016
Appears in Collections:Unicamp - Artigos e Outros Documentos

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