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  1 / 1820 MEDLINE  
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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


  2 / 1820 MEDLINE  
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[PMID]:28887661
[Au] Autor:Ferrão J; Silva M; Gonçalves L; Gomes S; Loureiro P; Coelho A; Miranda A; Seuanes F; Reis AB; Pina F; Maia R; Kjöllerström P; Monteiro E; Lacerda JF; Lavinha J; Gonçalves J; Faustino P
[Ad] Endereço:Departamento de Genética Humana, Instituto Nacional de Saúde Doutor Ricardo Jorge (INSA), Avenida Padre Cruz, 1649-016, Lisbon, Portugal.
[Ti] Título:Widening the spectrum of deletions and molecular mechanisms underlying alpha-thalassemia.
[So] Source:Ann Hematol;96(11):1921-1929, 2017 Nov.
[Is] ISSN:1432-0584
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:Inherited deletions of α-globin genes and/or their upstream regulatory elements (MCSs) give rise to α-thalassemia, an autosomal recessive microcytic hypochromic anemia. In this study, multiplex ligation-dependent probe amplification performed with commercial and synthetic engineered probes, Gap-PCR, and DNA sequencing were used to characterize lesions in the sub-telomeric region of the short arm of chromosome 16, possibly explaining the α-thalassemia/HbH disease phenotype in ten patients. We have found six different deletions, in heterozygosity, ranging from approximately 3.3 to 323 kb, two of them not previously described. The deletions fall into two categories: one includes deletions which totally remove the α-globin gene cluster, whereas the other includes deletions removing only the distal regulatory elements and keeping the α-globin genes structurally intact. An indel was observed in one patient involving the loss of the MCS-R2 and the insertion of 39 bp originated from a complex rearrangement spanning the deletion breakpoints. Finally, in another case, no α-globin gene cluster deletion was found and the patient revealed to be a very unusual case of acquired α-thalassemia-myelodysplastic syndrome. This study further illustrates the diversity of genomic lesions and underlying molecular mechanisms leading to α-thalassemia.
[Mh] Termos MeSH primário: Deleção de Genes
Hemoglobinas/genética
Mutação Puntual/genética
Talassemia alfa/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Sequência de Bases
Criança
Feminino
Seres Humanos
Masculino
Meia-Idade
Adulto Jovem
Talassemia alfa/diagnóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Hemoglobins)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171027
[Lr] Data última revisão:
171027
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170910
[St] Status:MEDLINE
[do] DOI:10.1007/s00277-017-3090-y


  3 / 1820 MEDLINE  
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[PMID]:28768839
[Au] Autor:Barker MK; Henderson AM; Naguib K; Vercauteren SM; Devlin AM; Albert AY; Bahizire E; Tugirimana PL; Akilimali PZ; Boy E; Green TJ; Karakochuk CD
[Ad] Endereço:Food, Nutrition, and Health and.
[Ti] Título:Serum Soluble Transferrin Receptor Concentrations Are Elevated in Congolese Children with Glucose-6-Phosphate Dehydrogenase Variants, but Not Sickle Cell Variants or α-Thalassemia.
[So] Source:J Nutr;147(9):1785-1794, 2017 Sep.
[Is] ISSN:1541-6100
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Anemia is common in Congolese children, and inherited blood disorders may be a contributing cause. The presence of sickle cell variants, X-linked glucose-6-phosphate dehydrogenase (G6PD) deficiency and α-thalassemia, has been previously reported. A- deficiency is characterized by the co-inheritance of 376 and 202 variants and is common in sub-Saharan Africa. We aimed to measure the associations between inherited blood disorders and hemoglobin, ferritin, and soluble transferrin receptor (sTfR) concentrations in Congolese children. Venous blood was collected from 744 children aged 6-59 mo from 2 provinces. We measured biomarkers of nutritional and inflammation status and malaria. Pyrosequencing was used to detect sickle cell variants. Polymerase chain reaction was used to detect variants and α-thalassemia deletions. Overall, 11% of children had a sickle cell variant, 19% of boys were A- hemizygotes, 12% and 10% of girls were A- hetero- or homozygotes, respectively, and 12% of children had α-thalassemia. Multivariable linear regression models (adjusted for age, province, altitude, malaria, and biomarkers of nutritional and inflammation status) showed that A- hemizygous boys and 376 homozygous girls had higher sTfR concentrations [geometric mean ratios (95% CIs): 1.20 (1.03, 1.39) and 1.25 (1.02, 1.53), respectively] than children with no variants. Hemoglobin and ferritin concentrations were not independently associated with any of the inherited blood disorder genotypes. We found that 2 variant genotypes were associated with elevated sTfR concentrations, which limits the accuracy of sTfR as a biomarker of iron status in this population.
[Mh] Termos MeSH primário: Anemia Ferropriva/sangue
Variação Genética
Genótipo
Deficiência de Glucosefosfato Desidrogenase/genética
Glucosefosfato Desidrogenase/genética
Ferro/deficiência
Receptores da Transferrina/sangue
[Mh] Termos MeSH secundário: Anemia Ferropriva/complicações
Anemia Falciforme/sangue
Anemia Falciforme/epidemiologia
Anemia Falciforme/genética
Biomarcadores/sangue
Pré-Escolar
República Democrática do Congo/epidemiologia
Feminino
Ferritinas/sangue
Deficiência de Glucosefosfato Desidrogenase/sangue
Deficiência de Glucosefosfato Desidrogenase/complicações
Deficiência de Glucosefosfato Desidrogenase/epidemiologia
Hemoglobinas/metabolismo
Seres Humanos
Lactente
Ferro/sangue
Masculino
Estado Nutricional
Fatores Sexuais
Talassemia alfa/sangue
Talassemia alfa/epidemiologia
Talassemia alfa/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (Hemoglobins); 0 (Receptors, Transferrin); 9007-73-2 (Ferritins); E1UOL152H7 (Iron); EC 1.1.1.49 (Glucosephosphate Dehydrogenase)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170913
[Lr] Data última revisão:
170913
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170804
[St] Status:MEDLINE
[do] DOI:10.3945/jn.117.252635


  4 / 1820 MEDLINE  
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[PMID]:28699687
[Au] Autor:Al Balushi HWM; Wali Y; Al Awadi M; Al-Subhi T; Rees DC; Brewin JN; Hannemann A; Gibson JS
[Ad] Endereço:Department of Veterinary Medicine, University of Cambridge, Cambridge, UK.
[Ti] Título:The super sickling haemoglobin HbS-Oman: a study of red cell sickling, K permeability and associations with disease severity in patients heterozygous for HbA and HbS-Oman (HbA/S-Oman genotype).
[So] Source:Br J Haematol;179(2):256-265, 2017 Oct.
[Is] ISSN:1365-2141
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Studying different sickle cell genotypes may throw light on the pathogenesis of sickle cell disease (SCD). Here, the clinical profile, red cell sickling and K permeability in 29 SCD patients (15 patients with severe disease and 14 with a milder form) of HbA/S-Oman genotype were analysed. The super sickling nature of this Hb variant was confirmed. The red cell membrane permeability to K was markedly abnormal with elevated activities of P , Gardos channel and KCl cotransporter (KCC). Results were consistent with Ca entry and Mg loss via P stimulating Gardos channel and KCC activities. The abnormal red cell behaviour was similar to that in the commonest genotype of SCD, HbSS, in which the level of mutated Hb is considerably higher. Although activities of all three K transporters also correlated with the level of HbS-Oman, there was no association between transport phenotype and disease severity. The super sickling behaviour of HbS-Oman may obviate the need for solute loss and red cell dehydration to encourage Hb polymerisation, required in other SCD genotypes. Disease severity was reduced by concurrent α thalassaemia, as observed in other SCD genotypes, and represents an obvious genetic marker for prognostic tests of severity in young SCD patients of the HbA/S-Oman genotype.
[Mh] Termos MeSH primário: Eritrócitos Anormais/metabolismo
Hemoglobina A/genética
Hemoglobinas Anormais/genética
Heterozigoto
Canais de Potássio Ativados por Cálcio de Condutância Intermediária/metabolismo
Potássio/metabolismo
Talassemia alfa
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Criança
Pré-Escolar
Feminino
Seres Humanos
Canais de Potássio Ativados por Cálcio de Condutância Intermediária/genética
Masculino
Meia-Idade
Permeabilidade
Índice de Gravidade de Doença
Talassemia alfa/genética
Talassemia alfa/metabolismo
[Pt] Tipo de publicação:CLINICAL TRIAL; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Hemoglobins, Abnormal); 0 (Intermediate-Conductance Calcium-Activated Potassium Channels); 0 (KCNN4 protein, human); 0 (hemoglobin S-Oman); 9034-51-9 (Hemoglobin A); RWP5GA015D (Potassium)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171019
[Lr] Data última revisão:
171019
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170713
[St] Status:MEDLINE
[do] DOI:10.1111/bjh.14851


  5 / 1820 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


  6 / 1820 MEDLINE  
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[PMID]:28575177
[Au] Autor:Wilburn CR; Bernard DW; Zieske AW; Andrieni J; Miller T; Wang P
[Ad] Endereço:From the Department of Pathology and Genomic Medicine and.
[Ti] Título:The Prevalence and Role of Hemoglobin Variants in Biometric Screening of a Multiethnic Population: One Large Health System's Experience.
[So] Source:Am J Clin Pathol;147(6):589-595, 2017 Jun 01.
[Is] ISSN:1943-7722
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Objectives: To characterize and quantitate hemoglobin (Hb) variants discovered during biometric hemoglobin A1c (HbA1c) analyses in a large multiethnic population with a focus on the effect of variants on testing method and results. Methods: In total, 13,913 individuals had their HbA1c measured via ion-exchange high-performance liquid chromatography. Samples that had a variant Hb detected or HbF fraction more than 25% underwent variant Hb characterization and confirmation by gel electrophoresis. RBC indices were also evaluated for possible concomitant thalassemia. Results: Of the 13,913 individuals evaluated, 524 (3.77%) had an Hb variant. The prevalence of each variant was as follows: HbS trait (n = 396, 2.85%), HbSS disease (n = 4, 0.03%), HbC trait (n = 85, 0.61%), HbCC disease (n = 2, 0.01%), HbSC disease (n = 5, 0.04%), HbE trait (n = 18, 0.13%), HbD or G trait (n = 9, 0.06%), HbS ß-thalassemia + disease (n = 1, 0.01%), hereditary persistence of HbF (n = 2, 0.01%), and HbMontgomery trait (n = 1, 0.01%). Concomitant α-thalassemia was detected in 20 (3.82%) of the 524 individuals with an Hb variant. Conclusions: This study represents one of the largest epidemiologic investigations into the prevalence of Hb variants in a North American metropolitan, multiethnic workforce and their dependents and reinforces the importance of method selection in populations with Hb variants.
[Mh] Termos MeSH primário: Hemoglobina A Glicada/análise
Talassemia alfa/epidemiologia
Talassemia beta/epidemiologia
[Mh] Termos MeSH secundário: Identificação Biométrica/métodos
Cromatografia Líquida de Alta Pressão/métodos
Feminino
Testes Hematológicos/métodos
Seres Humanos
Masculino
Prevalência
Talassemia alfa/sangue
Talassemia alfa/etnologia
Talassemia beta/sangue
Talassemia beta/etnologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Glycated Hemoglobin A); 0 (hemoglobin A1c protein, human)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170603
[St] Status:MEDLINE
[do] DOI:10.1093/ajcp/aqx032


  7 / 1820 MEDLINE  
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[PMID]:28541483
[Au] Autor:Sepúlveda N; Manjurano A; Campino SG; Lemnge M; Lusingu J; Olomi R; Rockett KA; Hubbart C; Jeffreys A; Rowlands K; Clark TG; Riley EM; Drakeley CJ; MalariaGEN Consortium
[Ad] Endereço:London School of Hygiene and Tropical Medicine.
[Ti] Título:Malaria Host Candidate Genes Validated by Association With Current, Recent, and Historical Measures of Transmission Intensity.
[So] Source:J Infect Dis;216(1):45-54, 2017 Jul 01.
[Is] ISSN:1537-6613
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Background: Human malaria susceptibility is determined by multiple genetic factors. It is unclear, however, which genetic variants remain important over time. Methods: Genetic associations of 175 high-quality polymorphisms within several malaria candidate genes were examined in a sample of 8096 individuals from northeast Tanzania using altitude, seroconversion rates, and parasite rates as proxies of historical, recent, and current malaria transmission intensity. A principal component analysis was used to derive 2 alternative measures of overall malaria propensity of a location across different time scales. Results: Common red blood cell polymorphisms (ie, hemoglobin S, glucose-6-phosphate dehydrogenase, and α-thalassemia) were the only ones to be associated with all 3 measures of transmission intensity and the first principal component. Moderate associations were found between some immune response genes (ie, IL3 and IL13) and parasite rates, but these could not be reproduced using the alternative measures of malaria propensity. Conclusions: We have demonstrated the potential of using altitude and seroconversion rate as measures of malaria transmission capturing medium- to long-term time scales to detect genetic associations that are likely to persist over time. These measures also have the advantage of minimizing the deleterious effects of random factors affecting parasite rates on the respective association signals.
[Mh] Termos MeSH primário: Estudos de Associação Genética
Interações Hospedeiro-Parasita/genética
Malária Falciparum/genética
Malária Falciparum/transmissão
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Pré-Escolar
Estudos Transversais
Eritrócitos
Feminino
Glucosefosfato Desidrogenase/genética
Hemoglobina Falciforme/genética
Seres Humanos
Lactente
Interleucina-3/genética
Modelos Lineares
Masculino
Meia-Idade
Análise Multivariada
Plasmodium falciparum
Polimorfismo de Nucleotídeo Único
Prevalência
Análise de Componente Principal
Reprodutibilidade dos Testes
Tanzânia
Adulto Jovem
Talassemia alfa/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Hemoglobin, Sickle); 0 (IL3 protein, human); 0 (Interleukin-3); EC 1.1.1.49 (Glucosephosphate Dehydrogenase)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170912
[Lr] Data última revisão:
170912
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170526
[St] Status:MEDLINE
[do] DOI:10.1093/infdis/jix250


  8 / 1820 MEDLINE  
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[PMID]:28537755
[Au] Autor:Wang W; Yuan Y; Zheng H; Wang Y; Zeng D; Yang Y; Yi X; Xia Y; Zhu C
[Ad] Endereço:1 Department of Prepotency and Genetics, Affiliated Hospital of Guilin Medical University , Guilin, Guangxi, China .
[Ti] Título:A Pilot Study of Noninvasive Prenatal Diagnosis of Alpha- and Beta-Thalassemia with Target Capture Sequencing of Cell-Free Fetal DNA in Maternal Blood.
[So] Source:Genet Test Mol Biomarkers;21(7):433-439, 2017 Jul.
[Is] ISSN:1945-0257
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:AIMS: Thalassemia is a dangerous hematolytic genetic disease. In south China, ∼24% Chinese carry alpha-thalassemia or beta-thalassemia gene mutations. Given the fact that the invasive sampling procedures can only be performed by professionals in experienced centers, it may increase the risk of miscarriage or infection. Thus, most people are worried about the invasive operation. As such, a noninvasive and accurate prenatal diagnosis is needed for appropriate genetic counseling for families with high risks. Here we sought to develop capture probes and their companion analysis methods for the noninvasive prenatal detection of deletional and nondeletional thalassemia. MATERIALS AND METHODS: Two families diagnosed as carriers of either beta-thalassemia gene or Southeast Asian deletional alpha-thalassemia gene mutation were recruited. The maternal plasma and amniotic fluid were collected for prenatal diagnosis. Probes targeting exons of the genes of interest and the highly heterozygous SNPs within the 1Mb flanking region were designed. The target capture sequencing was performed with plasma DNA from the pregnant woman and genomic DNA from the couples and their children. Then the parental haplotype was constructed by the trios-based strategy. The fetal haplotype was deduced from the parental haplotype with a hidden Markov model-based algorithm. RESULTS: The fetal genotypes were successfully deduced in both families noninvasively. The noninvasively constructed haplotypes of both fetuses were identical to the invasive prenatal diagnosis results with an accuracy rate of 100% in the target region. CONCLUSION: Our study demonstrates that the effective noninvasive prenatal diagnosis of alpha-thalassemia and beta-thalassemia can be achieved with the targeted capture sequencing and the haplotype-assisted analysis method.
[Mh] Termos MeSH primário: Diagnóstico Pré-Natal/métodos
Talassemia alfa/diagnóstico
Talassemia beta/diagnóstico
[Mh] Termos MeSH secundário: Adulto
Líquido Amniótico
China
DNA/genética
Sondas de DNA
Feminino
Feto
Aconselhamento Genético
Genótipo
Haplótipos
Seres Humanos
Linhagem
Projetos Piloto
Polimorfismo de Nucleotídeo Único/genética
Gravidez
Análise de Sequência de DNA/métodos
Talassemia alfa/sangue
Talassemia alfa/genética
Talassemia beta/sangue
Talassemia beta/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA Probes); 9007-49-2 (DNA)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170925
[Lr] Data última revisão:
170925
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170525
[St] Status:MEDLINE
[do] DOI:10.1089/gtmb.2016.0411


  9 / 1820 MEDLINE  
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[PMID]:28497611
[Au] Autor:Singha K; Srivorakun H; Fucharoen G; Fucharoen S
[Ad] Endereço:Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand.
[Ti] Título:Co-inheritance of α -thalassemia elevates Hb A level in homozygous Hb E: Diagnostic implications.
[So] Source:Int J Lab Hematol;39(5):508-512, 2017 Oct.
[Is] ISSN:1751-553X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: Differentiation of homozygous hemoglobin (Hb) E with and without α -thalassemia is subtle on routine hematological ground. We examined in a large cohort of homozygous Hb E if the level of Hb A is helpful. METHODS: A total of 592 subjects with homozygous Hb E were recruited from ongoing thalassemia screening program. Additionally, five couples at risk of having fetuses with Hb Bart's hydrops fetalis who were homozygous Hb E were also investigated. Hb analysis was performed using capillary electrophoresis system. Globin genotypes were defined by DNA analysis. RESULTS: Subjects were classified into four groups including pure homozygous Hb E (n=532), homozygous Hb E/α -thalassemia (n=48), Hb Constant Spring EE Bart's disease (n=8), and Hb EE Bart's disease (n=4). The levels of Hb A were found, respectively, to be 4.97±0.69, 6.64±1.02, 4.86±0.87, and 7.60±1.04%. Among five couples at risk, α -thalassemia was identified in three subjects with Hb A >6.0%. CONCLUSIONS: Increased Hb A level is a useful marker for differentiation of homozygous Hb E with and without α -thalassemia. This should lead to a significant reduction in number of referral cases of homozygous Hb E for molecular testing of α -thalassemia in routine practice.
[Mh] Termos MeSH primário: Hemoglobina A2/genética
Hemoglobina E/genética
Homozigoto
Padrões de Herança
Talassemia alfa/diagnóstico
Talassemia alfa/genética
[Mh] Termos MeSH secundário: Adulto
Biomarcadores
Eletroforese Capilar
Índices de Eritrócitos
Feminino
Genótipo
Seres Humanos
Hidropisia Fetal/diagnóstico
Hidropisia Fetal/genética
Masculino
Mutação
Talassemia alfa/sangue
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 9034-53-1 (Hemoglobin A2); 9034-61-1 (Hemoglobin E)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171019
[Lr] Data última revisão:
171019
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170513
[St] Status:MEDLINE
[do] DOI:10.1111/ijlh.12677


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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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