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1.
Neotrop. ichthyol ; 20(1): e210153, 2022. tab, graf
Article in English | LILACS, VETINDEX | ID: biblio-1365199

ABSTRACT

Despite several difficulties in chromosomal analyses of small-sized fishes, the cytogenetics of the Lebiasinidae was largely improved in the last years, showing differential patterns in the chromosomal evolution inside the family. In this context, it has been shown that genus Lebiasina preserves its karyotypic macrostructure, composed of 2n = 36 chromosomes, whereas the other genera generally present higher 2n. This study focused on the comparative cytogenetics of three Lebiasina species, one of them analyzed here for the first time, using conventional and molecular procedures. The results reinforced the differentiated evolutionary path of the genus Lebiasina while, at the same time, highlighted the genomic particularities that have accompanied the evolution of each species. In this sense, the repetitive components of the genome played a significant role in the differentiation of each species. It is also notable that L. minuta and L. melanoguttata, the two species that occur exclusively in the Brazilian territory, show greater chromosomal similarities to each other than to the trans-Andean sister species, L. bimaculata.(AU)


Apesar das dificuldades encontradas em se realizar análises cromossômicas em peixes de pequeno porte, os estudos citogenéticos em Lebiasinidae vêm crescendo nos últimos anos e demonstrando padrões diferenciados na evolução cromossômica entre os membros da família. Nesse contexto, o gênero Lebiasina tem mostrado preservar sua macroestrutura cariotípica, composta por 2n = 36 cromossomos, enquanto os demais gêneros geralmente apresentam 2n maiores. Este estudo tem como foco a citogenética comparativa de três espécies de Lebiasina, sendo uma delas analisada pela primeira vez aqui, através do emprego de técnicas convencionais e moleculares. Os resultados obtidos reforçam a trajetória evolutiva diferenciada do gênero Lebiasina, ao mesmo tempo em que evidenciam as particularidades genômicas que acompanham a evolução de cada uma das espécies. Neste contexto, os componentes repetitivos do genoma tiveram um papel importante na caracterização particular de cada uma das espécies. Também, é notável que L. minuta e L. melanoguttata, duas espécies que ocorrem exclusivamente no território brasileiro, apresentam maior proximidade citogenética entre elas do que com a espécie irmã transandina, L. bimaculata.(AU)


Subject(s)
Animals , Chromosomes , Genome , Cytogenetics , Characiformes/genetics , Hybridization, Genetic
3.
Rev. cuba. hematol. inmunol. hemoter ; 37(3): e1455, 2021. tab
Article in Spanish | LILACS, CUMED | ID: biblio-1341398

ABSTRACT

Introducción: La leucemia mieloide aguda es una enfermedad clonal, reconocida como una de las hemopatías malignas más heterogénea en la que determinados biomarcadores clínicos, inmunológicos, citogenéticos y moleculares influyen en la respuesta de los pacientes al tratamiento. Objetivo: Describir la influencia pronóstico de biomarcadores inmunológicos, citogenéticos y moleculares en la respuesta terapéutica en los pacientes adultos menores de 60 años con leucemia mieloide aguda. Métodos: Se realizó una revisión exhaustiva del tema en bases de datos como: Pubmed, Scielo, ScienceDirect, Medline y el motor de búsqueda Google académico; se utilizaron como referencia artículos actualizados publicados principalmente en los últimos cinco años. Análisis y síntesis de la información: La heterogeneidad inmunológica, citogenética y molecular de los pacientes adultos menores de 60 años con leucemia mieloide aguda se relaciona con la variabilidad en la respuesta al tratamiento que tienen los enfermos y repercute en la supervivencia global y libre de enfermedad. Conclusión: Sobre la base a características inmunológicas, citogenéticas y moleculares es posible establecer el pronóstico de los pacientes con leucemia mieloide aguda, lo cual permite seleccionar la terapéutica adecuada para disminuir en lo posible las complicaciones, las recaídas y aumentar la supervivencia global(AU)


Introduction: Acute myeloid leukemia is a clonal disease, recognized as one of the most heterogeneous malignant hemopathy in which certain clinical, immunological, cytogenetic and molecular biomarkers influence the response of patients to treatment. Objective: Describe the prognostic influence of immunological, cytogenetic and molecular biomarkers on the therapeutic response in adult patients under 60 years of age with acute myeloid leukemia. Methods: An exhaustive review was conducted about the topic in the databases as Pubmed, Scielo, ScienceDirect, Medline and Scholar Google, for which papers mainly published in the last five years were used as reference. Analysis and synthesis of the information: The immunological, cytogenetic and molecular heterogeneity of adult patients under 60 years of age with acute myeloid leukemia is related to the variability in the response to treatment that patients have and affects their overall and disease-free survival. Conclusions: Based on the immunological, cytogenetic and molecular characteristics, it is possible to establish the prognosis of patients with acute myeloid leukemia, which allows selecting the appropriate therapy to reduce complications, relapses as much as possible and increase overall survival(AU)


Subject(s)
Humans , Adult , Biomarkers/analysis , Leukemia, Myeloid, Acute , Disease-Free Survival , Cytogenetics , Prognosis
4.
Article in Spanish | LILACS, CUMED | ID: biblio-1341396

ABSTRACT

Introducción: La leucemia promielocítica es un subtipo de leucemia mieloide aguda que se presenta frecuentemente con una coagulopatía potencialmente mortal, por lo que representa una emergencia médica. En la gran mayoría de los pacientes ocurre la t(15;17)(q24;q21) que genera el gen aberrante PML-RARA. Mediante diferentes técnicas de citogenética y de la biología molecular que detectan dichas aberraciones es posible diagnosticar la entidad de manera inequívoca y estudiar la enfermedad mínima residual. Objetivo: Describir, comparar y analizar las técnicas de citogenética y de la biología molecular que son útiles para el diagnóstico y el seguimiento del paciente con leucemia promielocítica. Así como señalar sus ventajas y limitaciones. Métodos: Se realizó revisión de la bibliografía científica de los últimos cinco años relacionada con el tema a través de PUBMED. Se realizó análisis y resumen de la información. Análisis y síntesis de la información: Se describen dos técnicas de citogenética y tres moleculares basadas en la aplicación de la reacción en cadena de la polimerasa. Se comparan y analizan sus ventajas y limitaciones. Conclusiones: Algunas de estas técnicas son útiles únicamente para el diagnóstico, mientras que otras, por su alta sensibilidad, se recomiendan para el seguimiento del paciente con leucemia promielocítica(AU)


Introduction: Promyelocytic leukemia (PML) is a subtype of acute myeloid leukemia that frequently presents with a potentially fatal coagulopathy, therefore it represents a medical emergency. In the vast majority of patients, the t (15; 17) (q24; q21) occurs, which generates the aberrant gene PML-RARA. Using different cytogenetic and molecular biology techniques that detect these aberrations, it is possible to unequivocally diagnose the entity and study minimal residual disease. Objective: To describe, compare and analyze cytogenetics and molecular biology techniques that are useful for diagnosis and follow-up of the patient with Promyelocytic leukemia. As well as pointing out its advantages and limitations. Methods: A review of the scientific bibliography of the last five years related to the subject was carried out through PUBMED. An analysis and summary of the information was made. Analysis and synthesis of the information: Two cytogenetic and three molecular techniques are described based on the application of the polymerase chain reaction. Its advantages and limitations are compared and analyzed. Conclusions: Some of these techniques are only useful for diagnosis, while others, due to their high sensitivity, are recommended for monitoring the patient with Promyelocytic leukemia(AU)


Subject(s)
Humans , Leukemia, Promyelocytic, Acute/diagnosis , Polymerase Chain Reaction/methods , Aftercare , Cytogenetics/methods , Molecular Biology
5.
Oncol. (Guayaquil) ; 31(2): 141-154, 31 de agosto 2021.
Article in Spanish | LILACS | ID: biblio-1284452

ABSTRACT

Introducción: La leucemia linfoblástica aguda (LLA) es la neoplasia maligna de mayor frecuencia en la infancia; advertir sus alteraciones moleculares y citogenéticas permite establecer el riesgo, el pronóstico asociado y además plantear esquemas terapéuticos apropiados; el objetivo de este estudio es conocer la prevalencia de estas alteraciones en nuestra población. Metodología: Estudio de tipo retrospectivo y transversal, basado en los registros de las alteraciones moleculares y citogenéticas de los pacientes pediátricos diagnosticados con leucemia linfoblástica aguda durante el periodo comprendido entre enero 2014 a diciembre de 2018, en el Hospital del Instituto Oncológico Nacional "Dr. Juan Tanca Marengo". Resultados: Se incluyeron 338 pacientes, de los cuales el principal grupo etario lo constituyo el de 0 a 4 años; el inmunofenotipo más observado fue el B-común. En el 24.56% de los casos se detectó altercaciones estructurales, principalmente por estudios de biología molecular; siendo la más común la translocación t(12;21). Se obtuvieron resultados por citogenética en 167 pacientes, en cuales la principal alteración numérica correspondió a la hiperdiploidía de entre 47 a 51 cromosomas. Conclusión: Los avances en la caracterización molecular y citogenética de la LLA, permiten mejorar la estratificación de su riesgo; y establecer estrategias terapéuticas que permitan una mejoría en la sobrevida.


Introduction: Acute lymphoblastic leukemia (ALL) is the most frequent malignant neoplasm in childhood; Noting its molecular and cytogenetic alterations allows to establish the risk, the associat-ed prognosis and also to propose appropriate therapeutic schemes; The objective of this study is to know the prevalence of these alterations in our population. Methods: Retrospective and cross-sectional study, based on the records of molecular and cytogenetic alterations of pediatric patients diagnosed with acute lymphoblastic leukemia during the period from January 2014 to December 2018, at the National Oncological Institute Hospital "Dr. Juan Tanca Marengo". Results: 338 patients were included, of which the main age group was made up of 0 to 4 years; the most observed immunophenotype was B-common. In 24.56% of the cases, structural alterations were detected, mainly by molecular biology studies; the most common being the t (12; 21) translocation. Cytogenetics results were obtained in 167 patients, in which the main numerical alteration corresponded to hyperdiploidy of between 47 and 51 chromosomes. Conclusions: Advances in the molecular and cytogenetic characterization of ALL make it possible to improve the stratification of its risk; and establish therapeutic strategies that achieve an improvement in survival.


Introdução: A leucemia linfoblástica aguda (LLA) é a neoplasia maligna mais comum na infância; Observar suas alterações moleculares e citogenéticas permite estabelecer o risco, o prognóstico associado e também propor esquemas terapêuticos adequados; O objetivo deste estudo é conhecer a prevalência dessas alterações em nossa população. Metodologia: Estudo retrospectivo e transversal, baseado nos registros de alterações moleculares e citogenéticas de pacientes pediátricos com diagnóstico de leucemia linfoblástica aguda no período de janeiro de 2014 a dezembro de 2018, no Hospital del Instituto Oncológico Nacional "Dr. Juan Tanca Marengo ". Resultados: Foram incluídos 338 pacientes, cuja faixa etária principal era de 0 a 4 anos; o imunofenótipo mais observado foi B-comum. Em 24,56% dos casos, foram detectadas alterações estruturais, principalmente por estudos de biologia molecular; o mais comum é a translocação t (12; 21). Os resultados citogenéticos foram obtidos em 167 pacientes, nos quais a principal alteração numérica correspondeu à hiperdiploidia entre 47 e 51 cromossomos. Conclusão: Os avanços na caracterização molecular e citogenética da LLA permitiram melhorar a estratificação de risco; e estabelecer estratégias terapêuticas que permitam uma melhora na sobrevida.


Subject(s)
Humans , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Leukemia, Biphenotypic, Acute , Precursor T-Cell Lymphoblastic Leukemia-Lymphoma , Translocation, Genetic , Child , Cytogenetics
6.
Article in Spanish | LILACS, CUMED | ID: biblio-1289427

ABSTRACT

Introducción: La leucemia linfoide crónica es un trastorno linfoproliferativo caracterizado por la acumulación de linfocitos pequeños de aspecto maduro en sangre periférica, médula ósea y tejidos linfoides con un período de vida prolongado. Presenta una gran variabilidad clínica y genética. Objetivo: Describir los aspectos citogenéticos y moleculares de la leucemia linfoide crónica. Métodos: Se realizó revisión de la literatura en inglés y español, a través del sitio web PubMed y el motor de búsqueda Google académico, de artículos publicados en los últimos 5 años. Se hizo un análisis y resumen de la bibliografía revisada. Desarrollo: En la leucemia linfoide crónica están presentes alteraciones citogenéticas frecuentes como la deleción de los cromosomas 13q, 11q y 17p, así como la trisomía 12, que unido al conocimiento del estado mutacional del gen de la región variable de la cadena pesada de la inmunoglobulina, y otras mutaciones somáticas en diferentes genes, así como a variables clínicas y de laboratorio permiten la estratificación pronóstica de los pacientes. Conclusiones: El diagnóstico a través de los estudios citogenéticos convencionales estimulados con mitógenos, la hibridación in situ por fluorescencia y la secuenciación génica permite una mayor comprensión de la biología de la enfermedad, así como tomar decisiones terapéuticas más personalizadas(AU)


Introduction: Chronic B lymphoid leukemia is a lymphoproliferative disorder characterized by the accumulation of small, mature-looking lymphocytes in peripheral blood, bone marrow and lymphoid tissues with a long life span. It has great clinical and genetic variability. Objective: To describe the cytogenetic and molecular aspects of the disease. Methods: A review of the literature in English and in Spanish was carried out, in the PubMed website and using the search engine of Google Scholar, for articles published in the last five years. We performed analysis and summary of the reviewed bibliography. Development: In chronic lymphoid leukemia, frequent cytogenetic alterations are present such as deletion of chromosomes 13q, 11q and 17p, as well as trisomy 12, which together with the knowledge of the mutational status of the gene for the variable region of the immunoglobulin heavy chain and other somatic mutations in different genes, as well as clinical and laboratory variables allows prognostic stratification of patients. Conclusions: Diagnosis through conventional mitogen-stimulated cytogenetic studies, fluorescence in situ hybridization and gene sequencing allow a better understanding of the biology of the disease, as well as making more personalized therapeutic decisions(AU)


Subject(s)
Biology , Genetic Therapy , Leukemia, Lymphoid/genetics , In Situ Hybridization , Cytogenetics , Lymphoproliferative Disorders , Mutation
7.
Autops. Case Rep ; 11: e2021274, 2021. tab, graf
Article in English | LILACS | ID: biblio-1249018

ABSTRACT

Background Myelodysplastic syndromes (MDS) mainly occur in the elderly but can rarely affect younger individuals too. The correct diagnosis relies on careful morphologic evaluation, cytogenetic/molecular results, and excluding reactive conditions mimicking MDS. We present the clinical, pathologic, cytogenetic, and molecular features of a case of MDS with excess blasts-2 (MDS-EB-2) in a 30-year-old male who was found to have pancytopenia during his hospitalization for coronavirus disease 2019 (COVID-19) and discuss the diagnostic challenges of MDS in patients with COVID-19. Case presentation A 30-year-old man presented to an outside hospital with fever, chills, weakness, coughing spells, dizziness and shortness of breath and was diagnosed with bilateral pneumonia due to COVID-19. At the outside hospital, he was found to be pancytopenic, and a subsequent bone marrow aspiration and biopsy raised concern for a COVID-19 induced hemophagocytic lymphohistiocytosis. In addition, MDS could not be ruled out. The patient was thus referred to our institute for further management. The patient's peripheral blood showed pancytopenia with occasional dysplastic neutrophils and a few teardrop cells. Given the diagnostic uncertainty, a bone marrow aspiration and a biopsy were repeated revealing a hypercellular bone marrow with erythroid hyperplasia, megakaryocytic hyperplasia, trilineage dysplasia, increased blasts (13%), many ring sideroblasts, and mild to moderate myelofibrosis, consistent with MDS-EB-2. Chromosomal analysis revealed isochromosome 14. Next generation sequencing demonstrated SF3B1 K700E mutation. Discussion and conclusion The diagnosis of MDS can be challenging, particularly in young patients. Cytopenia and myelodysplastic features have been reported in COVID-19 patients, making the diagnosis of MDS more elusive. A careful pathologic examination of the bone marrow with ancillary studies including flow cytometry, immunohistochemistry, and cytogenetic and molecular studies in combination with a thorough clinical evaluation, leads to the accurate diagnosis.


Subject(s)
Humans , Male , Adult , Myelodysplastic Syndromes/pathology , Bone Marrow , Cytogenetics , COVID-19
8.
Journal of Experimental Hematology ; (6): 1757-1762, 2021.
Article in Chinese | WPRIM | ID: wpr-922330

ABSTRACT

OBJECTIVE@#To explore the clinical and cytogenetic characteristics of acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) based on morphology define.@*METHODS@#A total of 180 newly diagnosed acute myeloid leukemia (AML) patients were enrolled and retrospectively analyzed, and marrow cell morphology of 126 patients were re-evaluated. The clinical and cytogenetic characteristics, including ages, sex, WBC count, HGB level, PLT count, blasts percentage, abnormal karyotype detection rate of the patients in AML with multilineage dysplasia (AML-MRC-1), secondary AML from myelodysplastic/ myeloproliferative neoplasms (MDS/MPN) (AML-MRC-2), and AML not otherwise specified (AML-NOS) groups were investigated.@*RESULTS@#There was no significant differences between the patients in three groups in terms of sex, age and platelet count (P=0.898, P=0.365, P=0.853), but AML-MRC-2 group (73.2%) was higher than AML-MRC-1 (60.0%) and AML-NOS (56.4%) in the percentages of patients over 60 years old (P=0.228); there were statistically significant differences on WBC count, HGB level, and blasts percentage (P=0.000, P=0.022, P=0.000, AML-MRC-2

Subject(s)
Cytogenetic Analysis , Cytogenetics , Humans , Leukemia, Myeloid, Acute/genetics , Middle Aged , Myelodysplastic Syndromes/genetics , Retrospective Studies
9.
Neotrop. ichthyol ; 19(1): e200103, 2021. tab, mapas, ilus
Article in English | LILACS, VETINDEX | ID: biblio-1154963

ABSTRACT

Parodontidae is a relatively small group of Neotropical characiform fishes consisting of three genera (Apareiodon, Parodon, and Saccodon) with 32 valid species. A vast cytogenetic literature is available on Apareiodon and Parodon, but to date, there is no cytogenetic data about Saccodon, a genus that contains only three species with a trans-Andean distribution. In the present study the karyotype of S. wagneri was described, based on both conventional (Giemsa staining, Ag-NOR, C-bands) and molecular (repetitive DNA mapping by fluorescent in situ hybridization) methods. A diploid chromosome number of 2n = 54 was observed in both sexes, and the presence of heteromorphic sex chromosomes of the ZZ/ZW type was detected. The W chromosome has a terminal heterochromatin band that occupies approximately half of the long arm, being this band approximately half the size of the Z chromosome. The FISH assay showed a synteny of the 18S-rDNA and 5S-rDNA genes in the chromosome pair 14, and the absence of interstitial telomeric sites. Our data reinforce the hypothesis of a conservative karyotype structure in Parodontidae and suggest an ancient origin of the sex chromosomes in the fishes of this family.(AU)


Parodontidae é um grupo relativamente pequeno de peixes caraciformes neotropicais que consiste em três gêneros (Apareiodon, Parodon e Saccodon) com 32 espécies válidas. Uma vasta literatura citogenética está disponível sobre Apareiodon e Parodon, mas até o momento não há dados citogenéticos sobre Saccodon, um gênero que contém apenas três espécies com distribuição transandina. No presente estudo foi descrito o cariótipo de S. wagneri, baseado em métodos convencionais (coloração de Giemsa, Ag-NOR, bandas C) e moleculares (mapeamento de DNA repetitivo por hibridização fluorescente in situ). Um número cromossômico diplóide de 2n = 54 foi observado, e a presença de cromossomos sexuais heteromórficos do tipo ZZ/ZW foi revelada. O cromossomo W possui uma banda terminal heterocromática que ocupa aproximadamente metade do braço longo, sendo esta banda aproximadamente a metade do tamanho do cromossomo Z. O ensaio FISH mostrou uma sintenia dos genes 18S-rDNA e 5S-rDNA no par de cromossomos 14, e a ausência de sítios teloméricos intersticiais. Nossos dados reforçam a hipótese de uma estrutura cariotípica conservadora em Parodontidae e sugerem uma origem ancestral dos cromossomos sexuais nos peixes desta família.(AU)


Subject(s)
Animals , Sex Chromosomes , Heterochromatin , Cytogenetics , Characiformes/genetics , Gender Identity
10.
Neotrop. ichthyol ; 19(2): e200045, 2021. graf
Article in English | LILACS, VETINDEX | ID: biblio-1279481

ABSTRACT

Characidium sp. aff. C. vidali is a species found in coastal streams in southeastern Brazil, which has karyotypic explanatory elements as the occurrence of microstructural variations, keeping the chromosomal macrostructure of the genus. The objective of this study was to apply cytomolecular tools in the chromosomes of Characidium sp. aff. C. vidali to identify characteristics in their karyotype contributing to cytogenetic definition of this species, adding information about the evolution of the chromosomal structure of the group. The species showed 2n = 50 chromosomes and from 1 to 4 additional B microchromosomes. FISH technique showed histone H3 and H4 genes in the short arm of pair 10, and microsatellites (CA)15, (CG)15, (GA)15 and (TTA)10 clustered in the subtelomeric portions of all A chromosomes, with total accumulation by supernumerary. The telomeric probe marked terminal regions of all chromosomes, in addition to the interstitial portion of four pairs, called ITS sites, with these markings being duplicated in two pairs, hence the double-ITS classification. C-banding revealed that supernumerary chromosomes are completely heterochromatic, that ITS sites are C-banding positive, but double-ITS sites are C-banding negative. So, throughout the evolution to Characidium, genomic events are occurring and restructuring chromosomes in populations.(AU)


Characidium sp. aff. C. vidali é uma espécie encontrada em riachos costeiros do sudeste do Brasil, que apresenta elementos cariotípicos elucidativos quanto à ocorrência de variações microestruturais, conservando a macroestrutura cromossômica do gênero. O objetivo deste estudo foi aplicar ferramentas citomoleculares para identificar características no cariótipo de Characidium sp. aff. C. vidali, que contribuam para a definição citogenética desta espécie, agregando informações quanto à evolução da estruturação cromossômica do grupo. A espécie apresentou 2n = 50 cromossomos, além de 1 a 4 microcromossomos B por célula. A FISH mostrou os genes de histona H3 e H4 sintênicos no braço curto do par 10, e os microssatélites (CA)15, (CG)15, (GA)15 e (TTA)10 clusterizados nas porções subteloméricas de todos os cromossomos do complemento A, com grande acúmulo nos supranumerários. A sonda telomérica identificou marcações terminais em todos os cromossomos, além de quatro pares marcados intersticialmente, chamados de sítios ITS, e dois pares com duas marcações intersticiais, chamados de double-ITS. O bandamento C revelou que os cromossomos supranumerários são completamente heterocromáticos, que os sítios ITS são banda C positivos, mas os sítios double-ITS são banda C negativos. Então, ao longo da evolução de Characidium, eventos genômicos estão ocorrendo e reestruturando cromossomos nas populações.(AU)


Subject(s)
Animals , Biomarkers/analysis , Cytogenetics , Characiformes/genetics , DNA Probes
11.
Neotrop. ichthyol ; 19(2): e200110, 2021. tab, graf
Article in English | LILACS, VETINDEX | ID: biblio-1279480

ABSTRACT

The Hoplias malabaricus group encompasses six valid species and still is believed to harbors cryptic diversity. In this work, an integrative approach including morphological, DNA barcoding, and cytogenetic considerations was conducted to characterize a population of H. malabaricus from the Amazon basin that was recently allocated in the same mitochondrial lineage with H. misionera, a species originally described from La Plata basin. The DNA barcoding analysis revealed that the Amazon population nested together with H. misionera specimens from the La Plata basin (BIN AAB1732) in the same cluster. The intragroup distance (0.5%) was 12 times lower than the nearest neighbor (6%) distance. The morphometric analysis demonstrated slightly variation between Amazon and La Plata populations, being the former composed by larger specimens. Further morphological data supported the molecular evidence of H. misionera inhabiting Amazon basin. The karyotype characterization of H. misionera in the Amazon population showed 2n=40 and karyotypic formulae 20m+20sm, that added to C-banding, Ag-NOR and 18S results are suggestive of the similarity to karyomorph C of H. malabaricus. This work reveals the first record of H. misionera outside of La Plata basin and expands the species distribution for 2500 km northward until the Marajó Island, estuary of Amazonas River.(AU)


O grupo Hoplias malabaricus compreende seis espécies válidas e ainda acredita-se que abriga diversidade críptica. Neste trabalho, uma abordagem integrativa incluindo considerações morfológicas, de DNA barcoding e de citogenética foi conduzida para caracterizar uma população de H. malabaricus da bacia amazônica que foi recentemente alocada na mesma linhagem mitocondrial de H. misionera, uma espécie originalmente descrita para a bacia La Plata. A análise molecular por DNA barcoding revelou que essa população amazônica forma um clado monofilético com espécimes de H. misionera provenientes da bacia La Plata (BIN AAB1732). A distância genética intragrupo (0,5%) é 12 vezes menor do que para o vizinho mais próximo (6%). A comparação morfométrica demonstrou pequena variação entre as populações amazônica e La Plata, sendo os primeiros ligeiramente maiores. Entretanto, os dados morfológicos corroboram com evidência molecular e confirmam a ocorrência de H. misionera na bacia amazônica. A caracterização cariotípica de H. misionera na população amazônica apresentou 2n=40 e fórmula cariotípica 20m+20sm, que aliada aos resultados de banda C, Ag-NOR e 18S sugerem que seja similar ao cariomorfo C de H. malabaricus. Esse trabalho revela o primeiro registro de H. misionera fora da bacia La Plata e estende a distribuição da espécie por mais de 2500 km ao Norte, até a Ilha do Marajó, estuário do rio Amazonas.(AU)


Subject(s)
Animals , Records , Cytogenetics , Characiformes/anatomy & histology , Characiformes/genetics , Amazonian Ecosystem
12.
Neotrop. ichthyol ; 19(2): e210007, 2021. tab, graf
Article in English | LILACS, VETINDEX | ID: biblio-1279475

ABSTRACT

Some pelagic and usually large sized fishes are preferential targets for sport and commercial fishing. Despite their economic importance, cytogenetic data on their evolutionary processes and management are very deficient, especially due to logistical difficulties. Here, information for two of such charismatic species, the tarpon, Megalops atlanticus (Elopiformes: Megalopidae), and the sailfish, Istiophorus platypterus (Istiophoriformes: Istiophoridae), both with a wide Atlantic distribution, were provided. Cytogenetic data were obtained using conventional methods (Giemsa staining, Ag-NORs technique, and C-banding), base-specific fluorochrome staining and fluorescence in situ hybridization (FISH) with rDNA probes. Megalops atlanticus has 2n = 50 chromosomes, all acrocentric ones (NF = 50), while Istiophorus platypterus has 2n = 48 chromosomes, 2m + 2st + 44a (NF = 52). Megalops atlanticus populations from the South Atlantic and Caribbean share identical karyotypic patterns, likely associated with gene flow between them. In turn, I. platypterus presents karyotype similarities with phylogenetically close groups, such as Carangidae. The chromosomal characteristics of these species highlight their independent evolutionary paths. Additionally, the current data contribute to knowledge of new aspects of pelagic fish fauna and will support further comparative studies with congeneric species, clarifying evolutionary karyotype trends of these fish groups.(AU)


Alguns peixes pelágicos de grande porte são alvos preferenciais para a pesca esportiva e comercial. Apesar de sua importância econômica, os dados citogenéticos sobre seus processos evolutivos e de manejo são muito deficientes, principalmente devido às dificuldades logísticas. Aqui são apresentadas informações cromossômicas de duas espécies carismáticas, o tarpão, Megalops atlanticus (Elopiformes: Megalopidae), e o agulhão-vela, Istiophorus platypterus (Istiophoriformes: Istiophoridae), ambos com ampla distribuição no oceano Atlântico. Os dados citogenéticos foram obtidos usando métodos convencionais (coloração em Giemsa, técnica de Ag-NORs e bandamento C), coloração com fluorocromos específicos e hibridização fluorescente in situ (FISH) com sondas DNAr. Megalops atlanticus possui 2n = 50 cromossomos, todos acrocêntricos (NF = 50), enquanto Istiophorus platypterus possui 2n = 48 cromossomos, 2m + 2st + 44a (NF = 52). Populações de M. atlanticus do Atlântico Sul e Caribe compartilham padrões cariotípicos idênticos, provavelmente associados ao fluxo gênico entre regiões. Por sua vez, I. platypterus apresenta semelhanças cariotípicas micro e macroestruturais com grupos filogeneticamente próximos, como Carangidae. As características cromossômicas destas espécies destacam seus caminhos evolutivos independentes. Adicionalmente, os dados apresentados contribuem com novos aspectos da fauna pelágica e apoiarão futuros estudos comparativos com espécies congenéricas, esclarecendo as tendências evolutivas do cariótipo destes grupos de peixes.(AU)


Subject(s)
Animals , DNA, Ribosomal , Cytogenetics , Gene Flow , Fisheries , Fishes/genetics
13.
Neotrop. ichthyol ; 19(4): e210056, 2021. tab, ilus
Article in English | LILACS, VETINDEX | ID: biblio-1351150

ABSTRACT

Moenkhausia is a highly specious genus among the Characidae, composed of 96 valid species. Only twelve species have a known karyotype. Thus, here are presented the first cytogenetic data of two allopatric populations of Moenkhausia bonita and one of M. forestii, both belonging to the upper Paraná River basin (PR) with discussion on the evolutionary and cytotaxonomic aspects of the genus. The two species presented 2n = 50 chromosomes but different karyotype formulas and occurrence of 1-2 B chromosomes. These elements are small metacentrics in M. bonita and small acrocentrics in M. forestii. In both species, B chromosomes were euchromatic. Ag-NOR sites were found in pair 3 (metacentric), coinciding with fluorescent in situ hybridization (FISH) by the 18S rDNA probe in both species. However, the species differed in terms of the number and position of 5S rDNA sites. Heterochromatic blocks, mapped in M. bonita showed the least amount of heterochromatin in the terminal and pericentromeric regions, while the M. forestii karyotype revealed a greater amount of interstitial heterochromatic blocks. The karyotype distinctions between the two species, including the morphology of B chromosomes, may contribute as a reference in the taxonomic studies in this group.(AU)


Moenkhausia é um gênero altamente especioso dentre os Characidae, composto por 96 espécies válidas, mas apenas doze espécies têm seus cariótipos conhecidos. Portanto, são apresentados aqui os primeiros dados citogenéticos de duas populações alopátricas de Moenkhausia bonita e uma de M. forestii, ambas pertencentes à bacia do alto rio Paraná (PR), com uma ampla discussão sobre os aspectos evolutivos e citotaxonômicos do gênero. As duas espécies apresentaram 2n = 50 cromossomos, mas diferentes fórmulas cariotípicas e ocorrência de 1-2 cromossomos B. Esses elementos são pequenos metacêntricos em M. bonita e acrocêntricos pequenos em M. forestii. Em ambas as espécies, os cromossomos B apresentaram-se eucromáticos. Sítios Ag-NOR foram encontrados no par 3 (metacêntrico), coincidindo com a hibridização fluorescente in situ (FISH) pela sonda 18S rDNA em ambas as espécies. No entanto, as espécies diferiram em termos de número e posição dos sítios de 5S rDNA. Blocos heterocromáticos mapeados em M. bonita revelaram pequena quantidade de heterocromatina nas regiões terminal e pericentromérica, enquanto o cariótipo de M. forestii revelou uma maior quantidade de blocos heterocromáticos intersticiais. As distinções cariotípicas entre as duas espécies, incluindo a morfologia dos cromossomos B, podem contribuir como uma referência em estudos taxonômicos neste grupo.(AU)


Subject(s)
Animals , Heterochromatin , Chromosomes , Cytogenetics , Characidae , In Situ Hybridization, Fluorescence
14.
Acta Medica Philippina ; : 117-125, 2021.
Article in English | WPRIM | ID: wpr-877178

ABSTRACT

@#Background. Accidental radiation exposure can occur anytime. Biodosimeters help in quantifying the absorbed dose of individuals who are not equipped with personal dosimeters during radiation exposure. The dicentric assay can quantify radiation damage by correlating radiation dose exposure with the frequency of dicentric chromosomes in the peripheral lymphocytes extracted from exposed individuals. Objective. The study aims to present the interim results of the reference dose-response curve for a Philippine radiotherapy facility constructed using a 6MV linear accelerator (ClinacX, Varian). Methods. Samples of peripheral blood from healthy volunteers were irradiated in a customized water phantom of doses 0.10 to 5.0 Gray using a linear accelerator. The irradiated samples were cultured and analyzed following the International Atomic Energy Agency Cytogenetic Dosimetry Protocol (2011) with modifications. Linear-quadratic model curve fitting and further statistical analysis were done using CABAS (Chromosome Aberration Calculation Software Version 2.0) and Dose Estimate (Version 5.2). Interim results of the samples were used to generate these curves. Results. The dose-response curve generated from the preliminary results were comparable to published dose response curves from international cytogenetic laboratories. Conclusion. The generated dose-response calibration curve will be useful for medical triage of the public and radiologic staff accidentally exposed to radiation during medical procedures or in the event of nuclear accidents.


Subject(s)
Cytogenetics , Biological Assay , Chromosome Disorders , Cytogenetic Analysis , Radiation
15.
Article in Chinese | WPRIM | ID: wpr-879567

ABSTRACT

OBJECTIVE@#To delineate the origin and structure of 3 cases of small supernumerary marker chromosomes (sSMCs) through cytogenetic and molecular genetic analysis.@*METHODS@#Conventional G, C and N banding were carried out to analyze the chromosomal karyotypes. Chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) were used to delineate the origin and structure of the sSMCs.@*RESULTS@#In case 1, chromosomal karyotype of peripheral blood sample was 47,XY,+mar. This de novo sSMC was a dual-satellited dicentric inverted duplicated marker chromosome, for which CMA yielded a normal result. It was predicted to not increase the risk of offspring. In case 2, the fetal chromosomal karyotype was 47,XY,+mar[17]/46,XY[33]. Chromosomal banding suggested that this de novo segment contained euchromatin, and the result of CMA was arr[hg19] 5p12q11.1(45 694 574-49 475 697) × 3. FISH showed the sSMC to be a fragment derived from 5p12 containing the HCN1 gene. Case 3 was found to have a fetal karyotype of 45,XY,-13[25]/46,XY,r(13)[18]/46,XY,-13,+mar[7]. Both parents had refused further examination.@*CONCLUSION@#Conventional chromosomal banding combined with molecular methods can delineate the origin and structure of the sSMCs, which can help with prediction of their pathogenicity and facilitate genetic counseling.


Subject(s)
Chromosome Banding , Chromosome Disorders , Cytogenetics , Humans , In Situ Hybridization, Fluorescence , Karyotyping
16.
Rev. cuba. hematol. inmunol. hemoter ; 36(3): e1243, jul.-set. 2020.
Article in Spanish | LILACS, CUMED | ID: biblio-1156443

ABSTRACT

Las neoplasias hematológicas se caracterizan por un gran número y complejidad de alteraciones genéticas, desde la formación de genes de fusión a partir de translocaciones e inversiones cromosómicas hasta mutaciones génicas y alteraciones epigenéticas que han permitido la identificación de nuevos oncogenes y genes supresores de tumores responsables de su etiología. Al abordar el estudio genético de las leucemias se utilizan múltiples técnicas como la citogenética convencional, citogenética molecular (hibridaciónin situ por fluorescencia (FISH), esta última con una mayor sensibilidad, especificidad y rapidez que permiten el diagnóstico, la estratificación pronóstica y seguimiento de la enfermedad. Las técnicas anteriores se integran con técnicas de biología molecular, secuenciación génica, entre otras, que permiten el hallazgo de nuevos marcadores genéticos con una mejor caracterización de las hemopatías malignas y la posibilidad del desarrollo de nuevos fármacos específicos que actúen sobre la diana molecular. El objetivo fue revisar la utilidad de la citogenética y la secuenciación génica en el estudio de la leucemia mieloide aguda y la leucemia linfocítica crónica. Ante las ventajas, desventajas y limitaciones de estas técnicas genéticas es necesario utilizarlas de forma complementaria y nunca excluyente(AU)


Hematological neoplasms are characterized by a large number and great complexity of genetic disorders, from the formation of fusion genes after chromosomal translocations and inversions to gene mutation and epigenetic disorders that have permitted the identification of new oncogenes and tumor-suppressing genes responsible for their etiology. When addressing the genetic study of leukemias, multiple techniques are used, such as conventional cytogenetics, molecular cytogenetics, and fluorescence in situ hybridization (FISH), the latter having the higher degree of sensitivity, specificity and speed, which allow diagnosis, prognostic stratification and follow-up of the disease. The previous techniques are integrated with molecular biology techniques, gene sequencing, among others, which allow discovery of new genetic markers with better characterization of malignant hemopathies and the possibility of developing new specific drugs against the molecular target. The objective was to review the usefulness of cytogenetics and gene sequencing in the study of acute myeloid leukemia and chronic lymphocytic leukemia. Given the advantages, disadvantages and limitations of these genetic techniques, it is necessary to use them in as complementary but never exclusive management ways(AU)


Subject(s)
Humans , Oncogenes , Genetic Markers , In Situ Hybridization, Fluorescence/methods , Hematologic Neoplasms/genetics , Cytogenetics , Epigenomics , Genetic Diseases, Inborn , Molecular Biology , Whole Genome Sequencing/methods
17.
Biosci. j. (Online) ; 36(3): 1018-1023, 01-05-2020. ilus, tab
Article in English | LILACS | ID: biblio-1147194

ABSTRACT

Ameivula is as a new genus of Teiidae family that emerged after extensive revision of species that comprised the former complex of species called Cnemidophorus group. Its species has a wide distribution from the northeast of Brazil to northern Argentina. Cytogenetic studies in the Teiidae family have shown that karyotypical data are important tools in phylogenetic and systematic studies within this group allowing to determine the position of species in the family. Thus, this study aimed to describe the karyotype of Ameivulaocellifera (Spix, 1825) from Picos, Piauí state in the Brazilian Northeast. Specimens were collected from August 2014 to October 2015 using interception traps and pitfalls, mounted randomly along the Caatinga area. The animals were collected and transported to Federal Institute of Piauí, campus Picos, where was carried out all laboratory procedures. Individuals analyzed showed a diploid number of 2n = 50 for both sexes, with karyotype composed by 30 macrochromosomes and 20 microchromosomes of telocentric and subtelocentric types. There were no heteromorphic sex chromosomes in the studied specimens. C-band technique evidenced the heterochromatic blocks in pericentromeric and telomeric regions of chromosomes. The nucleolar organizing regions appeared as a simple unit located at the terminal portion of the long arm of chromosomal pair number 5. The chromosomal characteristics of A. ocellifera analyzed do not show divergences regarding individuals from other regions. However, the nucleolar organizing regions seems to be a good chromosomal marker that permits to distinguish the species already studied.


Ameivula é um novo gênero da família Teiidae que surgiu após extensa revisão de espécies que compuseram o antigo complexo de espécies chamado grupo Cnemidophorus. Suas espécies têm uma ampla distribuição do nordeste do Brasil ao norte da Argentina. Estudos citogenéticos na família Teiidae mostraram que os dados cariotípicos são ferramentas importantes em estudos filogenéticos e sistemáticos dentro deste grupo, permitindo determinar a posição das espécies na família. Assim, este estudo tem como objetivo descrever o cariótipo de Ameivula ocellifera (Spix, 1825) de Picos, no nordeste brasileiro. Os espécimes foram coletados de agosto de 2014 a outubro de 2015 utilizando armadilhas de interceptação e armadilhas, montadas aleatoriamente ao longo da área da Caatinga. Os animais foram coletados e transportados para o Instituto Federal do Piauí, campus Picos, onde foram realizados todos os procedimentos laboratoriais. Os indivíduos analisados apresentaram um número diploide de 2n = 50 para ambos os sexos, com cariótipo composto por 30 macrocromossomos e 20 microcromossomos dos tipos telocêntrico e subtelocêntrico. Não houve cromossomos sexuais heteromórficos nos espécimes estudados. A técnica da banda C evidenciou os blocos heterocromáticos nas regiões pericentroméricas e teloméricas dos cromossomos. As regiões organizadoras de nucléolos apareceram como uma unidade simples localizada na porção terminal do braço longo do par cromossômico número 5. As características cromossômicas de A. ocellifera analisadas não mostram divergências em relação a indivíduos de outras regiões. No entanto, as regiões organizadoras de nucléolos parecem ser um bom marcador cromossômico que permite distinguir as espécies já estudadas.


Subject(s)
Cytogenetics , Karyotype
18.
Neotrop. ichthyol ; 18(4): e200055, 2020. tab, graf
Article in English | LILACS, VETINDEX | ID: biblio-1135408

ABSTRACT

The South American giant fishes of the genus Arapaima, commonly known as pirarucu, are one of the most iconic among Osteoglossiformes. Previously cytogenetic studies have identified their karyotype characteristics; however, characterization of cytotaxonomic differentiation across their distribution range remains unknown. In this study, we compared chromosomal characteristics using conventional and molecular cytogenetic protocols in pirarucu populations from the Amazon and Tocantins-Araguaia river basins to verify if there is differentiation among representatives of this genus. Our data revealed that individuals from all populations present the same diploid chromosome number 2n=56 and karyotype composed of 14 pairs of meta- to submetacentric and 14 pairs of subtelo- to acrocentric chromosomes. The minor and major rDNA sites are in separate chromosomal pairs, in which major rDNA sites corresponds to large heterochromatic blocks. Comparative genomic hybridizations (CGH) showed that the genome of these populations shared a great portion of repetitive elements, due to a lack of substantial specific signals. Our comparative cytogenetic data analysis of pirarucu suggested that, although significant genetic differences occur among populations, their general karyotype patterns remain conserved.(AU)


Os peixes gigantes da América do Sul do gêneroArapaima, comumente conhecidos como pirarucus, são um dos mais icônicos de Osteoglossiformes. Estudos citogenéticos prévios identificaram suas características cariotípicas, entretanto a caracterização da diferenciação citotaxonômica através de suas distribuições geográficas ainda são desconhecidas. Nesse estudo, nós comparamos características cromossômicas utilizando técnicas de citogenética clássica e molecular em populações das bacias dos rios Amazonas e Tocantins-Araguaia, a fim de verificar se há alguma diferenciação entre representantes desse gênero. Nossos dados revelaram que indivíduos de todas as populações apresentam número diploide de 2n=56 cromossomos e que seus cariótipos são compostos de 14 pares de cromossomos meta- e submetacêntricos e 14 pares de subtelo- e acrocêntricos. Os sítios maiores e menores de rDNA estão localizados em pares cromossômicos separados, onde os sítios maiores de rDNA correspondem a grandes blocos heterocromáticos. Hibridizações genômicas comparativas (CGH) mostraram que o genoma dos espécimes dessas populações é amplamente compartilhado, devido à falta de sinais substanciais específicos. Nossos dados de citogenética comparativa do pirarucu sugerem que embora diferenças genéticas significativas ocorram entre populações, os padrões cariotípicos gerais se mantêm conservados.(AU)


Subject(s)
Animals , DNA, Ribosomal , Cytogenetics , Karyotype , Fishes/genetics , Surveys and Questionnaires , Amazonian Ecosystem , Rivers , Data Analysis
19.
Neotrop. ichthyol ; 18(3): e200009, 2020. tab, graf, ilus
Article in English | LILACS, VETINDEX | ID: biblio-1135393

ABSTRACT

Historically, there are divergences in the species allocation between Centromochlus and Tatia. This study aimed to generate the first cytogenetic data about Centromochlus and, by analyzing a population of Centromochlus heckelii from the Amazon River basin, to contribute as evidence to a historical taxonomic dilemma. Diploid number of 46 chromosomes and a heteromorphic pair was found in the female karyotypes, thus characterizing a ZZ/ZW sex chromosome system. Pale blocks of heterochromatin were located in centromeric regions of some chromosomes; however, the exclusive female chromosome (W) is almost entirely heterochromatic. AgNORs were detected in terminal position on the short arms of one acrocentric pair in males and two chromosome pairs in females, the acrocentric plus the sex chromosome pair. Notable differences between Centromochlus heckelii and previous data about species of Tatia are: lower diploid number, presence of a sex chromosome system and multiple AgNORs in Centromochlus, while species of Tatia have simple AgNORs and the absence of acrocentric chromosomes. Results in this study show that chromosomal markers could contribute as evidence to taxonomic delimitation studies.(AU)


Historicamente, há divergências na alocação de espécies entre Centromochlus e Tatia. Este estudo teve como objetivo gerar os primeiros dados citogenéticos para Centromochlus e, através da análise de uma população de Centromochlus heckelii da bacia do rio Amazonas, contribuir como evidência para o dilema histórico taxonômico. Foi encontrado o número diploide de 46 cromossomos e um par heteromórfico nos cariótipos das fêmeas, o que caracteriza um sistema sexual ZZ/ZW. Blocos pálidos de heterocromatina foram localizados na região centromérica de alguns cromossomos; no entanto, o cromossomo exclusivo das fêmeas (W) se apresenta quase todo heterocromático. As AgRONs foram detectadas na posição terminal do braço curto de um par acrocêntrico nos machos e em dois pares cromossômicos nas fêmeas, um par de cromossomos acrocêntricos e o par sexual. Notáveis diferenças entre os dados cromossômicos de Centromochlus heckelii e os dados anteriores das espécies de Tatia são: menor número diploide, presença de sistema de cromossomos sexuais e AgRONs múltiplas em Centromochlus, enquanto espécies de Tatia apresentam AgRON simples e ausência de cromossomos acrocêntricos. Resultados deste estudo mostram que marcadores cromossômicos podem contribuir como evidência para estudos de delimitação taxonômica.(AU)


Subject(s)
Animals , Catfishes , Cytogenetic Analysis , Cytogenetics , Genetic Markers , Amazonian Ecosystem
20.
Article in English | WPRIM | ID: wpr-762462

ABSTRACT

BACKGROUND: JL1, a CD43 epitope and mucin family cell surface glycoprotein, is expressed on leukemic cells. An anti-JL1 antibody combined with a toxic substance can have targeted therapeutic effects against JL1-positive leukemia; however, JL1 expression on bone marrow (BM) lymphoma cells has not been assessed using flow cytometry. We investigated JL1 expression on BM lymphoma cells from patients with non-Hodgkin lymphoma (NHL) to assess the potential of JL1 as a therapeutic target. METHODS: Patients with BM involvement of mature B-cell (N=44) or T- and natural killer (NK)-cell (N=4) lymphomas were enrolled from May 2015 to September 2016. JL1 expression on BM lymphoma cells was investigated using flow cytometry. Clinical, pathological, and cytogenetic characteristics, and treatment responses were compared according to JL1 expression status. RESULTS: Of the patients with NHL and BM involvement, 37.5% (18/48) were JL1-positive. Among mature B-cell lymphomas, 100%, 38.9%, 33.3%, 100%, and 25.0% of Burkitt lymphomas, diffuse large B-cell leukemias, mantle cell leukemias, Waldenstrom macroglobulinemia, and other B-cell lymphomas, respectively, were JL1-positive. Three mature T- and NK-cell NHLs were JL1-positive. JL1 expression was associated with age (P=0.045), complete response (P=0.004), and BM involvement at follow-up (P=0.017), but not with sex, performance status, the B symptoms, packed marrow pattern, cytogenetic abnormalities, or survival. CONCLUSIONS: JL1 positivity was associated with superior complete response and less BM involvement in NHL following chemotherapy.


Subject(s)
B-Lymphocytes , Bone Marrow , Burkitt Lymphoma , Chromosome Aberrations , Cytogenetics , Drug Therapy , Flow Cytometry , Follow-Up Studies , Humans , Leukemia , Leukemia, B-Cell , Lymphoma , Lymphoma, B-Cell , Lymphoma, Non-Hodgkin , Membrane Glycoproteins , Mucins , Therapeutic Uses , Waldenstrom Macroglobulinemia
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