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| 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. |
| 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... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Thalassemia intermedia; Mexican population; Β globin gene; New mutations; Alpha-globin gene duplication. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000500104 |
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| Gamboa,Ricardo; Huesca-Gómez,Claudia; López-Pérez,Vanessa; Posadas-Sánchez,Rosalinda; Cardoso-Saldaña,Guillermo; Medina-Urrutia,Aida; Juárez-Rojas,Juan Gabriel; Soto,María Elena; Posadas-Romero,Carlos; Vargas-Alarcón,Gilberto. |
| Abstract We examined the role of UCP gene polymorphisms as susceptibility markers for premature coronary artery disease (pCAD). The UCP2 Ala55Val (C/T rs660339), UCP2 -866G/A (rs659366), and UCP3 -55C/T (rs1800849) polymorphisms were genotyped in 948 patients with pCAD, and 763 controls. The distribution of the UCP2 A55V (C/T rs660339) and UCP3 -55 (rs1800849) was similar in patients and controls. However, under a recessive model, the UCP2 -866 (rs659366) A allele was associated with increased risk of developing pCAD (OR = 1.43, Pc = 0.003). On the other hand, patients with pCAD and UCP2 A55V (rs660339) TT showed high levels of visceral abdominal fat (VAF) (Pc = 0.002), low levels of subcutaneous abdominal fat (SAF) (Pc = 0.001) and high VAT/SAT ratio (Pc... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: UCPs polymorphisms; Premature coronary artery; Cardiovascular risk; Mexican population. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000300371 |
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