| Autor: |
Lourdes del Carmen Rizo de la Torre, Francisco Javier Perea Díaz, Bertha Ibarra Cortés, Víctor Manuel Rentería López, Josefina Yoaly Sánchez López, Francisco Javier Sánchez Anzaldo, María Teresa Magaña Torres, Katia Gonnet, Catherine Badens, Nathalie Bonello-Palot |
| Jazyk: |
angličtina |
| Rok vydání: |
2020 |
| Předmět: |
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| Zdroj: |
Genetics and Molecular Biology, Vol 42, Iss 4 (2020) |
| Druh dokumentu: |
article |
| ISSN: |
1678-4685 |
| DOI: |
10.1590/1678-4685-gmb-2019-0032 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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