RESUMO
Identification of two novel HLA alleles in Russian bone marrow donors.
Assuntos
Alelos , Doadores de Tecidos , Humanos , Federação Russa , Antígeno HLA-A2/genética , Antígeno HLA-A2/imunologia , Transplante de Medula Óssea , Antígeno HLA-B40/genética , Antígeno HLA-B40/imunologia , Éxons , Teste de Histocompatibilidade , Medula Óssea , Análise de Sequência de DNARESUMO
Detection of radiation-induced changes of the brain white matter is important for brain neoplasms repeated surgery. We investigated the influence of irradiation on the scattering properties of the white matter using optical coherence tomography (OCT). Healthy Wistar rats undergone the irradiation of the brain right hemisphere. At seven time points from the irradiation procedure (2-14 weeks), an ex vivo OCT study was performed with subsequent calculation of attenuation coefficient values in the corpus callosum followed by immunohistochemical analysis. As a result, we discovered acute and early-delayed changes characterized by the edema of different severity, accompanied by a statistically significant decrease in attenuation coefficient values. In particular, these changes were found at 2 weeks after irradiation in the irradiated hemisphere, while at 6- and 12-week time points they affected both irradiated and contralateral hemisphere. Thus, radiation-induced changes occurring in white matter during the first 3 months after irradiation can be detected by OCT.
Assuntos
Neoplasias Encefálicas , Substância Branca , Ratos , Animais , Substância Branca/diagnóstico por imagem , Ratos Wistar , Tomografia de Coerência Óptica/métodos , Neoplasias Encefálicas/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Encéfalo/efeitos da radiaçãoRESUMO
Eighteen HLA allele sequences were confirmed and extended: 3 HLA-A, 6 HLA-B, 3 HLA-C, 2 HLA-DRB1, and 4 HLA-DQB1 alleles.
Assuntos
Medula Óssea , Antígenos HLA-A , Humanos , Alelos , Frequência do Gene , Antígenos HLA-A/genética , Haplótipos , Cadeias beta de HLA-DQ/genética , Antígenos HLA-B/genética , Cadeias HLA-DRB1/genética , Sistema de Registros , Federação RussaRESUMO
The HLA-B*35:02:21 allele differs from HLA-B*35:02:01:01 in codon 183 in exon 4.
Assuntos
Medula Óssea , Antígenos HLA-B , Humanos , Sequência de Bases , Alelos , Antígenos HLA-B/genética , Voluntários , Doadores de Tecidos , Teste de HistocompatibilidadeRESUMO
Introduction: To improve the quality of brain tumor resections, it is important to differentiate zones with myelinated fibers destruction from tumor tissue and normal white matter. Optical coherence tomography (OCT) is a promising tool for brain tissue visualization and in the present study, we demonstrate the ability of cross-polarization (CP) OCT to detect damaged white matter and differentiate it from normal and tumor tissues. Materials and methods: The study was performed on 215 samples of brain tissue obtained from 57 patients with brain tumors. The analysis of the obtained OCT data included three stages: 1) visual analysis of structural OCT images; 2) quantitative assessment based on attenuation coefficients estimation in co- and cross-polarizations; 3) building of color-coded maps with subsequent visual analysis. The defining characteristics of structural CP OCT images and color-coded maps were determined for each studied tissue type, and then two classification tests were passed by 8 blinded respondents after a training. Results: Visual assessment of structural CP OCT images allows detecting white matter areas with damaged myelinated fibers and differentiate them from normal white matter and tumor tissue. Attenuation coefficients also allow distinguishing all studied brain tissue types, while it was found that damage to myelinated fibers leads to a statistically significant decrease in the values of attenuation coefficients compared to normal white matter. Nevertheless, the use of color-coded optical maps looks more promising as it combines the objectivity of optical coefficient and clarity of the visual assessment, which leads to the increase of the diagnostic accuracy of the method compared to visual analysis of structural OCT images. Conclusions: Alteration of myelinated fibers causes changes in the scattering properties of the white matter, which gets reflected in the nature of the received CP OCT signal. Visual assessment of structural CP OCT images and color-coded maps allows differentiating studied tissue types from each other, while usage of color-coded maps demonstrates higher diagnostic accuracy values in comparison with structural images (F-score = 0.85-0.86 and 0.81, respectively). Thus, the results of the study confirm the potential of using OCT as a neuronavigation tool during resections of brain tumors.
RESUMO
The full-length sequence of HLA-B*13:177, HLA-C*06:02:104 and HLA-C*07:1062N are reported.
Assuntos
Medula Óssea , Antígenos HLA-C , Humanos , Antígenos HLA-C/genética , Alelos , Antígenos HLA-B/genética , Genômica , Doadores de TecidosRESUMO
HLA genes play a major role for successful hematopoietic stem cell transplantation (HSCT). While the success of HSCT depends on a HLA compatibility between donor and patient, finding a suitable donor remains challenging because of the high polymorphic nature of HLA genes. In this study, HLA-A, -B, -C, -DRB1 and -DQB1 alleles were genotyped at the 3-fields resolution level using MiSeq Illumina of 3341 Russian volunteers from the Kirov bone marrow Registry. Full gene of HLA-A, -B and -C, exons 2-4 of HLA-DRB1 and exons 1-5 of HLA-DQB1 were amplified by multiplex long-range polymerase chain reaction (PCR) and each allele was determined by matching the targeted regions and the reference sequence consisting of the IPD-IMGT/HLA Database. A total of 79 alleles of HLA-A, 115 alleles of HLA-B, 67 alleles of HLA-C, 71 alleles of HLA-DRB1 and 34 alleles of HLA-DQB1 were identified. According to common, intermediate and well-documented catalogs, 38 alleles in HLA-A, 69 in HLA-B, 39 in HLA-C, 48 in HLA-DRB1 and 21 in HLA-DQB1 locus were common alleles, and 5, 7, 7, 7, 2 kinds, accordingly, to written above were well-documented alleles. A total of 12 novel alleles including 3 alleles in HLA-A, 3 alleles in HLA-B, 1 allele in HLA-C, 2 alleles in HLA-DRB1 and 3 alleles in HLA-DQB1 loci were found. Six haplotypes with a frequency of more than 1.0% accounted for 13.19% of the total haplotype frequencies. This information on rare and novel alleles found by HLA typing with NGS may be helpful for unrelated HSCT among Russians.
Assuntos
Antígenos HLA-C , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Alelos , Antígenos HLA-C/genética , Cadeias HLA-DRB1/genética , Frequência do Gene , Antígenos HLA-A/genética , Antígenos HLA-B/genética , Haplótipos , Cadeias beta de HLA-DQ/genética , VoluntáriosRESUMO
One nucleotide substitution in pseudoexon 5 of HLA-DQB1*05:02:01:01 results in a novel allele, HLA-DQB1*05:02:01:15.
Assuntos
Medula Óssea , Doadores de Tecidos , Humanos , Alelos , Cadeias beta de HLA-DQ/genéticaRESUMO
The new HLA-B*07:473 allele showed two nonsynonymous nucleotide differences compared with the HLA-B*07:02:01:01 allele in codon 116.
Assuntos
Medula Óssea , Doadores de Tecidos , Humanos , Sequência de Bases , Alelos , Códon , Teste de Histocompatibilidade , Análise de Sequência de DNARESUMO
HLA-DQB1*02:02:23 differs from HLA-DQB1*02:02:01:01 by one synonymous nucleotide substitution at codon -6 in exon 1.
Assuntos
Células-Tronco Hematopoéticas , Humanos , Sequência de Bases , Alelos , Alinhamento de Sequência , Cadeias beta de HLA-DQ/genéticaRESUMO
Complete genomic characterization of the HLA-C*07:1047 allele.
Assuntos
Medula Óssea , Antígenos HLA-C , Humanos , Antígenos HLA-C/genética , Alelos , Transplante de Medula Óssea , Doadores de Tecidos , Federação RussaRESUMO
HLA-C*15:250 differs from HLA-C*15:02:01:01 in codon 120 in exon 3.
Assuntos
Medula Óssea , Antígenos HLA-C , Alelos , Sequência de Bases , Antígenos HLA-C/genética , Teste de Histocompatibilidade , Humanos , Análise de Sequência de DNA , Doadores de Tecidos , VoluntáriosRESUMO
One nucleotide replacement in codon 27 of HLA-DQB1*06:319:01 results in a novel allele, HLA-DQB1*06:319:02.
Assuntos
Células-Tronco Hematopoéticas , Alelos , Sequência de Bases , Cadeias beta de HLA-DQ/genética , Teste de Histocompatibilidade , HumanosRESUMO
Identification of the novel HLA-A*68:99:02 allele that differs from HLA-A*68:99:01 in exon 2 and intron 7.
Assuntos
Antígenos HLA-A , Doadores não Relacionados , Alelos , Éxons/genética , Antígenos HLA-A/genética , Sequenciamento de Nucleotídeos em Larga Escala , HumanosRESUMO
The new allele HLA-DRB1*16:02:10 showed one synonymous nucleotide difference with HLA-DRB1*16:02:01:01 in codon 58.
Assuntos
Medula Óssea , Doadores de Tecidos , Alelos , Sequência de Bases , Cadeias HLA-DRB1/genética , Teste de Histocompatibilidade , HumanosRESUMO
HLA-B*58:01:42 differs from HLA-B*58:01:01:01 in codon 303 in exon 5.
Assuntos
Transplante de Medula Óssea , Medula Óssea , Alelos , Antígenos HLA-B/genética , Teste de Histocompatibilidade , Humanos , Análise de Sequência de DNA , Doadores de Tecidos , VoluntáriosRESUMO
HLA-B*50:04:02 differs from HLA-B*50:04:01 by two silent mutations.
Assuntos
Antígenos HLA-B , Transplante de Células-Tronco Hematopoéticas , Alelos , Sequência de Bases , Antígenos HLA-B/genética , Células-Tronco Hematopoéticas , Teste de Histocompatibilidade , Humanos , Federação Russa , Doadores de TecidosRESUMO
This study aimed to evaluate the long-term low-dose effects of exposure to a mixture of 6 pesticide active substances (diquat, imazamox, imazethapyr, tepraloxydin, bentazone, acifluorfen) and to elucidate if chronic vitamin deficiency can influence their toxicity. Two hundred Wistar rats were divided in 4 groups: a vitamin-sufficiency control group, a vitamin-deficiency control group, a vitamin sufficiency test group and a vitamin-deficiency test group. The test groups were treated with the aforementioned pesticides at doses 100 times lower than the corresponding NOAEL. After 6 months, ten rats from each group were sacrificed and a complete evaluation of blood and urine biochemistry, biomarkers of oxidative stress, xenobiotic detoxification enzymes and lysosomal enzymes and organ histopathology was performed. The pesticides mixture and vitamin deficiency determined an increase in alkaline phosphatase levels and urinary calcium levels, abnormal serum lipid profile, and a decrease of total blood proteins levels, red blood cells, haematocrit and haemoglobin. The combination of the two stressors up-regulated CYP1A1, CYP1A2, CYP2B1 and GST levels. This study provides a new proof for the need to move forward from single chemical testing to a more complex approach to account for the multitude of stressors that can challenge the setting of real safety levels.
Assuntos
Deficiência de Vitaminas/fisiopatologia , Praguicidas/toxicidade , Fosfatase Alcalina/sangue , Fosfatase Alcalina/metabolismo , Animais , Deficiência de Vitaminas/sangue , Peso Corporal/efeitos dos fármacos , Peso Corporal/fisiologia , Cálcio/metabolismo , Cálcio/urina , Colesterol/sangue , Colesterol/metabolismo , Doença Crônica , Lipase/sangue , Lipase/metabolismo , Masculino , Tamanho do Órgão/efeitos dos fármacos , Estresse Oxidativo/fisiologia , Ratos Wistar , Fatores de Tempo , Triglicerídeos/sangue , Triglicerídeos/metabolismoRESUMO
HLA-C*15:227 differs from HLA-C*15:02:01:01 by a single nonsynonymous change (368A â G Tyrosine 99 to Cysteine).
Assuntos
COVID-19/genética , Antígenos HLA-C/genética , Polimorfismo de Nucleotídeo Único , Alelos , COVID-19/imunologia , Bases de Dados Genéticas , Antígenos HLA-C/classificação , Sequenciamento de Nucleotídeos em Larga Escala , Teste de Histocompatibilidade , Humanos , Federação Russa , Análise de Sequência de DNA , Terminologia como AssuntoRESUMO
The new allele HLA-DQB1*05:02:24 showed one synonymous nucleotide difference with HLA-DQB1*05:02:01:01 in codon 140.