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1.
Hemoglobin ; 43(3): 162-165, 2019 May.
Artículo en Inglés | MEDLINE | ID: mdl-31339392

RESUMEN

In Bangladesh, the practice of ß-thalassemia (ß-thal) carrier screening and prenatal diagnosis (PND) by ß-globin gene sequencing has been initiated to prevent the birth of affected children. The study aimed to describe a novel de novo mutation of the ß-globin gene and its clinical implication. Out of 100 Bangladeshi ß-thal carrier families, one patient with hematological and clinical features associated with ß-thal and her parents were included. Molecular characterizations of ß-globin gene mutations were performed by direct sequencing. A novel nucleotide deletion mutation at codon 8 in the first exon of the ß-globin gene (HBB: c.27delG) was found in a 1-year-old child of the studied family in a heterozygous state along with common Hb E (HBB: c.79G>A). The mutation caused a frameshift to a new stop codon at codon 18 resulting in a ß0-thal phenotype. The proband exhibited a ß-thal intermedia (ß-TI)-like genotype, however, showed ß-thal major (ß-TM)-like complications and was transfusion-dependent. Her mother had a profile consistent with the Hb E trait, while the father had normal hematological indices. Mutation analyses revealed the mother to be heterozygous for Hb E, while the father had a normal genotype. The novel mutation was assumed to be inherited de novo by the paternity test. The study documented a novel pathogenic mutation in the ß-globin gene in a Bangladeshi family by ß-globin gene sequencing.


Asunto(s)
Codón , Globinas beta/genética , Talasemia beta/diagnóstico , Talasemia beta/genética , Alelos , Secuencia de Aminoácidos , Sustitución de Aminoácidos , Bangladesh , Secuencia de Bases , Biomarcadores , Análisis Mutacional de ADN , Índices de Eritrocitos , Exones , Femenino , Mutación del Sistema de Lectura , Genotipo , Humanos , Lactante , Fenotipo , Talasemia beta/sangre
2.
J Nanosci Nanotechnol ; 12(5): 4384-7, 2012 May.
Artículo en Inglés | MEDLINE | ID: mdl-22852413

RESUMEN

Fabrication of a hybrid consists of gold nanoparticles and multi walled carbon nanotubes (MWCNTs) with the help of poly (amino acid) was investigated. Poly(acryloyl beta-alanine) was synthesized by precipitation polymerization in tetrahydrofuran. The polymers were used to form hybrids with MWCNTs in aqueous media. Subsequently, the polymer functionalized MWCNTs were fabricated by in situ formed gold nanoparticles. The fabrication by gold nanoparticles was confirmed by transmission electron microscopic analyses. The fabrication was attempted with different concentrations of lithium auric chloride solutions in the range of 0.1-1.2 mM in water. The lower concentration of the gold precursor solution resulted in the formation and attachment of gold nanoparticles without aggregation while the higher concentration above 1.0 mM led to the aggregation of gold nanoparticles. The gold nanoparticles were observed only on the surface of MWCNTs and none was in the bulk aqueous phase.

3.
Microbiol Resour Announc ; 10(27): e0052421, 2021 Jul 08.
Artículo en Inglés | MEDLINE | ID: mdl-34236224

RESUMEN

This study reports the coding-complete genome sequence, with variant identifications and phylogenetic analysis, of a severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) P.1 variant (20J/501Y.V3), obtained from an oropharyngeal swab specimen from a female Bangladeshi patient diagnosed with coronavirus disease 2019 (COVID-19) with no travel history.

4.
Microbiol Resour Announc ; 9(31)2020 Jul 30.
Artículo en Inglés | MEDLINE | ID: mdl-32732236

RESUMEN

This study determined five coding-complete genome sequences of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) strains isolated from oropharyngeal swab specimens of Bangladeshi patients who were diagnosed with coronavirus disease 2019 (COVID-19) and had no travel history.

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