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Referências encontradas : 530 [refinar]
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[PMID]:28743675
[Au] Autor:Cardiero G; Scarano C; Musollino G; Di Noce F; Prezioso R; Dembech S; La Porta G; Caldora M; Bisconte MG; Colella Bisogno R; Lacerra G
[Ad] Endereço:Istituto di Genetica e Biofisica "Adriano Buzzati-Traverso" - CNR, Napoli, Italy.
[Ti] Título:Role of nonsense-mediated decay and nonsense-associated altered splicing in the mRNA pattern of two new α-thalassemia mutants.
[So] Source:Int J Biochem Cell Biol;91(Pt B):212-222, 2017 10.
[Is] ISSN:1878-5875
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:α-thalassemia is a common disease characterized mainly by deletion mutants. We identified two new α-thalassemia pointform mutants: α1cod22 GGC>GGT Gly>Gly creating a 5' splicing sequence and α1cod23 GAG>TAG Glu>stop. We performed qualitative and semi-quantitative analysis of the mRNA molecules, from carriers' blood, to define the molecular mechanisms giving rise to the thalassemia phenotype. In vitro analysis using α-globin constructs and cycloheximide was performed to evaluate if the mutants are substrates of nonsense-mediated mRNA decay (NMD). In the α1cod22 GGC>GGT the new 5' splicing site in exon 1 completely substitutes the normal one. We demonstrated the presence of mRNA decay as the abnormally spliced mRNA was consistent in the nucleus, partially degraded in the cytoplasm of cultured cells, but only 2.8% in the reticulocytes. The analysis of the αcod23 transcript showed an escape from the NMD as for the human ß-globin transcript with nonsense mutations in the first exon: the anomalous mRNA was reduced in the nucleus, followed by only a slight lowering from 32% to 27% of the normal α1 mRNA in the reticulocytes. In both the mutants we showed a moderate sensitivity to the NMD assay and we speculate the activation of other RNA surveillance mechanisms for the αcod22 mutant. No activation of cryptic splice sites was detected and no role could be assigned to the nonsense-associated altered splicing. Studies on transcripts from patient cells represent a very useful approach providing considerable information about the processes occuring in vivo.
[Mh] Termos MeSH primário: Processamento Alternativo
Degradação do RNAm Mediada por Códon sem Sentido
Talassemia alfa/genética
[Mh] Termos MeSH secundário: Sequência de Bases
Feminino
Células HeLa
Seres Humanos
Masculino
Mutação
Linhagem
RNA Mensageiro/genética
alfa-Globinas/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (RNA, Messenger); 0 (alpha-Globins)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:180214
[Lr] Data última revisão:
180214
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170727
[St] Status:MEDLINE


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[PMID]:28453575
[Au] Autor:Hodonsky CJ; Jain D; Schick UM; Morrison JV; Brown L; McHugh CP; Schurmann C; Chen DD; Liu YM; Auer PL; Laurie CA; Taylor KD; Browning BL; Li Y; Papanicolaou G; Rotter JI; Kurita R; Nakamura Y; Browning SR; Loos RJF; North KE; Laurie CC; Thornton TA; Pankratz N; Bauer DE; Sofer T; Reiner AP
[Ad] Endereço:Department of Epidemiology, University of North Carolina Gillings School of Public Health, Chapel Hill, NC, United States of America.
[Ti] Título:Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos.
[So] Source:PLoS Genet;13(4):e1006760, 2017 Apr.
[Is] ISSN:1553-7404
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Prior GWAS have identified loci associated with red blood cell (RBC) traits in populations of European, African, and Asian ancestry. These studies have not included individuals with an Amerindian ancestral background, such as Hispanics/Latinos, nor evaluated the full spectrum of genomic variation beyond single nucleotide variants. Using a custom genotyping array enriched for Amerindian ancestral content and 1000 Genomes imputation, we performed GWAS in 12,502 participants of Hispanic Community Health Study and Study of Latinos (HCHS/SOL) for hematocrit, hemoglobin, RBC count, RBC distribution width (RDW), and RBC indices. Approximately 60% of previously reported RBC trait loci generalized to HCHS/SOL Hispanics/Latinos, including African ancestral alpha- and beta-globin gene variants. In addition to the known 3.8kb alpha-globin copy number variant, we identified an Amerindian ancestral association in an alpha-globin regulatory region on chromosome 16p13.3 for mean corpuscular volume and mean corpuscular hemoglobin. We also discovered and replicated three genome-wide significant variants in previously unreported loci for RDW (SLC12A2 rs17764730, PSMB5 rs941718), and hematocrit (PROX1 rs3754140). Among the proxy variants at the SLC12A2 locus we identified rs3812049, located in a bi-directional promoter between SLC12A2 (which encodes a red cell membrane ion-transport protein) and an upstream anti-sense long-noncoding RNA, LINC01184, as the likely causal variant. We further demonstrate that disruption of the regulatory element harboring rs3812049 affects transcription of SLC12A2 and LINC01184 in human erythroid progenitor cells. Together, these results reinforce the importance of genetic study of diverse ancestral populations, in particular Hispanics/Latinos.
[Mh] Termos MeSH primário: Proteínas de Homeodomínio/genética
Complexo de Endopeptidases do Proteassoma/genética
RNA Longo não Codificante/genética
Membro 2 da Família 12 de Carreador de Soluto/genética
Proteínas Supressoras de Tumor/genética
alfa-Globinas/genética
[Mh] Termos MeSH secundário: Contagem de Eritrócitos
Eritrócitos
Feminino
Estudo de Associação Genômica Ampla
Hemoglobinas/genética
Hispano-Americanos/genética
Seres Humanos
Masculino
Polimorfismo de Nucleotídeo Único
Globinas beta/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Hemoglobins); 0 (Homeodomain Proteins); 0 (RNA, Long Noncoding); 0 (SLC12A2 protein, human); 0 (Solute Carrier Family 12, Member 2); 0 (Tumor Suppressor Proteins); 0 (alpha-Globins); 0 (beta-Globins); 0 (long noncoding RNA LINC01186, human); 0 (prospero-related homeobox 1 protein); EC 3.4.25.1 (PSMB5 protein, human); EC 3.4.25.1 (Proteasome Endopeptidase Complex)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:171228
[Lr] Data última revisão:
171228
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170429
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pgen.1006760


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[PMID]:29049312
[Au] Autor:Borgio JF
[Ad] Endereço:Department of Genetic Research, Institute for Research and Medical Consultation (IRMC), Imam Abdulrahman Bin Faisal University (Formerly: University of Dammam), Dammam, Saudi Arabia.
[Ti] Título:Impact of annotation error in α-globin genes on molecular diagnosis.
[So] Source:PLoS One;12(10):e0185270, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Recent studies on the variants in duplicated human alpha globin genes (HBA2 and HBA1) actively target the α-globin gene as molecular modulators for the treatment of ß-thalassemia major. Identification of the exact position of variant in HBA1, HBA2 or its patchworks is mandatory to support the therapeutic aims in ß-thalassemia major, by identifying specific modulators for the reactivation of fetal hemoglobin production. Hence, accurate identification of the variants in α-globin genes is crucial for the proper diagnosis, treatment and genetic counseling. METHOD: The objective was to reveal the annotation errors produced in α-globin gene sequence analysis while using different analytic tools. An HBA2 gene sequence with the HBA2:c.95+2_95+6delTGAGG variant and a recently reported HBA12 gene convert have been taken as examples to prove annotation error in α-globin gene from different analytic tools. RESULTS AND DISCUSSION: Although various bioinformatics tools used to predict variants are usually of high reliability, the current study using the an alpha globin 2 sequence with the HBA2:c.95+2_95+6delTGAGG variant and a recently reported HBA12 gene convert, has showcased ambiguous outputs among the three bioinformatics tools used and against the manual analytical method adopted. CONCLUSIONS: This report emphasizes the necessity for caution in the usage of DNA sequence analysis tools during molecular diagnosis and the importance of the selection of more appropriate tools for analysis. Furthermore, ethnic specific sequences should be considered as reference sequence for the analysis to bypass sequence dissimilarities among diverse populations.
[Mh] Termos MeSH primário: alfa-Globinas/genética
Talassemia beta/diagnóstico
[Mh] Termos MeSH secundário: Seres Humanos
Técnicas de Diagnóstico Molecular
Talassemia beta/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (alpha-Globins)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171107
[Lr] Data última revisão:
171107
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171020
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0185270


  4 / 530 MEDLINE  
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[PMID]:28737770
[Au] Autor:Hanssen LLP; Kassouf MT; Oudelaar AM; Biggs D; Preece C; Downes DJ; Gosden M; Sharpe JA; Sloane-Stanley JA; Hughes JR; Davies B; Higgs DR
[Ad] Endereço:MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford OX3 9DS, UK.
[Ti] Título:Tissue-specific CTCF-cohesin-mediated chromatin architecture delimits enhancer interactions and function in vivo.
[So] Source:Nat Cell Biol;19(8):952-961, 2017 Aug.
[Is] ISSN:1476-4679
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:The genome is organized via CTCF-cohesin-binding sites, which partition chromosomes into 1-5 megabase (Mb) topologically associated domains (TADs), and further into smaller sub-domains (sub-TADs). Here we examined in vivo an ∼80 kb sub-TAD, containing the mouse α-globin gene cluster, lying within a ∼1 Mb TAD. We find that the sub-TAD is flanked by predominantly convergent CTCF-cohesin sites that are ubiquitously bound by CTCF but only interact during erythropoiesis, defining a self-interacting erythroid compartment. Whereas the α-globin regulatory elements normally act solely on promoters downstream of the enhancers, removal of a conserved upstream CTCF-cohesin boundary extends the sub-TAD to adjacent upstream CTCF-cohesin-binding sites. The α-globin enhancers now interact with the flanking chromatin, upregulating expression of genes within this extended sub-TAD. Rather than acting solely as a barrier to chromatin modification, CTCF-cohesin boundaries in this sub-TAD delimit the region of chromatin to which enhancers have access and within which they interact with receptive promoters.
[Mh] Termos MeSH primário: Proteínas de Ciclo Celular/metabolismo
Montagem e Desmontagem da Cromatina
Cromatina/metabolismo
Proteínas Cromossômicas não Histona/metabolismo
Células-Tronco Embrionárias/metabolismo
Células Eritroides/metabolismo
Células-Tronco Hematopoéticas/metabolismo
Proteínas Repressoras/metabolismo
alfa-Globinas/metabolismo
[Mh] Termos MeSH secundário: Animais
Sítios de Ligação
Antígenos de Grupos Sanguíneos/metabolismo
Fator de Ligação a CCCTC
Linhagem Celular
Elementos Facilitadores Genéticos
Feminino
Regulação da Expressão Gênica no Desenvolvimento
Genótipo
Masculino
Camundongos Endogâmicos C57BL
Família Multigênica
Mutação
Fenótipo
Regiões Promotoras Genéticas
Ligação Proteica
Transfecção
alfa-Globinas/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Blood Group Antigens); 0 (CCCTC-Binding Factor); 0 (Cell Cycle Proteins); 0 (Chromatin); 0 (Chromosomal Proteins, Non-Histone); 0 (Ctcf protein, mouse); 0 (Repressor Proteins); 0 (TER-119 antigen, mouse); 0 (alpha-Globins); 0 (cohesins)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170725
[St] Status:MEDLINE
[do] DOI:10.1038/ncb3573


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[PMID]:28735726
[Au] Autor:Tomasco IH; Boullosa N; Hoffmann FG; Lessa EP
[Ad] Endereço:Departamento de Ecología y Evolución, Facultad de Ciencias, Universidad de la República, Iguá 4225, Montevideo, 11400, Uruguay. Electronic address: ivanna.tomasco@gmail.com.
[Ti] Título:Molecular adaptive convergence in the α-globin gene in subterranean octodontid rodents.
[So] Source:Gene;628:275-280, 2017 Sep 10.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Tuco-tucos (Ctenomys) and related coruros (Spalacopus) are South American subterranean rodents. An energetically demanding lifestyle within the hypoxic/hypercapnic underground atmosphere may change the selective regime on genes involved in O transport in blood. In addition, some species of tuco-tucos may be found at high altitude, thus facing additional reductions in changes O availabily. We examined sequence variation in the alpha globin subunit gene of hemoglobine in these lineages, within a robust phylogenetic context. Using different approaches (classical and Bayesian maximum likelihood (PAML/Datamonkey) and alternatives methods (TreeSAAP)) we found at least 2 sites with evidence of positive selection in the basal branch of Octodontidae, but not in tuco-tucos. These results suggest some adaptive changes associated to fossoriality, but not strictly to life underground.
[Mh] Termos MeSH primário: Adaptação Biológica/genética
Variação Genética
Roedores/genética
alfa-Globinas/genética
[Mh] Termos MeSH secundário: Sequência de Aminoácidos
Substituição de Aminoácidos
Animais
Evolução Molecular
Ordem dos Genes
Mutação
Filogenia
Roedores/classificação
Seleção Genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (alpha-Globins)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171009
[Lr] Data última revisão:
171009
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170725
[St] Status:MEDLINE


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[PMID]:28643346
[Au] Autor:Vasseur C; Domingues-Hamdi E; Ledudal K; Le Corvoisier P; Barau C; Ghaleh B; Rialland A; Pissard S; Galactéros F; Baudin-Creuza V
[Ad] Endereço:Institut National de la Santé et de la Recherche Médicale (Inserm)-U955, équipe 2 : Transfusion et Maladies du Globule Rouge, Institut Mondor de Recherche Biomédicale (IMRB), Université de Paris Est Créteil (UPEC), Créteil, France.
[Ti] Título:Red blood cells free α-haemoglobin pool: a biomarker to monitor the ß-thalassemia intermedia variability. The ALPHAPOOL study.
[So] Source:Br J Haematol;179(1):142-153, 2017 Oct.
[Is] ISSN:1365-2141
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:The severity of ß-thalassaemia (ß-thal) intermedia is mainly correlated to the degree of imbalanced α/non α-globin chain synthesis. The phenotypic diversity of ß-thal depends on this imbalance and reflects all possible combinations of α- and ß-globin genotypes, levels of fetal haemoglobin (HbF) and co-inheritance of other modulating factors. This study aimed to demonstrate the validity of a new surrogate of α/non α-globin biosynthetic ratio by measuring the soluble α-Hb pool in lysed red blood cells. Our results confirm that the α-Hb pool measurement allows a good discrimination between ß-thal intermedia patients, controls and α-thal patients (P < 0·003). Receiver operator characteristic analyses revealed an area under the curve of 0·978 for the α-Hb pool measurement at a threshold of 120 ng free α-Hb/mg of total Hb/ml of haemolysate (ppm) with a sensitivity and specificity of 86% and 100%, respectively, to discriminate between ß-thal and not ß-thal subjects. Significant correlations were observed between the α-Hb pool and biological parameters of ß-thal, the most significant association being observed with red cell hexokinase activity. This study indicates that the α-Hb pool could be a new marker for assistance in diagnostic orientation of ß-thal intermedia patients and may be clinically useful for monitoring the evolution of the disequilibrium of globin synthesis in response to treatments.
[Mh] Termos MeSH primário: Eritrócitos/metabolismo
alfa-Globinas/metabolismo
Talassemia beta/sangue
Talassemia beta/diagnóstico
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Biomarcadores
Estudos de Casos e Controles
Feminino
França
Genótipo
Testes Hematológicos
Seres Humanos
Masculino
Meia-Idade
Mutação
Reprodutibilidade dos Testes
Sensibilidade e Especificidade
Adulto Jovem
alfa-Globinas/genética
Talassemia alfa/sangue
Talassemia alfa/genética
Globinas beta/genética
Talassemia beta/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (alpha-Globins); 0 (beta-Globins)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171009
[Lr] Data última revisão:
171009
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170624
[St] Status:MEDLINE
[do] DOI:10.1111/bjh.14800


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[PMID]:28532286
[Au] Autor:Brunner-Agten S; von Känel T; Röthlisberger B; Broquet C; Huber AR
[Ad] Endereço:a Institute of Laboratory Medicine , Canton Hospital Aarau , Aarau , Switzerland.
[Ti] Título:Hb Bakersfield (HBA1: c.151_152insGGAGCC): The Insertion of Arg-His Between Codons 49 and 50 of the α1-Globin Chain Leads to Increased Oxygen Affinity.
[So] Source:Hemoglobin;41(1):1-5, 2017 Jan.
[Is] ISSN:1532-432X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:We describe an insertion variant on the α1-globin gene (HBA1) identified in a 49-year-old woman of Jurassian ancestry presenting with macrocytosis and erythrocytosis. The variant resulted in a peak of 15.5% of the total hemoglobin (Hb) on high performance liquid chromatography (HPLC). Stability and oxygen affinity testing revealed that the variant was stable and had an increased oxygen affinity. Molecular genetic testing detected the heterozygous sequence variant Hb Bakersfield [α50(CE8)His→0; Arg-Ser-His- inserted between 49(CE7) and 51(CE9) of α1; HBA1: c.151_152insGGAGCC (p.Ser50_His51insArgSer)] in the index patient, one of her sons, as well as in two of her grandchildren, who showed a similar hematological pattern.
[Mh] Termos MeSH primário: Substituição de Aminoácidos
Códon
Hemoglobinas Anormais/genética
Hemoglobinas Anormais/metabolismo
Mutagênese Insercional
Oxigênio/metabolismo
alfa-Globinas/genética
alfa-Globinas/metabolismo
[Mh] Termos MeSH secundário: Adulto
Pré-Escolar
Análise Mutacional de DNA
Feminino
Hemoglobinas Anormais/química
Heterozigoto
Seres Humanos
Lactente
Cinética
Masculino
Meia-Idade
Modelos Moleculares
Conformação Molecular
Linhagem
Ligação Proteica
Adulto Jovem
alfa-Globinas/química
Globinas beta/química
Globinas beta/metabolismo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Codon); 0 (Hemoglobins, Abnormal); 0 (alpha-Globins); 0 (beta-Globins); S88TT14065 (Oxygen)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170707
[Lr] Data última revisão:
170707
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170524
[St] Status:MEDLINE
[do] DOI:10.1080/03630269.2017.1302467


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[PMID]:28475397
[Au] Autor:He S; Qin Q; Lin L; Chen Q; Yi S; Wei H; Du J; Zheng C; Qiu X; Chen B
[Ad] Endereço:a Prenatal Diagnostic Center , Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , Guangxi , People's Republic of China.
[Ti] Título:Complex Interaction of Hb Q-Thailand with α - and ß -Thalassemia in a Chinese Family.
[So] Source:Hemoglobin;41(1):68-72, 2017 Jan.
[Is] ISSN:1532-432X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Hb Q-Thailand [α74(EF3)Asp→His (α1); HBA1: c.223 G>C] is an abnormal hemoglobin (Hb), variant found mainly in China and Southeast Asian countries. The association of the α -Thailand allele with other globin gene disorders has important implications in diagnosis. Here, we report a hitherto undescribed condition of patients with a double heterozygosity for Hb Q-Thailand with α -thalassemia (α -thal) and in combination with ß -thalassemia (ß -thal) in a Chinese family. Our study will provide some clinical manifestations, laboratory diagnosis and genetic counseling for complex hemoglobinopathies.
[Mh] Termos MeSH primário: Hemoglobinas Anormais/genética
Mutação
alfa-Globinas/genética
Talassemia alfa/diagnóstico
Talassemia alfa/genética
Talassemia beta/diagnóstico
Talassemia beta/genética
[Mh] Termos MeSH secundário: Adulto
Grupo com Ancestrais do Continente Asiático/genética
Criança
China
Análise Mutacional de DNA
Feminino
Estudos de Associação Genética
Hemoglobinopatias/diagnóstico
Hemoglobinopatias/genética
Heterozigoto
Seres Humanos
Masculino
Fenótipo
Talassemia alfa/sangue
Talassemia beta/sangue
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Hemoglobins, Abnormal); 0 (alpha-Globins); 107527-63-9 (hemoglobin Q Thailand)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170707
[Lr] Data última revisão:
170707
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170506
[St] Status:MEDLINE
[do] DOI:10.1080/03630269.2017.1295985


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[PMID]:28395547
[Au] Autor:Chen B; Lin L; Yi S; Chen Q; Wei H; Li G; Zheng C; He S; Qiu X
[Ad] Endereço:a Prenatal Diagnosis Center , Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , People's Republic of China.
[Ti] Título:A Novel Mutation of the α2-Globin Gene Causing α -Thalassemia: Hb Nanning (HBA2: c.369_370delinsGA).
[So] Source:Hemoglobin;41(1):56-58, 2017 Jan.
[Is] ISSN:1532-432X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:We report a novel mutation on the α2-globin gene, Hb Nanning (HBA2:c.369_370delinsGA) detected in a Chinese family. This mutation gives rise to a previously undescribed hemoglobin (Hb) variant that was undetectable by various separation techniques. Both carriers of the mutation have mean corpuscular volume (MCV) and mean corpuscular Hb (MCH) values that are below normal, as would be predicted for an α -thalassemia (α -thal) patient.
[Mh] Termos MeSH primário: Hemoglobina A2/genética
Hemoglobinas Anormais/genética
Deleção de Sequência
alfa-Globinas/genética
Talassemia alfa/diagnóstico
Talassemia alfa/genética
[Mh] Termos MeSH secundário: Adolescente
Alelos
Substituição de Aminoácidos
Biomarcadores
Códon
Análise Mutacional de DNA
Índices de Eritrócitos
Feminino
Estudos de Associação Genética
Heterozigoto
Seres Humanos
Masculino
Meia-Idade
Fenótipo
Adulto Jovem
Talassemia alfa/sangue
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (Codon); 0 (Hemoglobins, Abnormal); 0 (alpha-Globins); 9034-53-1 (Hemoglobin A2)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170707
[Lr] Data última revisão:
170707
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170412
[St] Status:MEDLINE
[do] DOI:10.1080/03630269.2017.1302950


  10 / 530 MEDLINE  
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[PMID]:28391745
[Au] Autor:Cappabianca MP; Colosimo A; Sabatucci A; Dainese E; Di Biagio P; Piscitelli R; Sarra O; Zei D; Amato A
[Ad] Endereço:a Azzociazione Nazionale per la lotta alla Microcitemia in Italia (ANMI) Onlus, Centro Studi Microcitemie Roma , Roma , Italia.
[Ti] Título:A Clinical Update of the Hb Siirt [ß27(B9)Ala→Gly; HBB: c.83C>G] Hemoglobin Variant.
[So] Source:Hemoglobin;41(1):53-55, 2017 Jan.
[Is] ISSN:1532-432X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:We report a clinical update of the hemoglobin (Hb) variant [ß27(B9)Ala→Gly; HBB: c.83C>G], named Hb Siirt, that was previously described as a silent variant in a 23-year-old Kurdish female. The patient was also a carrier of the codon 5 (-CT) (HBB: c.17_18delCT) frameshift mutation and of the ααα triplication. Her initial moderate ß-thalassemia intermedia (ß-TI) phenotype worsened with time, causing the patient to become a transfusion-dependent subject at the age of ∼40 years. Subsequent molecular characterization of both parents revealed that the Hb Siirt variant was inherited by the mother, while the other two globin alterations (HBB: c.17_18delCT and ααα triplication) were genetically transmitted by the father. The latter remained a carrier of a mild ß-TI phenotype throughout his life, at least until the age of 65 years. We hypothesize that the worsened clinical conditions in the daughter were due to the additional, maternally inherited Hb Siirt variant. However, protein 3D conformational analysis did not seem to reveal substantial overall structural changes. Among the other three described variants [Hb Volga (HBB: c.83C>A), Hb Knossos (HBB: c.82 G>T), Hb Grange-Blanche (HBB: c.83C>T] that are due to nucleotide substitutions at codon 27 of the ß-globin gene; only Hb Knossos causes a ß -thalassemia (ß -thal) phenotype.
[Mh] Termos MeSH primário: Alelos
Substituição de Aminoácidos
Códon
Hemoglobinas Anormais/genética
Globinas beta/genética
[Mh] Termos MeSH secundário: Índices de Eritrócitos
Feminino
Estudos de Associação Genética
Genótipo
Heme/química
Heme/metabolismo
Hemoglobinas Anormais/química
Hemoglobinas Anormais/metabolismo
Heterozigoto
Seres Humanos
Modelos Moleculares
Conformação Molecular
Oxigênio/metabolismo
Fenótipo
Ligação Proteica
Adulto Jovem
alfa-Globinas/genética
Globinas beta/química
Globinas beta/metabolismo
Talassemia beta/sangue
Talassemia beta/diagnóstico
Talassemia beta/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Codon); 0 (Hemoglobins, Abnormal); 0 (alpha-Globins); 0 (beta-Globins); 42VZT0U6YR (Heme); S88TT14065 (Oxygen)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170707
[Lr] Data última revisão:
170707
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170411
[St] Status:MEDLINE
[do] DOI:10.1080/03630269.2017.1302469



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