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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 > T (p.Gln39*) also known as codon 39(C > 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 > 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
Direitos:  info:eu-repo/semantics/openAccess
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