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1.
Medicine (Baltimore) ; 99(37): e22124, 2020 Sep 11.
Artigo em Inglês | MEDLINE | ID: mdl-32925763

RESUMO

RATIONALE: This study aimed to report 1 family case with novel Y chromosome structural variations by an established next-generation sequencing (NGS) method using unique STSs. PATIENT CONCERNS: The case studied was from a family with a father and son (the proband). G-band staining was used for karyotype analysis. Y chromosome microdeletions were detected by sequence-tagged site (STS)-PCR analysis and a new NGS screening strategy. DIAGNOSES: Semen analysis showed that the proband was azoospermic. The patient had an abnormal karyotype (45,X[48%]/46,XY[52%]). His father exhibited a normal karyotype. STS-PCR analysis showed that the proband had a deletion of the AZFb+c region, and his father had no deletion of STS markers examined. The sequencing method revealed that the patient had DNA sequence deletions from nt 20099846 to nt 28365090 (8.3 Mb), including the region from yel4 to the Yq terminal, and his father exhibited a deletion of b1/b3 and duplication of gr/gr. INTERVENTIONS: The proband was advised to undergo genetic counseling, and consider the use of sperm from a sperm bank or adoption to become a father. OUTCOMES: The proband was azoospermic. AZFc partial deletions may produce a potential risk for large AZFb+c deletions or abnormal karyotypes causing spermatogenic failure in men. LESSONS: The NGS method can be considered a clinical diagnostic tool to detect Y chromosome microdeletions. The partial AZFc deletions and/or duplications can be a risk of extensive deletions in offspring.


Assuntos
Infertilidade Masculina/diagnóstico , Infertilidade Masculina/genética , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Adulto , Deleção Cromossômica , Cromossomos Humanos Y/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Cariotipagem , Masculino , Sitios de Sequências Rotuladas , Aberrações dos Cromossomos Sexuais
2.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 28(4): 1162-1166, 2020 Aug.
Artigo em Chinês | MEDLINE | ID: mdl-32798392

RESUMO

OBJECTIVE: To investigate the curative efficacy of first generation TKI in the treatment of CML-CP combined with vPh and genetic characteristics. METHODS: 60 patients with CML-CP combined with vPh from January 2010 to May 2017 in the First Affiliated Hospital of Kunming Medical University were chosen as CML-CP-vPh group, and 107 patients with CML-CP combined with typical Ph chromosome at the same time were chosen as control group. The patients in two groups were treated with imatinib; The curative efficacy, karyotype and FISH signal type were compared between 2 groups, and the factors influencing long-term survival of patients were analyzed by Cox risk model. RESULTS: There was no significant difference in the demographic and hematological baseline data between 2 groups (P>0.05), and there was no significant difference in the incidence of drug-resistance between 2 groups (P>0.05). The incidence of primary drug-resistance and primary hematological drug-resistance in the CML-CP-vPh group were significantly higher than that in control group (P<0.05). There was no significant difference in the accumulative CCyR rate, accumulative MMR rate, OS and EFS between 2 groups (P>0.05). Multivariate Cox model analysis showed that vPh not correlated with OS and EFS of patients with CML-CP (P>0.05). The factors influencing OS in CML-vPh patients included high risk of Sokal scores, peripheral blood basophils proportion ≥10%, BCR-ABLIS in 3 months after treatment<10%, achieviag CCyR in 6 months after treatment and achieviag MMR in 12 months after treatment (P<0.05). The factors influencing EFS included BCR-ABLIS<10% in 3 months after treatment and achieving MMR in 12 months after treatment (P<0.05). The regions with high frequency of heterotopic involvement included 12q1, 12q2 [9 cases (15.00%)] and 1p3 [8 cases (13.33%)]. The percentage of 2G2R1Y, 1G1R2F, 1G2R1Y, 2G1R1Y and 1G1R1Y in FISH signal types were 73.33%, 10.00%, 1.67%, 1.67% and 1.67% respectively. CONCLUSION: Patients with CML-CP combined with vPh possess higher primary drug-resistance rate and primary hematological drug-resistance rate for the first generation TKI, while second-generation TKI can efficiently improve long-term survival, its efficacy is similar to efficacy for patients with typical Ph chromosomes. CML-CP combined with vPh does not display special demographic and hematological characteristics. The main involved regions of heterotopic variants include 12q1, 12q2 and 1p3, while 2G2R1Y type is the most common type of FISH signal.


Assuntos
Leucemia Mielogênica Crônica BCR-ABL Positiva , Proteínas de Fusão bcr-abl , Humanos , Mesilato de Imatinib , Cariotipagem , Inibidores de Proteínas Quinases , Resultado do Tratamento
3.
PLoS One ; 15(8): e0237157, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32760102

RESUMO

Ants (Formicidae) present considerable diversity in chromosome numbers, which vary from n = 1 to n = 60, although this variation is not proportional to that in genome size, for which estimates range from 0.18 pg to 0.77 pg. Intraspecific variation in the chromosome number and karyotype structure has been reported among species, although the variation among populations of the same species has received much less attention, and there are few data on genome size. Here, we studied the karyotype length and genome size of different populations of the fungus-farming ants Mycetophylax conformis (Mayr, 1884) and Mycetophylax morschi (Emery, 1888). We also provide remarks on procedure for the estimation of ant genome size by Flow Cytometry (FCM) analysis. Chromosome number and morphology did not vary among the populations of M. conformis or the cytotypes of M. morschi, but karyotype length and genome size were significantly distinct among the populations of these ants. Our results on the variation in karyotype length and genome size among M. morschi and M. conformis populations reveal considerable diversity that would be largely overlooked by more traditional descriptions of karyotypes, which were also supported by the estimates of genome size obtained using flow cytometry. Changes in the amount of DNA reflect variation in the fine structure of the chromosomes, which may represent the first steps of karyotype evolution and may occur previously to any changes in the chromosome number.


Assuntos
Formigas/genética , Cromossomos de Insetos/genética , Variação Genética , Genoma de Inseto , Cariótipo , Animais , Citometria de Fluxo/métodos , Cariotipagem/métodos
5.
Nat Commun ; 11(1): 3669, 2020 07 22.
Artigo em Inglês | MEDLINE | ID: mdl-32699356

RESUMO

Recent characterization of spatiotemporal genomic architecture of IDH-wild-type multifocal glioblastomas (M-GBMs) suggests a clinically unobserved common-ancestor (CA) with a less aggressive phenotype, generating highly genetically divergent malignant gliomas/GBMs in distant brain regions. Using serial MRI/3D-reconstruction, whole-genome sequencing and spectral karyotyping-based single-cell phylogenetic tree building, we show two distinct types of tumor evolution in p53-mutant driven mouse models. Malignant gliomas/GBMs grow as a single mass (Type 1) and multifocal masses (Type 2), respectively, despite both exhibiting loss of Pten/chromosome 19 (chr19) and PI3K/Akt activation with sub-tetraploid/4N genomes. Analysis of early biopsied and multi-segment tumor tissues reveals no evidence of less proliferative diploid/2N lesions in Type 1 tumors. Strikingly, CA-derived relatively quiescent tumor precursors with ancestral diploid/2N genomes and normal Pten/chr19 are observed in the subventricular zone (SVZ), but are distantly segregated from multi focal Type 2 tumors. Importantly, PI3K/Akt inhibition by Rictor/mTORC2 deletion blocks distant dispersal, restricting glioma growth in the SVZ.


Assuntos
Neoplasias Encefálicas/genética , Carcinogênese/genética , Evolução Clonal , Evolução Molecular , Glioblastoma/genética , Animais , Biópsia , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/patologia , Variações do Número de Cópias de DNA , Modelos Animais de Doenças , Regulação Neoplásica da Expressão Gênica , Glioblastoma/diagnóstico por imagem , Glioblastoma/patologia , Humanos , Isocitrato Desidrogenase/genética , Cariotipagem , Imagem por Ressonância Magnética , Alvo Mecanístico do Complexo 2 de Rapamicina/genética , Camundongos , Camundongos Transgênicos , Mutação , PTEN Fosfo-Hidrolase/genética , Fosfatidilinositol 3-Quinases/metabolismo , Proteínas Proto-Oncogênicas c-akt/metabolismo , Proteína Companheira de mTOR Insensível à Rapamicina/genética , Transdução de Sinais/genética , Análise de Célula Única , Sequenciamento Completo do Genoma
6.
PLoS One ; 15(7): e0235788, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32634157

RESUMO

The genus Makalata is a taxonomically complex group of rodents on which few cytogenetic studies have been performed. Most of the published karyotypes were described based only on conventional chromosome staining. Here, we studied the karyotypes of Makalata from two Brazilian Amazonian states, Amapá and Pará, by Giemsa-staining, G- and C-banding, AgNO3-staining and FISH with 18S rDNA and telomeric sequences probes. We observed 2n = 66/FN = 124 in the Pará state population in Makalata sp; and 2n = 72/FN = 128 in the Amapá state population in M. didelphoides. Multiple chromosome rearrangements may have given rise to these karyotypes, which differ significantly from each other and from those reported in the literature. The chromosomal differences among the described Makalata karyotypes can act as a barrier to gene flow; since they are also associated with geographic barriers (e.g., rivers) and numerous molecular differences, they could be seen as evidence for reproductive isolation of populations from genus Makalata. Our data suggest that the genus is chromosomally diverse and the karyotypes may belong to different species. These karyotypes may prove useful as taxonomic markers for these rodents.


Assuntos
Cariótipo , Roedores/genética , Animais , Brasil , Bandeamento Cromossômico , DNA Ribossômico/genética , Fluxo Gênico , Cariotipagem , Roedores/classificação , Especificidade da Espécie , Telômero/genética
7.
Ann Hematol ; 99(7): 1551-1560, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32504186

RESUMO

TP53 aberrations reportedly predict favorable responses to decitabine (DAC) in acute myeloid leukemia (AML). We evaluated clinical features and outcomes associated with chromosome 17p loss or TP53 gene mutations in older, unfit DAC-treated AML patients in a phase II trial. Of 178 patients, 25 had loss of 17p in metaphase cytogenetics; 24 of these had a complex (CK+) and 21 a monosomal karyotype (MK+). In analyses in all patients and restricted to CK+ and MK+ patients, 17p loss tended to associate with higher rates of complete remission (CR), partial remission (PR), or antileukemic effect (ALE). Despite favorable response rates, there was no significant OS difference between patients with or without loss of 17p in the entire cohort or in the CK+ and MK+ cohort. TP53 mutations were identified in eight of 45 patients with material available. Five of the eight TP53-mutated patients had 17p loss. TP53-mutated patients had similar rates of CR/PR/ALE but shorter OS than those with TP53 wild type (P = 0.036). Moreover, patients with a subclone based on mutation data had shorter OS than those without (P = 0.05); only one patient with TP53-mutated AML had a subclone. In conclusion, 17p loss conferred a favorable impact on response rates, even among CK+ and MK+ patients that however could not be maintained. The effect of TP53 mutations appeared to be different; however, patient numbers were low. Future research needs to further dissect the impact of the various TP53 aberrations in HMA-based combination therapies. The limited duration of favorable responses to HMA treatment in adverse-risk genetics AML should prompt physicians to advance allografting for eligible patients in a timely fashion.


Assuntos
Deleção Cromossômica , Decitabina/uso terapêutico , Leucemia Mieloide Aguda/tratamento farmacológico , Leucemia Mieloide Aguda/genética , Monossomia , Síndrome de Smith-Magenis , Proteína Supressora de Tumor p53/genética , Idoso , Idoso de 80 Anos ou mais , Cromossomos Humanos Par 17/genética , Evolução Clonal/efeitos dos fármacos , Evolução Clonal/genética , Análise Mutacional de DNA , Feminino , Alemanha/epidemiologia , Humanos , Cariótipo , Cariotipagem , Leucemia Mieloide Aguda/epidemiologia , Leucemia Mieloide Aguda/patologia , Masculino , Pessoa de Meia-Idade , Monossomia/diagnóstico , Monossomia/genética , Mutação , Síndrome de Smith-Magenis/diagnóstico , Síndrome de Smith-Magenis/epidemiologia , Síndrome de Smith-Magenis/genética , Análise de Sobrevida
8.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 28(3): 983-988, 2020 Jun.
Artigo em Chinês | MEDLINE | ID: mdl-32552969

RESUMO

OBJECTIVE: To study the potential significance and clinical application of FGFR1 gene abnormality in the diagnosis, clinical features, pathological mechanism and treatment in hematological tumors. METHODS: Clinical data of total of 29 patient with chromosome of 8 short arm (8P) abnormality who had more comprehensive medical history from 2013 to 2018 were collected. The karyotype analysis of bone marrow chromosomes in patients was carried out by using chromosome R band banding technique. FGFR1 gene was detected by using fluorescence in situ hybridization (FISH). RESULTS: Seven cases of FGFR1 gene abnormalities were decteted, including 3 cases of FGFR1 gene amplification, 2 cases of translocation, and 2 cases of deletion. Five patients with FGFR1 gene amplification or deletion not accompaned with eosinophilia, moreover the chromosome was a complex karyotype with poor prognosis; Two cases of FGFR1 gene translocation were non-complex chromosomal translocation and one of which survived for 6 years after bone marrow transplantation, the other chromosome karyotype showed no rearrangement of 8 short arm. However, FGFR1 gene rearrangement was confirmed by FISH analysis, which was a rare insertional translocation. CONCLUSION: FGFR1 gene amplification or deletion often occur in cases with complex karyotype, which not accompany eosinophilia, moreover have poor prognosis. The patients with FGFR1 gene translocation accompany eosinophilia which is consistent with the clinical characteristics of myeloid / lymphoid neoplasms with FGFR1 abnormality. Karyotype analysis combined with FISH method can improve the detection of abnormal clones.


Assuntos
Neoplasias Hematológicas/genética , Receptor Tipo 1 de Fator de Crescimento de Fibroblastos/genética , Aberrações Cromossômicas , Neoplasias Hematológicas/metabolismo , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Translocação Genética
9.
Proc Natl Acad Sci U S A ; 117(25): 14561-14571, 2020 06 23.
Artigo em Inglês | MEDLINE | ID: mdl-32518116

RESUMO

Recombination between homeologous chromosomes, also known as homeologous exchange (HE), plays a significant role in shaping genome structure and gene expression in interspecific hybrids and allopolyploids of several plant species. However, the molecular mechanisms that govern HEs are not well understood. Here, we studied HE events in the progeny of a nascent allotetraploid (genome AADD) derived from two diploid progenitors of hexaploid bread wheat using cytological and whole-genome sequence analyses. In total, 37 HEs were identified and HE junctions were mapped precisely. HEs exhibit typical patterns of homologous recombination hotspots, being biased toward low-copy, subtelomeric regions of chromosome arms and showing association with known recombination hotspot motifs. But, strikingly, while homologous recombination preferentially takes place upstream and downstream of coding regions, HEs are highly enriched within gene bodies, giving rise to novel recombinant transcripts, which in turn are predicted to generate new protein fusion variants. To test whether this is a widespread phenomenon, a dataset of high-resolution HE junctions was analyzed for allopolyploid Brassica, rice, Arabidopsis suecica, banana, and peanut. Intragenic recombination and formation of chimeric genes was detected in HEs of all species and was prominent in most of them. HE thus provides a mechanism for evolutionary novelty in transcript and protein sequences in nascent allopolyploids.


Assuntos
Cromossomos de Plantas/genética , Genes de Plantas/genética , Proteínas de Plantas/genética , Poliploidia , Recombinação Genética , Arabidopsis/genética , Arachis/genética , Brassica/genética , Biologia Computacional , Evolução Molecular , Fusão Gênica , Cariotipagem , Musa/genética , Oryza/genética , Transcrição Genética , Triticum/genética
10.
Cytogenet Genome Res ; 160(4): 206-213, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32485719

RESUMO

Studies in several organisms have contributed to the understanding of heterochromatin and its biological importance. In bees of the tribe Meliponini, the presence of chromosomes with totally heterochromatic arms has been attributed to the mechanism of karyotype evolution in which this group accumulated heterochromatin to maintain telomere stability after centric fission events. In the present study, the use of classical and molecular cytogenetic techniques as well as automated image analysis software for the description of the karyotypes of Partamonachapadicola and P. nhambiquara bee species revealed variability in the compaction and patterns of chromatin structure. Although both species have the same chromosome number as other species in the genus Partamona (2n = 34), C-banding and image analyses indicated the existence of chromosomes with 3 regions of different staining intensities, suggesting a chromatin structure with distinct patterns and characteristics. Repetitive DNA probes hybridized only in the euchromatic regions, whereas the regions with intermediate staining intensity did not show any hybridization signals. This suggests that these regions present features more similar to heterochromatin. Evidence of the existence of a chromatin class with intermediate condensation compared to euchromatin and heterochromatin indicates a potential mechanism for heterochromatin amplification and demonstrates the need for further studies on this topic. This previously unrecognized class of chromatin should be taken into account in the study of all Meliponini chromosomes.


Assuntos
Abelhas/classificação , Abelhas/genética , Cromatina/genética , Cromatina/metabolismo , Cariotipagem , Animais , Bandeamento Cromossômico , Feminino , Indóis , Masculino , Metáfase
11.
Cytogenet Genome Res ; 160(4): 193-198, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32485720

RESUMO

Both cattle (Bos taurus) and sheep (Ovis aries) belong to the Bovidae family but to different subfamilies, Bovinae and Caprinae, respectively. From a chromosomal point of view, apart from the already known centric fusions (that occurred during the evolutionary process in the Bovidae family) and the small differences in the chromosome classification, the 2 karyotypes are very similar in banding patterns. In this study, the combination of bioinformatics techniques and physical mapping of DNA markers enabled the identification of a micro-rearrangement, a small inversion involving bovine chromosome 21 (BTA21) and the corresponding sheep chromosome 18 (OAR18). The aim of this study was the cytogenetic characterization of this difference in genomic assemblies between cattle and sheep in this single chromosome region. To verify the inversion in FISH experiments, we used the BACs 442H08 and 222H03 from the INRA library and BACs 134H22 and 436P08 from the sheep-specific CHORI library. The results confirmed the presence of the inverted fragment in sheep compared to the cattle genome. Genomic rearrangements may have consequences depending on their influence on gene activity, but in this case no gene or transcribed DNA portion seemed to be involved. In conclusion, we showed for the first time, concerning autosomes, that besides the already known centric fusions also other differences exist between the bovine and sheep karyotypes. Furthermore, we demonstrated that the combination of a bioinformatics approach and physical mapping is a valid tool for the identification of currently unknown rearrangements between related species.


Assuntos
Bovinos/genética , Inversão Cromossômica/genética , Cromossomos de Mamíferos/genética , Evolução Molecular , Cariotipagem , Ovinos/genética , Animais , Feminino , Hibridização in Situ Fluorescente , Masculino
13.
Ceska Gynekol ; 85(1): 41-48, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32414284

RESUMO

BACKGROUND: The „gold standard“ for prenatal diagnosis of aneuploidies is provided by the karyotype, which has high accuracy, but is dependent on invasive procedures, which generate risk of fetal loss. Different methodologies of development of noninvasive prenatal genetic tests (NIPT) for tracking aneuploidies, including sex chromosomes, have been made available for clinical use, for some microdeletions and triploids and for exclusion of paternity. These exams make use of three methodological tools: s-MPS, t-MPS and SNP. Genetic tests, despite the high cost, cover a broader range of clinical applications, have the advantage that can be performed early, with high accuracy, and low false positive rate. Type of article: Review. SETTING: Department of Obstetrics and Gynecology, Science College of Santa Casa of São Paulo (FSMSCSP), São Paulo-SP, Brazil. DESIGN AND METHODS: This study was a non-asystematic review, which searched PubMed / MEDLINE as a research source and aimed at the compilation of data, which allowed approaching the evolution, the technical and methodological advances of the available tests, the recognition of its benefits, limitations and future perspectives on NIPT. CONCLUSION: NIPT stand out for being applied earlier during the pregnancy with high accuracy and low false-positive rates, including a broad spectrum of clinical applications. The t-MPS is a recent technique used to evaluate aneuploidy that shows greater accuracy and lower cost than the s-MPS, but that is limited to being applied only to the most common aneuploidies. The SNP technique can search for more genetic conditions, besides presenting better accuracy.


Assuntos
Aneuploidia , Testes Genéticos/métodos , Diagnóstico Pré-Natal , Brasil , Feminino , Humanos , Cariotipagem , Gravidez
14.
Cytogenet Genome Res ; 160(4): 214-223, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32369805

RESUMO

Coleoptera is a mega-diverse order, but only about 1% of its species have been analyzed cytogenetically. In this order, the subfamily Alticinae presents many identification problems, mainly due to the occurrence of mimicry. The objective of this work was to cytogenetically characterize 3 very similar species of the genus Alagoasa (A. pantina, A.areata, and A.scissa). We used classical and molecular cytogenetic as well as molecular genetic techniques. All 3 species showed a diploid chromosome number of 2n = 22 (20+X+y), but differences in the morphology of the chromosomes. All had a meiotic formula of 2n = 10II+X+y and an X+y sex determination system with giant, fully asynaptic sex chromosomes, concordant characteristics observed in the subtribe Oedionychina. FISH demonstrated the presence of 18S and 5S rDNA clusters in 1 pair of autosomes, syntenic and colocalizing in the 3 analyzed species. However, in A. areata, heteromorphism between the cistrons was observed. The telomeric (TTAGG)n probe showed signals in all 3 species, with proximal signals in the X and dispersed signals in the y chromosome of A. areata, and 2 proximal signals in the X chromosome of A. scissa. Molecular analysis of the COI gene indicated that they are 3 distinct species, corroborating the observed cytogenetic characteristics.


Assuntos
Mimetismo Biológico , Besouros/classificação , Besouros/genética , Citogenética , Animais , Teorema de Bayes , Complexo IV da Cadeia de Transporte de Elétrons/genética , Cariotipagem , Masculino , Meiose/genética , Filogenia , Clima Tropical
15.
Cytogenet Genome Res ; 160(4): 199-205, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32369809

RESUMO

Bird chromosomes, which have been investigated scientifically for more than a century, present a number of unique features. In general, bird karyotypes have a high diploid number (2n) of typically around 80 chromosomes that are divided into macro- and microchromosomes. In recent decades, FISH studies using whole chromosome painting probes have shown that the macrochromosomes evolved through both inter- and intrachromosomal rearrangements. However, chromosome painting data are available for only a few bird species, which hinders a more systematic approach to the understanding of the evolutionary history of the enigmatic bird karyotype. Thus, we decided to create an innovative database through compilation of the cytogenetic data available for birds, including chromosome numbers and the results of chromosome painting with chicken (Gallus gallus) probes. The data were obtained through an extensive literature review, which focused on cytogenetic studies published up to 2019. In the first version of the "Bird Chromosome Database (BCD)" (https://sites.unipampa.edu.br/birdchromosomedatabase) we have compiled data on the chromosome numbers of 1,067 bird species and chromosome painting data on 96 species. We found considerable variation in the diploid numbers, which ranged from 40 to 142, although most (around 50%) of the species studied up to now have between 78 and 82 chromosomes. Despite its importance for cytogenetic research, chromosome painting has been applied to less than 1% of all bird species. The BCD will enable researchers to identify the main knowledge gaps in bird cytogenetics, including the most under-sampled groups, and make inferences on chromosomal homologies in phylogenetic studies.


Assuntos
Aves/genética , Cromossomos/genética , Citogenética , Bases de Dados Genéticas , Animais , Aves/classificação , Galinhas/genética , Coloração Cromossômica , Diploide , Feminino , Cariotipagem , Masculino , Filogenia , Especificidade da Espécie
16.
J Cancer Res Ther ; 16(1): 18-22, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32362604

RESUMO

Introduction and Aims: Acute myeloid leukemia (AML) in adults has poor prognosis. The epidemiologic profile of patients varies greatly in different geographic locations and so do the cytogenetic abnormalities and the FAB subtype of the AML. We intended to study the clinical profile, cytogenetics, and outcomes with standard of care treatment on our population in India. Methods: This was a retrospective study with systematic review of 203 case records. Primary objectives were to know the demographic profile of AML, prevalence of various FAB subtypes, cytogenetic abnormalities, and treatment outcomes at our center, which is a referral center of oncology. Two treatment outcomes considered in study for patients of AML were achievement of remission status of the bone marrow postintensive induction chemotherapy and sustenance of the remission for 6 months, once remission is achieved. Secondary objective was to study these outcomes in non-M3 AML in relation to cytogenetics. Results: Median age was 39 years. The most common FAB subtype observed was AML M2. About 65.6% patients achieved complete remission (CR), and 42.4% patients could sustain it for next 6 months. Cytogenetics correlated with prognosis but not age. Conclusions: Our population differs from the Western population regarding lower age, lower prevalence of adverse cytogenetics, and higher prevalence of favorable cytogenetic abnormalities. Cytogenetics had a good correlation with CR rates after chemotherapy as well as its sustenance.


Assuntos
Medula Óssea/patologia , Aberrações Cromossômicas , Quimioterapia de Indução/métodos , Leucemia Mieloide Aguda/tratamento farmacológico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Índia , Cariotipagem/métodos , Leucemia Mieloide Aguda/genética , Leucemia Mieloide Aguda/patologia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem
17.
Cytogenet Genome Res ; 160(5): 264-271, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32396915

RESUMO

The Talpidae family has a highly stable karyotype. Most of the chromosome studies in this mammal group, however, employed classical cytogenetic techniques. Molecular cytogenetic analyses are still scarce and, for example, no repeated DNA sequences have been described to date. In this work, we used sequence analysis, chromosomal mapping of a LINE1 retroelement sequence, as well as chromosome painting with a whole Y chromosome probe of T. occidentalis to compare the karyotypes of 3 species of the genus Talpa (T. occidentalis, T. romana, and T. aquitania). Our results demonstrate that in Talpa genomes LINE1 sequences are widely distributed on all chromosomes but are enriched in pericentromeric C-band-positive regions. In addition, these LINE1 accumulate on the Y chromosomes of the 3 Talpa species regardless of their euchromatic or heterochromatic condition. Chromosome painting shows that the Y chromosomes in these 3 species are highly conserved. Interestingly, they share sequences with heterochromatic blocks on chromosome pairs 14 and 16 and, to a lesser degree, with the pericentromeric regions of other autosomes. Together, our analyses demonstrate that the repetitive DNA content of chromosomes from Talpa species is highly conserved.


Assuntos
Insetívoros/genética , Cariótipo , Cromossomo Y/genética , Animais , Insetívoros/classificação , Cariotipagem , Masculino , Especificidade da Espécie
18.
Adv Exp Med Biol ; 1195: 163-166, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32468472

RESUMO

INTRODUCTION: Chromosome 18q deletion syndrome (18q-) is a rare chromosomal disorder with phenotypic variability, including mental deficiency, short stature, hypotonia, cleft palate, and hearing impairment. We present a case with features of 18q- syndrome who had combined 18q partial monosomy and 18p partial trisomy. MATERIAL AND METHODS: A 50-year-old female patient was examined during the genetic counseling of her brother. She had a history of congenital cleft palate and developmental deficiency with hypotonia, hearing loss, and epilepsy until adulthood. Her family history was free of related cases. Karyotype analysis and comparative genomic hybridization array (aCGH) were performed in patient's blood samples. RESULTS: Clinical examination showed features of 18q- syndrome including hypotonia and tremor. Neuropsychological deficiency of moderate cognitive disorder was noticed. The patient's karyotype was normal. The aCGH analysis revealed 8 Mb deletion (del18q22.3q23) and 7.2 Mb duplication (dup18p11.32p11.23). CONCLUSION: Almost all patients' clinical features were associated with 18q- syndrome. There are very few reported cases with similar genotype possibly caused by a de novo unequal recombination mechanism.


Assuntos
Deleção Cromossômica , Transtornos Cromossômicos/genética , Duplicação Cromossômica/genética , Cromossomos Humanos Par 18/genética , Anormalidades Craniofaciais/genética , Hibridização Genômica Comparativa , Feminino , Humanos , Cariotipagem , Masculino , Pessoa de Meia-Idade , Fenótipo , Síndrome
19.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(5): 532-534, 2020 May 10.
Artigo em Chinês | MEDLINE | ID: mdl-32335879

RESUMO

OBJECTIVE: To delineate the nature and origin of chromosomal aberration in a boy with mental retardation and multiple congenital deformities. METHODS: Chromosomal karyotypes of the proband and his parents were determined by routine G-banding analysis. Genomic DNA was also analyzed with single nucleotide polymorphism array (SNP array). RESULTS: The karyotype of the proband was 46,X,add(Y)(q11.23). No karyotypic abnormality was detected in either parent. SNP array has identified a de novo 21.6 Mb duplication at 22q12qter in the proband. CONCLUSION: The de novo 22q12qter duplication probably underlies the abnormalities in the proband.


Assuntos
Anormalidades Múltiplas , Cromossomos Humanos Par 22 , Trissomia , Anormalidades Múltiplas/genética , Adulto , Criança , Bandeamento Cromossômico , Cromossomos Humanos Par 22/genética , Feminino , Testes Genéticos , Humanos , Deficiência Intelectual/genética , Cariotipagem , Masculino
20.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(5): 547-550, 2020 May 10.
Artigo em Chinês | MEDLINE | ID: mdl-32335883

RESUMO

OBJECTIVE: To analyze the clinical features and pathogenesis of a fetus with holoprosencephaly. METHODS: The findings of prenatal ultrasonography was reviewed. Following elective abortion, whole exome sequencing (WES) was carried out to identify potential pathogenic variant. Copy number variants (CNVs) of the abortus and its parents were detected by low-depth high-throughput sequencing. The parents were also analyzed by chromosomal karyotyping. RESULTS: Prenatal ultrasound suggested that the fetus had holoprosencephaly. WES revealed that it had approximately 33 Mb deletion at chromosome 13 involving ZIC2, a haploid dose sensitive gene. The results of low-depth high-throughput sequencing confirmed that the fetus carried a de novo 32.32 Mb deletion at 13q31.1-34. Karyotyping analysis has excluded gross chromosomal aberration in both parents. CONCLUSION: The fetus was diagnosed with holoprosencephaly, which may be attributable to the 13q31.1-34 deletion involving the ZIC2 gene.


Assuntos
Holoprosencefalia , Deleção de Sequência , Adulto , Cromossomos Humanos Par 13/genética , Feminino , Feto , Testes Genéticos , Holoprosencefalia/diagnóstico por imagem , Holoprosencefalia/genética , Holoprosencefalia/patologia , Humanos , Cariotipagem , Masculino , Proteínas Nucleares/genética , Gravidez , Diagnóstico Pré-Natal , Fatores de Transcrição/genética , Ultrassonografia Pré-Natal , Sequenciamento Completo do Exoma
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