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|Title:||The â (Î±)5.2 Deletion Detected In A Uruguayan Family: First Case Report In The Americas|
Magdalena; de Oliveira Mota
Natalia; Dorta Ferreira
Roberta; de Fatima Sonati
Maria; Abayuba da Luz
|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.|
Multiplex Gap-polymerase Chain Reaction (gap-pcr)
|Editor:||Taylor & Francis Ltd|
|Appears in Collections:||Unicamp - Artigos e Outros Documentos|
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