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1.
Article in Chinese | WPRIM | ID: wpr-879517

ABSTRACT

OBJECTIVE@#To analyze the results of concurrent hearing and deafness genetic screening and follow up of newborns.@*METHODS@#In total 33 911 babies born to 5 designated hospitals in Nanshan District of Shenzhen city from October 2017 to December 2019 were included. All subjects underwent concurrent hearing and deafness genetic screening covering 21 variants of 4 genes including GJB2, SLC26A4, GJB3 and Mt12SrRNA. For those with positive results, Sanger sequencing was carried out for confirmation.@*RESULTS@#93.32% subjects passed the first-round hearing screening, and 87.01% passed the recheck testing. The overall detection rate was 4.18%. The detection rates for GJB2, SLC26A4, GJB3 and Mt12srRNA variants were 1.98%, 1.58%, 0.37% and 0.25%, respectively. 126 and 84 subjects were found with high risk for delayed-onset and drug-induced hearing loss, respectively. In addition, 4 and 5 subjects were found to harbor homozygous/compound heterozygous variants of the GJB2 and SLC26A4 genes, respectively. Concurrent screening showed that subjects (with heterozygous variants) who did not passed the two round hearing test were as follows: GJB2 with 6.75% in the first round and 2.61% in the second round testing, SLC26A4 (3.3%/1.2%), GJB3 (0.72%/0.14%) and 12SrRNA (0.36%/Nil), respectively. Moreover, the No-pass rate in the subjects with homozygous or compound variants in single gene, heterozygous variant in single gene, heterozygous variant in multiple genes, and homozygous variant in GJB3 gene were significantly higher than the subjects with negative results of genetic screening.@*CONCLUSION@#Concurrent newborn genetic screening can enhance the effectiveness of hearing screening and enable earlier identification and intervention for children with hearing impairment. Follow-up can improve the diagnostic rate for children who are positive for the concurrent screening. Nevertheless, genetic and hearing screening cannot replace the diagnostic testing. It is necessary to conduct comprehensive analysis for the results of genetic and hearing screening and radiological examinations. Sanger sequencing and next-generation sequencing are critical for ascertain the diagnosis.


Subject(s)
China/epidemiology , DNA Mutational Analysis , Deafness/genetics , Follow-Up Studies , Genes/genetics , Genetic Testing/statistics & numerical data , Hearing/genetics , Hearing Tests/statistics & numerical data , Humans , Infant, Newborn , Mutation , Neonatal Screening
2.
São Paulo; s.n; s.n; 2019. 193 p. tab, graf.
Thesis in Portuguese | LILACS | ID: biblio-987685

ABSTRACT

A frequência de Hipercolesterolemia Familial (HF) ainda é desconhecida no Brasil, principalmente pela ausência de estudos com caracterização genotípica associada à fenotípica. Os dados epidemiológicos existentes se baseiam apenas no fenótipos e carecem do diagnóstico molecular confirmatório. O objetivo do presente estudo foi identificar as principais causas genéticas da HF em pacientes diagnosticados fenotipicamente através de um painel exômico com 61 genes a fim de contribuir para um sistema de confirmação do diagnostico molecular em uma amostra da população brasileira. Para isso foram incluídos 141 pacientes, não aparentados, portadores de HF atendidos pelo setor de dislipidemias do Instituto Dante Pazzanese de Cardiologia, Laboratório de Analises Clinicas da Faculdade de Ciências Farmacêuticas da Universidade Federal do Rio Grande do Norte e do Programa Hipercol Brasil do Instituto do Coração. As amostras de sangue periférico foram obtidas para determinações fenotípicas laboratoriais e extração de DNA genômico. A biblioteca de DNA foi construída utilizando o kit Nextera® Rapid Capture Enrichment Custom enriquecendo os éxons de 61 genes que direta ou indiretamente estão relacionados com metabolismo do colesterol. O ultrassequenciamento foi realizado utilizando kit MiSeq Reagent (300 a 500 ciclos) na plataforma MiSeq (Illumina). Os resultados de sequenciamento foram inicialmente alinhados a uma sequência referência e analisados para eliminação de falsos positivos, segundo os parâmetros de qualidade, tais como: cobertura mínima de 30x, frequência do alelo alterado maior que 20% e diferença da distribuição das leituras entre as sequências nucleotídicas menor que 15%. Foram identificadas 472 diferentes variantes em 56 dos genes presentes no painel, sendo 45 consideradas como não descritas. Nos genes APOA1, APOA2, LIPC, RBP4 e TIMP1 não foram observadas variantes dentro dos critérios estabelecidos. Das variantes observadas 25 identificadas em 30 (21,2%) pacientes já tinha sido publicadas em relação à HF nos três principais genes (LDLR, APOB e PCSK9), confirmando o diagnóstico. Foi caracterizado genotipicamente outras dislipidemias primárias em 7 pacientes, sem diagnóstico molecular de HF, através de variantes identificadas no ultrassequenciamento em outros genes. Dos 104 pacientes que não possuíam nenhuma variante já previamente caracterizada, 69 possuíam variantes relacionados com o metabolismo do colesterol. As variantes sem patogenicidade conhecida foram avaliadas através de ferramentas de predição in silico e 22 delas possuíam características sugestivas de patogenicidade em pelo menos 4 das ferramentas utilizadas, duas delas também mostraram alterar a estrutura da proteína segundo análises de docking molecular. Foram identificadas também 223 variantes em região não transcritas (UTR). Quando realizada as análises estatística de todas as variantes identificadas, observamos associação de 13 variantes com concentrações mais elevadas de colesterol da LDL, 5 com concentrações mais elevadas de apolipoproteina B-100, 5 com concentrações mais elevadas de colesterol total, 6 com presença de arco córneo, 2 com manifestação de xantelasmas, 2 com ausência de xantomas e 3 com a presença de doença arterial coronariana. Dessas 6 variantes já haviam sido previamente descritas com HF ou algum outro fenótipo associado e 2 não tinham citação na literatura pesquisada, mas possuíam característica patogênica para a proteína segundo as ferramentas de predição in silico. Este estudo permitiu a identificação das causas genéticas da HF em pacientes brasileiros diagnosticados fenotipicamente, mostrando que a técnica escolhida permitiu caracterizar 21,2% dos pacientes. Além disso, foi possível identificar outras dislipidemias primárias e caracterizar algumas variantes que, apesar de necessitarem serem validadas, indicam uma possível associação com a HF, aumentando o esclarecimento do fenótipo com o genótipo para 74,5%. Este estudo também possibilitou a identificação de novas variantes que devem ser avaliadas para confirmar associação com a doença e utilizar para o diagnóstico propondo um novo painel poligênico


The frequency of Familial Hypercholesterolemia (FH) is still unknown in Brazil, mainly due to the absence of studies with genotypic characterization associated with phenotype. Existing epidemiological data are based only on the phenotypes and lack the confirmatory molecular diagnosis. The aim of the present study was to identify main genetic causes of FH in patients diagnosed phenotypically through an exomic panel with 61 genes in order to contribute to a system of confirmation molecular diagnosis in a sample of the Brazilian population. To this end, 141 non-related patients with FH treated by the dyslipidemia sector of the Institute Dante Pazzanese of Cardiology, Clinical Analysis Laboratory of the Faculty of Pharmaceutical Sciences of the University Federal of Rio Grande do Norte and the Hipercol Brazil Program of the Heart Institute. Peripheral blood samples were obtained for laboratory phenotypic determinations and extraction of genomic DNA. The DNA library was constructed using the Nextera® Rapid Capture Enrichment Custom kit, enriching with éxons of 61 genes that are directly or indirectly related to cholesterol metabolism. Ultrasequencing was performed using MiSeq Reagent kit (300 to 500 cycles) on the MiSeq platform (Illumina). The sequencing results were initially aligned to a reference sequence and analyzed for false positive elimination according to quality parameters such as: minimum coverage of 30x, altered allele frequency greater than 20%, and difference in the distribution of reads between sequences nucleotides less than 15%. 472 different variants were identified in 56 of the genes present in the panel, of which 45 were considered not described. In the APOA1, APOA2, LIPC, RBP4 and TIMP1 genes no variants were observed within the established criteria. In 25 of the variants observed presents in 30 (21.2%) patients had already been published in relation to FH in the three main genes (LDLR, APOB and PCSK9), confirming the diagnosis. Other primary dyslipidemias were caracterized genotypically in 7 patients, without molecular diagnosis of HF, through variants identified in ultrasequencing in other genes. Of the 104 patients who did not have any previously characterized variant, 69 had variants related to cholesterol metabolism. The variants without known pathogenicity were evaluated using in silico prediction tools and 22 of them had characteristics suggestive of pathogenicity at least 4 of the tools used, two of them also showed to alter the structure of the protein according to molecular docking analyzes. Were also identified 223 non-transcribed region (UTR) variants. Statistical analysis of all the variants identified showed association of 13 variants with higher concentrations of LDL cholesterol, 5 with higher concentrations of apolipoprotein B-100, 5 with higher concentrations of total cholesterol, 6 with presence of an arc corneal, 2 with manifestation of xanthelasms, 2 with absence of xanthomas and 3 with the presence of coronary artery disease. Of these 6 variants had previously been described with HF or some other associated phenotype and 2 had no citation in the researched literature, but had a pathogenic characteristic for the protein according to in silico prediction tools. This study allowed the identification of the genetic causes of FH in Brazilian patients diagnosed phenotypically, showing that the technique chosen allowed to characterize 21.2% of the patients. In addition, it was possible to identify other primary dyslipidemias and to characterize some variants that, although they need to be validated, indicate a possible association with HF, increasing the clarification of the phenotype with the genotype to 74.5%. This study also allowed the identification of new variants that should be evaluated to confirm association with the disease and to use for the diagnosis proposing a new polygenic panel


Subject(s)
Humans , Male , Female , Genes/genetics , Hyperlipoproteinemia Type II/genetics , Apolipoproteins B/analysis , Gene Library , Proprotein Convertase 9/analysis
3.
Rev. medica electron ; 40(4): 1100-1111, jul.-ago. 2018. ilus
Article in Spanish | LILACS, CUMED | ID: biblio-961283

ABSTRACT

RESUMEN La biología de los gliomas malignos se asocia con el balance de la expresión de las proteínas que controlan de manera positiva o negativa el ciclo celular, la proliferación, la motilidad, la neoformación vascular y el reconocimiento del sistema inmune. La frecuencia de las alteraciones genéticas que están presentes en GBM2 y GBM1 son diferentes así como la edad de los pacientes en la que se presentan. Mientras que los GBM1 suelen aparecer en edades más tardías, alrededor de los 60-70 años, los GBM2 suelen presentarse en edades más tempranas, 40-50 años. En la génesis del glioblastoma existen alteraciones moleculares a nivel de genes supresores de tumores, oncogenes y genes reparadores de ADN (AU).


ABSTRACT The glioblastoma it is the primary wicked tumor of the central nervous system more common in adults and it invariably associates to a bad presage. The biology of the wicked gliomas associates with the balance of the expression of the proteins that they control of positive way or negative the cellular cycle, the proliferation, the motility, the vascular neoformation and the recognition of the immune system. The frequency of the genetic alterations that they are present in GBM2 and GBM1 is different. While the GBM1 usually appears in later ages, around the 60-70 years, the GBM2 usually presents in earlier ages, 40-50 years. In the genesis of the glioblastoma exist molecular alterations at level of suppressive genes of tumors (GST), oncogenes and reparative genes of DNA (AU).


Subject(s)
Humans , Oncogenes/genetics , Biology/classification , DNA/classification , Patients , Proteins , Cell Cycle , Genes, Suppressor , Glioblastoma , Genes/genetics
4.
Braz. J. Pharm. Sci. (Online) ; 54(1): e00265, 2018. tab, graf
Article in English | LILACS | ID: biblio-951915

ABSTRACT

ABSTRACT In recent years, non-viral delivery systems for plasmid DNA have become particularly important. They can overcome the disadvantages of viral systems such as insertional mutagenesis and unpredicted immunogenicity. Some additional advantages of non-viral gene delivery systems are; good stability, low cost, targetability, delivery of a high amount of genetic materials. The aim of the study was to develop novel non-viral nanosystems suitable for gene delivery. Two formulations were developed for this purpose: water-in-oil microemulsion (ME) and solid lipid nanoparticles (SLN). The microemulsion was composed of Peceol, Tween 80, Plurol oleique, ethanol and water. The SLN was consisting of Precirol, Esterquat-1 (EQ1), Tween 80, Lecithin, ethanol and water. Characterization studies were carried out by measuring particle size, zeta potential, viscosity and pH. TEM imaging was performed on SLN formulations. Protection against DNase I degradation was examined. Cytotoxicity and transfection efficacy of selected formulations were tested on L929 mouse fibroblast cells. Particle sizes of complexes were below 100 nm and with high positive zeta potential. TEM images revealed that SLNs are spherical. The SLN:DNA complexes have low toxicity and good transfection ability. All results showed that the developed SLN formulations can be considered as suitable non-viral gene delivery systems.


Subject(s)
DNA/analysis , Genes/genetics , Transfection/statistics & numerical data , Genetic Therapy/classification
5.
Braz. J. Pharm. Sci. (Online) ; 53(2): e16105, 2017. tab, graf
Article in English | LILACS | ID: biblio-839491

ABSTRACT

ABSTRACT When the FLT3 gene is mutated, it originates a modified receptor with structural changes, which give survival advantage and malignant hematopoietic cell proliferation. Thus, the presence of mutations in this gene is considered an unfavorable prognostic factor. A total of 85 consecutive samples of newly diagnosed untreated patients with AL were included in the study after they provided their informed consent. FLT3 gene mutations were detected by PCR. For the pediatric group, a positive correlation was observed between WBC count and the presence of FLT3-ITD in patients with AML and ALL. Furthermore, children with AML who had the FLT3-ITD mutation showed a tendency to express CD34 in blast cells. In the adult group, the AML patients with FLT3-ITD who expressed CD34 in blast cells had a tendency to worse progression. The present data indicate no association between the prognostic factors evaluated and FLT3 gene mutations in adult with AL. Yet, the presence of FLT3-ITD mutation was significantly related with WBC count in the pediatric group. These findings demonstrate that FLT3 gene mutations can be considered as independent poor prognostic factors.


Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Adult , Middle Aged , Aged , Aged, 80 and over , Patients/statistics & numerical data , Leukemia/pathology , Adult , Genes/genetics , Mutation/genetics , Prognosis , Child , Polymerase Chain Reaction/instrumentation
6.
Appl. cancer res ; 37: 1-5, 2017.
Article in English | LILACS, Inca | ID: biblio-911629

ABSTRACT

Cancer is rapidly growing to be one of the major health burdens in Brazil and Latin America. Access to tumor samples is one of the many barriers that need to be removed in order to promote clinical and translational research aimed at developing and improving cancer prevention and treatment in this region. Although there is a growing interest in establishing tumor collections in many hospitals and institutions, success is limited by the lack of knowledge of the complexities of this activity. This article reviews the regulatory, pathology, and molecular aspects that are relevant to the establishment of tumor banks in Brazil and Latin America. It also provides an overview of key players in the region (AU)


Subject(s)
Humans , Brazil , Cell Biology , Genes/genetics , Latin America
7.
Article in English | IMSEAR | ID: sea-154552

ABSTRACT

The diagnosis of any pathology is fundamentally based on the microscopic structure of cells and tissues and this remains as the standard by which all other diagnostic tests are measured. In this era, the pathologists are relying on the examination of tissue section stained by histochemical means and it is supported by the advanced immunological, biochemical and molecular techniques. This review will provide the information about one of the way that can be followed to unravel the molecular mechanism in spotting the disease process. Technologies used to study the cellular process are same for the normal and the abnormal cell. Experimental strategy briefed here is also applicable for both. The cellular process can be studied either from protein to gene or from gene to protein. Earlier days biochemical analysis (isolation of protein, protein sequencing) was separate and genetic analysis (genomic mapping) was separate. But now with advent of recombinant DNA technology it is possible to have a link between the biochemical and genetic analysis. Intermediary step of development of oligonucleotide synthesis, complementary DNA probe and cloning has revolutionized the research process. Identified gene can be compared with the normal gene by comparative genomics or expressed proteins by expression proteomics.


Subject(s)
DNA Probes/genetics , Gene Expression Profiling , Genes/genetics , Genetic Variation/analysis , Proteins/genetics , Review Literature as Topic
8.
Alexandria Journal of Veterinary Sciences [AJVS]. 2014; 40: 1-15
in English | IMEMR | ID: emr-160050

ABSTRACT

The objective of this study was to investigate the molecular characterization of Listeria species isolated from frozen raw fish. A total of 219 samples consisting of 104 mackerel, 52 horse mackerel, 51 catfish and 12 herring were collected and analyzed by bacteriological, serological, antimicrobial and molecular methods. Overall, 29[56.9%] and 1[0.96%] of catfish samples and mackerel samples respectively were positive for Listeria spp. No Listeria was detected in herring and horse mackerel. In catfish, L. welshimeri [13.7%] was the most commonly isolated species followed by L. monocytogenes [11.8%], L. innocua [9.8%], L. grayi subsp. murrayi [9.8%], L. grayi subsp. grayi [7.8%], and L. ivanovii [3.9%]. In mackerel, only L. monocytogenes was detected in one sample.L. monocytogenes isolates serotyped as type 1 and type 4 [3 isolates each] and one non-typeable.Antimicrobial resistance profiling showed all L. monocytogenes isolates were resistant to ampicillin and tetracycline. Two were resistant to erythromycin. However, they were susceptible to rifampicin, vancomycin, chloramphenicol and streptomycin. Four virulence-associated genes [prfA, hlyA, actA and inlA] in addition to the genus gene [prs] were investigated using multiplex PCR. All the isolates were positive for prs gene but, onlyL. monocytogenes isolates were positive for all tested virulence genes. Our study indicates that imported raw catfish can represent a significant source of L. monocytogenes and potential health risk for listeriosis


Subject(s)
Animals , Genes/genetics , Drug Resistance, Microbial/drug effects , Virulence/drug effects , Fish Products , Catfishes
9.
Assiut Medical Journal. 2014; 38 (2): 111-122
in English | IMEMR | ID: emr-160292

ABSTRACT

Hydatidosis is one of the most important parasitic zoonosis and remains a public health and economic problem all over the world. The disease is endemic in many parts of the world. Reports on the species and strains of Echinococcus present in Egypt appear controversial. In the present study hydatid cysts were collected from freshly slaughtered camel at local abattoir, Assiut, Egypt. Hydatid cysts were genetically characterized by polymerase chain reaction [PCR] amplification and sequencing of internal transcribed spacer genes one and two [ITS1 and ITS2] of nuclear ribosomal DNA [rDNA] by using specific primers. The lengths of ITS1 and ITS2 sequences were 583 bp and 517 bp respectively for hydatid sample sequenced. Comparisons of ITS sequences of the examined hydatid sample in the present study revealed that collected hydatid represented Echinococcus Canadensis, which provides foundation for further studies on Echinococcus in Egypt. The data obtained will facilitate the development of diagnostic tools necessary to study the population genetic structure and epidemiology of this enigmatic parasite


Subject(s)
Humans , Echinococcosis/genetics , DNA Barcoding, Taxonomic/statistics & numerical data , Genes/genetics , Camelus/parasitology , Zoonoses/genetics , Polymerase Chain Reaction/statistics & numerical data , Phylogeny
10.
Arq. bras. med. vet. zootec ; 65(5): 1519-1526, out. 2013. ilus, graf, tab
Article in Portuguese | LILACS | ID: lil-689772

ABSTRACT

Foi proposta uma metodologia para avaliação genética de curvas de crescimento considerando-se informações de marcadores SNPs (Single Nucleotide Polymorphisms). Em um primeiro passo foram ajustados modelos de crescimento não lineares (logístico) aos dados de peso-idade de cada animal, e em um segundo passo as estimativas dos parâmetros de tais modelos foram consideradas como fenótipos em um modelo de regressão (LASSO Bayesiano - BL) cujas covariáveis foram os genótipos dos marcadores SNPs. Este enfoque possibilitou estimar os valores genéticos genômicos (GBV) para peso em qualquer tempo da trajetória de crescimento, refletindo na confecção de curvas de crescimento genômicas, as quais permitiram a identificação de grupos de indivíduos geneticamente superiores em relação à eficiência de crescimento. Os dados simulados utilizados neste estudo foram constituídos de 2000 indivíduos (1000 na população de treinamento e 1000 na população de validação) contendo 453 marcadores SNPs distribuídos sobre cinco cromossomos. Os resultados indicaram a alta eficiência do método BL em predizer GBVs da população de validação com base na população de treinamento (coeficientes de correlação variaram entre 0,79 e 0,93), bem como a alta eficiência na detecção de QTLs, uma vez que os marcadores com maiores efeitos estimados encontravam-se em posições dos cromossomos próximas àquelas nas quais se encontravam os verdadeiros QTLs postulados na simulação.


A methodology was proposed for the genetic evaluation of growth curves considering SNP (Single Nucleotide Polymorphisms) markers. At the first step, nonlinear regression growth models (Logistic) were fitted to the weight-age of each animal, and on second step the parameter estimates of the Logistic model were used as phenotype in a regression model (Bayesian LASSO - BL) which covariates were given by SNP genotypes. This approach allows the estimation of GBV (Genomic Breeding Values) for weight at either time of growth trajectory, allowing also the production of genomic growth curves, which selected groups of individuals with larger growth efficiency. The simulated data set was constituted of 2,000 individuals (being 1,000 in the training and 1,000 in the validation population) each one with 453 SNP markers distributed along 5 chromosomes. The results indicated high efficiency of the BL method to predict GBV in the validation population using information from the training population (correlation coefficients varying between 0.79 and 0.93). The BL also presented high efficiency to detect QTL, once the most expressive estimated SNP effects were located at positions closed to true QTL position fixed in the simulation.


Subject(s)
Animals , Polymorphism, Single Nucleotide/physiology , Polymorphism, Single Nucleotide/genetics , Genomic Imprinting , Genes/genetics
11.
Arq. bras. med. vet. zootec ; 65(4): 1005-1009, Aug. 2013. ilus, graf, tab
Article in Portuguese | LILACS | ID: lil-684454

ABSTRACT

Um total de 127 cepas de Escherichia coli foi isolado de suínos no Distrito Federal, testado para a presença de genes de enterotoxinas (STa, LT-I, LT-II, Stx1 e Stx2) e para resistência antimicrobiana. Das cepas isoladas, oito (6,3%) possuíam genes para enterotoxinas, sendo quatro (3,2%) positivas somente para LT-I, três (2,4%) somente para STa e uma (0,8%) positiva para STa e LT-I. Nenhuma das cepas isoladas apresentou genes para LT-II, Stx1 ou Stx2. Quanto ao perfil de resistência antimicrobiano, os antibióticos com maiores porcentagens de resistência foram lincomicina (100%), sulfonamidas (74,8%) e tetraciclina (70,1%), enquanto os maiores índices de sensibilidade foram observados na norfloxacina (82,7%), gentamicina (75,6%) e sulfametoxazol + trimetoprim (63%). Esses resultados demonstraram a presença de genes de enterotoxinas e altas taxas de resistência antimicrobiana em E. coli isoladas de suínos hígidos no DF.


A total of 127 strains of Escherichia coli were isolated from swines in Distrito Federal, Brazil, tested for enterotoxin genes (STa, LT-I, LT-II, Stx1 and Stx2) and for antimicrobial resistance. Eight strains (6.3%) had enterotoxin genes, of which four (3.2%) were positive only for LT-I, three (2.4%) positive only for STa and one (0.8%) positive for STa and LT-I. There were no positive strains for LT-II, Stx1 or Stx2. When antimicrobial resistance was analyzed, the most resistant antibiotics were Lincomycin (100%), Sulfonamide (74.8%) and Tetracycline (70.1%), and the most sensitive antimicrobials were Norfloxacin (82.7%), Gentamicin (75.6%) and Sulfamethoxazole + Trimethoprim (63%). These results demonstrated the presence of enterotoxin genes and high numbers of antimicrobial resistance of E. coli strains isolated from healthy swines in Distrito Federal.


Subject(s)
Animals , Anti-Infective Agents/pharmacology , Escherichia coli/pathogenicity , Genes/genetics , Swine/classification
12.
Article in English | IMSEAR | ID: sea-144795

ABSTRACT

Background & objectives: Mutations in the oncogene and tumour suppressor genes play an important role in carcinogenesis. We investigated the association of p53 and K-ras gene mutation and Helicobacter pylori infection in patients with gastric cancer (GC) and peptic ulcer disease (PUD) attending a tertiary care hospital in north India. Methods: In total, 348 adult patients [62 GC, 45 PUD and 241 non-ulcer dyspepsia (NUD)] who underwent an upper gastrointestinal endoscopy were enrolled. H. pylori infection was diagnosed by rapid urease test, culture, histopathology and PCR. Mutation in the exon 5-8 of p53 gene was analyzed by PCR-single stranded conformational polymorphism (SSCP) and confirmed by sequence analysis. K-ras gene codon 12 mutation was analyzed by PCR-based restriction fragment length polymorphism. Results: Overall p53 gene mutation was found in 4.6 per cent of the study population, and its distribution in GC, PUD and NUD was 21, 4.4 and 0.4 per cent, respectively. p53 gene mutation was significantly higher in patients with GC than PUD (P<0.05) and NUD (P<0.001). No difference in p53 gene mutation was observed between H. pylori infected and non-infected individuals. K-ras gene mutation was absent in all the patients. Interpretation & conclusions: Our results show that p53 gene mutation may be associated with gastric carcinogenesis independent to H. pylori infection and absence of K-ras gene mutation questions its role in the pathogenesis of GC and PUD in Indian patients.


Subject(s)
Genes/genetics , Genes, p53/genetics , Genes, ras/genetics , Genes, Tumor Suppressor/genetics , Humans , Helicobacter pylori/pathogenicity , India , Infections , Peptic Ulcer , Tertiary Care Centers , Stomach Neoplasms , Oncogenes/genetics , Humans , Mutation
13.
Arq. ciênc. vet. zool. UNIPAR ; 15(1)jan-jun. 2012.
Article in Portuguese | LILACS | ID: lil-681430

ABSTRACT

A mastite é a doença mais importante do gado leiteiro, pois acarreta grandes prejuízos devido a perda da produção, gastos com serviços veterinários e medicamentos. Sua etiologia é diversificada, porém as bactérias são as maiores causadoras da doença, principalmente o Staphylococcus aureus, caracterizando uma mastite contagiosa. A doença causa problemas a saúde pública devido aos resíduos de antibióticos, bactérias e suas toxinas que podem ser eliminadas no leite, além dos prejuízos para a indústria de laticíneos. Para diminuir taxas de infecção e prevenir novas infecções são utilizados antibióticos, tanto no período de lactação, quando necessário, ou no período seco, onde acabam sendo utilizados sem prévia cultura microbiológica e antibiograma. Atualmente são detectados estirpes de Staphylococcus aureus multirresistentes, tanto em ambiente hospitalar (HA-MRSA) como na comunidade (CA-MRSA). A resistência aos antibióticos é expressa devido a mutações de seus genes ou por meio da aquisição de genes de resistência de outras bactérias, da mesma espécie ou não. Inúmeros trabalhos vêm sendo desenvolvidos para caracterizar os fatores de patogenicidade destes dois tipos de estirpes, no intuito de mapear e rastrear as infecções em humanos e animais. Em humanos, a pesquisa do gene mecA e o estudo do perfil de resistência aos antimicrobianos em cepas de S. aureus vêm sendo amplamente utilizados para estudos epidemiológicos d casos de infecção. Com a epidemiologia molecular dos genes de resistência é possível distinguir a transferência horizontal da disseminação clonal de resistência bacteriana. Dessa forma, uma abordagem voltada a saúde pública, faz-se necessária e oportuna.


Mastitis is the most important diseasesin milk cattle because it causes great disadvantages due to the production loss, expenses with medical service and remedy. Its etiology is diversified, but bacteria are the most common cause of the disease, especially Staphylococcus aureus, characterizing contagious mastitis. The disease causes problems to Public Health bacauseof the residual part of antibiotics, bacteria and toxins that can be eliminated in the milk, besides the loss caused to dairy industries. To reduce infection ratios and prevent new infection, antibiotics are used in the lactation period, whenever they are necessary, or in the dry period, when they are utilized without previous microbiological culture or antibiogram. Currently, there are detected bloodlines of Staphylococcus aureus that are multiresistant in hospital environment (HA-MRSA) as well as in the community (CA-MRSA). The resistance to antibiotics happen because of genic mutations or the acquisition of resistant genes from other bacteria, from the same species or not. Countless papers are being developed to characterize the pathogenic factors of these two kinds of bloodlines,aiming to map and keep track of the infections in humans and animals. For humans, the genic research of mecA and the profile studies of the resistance to the antimicrobiotics on S. aureus strains are being largely used to epidemiological studies in case of infection. With molecular epidemiology of resistant gens, it is possible to distinguish the horizontal transference of the clonal dissemination of the bacterial resistance. Therefore, an approach towards public health shows itself is necessary and favorable.


La mastitis es la enfermedad más importante del ganado lechero, causa daños importantes debido a la pérdida de producción, costos con servicios veterinarios y medicamentos. Su etiología es variada, pero las bacterias son las mayores causadoras de la enfermedad, especialmente Staphylococcus aureus, caracterizando mastitis contagiosa. La enfermedad causa problemas de salud pública debido a los residuos de antibióticos, las bacterias y sus toxinas pueden ser eliminadas en la leche, además del daño para la industria de lácteos. Para reducir las tasas de infección y prevenir nuevas infecciones son utilizados antibióticos, tanto en el período de lactancia, cuando sea necesario, o en la estación seca, que terminan siendo utilizados sin previa cultura microbiológica y antibiograma. Actualmente se detectan cepas multirresistentes de Staphylococcus saureus, tanto en ambiente hospitalario (HA-MRSA) como en la comunidad (CA-MRSA). La resistencia a los antibióticos se expresa debido a mutaciones de sus genes o mediante la adquisición de genes de resistencia de otras bacterias, de la misma especie o no. Innúmeros trabajos se han realizado para caracterizar los factores de patogenicidad de estos dos tipos de cepas, con el fin de mapear y rastrear las infecciones en humanos y animales. En humanos, la investigación del gene meca y el estudio del perfil de resistencia antimicrobiana en cepas de S. aureus han sido ampliamente utilizados para estudios epidemiológicos de casos de infección. Con la epidemiología molecular de los genes de resistencia es posible distinguir la transferencia horizontal de propagación clonal de resistencia bacteriana. Así, un enfoque centrado en la salud pública se hace necesario y oportuno.


Subject(s)
Animals , Anti-Bacterial Agents/pharmacology , Mastitis, Bovine/pathology , Staphylococcus/pathogenicity , Cattle/classification , Genes/genetics
15.
Fisioter. Bras ; 13(2): 133-136, Mar.-Abr.2012.
Article in Portuguese | LILACS | ID: lil-764307

ABSTRACT

A Síndrome de Pallister-Killian (SPK) é uma doença genética rara, que acarreta muitas alterações no desenvolvimento neuropsicomotor.O presente estudo teve como objetivo contribuir para o conhecimento e tratamento fisioterapêutico da SPK. Tratou-se de um estudo de caso de uma paciente de 15 anos, acompanhada na Clínica de Fisioterapia da Faculdade Anhanguera de Campinas.Foi realizada uma avaliação fisioterapêutica da paciente, e aplicadoum questionário à mãe para colher informações sobre o períodopré-natal, perinatal e pós-natal. Os resultados mostraram fáciescaracterística, retardo mental, falta de linguagem, sensibilidadepreservada, hipotonia generalizada, ausência de alguns reflexos,deformidades ósseas nos pés e marcha independente como funçãomais alta. Dentre as alterações encontradas, cabe destacar o retardomental, que dificulta o processo de desenvolvimento e reabilitação.


The Pallister-Killian Syndrome (PKS) is a rare genetic disease impairing the neurological development. This study aimed to contribute for knowledge and physical therapy of PKS. It was a casereport of a 15 years old patient, attended at Clínica de Fisioterapia daFaculdade Anhanguera de Campinas. It was done a physical therapyevaluation of the patient and her mother answered a questionnaireasking information on the prenatal, perinatal and postnatal periods.The results showed face characteristics, mental retardation, lack of language abilities, preserved sensation, generalized hypotonic, someabsence of reflexes absence, feet bones deformities and independentmarch as the most achieved function. Among the anomalies diagnosed,it is necessary to highlight the mental retardation, which complicates both development and rehabilitation processes.


Subject(s)
Physical Therapy Modalities/methods , Pediatrics/methods , Tetrasomy/genetics , Genes/genetics
16.
Rev. colomb. psiquiatr ; 41(2): 249-272, abr.-jun. 2012. tab
Article in Spanish | LILACS | ID: lil-659483

ABSTRACT

Introducción: El gen NOS1AP codifica para la proteína adaptadora de óxido nítrico sintasa neuronal 1, que posiblemente está implicada en la etiopatogénesis de la esquizofrenia. Objetivos: Determinar si existe asociación de variantes en el gen NOS1AP con esquizofrenia y si estas variantes tienen relación con las dimensiones clínicas del trastorno en población colombiana. Metodología: Es un estudio de casos y controles, con 255 sujetos por grupo. Se tipificaron marcadores dentro del gen NOS1AP y otros informativos de origen genético, con el fin de ajustar por estratificación de la población. Se hizo un análisis factorial de componentes principales de cada uno de los ítems de las escalas de evaluación de síntomas negativos (SANS) y de síntomas positivos (SAPS) para determinar las dimensiones clínicas. Posteriormente, se evaluó la asociación de las variantes genéticas con la esquizofrenia y con cada una de las dimensiones. Resultados: Se encontró asociación entre el genotipo C/C del marcador rs945713 con esquizofrenia (OR = 1,79, IC95%: 1,13-2,84). El genotipo C/C de rs945713 se asoció con puntuaciones más altas en la dimensión “aplanamiento afectivo y alogia” y el genotipo A/A del marcador rs4657181 se relacionó con puntuaciones más bajas en esa misma dimensión. Conclusiones: Se encontró asociación significativa de marcadores dentro de NOS1AP con esquizofrenia y la dimensión clínica “aplanamiento afectivo y alogia”. Estos resultados son consistentes con estudios previos y apoyan la posibilidad de que NOS1AP influya en la susceptibilidad a esquizofrenia y que sea un modificador de sus características clínicas…


Introduction: The nitric oxide synthase 1 adaptor protein (NOS1AP) gene is possibly implicated in schizophrenia etiopathogenesis. Objective: To determine the association of NOS1AP gene variants with schizophrenia and the relationship of variants with the clinical dimensions of the disorder in the Colombian population. Methodology: It is a case-control study with 255 subjects per group. Markers within the NOS1AP gene were typified as well as other informative material of genetic origin so as to adjust by population stratification. A factorial analysis of the main components for each item in the Scales for Evaluating Negative Symptoms (SENS) together with the Scales for Evaluating Positive Symptoms (SEPS) to determine clinical dimensions. Results: Association between the C/C genotype of the rs945713 marker with schizophrenia (OR = 1.79, 95% CI: 1.13 – 2.84) was found. The C/C genotype of the rs945713 was related to higher scores in the “affective flattening and alogia” dimension; and the A/A genotype of the rs4657181 marker was associated to lower scores in the same dimension. Conclusions: Significant associations of markers inside the NOS1AP gene with schizophrenia and the “affective flattening and alogia” clinical dimension were found. These results are consistent with previous studies and support the possibility that NOS1AP influences schizophrenia susceptibility. Furthermore, NOS1AP might be a modifier of schizophrenia clinical characteristics…


Subject(s)
Genes , Genes/genetics , Schizophrenia
18.
Rev. argent. ultrason ; 10(1): 19-20, mar. 2011.
Article in Spanish | LILACS | ID: lil-585494

ABSTRACT

A menudo se atribuye a Conrad Waddington (1905-1975) la acuñación del término epigenética en el año 1942 como la rama de la biología que estudia las interacciones causales entre los genes y sus productos que dan lugar al fenotipo. El campo de la epigenética intenta determinar cómo afectan a la función genómica, los mecanismos que regulan la manera en que los genes son procesados. Los factores epigenéticos incluyen tanto patrones espaciales, como la organización del ADN alrededor de las proteínas histónicas (cromatina), como la marcación bioquímica...


Subject(s)
Base Sequence , Genomics , Genes/genetics , Genetics, Medical/instrumentation , Genetics, Medical/methods , Genetics, Medical/trends
19.
Neotrop. ichthyol ; 9(1): 107-112, Mar. 2011. ilus
Article in English | LILACS | ID: lil-583960

ABSTRACT

This study reports the description of the karyotype of Mugil incilis from Venezuela. The chromosome complement is composed of 48 acrocentric chromosomes, which uniformly decrease in size. Therefore, the homologues can not be clearly identified, with the exception of one of the largest chromosome pairs, classified as number 1, whose homologues may show a subcentromeric secondary constriction, and of chromosome pair number 24, which is considerably smaller than the others. C-banding showed heterochromatic blocks at the centromeric/pericentromeric regions of all chromosomes, which were more conspicuous on chromosomes 1, given the C-positive signals include the secondary constrictions. AgNO3 and fluorescent in situ hybridization (FISH) with 45S rDNA demonstrated that the nucleolus organizer regions are indeed located on the secondary constrictions of chromosome pair number 1. FISH with 5S rDNA revealed that the minor ribosomal genes are located on this same chromosome pair, near the NORs, though signals are closer to the centromeres and of smaller size, compared to those of the major ribosomal gene clusters. This is the first description of co-localization of major and minor ribosomal genes in the family. Data are discussed from a cytotaxonomic and phylogenetic perspective.


Se presenta la primera descripción del cariotipo de Mugil incilis de Venezuela. El complemento cromosómico está compuesto por 48 cromosomas acrocéntricos uniformemente decrecientes en tamaño. Por lo tanto, los homólogos no pueden ser claramente identificados, con excepción de uno de los pares de mayor tamaño, clasificado como número 1, cuyos homólogos poseen una constricción secundaria subcentromérica, y el par de cromosomas número 24, considerablemente más pequeño que los otros. El bandeo-C reveló bloques heterocromáticos en las regiones centroméricas/pericentroméricas de todos los cromosomas, más conspicuas en el cromosoma 1 en el que las señales C-positivas se encuentra localizada precisamente en la constricción secundaria. La tinción con AgNO3 y la Hibridación Fluorescente in situ (FISH) con sonda 45S rDNA revelaron que las regiones organizadoras del nucléolo están ciertamente localizadas sobre la constricción secundaria del cromosoma número 1. FISH con 5S rDNA reveló que los genes ribosomales menores están ubicados en este mismo par cromosómico, en posición proximal a las NORs, aunque cercanas al centrómero y de menor tamaño en comparación con los clúster de genes ribosomales mayores. Ésta es la primera descripción de co-localización de genes ribosomales mayores y menores en la familia Mugilidae. Los datos se discuten bajo perspectivas citotaxonómicas y filogenéticas.


Subject(s)
Animals , Chromosome Aberrations , Fishes/classification , Genes/genetics , Ribosomes/genetics
20.
Colomb. med ; 41(4): 336-343, oct.-dic. 2010. tab, graf
Article in English | LILACS | ID: lil-573027

ABSTRACT

Introduction: The high polymorphism of the HLA system allows its typification to be used as valuable tool in establishing association to various illnesses, immune and genetic profiles; it also provides a guide to identifying compatibility among donors and receptors of organs transplants. Objective: To establish HLA-A, HLA-B, and HLA.DRB1 allele, genotype and haplotype frequencies among patients treated at Clinica Colsanitas SA. Methods: 561 patients coming from different regions in Colombia, who were attended in 8 centers of the clinical laboratory of the Clinica Colsanitas in different cities of the country from January 2004 to August 2008, were included in this study. All were HLA-A,-B, and -DRB1 typified via SSP PCR. Allele, genotype and haplotype frequencies were estimated with STATA Software Version 9.0 and the GENEPOP genetic analysis package. Results: 19, 28, and 15 different alleles were identified for loci HLA-A,-B and -DRB1, respectively. Alleles found most frequently were A*24 (26.2%), A*02 (26%), B*35(22.7%), and DRB1*04 (24%). The most frequent genotypes were A*02,24 (14.2%), B*07,35 (5.5%), DRB1*01,04, and DRB1*04,04 (6.9%); while most the frequent haplotypes were HLA A*24, B*35 (9.2%), A*24, DRB1*04 (8.1%); B*35, DRB1*04 (7.8%), A*2 DRB1*04 (7.4%). Conclusion: The results obtained provide a useful reference framework for the population studied, allowing compatibility probability calculations to be performed for organ transplants.


Introducción: El alto polimorfismo del sistema HLA, hace que su tipificación sea una herramienta de gran valor al establecer asociación con diferentes enfermedades, patrones inmunológicos, antropogenéticos, así como para establecer probabilidades de encontrar donantes compatibles con receptores de diferentes tipos de trasplante de órganos. Objetivo: Establecer las frecuencias alélicas, genotípicas y haplotípicas en pacientes atendidos en la Clínica Colsanitas SA. Metodología: Se incluyeron un total de 561 pacientes atendidos en el Laboratorio Clínico de La Clínica Colsanitas SA, en 8 sedes en diferentes ciudades del Colombia, durante el período comprendido entre enero de 2004 a agosto de 2008. Se realizó tipificación de HLA -A,-B,-DRB1 por PCR SSP. Las frecuencias alélicas, genotípicas y haplotípicas fueron estimadas mediante el paquete estadístico Stata y el paquete de análisis genético Genepop. Resultados: Fue posible la identificación de 19, 28 y 15 alelos de los loci HLA A-B-DRB1 respectivamente, de los cuales los más frecuentes fueron A*24 (26.2%), A*02 (26%), B*35 (22.7%), DRB1*04 (24%). Los genotipos más frecuentes encontrados fueron A*02,24 (14.2%), B*07,35 (5.5%), DRB1*01,04 y DRB1*04,04 (6.9%). Los haplotipos más frecuentes fueron: HLA A*24, B*35 (9.2%), A*24, DRB1*04 (8.1%); B* 35, DRB1*04 (7.8%), A*2 DRB1*04 (7.4%). Conclusión: Los resultados obtenidos permiten tener referencia para aplicaciones en la población estudiada, así como para establecer probabilidades de compatibilidad en la creciente área de trasplante de órganos.


Subject(s)
Humans , Alleles , Genotype , Genes/genetics , Histocompatibility Testing , Immunity/genetics
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