Data/hora: 27/07/2024 02:42:08

Provedor de dados: 	74	
País: 	Brazil	
Título: 	Three Mexican Families with β thalassemia intermedia with different molecular basis	
Autores: 	Torre,Lourdes del Carmen Rizo de la; Díaz,Francisco Javier Perea; Cortés,Bertha Ibarra; López,Víctor Manuel Rentería; López,Josefina Yoaly Sánchez; Anzaldo,Francisco Javier Sánchez; Torres,María Teresa Magaña; Gonnet,Katia; Badens,Catherine; Bonello-Palot,Nathalie.	
Data: 	2019-01-01	
Ano: 	2019	
Palavras-chave: 	Thalassemia intermedia; Mexican population; Β globin gene; New mutations; Alpha-globin gene duplication.	
Resumo: 	Abstract Beta thalassemia (β-thal) is a frequent monogenic disease, is clinically and molecularly heterogeneous. This study described molecular and laboratory findings for three Mexican patients with β-thal intermedia phenotype and their relatives. Three Mexican families were studied for presenting β-thal intermedia, ARMS-PCR and Gap-PCR were performed to screen for common mutations, Sanger sequencing for rare or new alleles, and MLPA for identifying deletions and or duplications. In all three families we observed, in heterozygote condition, the mutation c.118C &gt; T (p.Gln39*) also known as codon 39(C &gt; T) in the β globin gene (HBB) associated with a novel molecular defect: a new duplication of the alpha globin gene cluster, a new deletion that includes the loss of exon 3 of HBB and finally a novel mutation in the 3’UTR of HBB (HBB: c.*132C &gt; A). We report three Mexican families with beta thalassemia intermedia due to different molecular basis; a new single nucleotide mutation involving the last nucleotide of the β-globin chain transcript; and two possible new DNA rearrangements, an α cluster duplication, and a partial β gene deletion.	
Tipo: 	Info:eu-repo/semantics/article	
Idioma: 	Inglês	
Identificador: 	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000500104	
Editor: 	Sociedade Brasileira de Genética	
Relação: 	10.1590/1678-4685-gmb-2019-0032	
Formato: 	text/html	
Fonte: 	Genetics and Molecular Biology  v.42 n.4 2019	
Fonte: 	info:eu-repo/semantics/openAccess