Three Mexican Families with β thalassemia intermedia with different molecular basis
| Autor: | Torre Ldcr, Badens C, López Vmr, Gonnet K, Díaz Fjp, López Jys, Cortés Bi, Anzaldo Fjs, Bonello-Palot N, Torres Mtm |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0106 biological sciences
0301 basic medicine Biology QH426-470 medicine.disease_cause 01 natural sciences 03 medical and health sciences symbols.namesake Exon hemic and lymphatic diseases Gene duplication Gene cluster medicine Genetics new mutations Multiplex ligation-dependent probe amplification Allele Molecular Biology Sanger sequencing Mutation Thalassemia intermedia Beta thalassemia medicine.disease 030104 developmental biology Human and Medical Genetics symbols β globin gene Mexican population alpha-globin gene duplication 010606 plant biology & botany |
| Zdroj: | Genetics and Molecular Biology, Vol 42, Iss 4 (2020) Genetics and Molecular Biology v.42 n.4 2019 Genetics and Molecular Biology Sociedade Brasileira de Genética (SBG) instacron:SBG |
| ISSN: | 1678-4685 |
| Popis: | 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: | OpenAIRE |
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