| Texto completo | |
| Autor(es): |
Maria Soler, Ana
;
Schelotto, Magdalena
;
de Oliveira Mota, Natalia
;
Dorta Ferreira, Roberta
;
de Fatima Sonati, Maria
;
Abayuba da Luz, Julio
Número total de Autores: 6
|
| Tipo de documento: | Artigo Científico |
| Fonte: | HEMOGLOBIN; v. 40, n. 4, p. 289-292, AUG 2016. |
| Citações Web of Science: | 0 |
| Resumo | |
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. (AU) | |
| Processo FAPESP: | 14/00984-3 - "Doenças dos glóbulos vermelhos: Fisiopatologia e novas abordagens terapêuticas" |
| Beneficiário: | Fernando Ferreira Costa |
| Modalidade de apoio: | Auxílio à Pesquisa - Temático |