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1.
Braz. J. Psychiatry (São Paulo, 1999, Impr.) ; 38(1): 17-23, Jan.-Mar. 2016. tab
Article in English | LILACS | ID: lil-776495

ABSTRACT

Objective: In obsessive-compulsive disorder (OCD), symmetry-related symptoms may be important. Although clinical correlates of symmetry-related symptoms have been identified in OCD, few data exist on genetic associations. Animal studies indicate involvement of dopamine in symmetry-related behavior, suggesting this may be relevant to analogous symptoms in OCD. Alterations in dopamine may also reflect environmental influences. However, the association of symmetry-related symptomatology, early adversity, and polymorphisms in dopaminergic genes has not been investigated in OCD. Methods: Clinical information and polymorphisms in key dopaminergic genes were compared between OCD patients with primary symmetry symptoms and those without. Results: OCD patients with primary symmetry symptoms comprised 46.6% (n=210) of the sample (n=451), and were older (p < 0.01), had longer illness duration (p < 0.01), higher OCD severity scores (p = 0.01), and greater comorbidity (p < 0.01) than those without. In Caucasians (n=343), genotype frequency differed significantly between groups for ANKK1 rs1800497, with more OCD patients with symmetry symptoms being homozygous for the A2 (CC) genotype (χ2 = 7.296; p = 0.026). Conclusion: Symmetry symptoms have some distinct clinical features and may represent a marker of severity in OCD. However, clinical associations, in combination with the association found with the ANKK1 rs1800497 A2 variant, suggest that primary symmetry symptoms may represent a distinctive clinical and psychobiological profile.


Subject(s)
Humans , Male , Female , Adolescent , Adult , Young Adult , Dopamine/genetics , Obsessive-Compulsive Disorder/diagnosis , Obsessive-Compulsive Disorder/genetics , Polymorphism, Genetic/genetics , Stress Disorders, Post-Traumatic/complications , Severity of Illness Index , Protein Serine-Threonine Kinases/genetics , Tandem Repeat Sequences/genetics , Depressive Disorder, Major/complications , Perfectionism , Genotype , Middle Aged , Obsessive-Compulsive Disorder/complications
2.
Mem. Inst. Oswaldo Cruz ; 109(6): 814-819, 09/09/2014. tab, graf
Article in English | LILACS | ID: lil-723983

ABSTRACT

The characteristics of tuberculosis (TB) patients related to a chain of recent TB transmissions were investigated. Mycobacterium tuberculosis (MTB) isolates (120) were genotyped using the restriction fragment length polymorphism-IS6110 (R), spacer oligotyping (S) and mycobacterial interspersed repetitive units-variable number of tandem repeats (M) methods. The MTB isolates were clustered and the clusters were grouped according to the similarities of their genotypes. Spearman’s rank correlation coefficients between the groups of MTB isolates with similar genotypes and those patient characteristics indicating a risk for a pulmonary TB (PTB) chain transmission were ana- lysed. The isolates showing similar genotypes were distributed as follows: SMR (5%), SM (12.5%), SR (1.67%), MR (0%), S (46.67%), M (5%) and R (0%). The remaining 35 cases were orphans. SMR exhibited a significant correlation (p < 0.05) with visits to clinics, municipalities and comorbidities (primarily diabetes mellitus). S correlated with drug consumption and M with comorbidities. SMR is needed to identify a social network in metropolitan areas for PTB transmission and S and M are able to detect risk factors as secondary components of a transmission chain of TB.


Subject(s)
Adolescent , Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Young Adult , Genotyping Techniques/methods , Mycobacterium tuberculosis/genetics , Tuberculosis, Pulmonary/microbiology , Tuberculosis, Pulmonary/transmission , Cities , Comorbidity , DNA, Bacterial/isolation & purification , Genotype , Interspersed Repetitive Sequences/genetics , Microbial Sensitivity Tests , Mexico/epidemiology , Molecular Epidemiology/methods , Mycobacterium tuberculosis/classification , Mycobacterium tuberculosis/isolation & purification , Polymorphism, Restriction Fragment Length/genetics , Risk Factors , Sociological Factors , Statistics, Nonparametric , Tandem Repeat Sequences/genetics , Tuberculosis, Pulmonary/epidemiology , Tuberculosis, Pulmonary/genetics , Urban Population
3.
Mem. Inst. Oswaldo Cruz ; 109(2): 163-167, abr. 2014. tab
Article in English | LILACS | ID: lil-705823

ABSTRACT

Leptospirosis is the most widespread zoonosis in the world and significant efforts have been made to determine and classify pathogenic Leptospira strains. This zoonosis is maintained in nature through chronic renal infections of carrier animals, with rodents and other small mammals serving as the most important reservoirs. Additionally, domestic animals, such as livestock and dogs, are significant sources of human infection. In this study, a multiple-locus variable-number tandem repeat analysis (MLVA) was applied to genotype 22 pathogenic Leptospira strains isolated from urban and periurban rodent populations from different regions of Argentina. Three MLVA profiles were identified in strains belonging to the species Leptospira interrogans (serovars Icterohaemorrhagiae and Canicola); one profile was observed in serovar Icterohaemorrhagiae and two MLVA profiles were observed in isolates of serovars Canicola and Portlandvere. All strains belonging to Leptospira borgpetersenii serovar Castellonis exhibited the same MLVA profile. Four different genotypes were isolated from urban populations of rodents, including both mice and rats and two different genotypes were isolated from periurban populations.


Subject(s)
Animals , Mice , Rats , Leptospira/genetics , Rodentia/microbiology , Argentina , Didelphis/microbiology , Genotype , Genotyping Techniques/methods , Leptospira interrogans serovar canicola/genetics , Leptospira interrogans serovar icterohaemorrhagiae/genetics , Leptospira interrogans serovar pomona/genetics , Leptospira/classification , Leptospira/isolation & purification , Leptospirosis/transmission , Serogroup , Serotyping , Tandem Repeat Sequences/genetics , Urban Population , Virulence/genetics
4.
Rev. cuba. inform. méd ; 5(1)ene.-jun. 2013.
Article in Spanish | LILACS, CUMED | ID: lil-739227

ABSTRACT

Las secuencias repetidas en tándem, específicamente los mini y micro satélites, han demostrado ser muy eficaces en la clasificación de bacterias patogénicas como B. anthracis, M. tuberculosis y P. aeruginosa, entre otras. En humanos es manifiesta su participación estando relacionados con más de ochenta enfermedades, gran parte de ellas de tipo neurodegenerativas, musculares y algunos tipos de cáncer. La herramienta web que presentamos es el resultado de la detección computacional de estas secuencias en genomas bacterianos completos y su correspondiente anotación en la estructura genómica de acuerdo a las diferentes regiones donde estos se localizan. La herramienta tiene como fin primario brindar un sistema relacional que permita al investigador ubicar los microsatélites de diferentes especies bacterianas, con más de un genoma secuenciado para inferir su posible carácter polimórfico, dentro del contexto de la estructura genómica y así proveer un primer acercamiento al rol putativo que los microsatélites desempeñan desde el punto de vista funcional. La herramienta se puede aplicar no solo en estudios taxonómicos y epidemiológicos sino en la detección de posibles relaciones de estas secuencias con las funciones moleculares, procesos biológicos y, en última instancia, las diversas formas de evolución de estas especies. El sitio web brinda el servicio de consultas a la base de datos de microsatélites bacterianos de acuerdo al sistema de tablas relacionales y atributos propios de las mismas. Cuenta además con los servicios típicos de un sitio con estas características como: sistema de autenticación, foro, encuestas, enlaces y documentación sobre la metodología empleada y del tema en cuestión(AU)


The tandem repeat sequences, especially mini and microsatellites, have proven to be very effective in classification of pathogenic bacteria such as B. anthracis, M. tuberculosis and P. aeruginosa, among others. In human beings it is manifest its participation, being related with over eighty diseases, nearly all neurodegenerative and muscular, and some kinds of cancer. The web tool we are offering here is the result of computational detection of these sequences in whole bacteria genomes, and its respective annotation in the genomic structure according to the different regions where they are localized. The primary goal of this tool is to offer a relational system that allows mapping the microsatellites of bacterial species, all of them with more than one genome sequenced to infer their possible polymorphic character, in the context of genomic structure and thus providing a first approach to the putative role they perform from the functional point of view. The tool can be applied not only in taxonomical and epidemiological studies but in the detection of possible relationships of these sequences with the molecular functions, the biological processes and, as a last resort, the different forms of these species evolution. The web site offers the service of queries to the bacterial microsatellites database according to the related tables and its inherent attributes. It also has the typical services of this kind of site like: logging system, forum, polls, links and documentation about the employed methodology and the topic(AU)


Subject(s)
Humans , Bacteria , Microsatellite Repeats/genetics , Tandem Repeat Sequences/genetics , Databases, Genetic
5.
Clinics ; 68(6): 785-791, jun. 2013. tab
Article in English | LILACS | ID: lil-676928

ABSTRACT

OBJECTIVE: To investigate the influence of (CA)n repeats in the insulin-like growth factor 1 gene and a variable number of tandem repeats of the insulin gene on birth size in children who are small or adequate-sized for gestational age and to correlate these polymorphisms with serum insulin-like growth factor 1 levels and insulin sensitivity in children who are small for gestational age, with and without catch-up growth. PATIENTS AND METHODS: We evaluated 439 infants: 297 that were adequate-sized for gestational age and 142 that were small for gestational age (66 with and 76 without catch-up). The number of (CA)n repeat in the insulin-like growth factor 1 gene and a variable number of tandem repeats in the insulin gene were analyzed using GENESCAN software and polymerase chain reaction followed by enzymatic digestion, respectively. Clinical and laboratory data were obtained from all patients. RESULTS: The height, body mass index, paternal height, target height and insulin-like growth factor 1 serum levels were higher in children who were small for gestational age with catch-up. There was no difference in the allelic and genotypic distributions of both polymorphisms between the adequate-sized and small infants or among small infants with and without catch-up. Similarly, the polymorphisms were not associated with clinical or laboratory variables. CONCLUSION: Polymorphisms of the (CA)n repeats of the insulin-like growth factor 1 gene and a variable number of tandem repeats of the insulin gene, separately or in combination, did not influence pre- or postnatal growth, insulin-like growth factor 1 serum levels or insulin resistance. .


Subject(s)
Female , Humans , Infant, Newborn , Male , Infant, Small for Gestational Age , Insulin-Like Growth Factor I/genetics , Insulin/genetics , Polymorphism, Genetic , Tandem Repeat Sequences/genetics , Adenosine , Brazil , Birth Weight/genetics , Blood Glucose/genetics , Body Height/genetics , Body Weight/genetics , Cytosine , Insulin Resistance/genetics , Insulin-Like Growth Factor I/analysis , Risk Factors
6.
Braz. j. vet. res. anim. sci ; 50(5): 406-413, 2013. tab
Article in English | LILACS | ID: lil-789892

ABSTRACT

The aim of this study was to evaluate genetic diversity of nine molecular markers, six short tandem repeats - STRs (BM4325, BMS3004, ILSTS002, IDVGA51, HEL5, AFZ1) and three single nucleotide polymorphisms (SNPs; LepSau3A1 A-B, LepSau3A1 1-2, and FSHRAlu1), linked to genes involved in reproductive function and their possible effect on reproductive performance. For this purpose, 81 crossbred beef cows were used in this study. The animals were classified into two groups (fertile and sub-fertile cows) based on their pregnancy status after two breeding seasons. High genetic diversity level was observed highlighted by the polymorphic content information ranging 0.23 to 0.87 and expected heterozygosity from 27 to 89%, with an average of 62%. Alleles BM4325 103, BMS3004 129, ILSTS002 137, IDVGA51 177, LEPSau3A1 A, LEPSau3A1 1, HEL5 149, AFZ1 119 and FSHRAlu1 G presented high frequencies. Two STRs (IDVGA51 and ILSTS002), linked to Leptin and LH genes, respectively, were associated to reproductive performance. These data support previous findings suggesting the potential use of IDVGA51 and ILSTS002 STRs for reproductive performance selection.


Foi avaliada a diversidade genética de nove marcadores moleculares, dos quais seis do tipo short tandem repeats - STR (BM4325, BMS3004, ILSTS002, IDVGA51, HEL5, AFZ1) e três do tipo single nucleotide polymorphisms - SNPs (LepSau3A1 A-B, LepSau3A1 1-2 e FSHRAlu1), ligados a genes envolvidos na reprodução e seus efeitos na performance reprodutiva. Foram examinadas amostras de sangue de 81 vacas sem raça definida, os animais foram classificados em dois grupos (vacas férteis e subférteis) baseado nas taxas de prenhez de duas estações reprodutivas. Alto nível de diversidade genética foi observado, revelando alto conteúdo de informação polimórfica, variando de 0,23 a 0,87 e heterozigosidade esperada de 27 a 89% com 62% em média. Os alelos mais frequentes foram BM4325 103*, BMS3004 129*, ILSTS002 137*, IDVGA51 177*, LEPSau3A1 A, LEPSau3A1 1, HEL5 149*, AFZ1 119* e FSHRAlu1 G. Os marcadores IDVGA51 e ILSTS002, ligados aos genes da leptina e LH, respectivamente, foram associados a performance reprodutiva. Esses dados suportam achados prévios que sugerem o potencial uso desses marcadores na seleção de animais com maior performance reprodutiva.


Subject(s)
Animals , Female , Pregnancy , Cattle , Luteinizing Hormone, beta Subunit/genetics , Leptin/genetics , Polymorphism, Single Nucleotide/genetics , Tandem Repeat Sequences/genetics , Genetic Variation/genetics , Reproductive Techniques, Assisted/veterinary
7.
Mem. Inst. Oswaldo Cruz ; 107(1): 64-73, Feb. 2012. mapas, tab
Article in English | LILACS | ID: lil-612807

ABSTRACT

We performed spoligotyping and 12-mycobacterial interspersed repetitive unit-variable number tandem repeats (MIRU-VNTRs) typing to characterise Mycobacterium bovis isolates collected from tissue samples of bovines with lesions suggestive for tuberculosis during slaughter inspection procedures in abattoirs in Brazil. High-quality genotypes were obtained with both procedures for 61 isolates that were obtained from 185 bovine tissue samples and all of these isolates were identified as M. bovis by conventional identification procedures. On the basis of the spoligotyping, 53 isolates were grouped into nine clusters and the remaining eight isolates were unique types, resulting in 17 spoligotypes. The majority of the Brazilian M. bovis isolates displayed spoligotype patterns that have been previously observed in strains isolated from cattle in other countries. MIRU-VNTR typing produced 16 distinct genotypes, with 53 isolates forming eight of the groups, and individual isolates with unique VNTR profiles forming the remaining eight groups. The allelic diversity of each VNTR locus was calculated and only two of the 12-MIRU-VNTR loci presented scores with either a moderate (0.4, MIRU16) or high (0.6, MIRU26) discriminatory index (h). Both typing methods produced similar discriminatory indexes (spoligotyping h = 0.85; MIRU-VNTR h = 0.86) and the combination of the two methods increased the h value to 0.94, resulting in 29 distinct patterns. These results confirm that spoligotyping and VNTR analysis are valuable tools for studying the molecular epidemiology of M. bovis infections in Brazil.


Subject(s)
Animals , Cattle , Bacterial Typing Techniques/methods , Genetic Variation/genetics , Mycobacterium bovis/genetics , Tandem Repeat Sequences/genetics , Alleles , DNA, Bacterial/genetics , Genotype , Mycobacterium bovis/classification , Mycobacterium bovis/isolation & purification
8.
Article in English | WPRIM | ID: wpr-69769

ABSTRACT

Resistance of Plasmodium spp. to anti-malarial drugs is the primary obstacle in the fight against malaria, and molecular markers for the drug resistance have been applied as an adjunct in the surveillance of the resistance. In this study, we investigated the prevalence of mutations in pvmdr1, pvcrt-o, pvdhfr, and pvdhps genes in temperate-zone P. vivax parasites from central China. A total of 26 isolates were selected, including 8 which were previously shown to have a lower susceptibility to chloroquine in vitro. For pvmdr1, pvcrt-o, and pvdhps genes, no resistance-conferring mutations were discovered. However, a highly prevalent (69.2%), single-point mutation (S117N) was found in pvdhfr gene. In addition, tandem repeat polymorphisms existed in pvdhfr and pvdhps genes, which warranted further studies in relation to the parasite resistance to antifolate drugs. The study further suggests that P. vivax populations in central China may still be relatively susceptible to chloroquine and sulfadoxine-pyrimethamine.


Subject(s)
Antimalarials/pharmacology , China , Chloroquine/pharmacology , DNA, Protozoan/chemistry , Drug Resistance/genetics , Folic Acid Antagonists/pharmacology , Genotype , Humans , Malaria, Vivax/epidemiology , Plasmodium vivax/drug effects , Point Mutation , Polymorphism, Single Nucleotide/genetics , Prevalence , Protozoan Proteins/genetics , Sequence Analysis, DNA , Tandem Repeat Sequences/genetics
9.
Säo Paulo med. j ; 127(1): 23-27, Jan. 2009. tab
Article in English | LILACS | ID: lil-513102

ABSTRACT

CONTEXT AND OBJECTIVE: The mechanism involved in leukemogenesis remains unclear and more information about the disruption of the cell proliferation, cell differentiation and apoptosis of neoplastic cells is required. DESIGN AND SETTING: Cross-sectional prevalence study at the Discipline of Hematology, Hospital São Paulo, Universidade Federal de São Paulo. METHODS: We investigated FMS-like tyrosine kinase 3/internal tandem duplication (FLT3/ITD+) in 40 adult patients with de novo acute myeloid leukemia (AML), categorized according to cytogenetic results, from September 2001 to May 2005. RESULTS: Thirteen patients (32.5 percent) were classified as presenting the favorable karyotype, 11 patients (27.5 percent) as an intermediate group, 7 patients (17 percent) as an undefined group and 9 patients (22.5 percent) as the unfavorable group. FLT3/ITD+ was found in 10 patients (25 percent): 3 with FLT3/ITD+ and favorable karyotype; 4 with FLT3/ITD+ and intermediate karyotype; 2 with FLT3/ITD+ and undefined karyotype; and only 1 with FLT3/ITD+ and unfavorable karyotype. Among the patients without FLT3/ITD+, 10 presented favorable karyotype, 8 intermediate, 4 undefined and 8 unfavorable karyotype. The cytogenetic results showed no correlations between FLT3/ITD presence and the prognostic groups (P = 0.13). We found that 2 patients were still alive more than 24 months later, FLT3/ITD+ did not influence the patients' survival rate. CONCLUSION: We found the same frequency of AML with FLT3/ITD+ in both the favorable and intermediate prognosis groups. Only one patient presented AML, FLT3/ITD+ and unfavorable karyotype (the hypothetical worst clinical situation). Therefore, the prognostic advantage of favorable cytogenetics among patients with FLT3/ITD+ remains to be elucidated, for it to be better understood.


CONTEXTO E OBJETIVO: O mecanismo envolvido na leucemogênese permanece obscuro, e maiores informações a respeito das inadequadas proliferação, diferenciação e apoptose das células neoplásicas é fundamental. TIPO DE ESTUDO E LOCAL: Estudo transversal de prevalência na Disciplina de Hematologia e Hemoterapia, Hospital São Paulo, Universidade Federal de São Paulo. MÉTODOS: Nós pesquisamos a duplicação interna in tandem (DIT) do gene FLT3 (Fms-like tyrosine kinase) em 40 pacientes adultos com leucemia mielóide aguda (LMA) de novo, classificados de acordo com os resultados de cariótipo em banda G, de setembro de2001 a maio de 2005. RESULTADOS: Treze pacientes (32,5 por cento) foram classificados como cariótipo favorável, 11 pacientes (27,5 por cento) como grupo intermediário, 7 pacientes (17 por cento) no grupo de prognóstico indefinido e os restantes 9 pacientes (22,5 por cento) foram alocados como desfavorável. A DIT/FLT3 foi encontrada em 10 pacientes (25 por cento), 3 pacientes com DIT/FLT3 e cariótipo favorável, 4 com DIT/FLT3 e cariótipo intermediário, 2 com DIT/FLT3 e cariótipo de prognóstico indefinido e somente 1 paciente com DIT/FLT3 e cariótipo desfavorável. Entre os pacientes sem DIT/FLT3, 10 apresentaram cariótipo favorável, 8 com cariótipo intermediário, 4 com cariótipo de prognóstico indefinido e 8 com cariótipo desfavorável. Não houve correlação entre a presença de DIT/FLT3 e os grupos de prognóstico conforme resultados de citogenética (P = 0,13). No presente estudo encontramos 2 pacientes vivos por mais de 24 meses. A presença de DIT/FLT3 não influenciou a taxa de sobrevida dos pacientes. CONCLUSÃO: Nós observamos a mesma frequência de LMA com DIT/FLT3 tanto no grupo de cariótipo favorável quanto no grupo intermediário e somente um paciente com LMA e DIT/FLT3 e cariótipo desfavorável, hipoteticamente o pior achado clínico. Desta forma, a vantagem prognóstica do cariótipo favorável em pacientes DIT/FLT3 permanece a ser esclarecida ...


Subject(s)
Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Young Adult , Gene Duplication , Leukemia, Myeloid, Acute/genetics , Tandem Repeat Sequences/genetics , /genetics , Cross-Sectional Studies , Karyotyping , Leukemia, Myeloid, Acute/diagnosis , Prognosis , Young Adult
10.
Biol. Res ; 42(4): 497-504, 2009. mapas, tab, graf, ilus
Article in English | LILACS | ID: lil-537109

ABSTRACT

Y chromosomal STRs show sufficient variability among individduals in a population and a high degree of geographical differentiation, such that their polymorphic character makes them especially suited for population genetic studies. To investígate the polymorphism of a set of 17 Y-STR loci in northern China, we genotyped the 17 Y chromosomal STR loci in a population sample of 377 unrelated males from eight ethnic populations in northern China. We calculated the haplotype frequencies, Rst value and carried out the analysis of molecular variance (AMOVA). We then drew the multidimensional scaling analysis (MDS) plot and phylogenetic tree based on the Rst value. All populations showed a high level of haplotype diversity, with low inter-population variance as measured by an analysis of molecular variance. However, the genetic distances were significant when the eight populations were compared to other populations. By MDS and the phylogenetic tree, we found that the eight populations had a close relationship and Xibo had a northeast origination.


Subject(s)
Humans , Male , Chromosomes, Human, Y/genetics , Ethnicity/genetics , Genetics, Population , Polymorphism, Genetic/genetics , Tandem Repeat Sequences/genetics , China/ethnology , Genotype , Haplotypes , Phylogeny
11.
Prensa méd. argent ; 95(5): 291-294, jul. 2008. ilus
Article in Spanish | LILACS | ID: lil-522001

ABSTRACT

Nitric oxide (NO) derived from endothelial Nitric Oxide Synthase enzyme (eNOS) is an important mediator of the vascular function. Various polymorphisms have been described for the eNOS gene that has effects on its expression. One of the most studied markers in the eNOS gen is located in the fourth intron and is characterized by the presence of a variable number of tandemly repeated sequence of 27 base pairs. In this work we report the existence and the sequence of a new variant for these polymorphism and we hypothestize its potential role in the regulation of NO productition by eNOS.


Subject(s)
Humans , Alleles , Coronary Artery Disease/pathology , Genetic Markers , Myocardial Ischemia/physiopathology , MicroRNAs/genetics , Nitric Oxide Synthase Type III/genetics , Polymorphism, Genetic , Tandem Repeat Sequences/genetics
12.
Article in English | IMSEAR | ID: sea-35610

ABSTRACT

Mycobacterium leprae isolates from Thai leprosy patients were typed for strain differentiation and analysis of leprosy transmission using the six base tandem repeat, GACATC, in rpoT gene and TTC repeat as genetic markers. M. leprae DNA was isolated from skin biopsies of new untreated leprosy patients living in remote areas or in suburban regions of Thailand where leprosy is in low prevalence. In M. leprae strains of 100 patients, TTC alleles exhibited variations in length with 10 to 30, 33 and 35 repeats, the most common alleles being 15, 16, 17 and 19 repeats. All isolates contained three copies of the six base repeat in rpoT gene. Application of TTC repeats in tracking leprosy transmission in two families with multi-cases identified a single (but different) strain of M. leprae in each family.


Subject(s)
Biopsy , DNA, Bacterial/genetics , Genes, Bacterial/genetics , Humans , Leprosy/microbiology , Mycobacterium leprae/classification , Polymerase Chain Reaction , Polymorphism, Genetic/genetics , Sequence Analysis, DNA , Skin , Tandem Repeat Sequences/genetics , Thailand
13.
Mem. Inst. Oswaldo Cruz ; 102(4): 473-479, June 2007. ilus
Article in English | LILACS | ID: lil-454799

ABSTRACT

Two allelic genomic fragments containing ribosomal protein S4 encoding genes (rpS4) from Trypanosoma cruzi (CL-Brener strain) were isolated and characterized. One allele comprises two complete tandem repeats of a sequence encoding an rpS4 gene. In the other, only one rpS4 gene is found. Sequence comparison to the accessed data in the genome project database reveals that our two-copy allele corresponds to a variant haplotype. However, the deduced aminoacid sequence of all the gene copies is identical. The rpS4 transcripts processing sites were determined by comparison of genomic sequences with published cDNA data. The obtained sequence data demonstrates that rpS4 genes are expressed in epimastigotes, amastigotes, and trypomastigotes. A recombinant version of rpS4 was found to be an antigenic: it was recognized by 62.5 percent of the individuals with positive serology for T. cruzi and by 93.3 percent of patients with proven chronic chagasic disease.


Subject(s)
Humans , Animals , Chagas Disease/parasitology , Ribosomal Proteins/immunology , Trypanosoma cruzi/genetics , Alleles , Blotting, Northern , Case-Control Studies , Chronic Disease , Cloning, Molecular , DNA, Protozoan/chemistry , Electrophoresis, Gel, Pulsed-Field , Ribosomal Proteins/genetics , Tandem Repeat Sequences/genetics
14.
Article in Korean | WPRIM | ID: wpr-7859

ABSTRACT

BACKGROUND: fms-like tyrosine kinase (FLT3), a member of the class III receptor tyrosine kinases, regulates the proliferation and differentiation of hematopoietic stem cells. An internal tandem duplication of the FLT3 gene (FLT3/ITD) has been reported in acute myelogenous leukemia (AML) and may be associated with a poor prognosis. In this study we determined the prevalence and prognostic significance of FLT3/ITD in adult AML patients. METHODS: This study included 52 adult de novo AML. Exon 14 and 15 of the FLT3 gene were amplified by PCR and the PCR products were analyzed by 3730XL DNA analyzer (Applied Biosystems, USA) and GeneMapper Software. RESULTS: FLT3/ITD was found in 15 (28.8%) of the 52 AML patients. The presence of FLT3/ITD was significantly associated with absolute leukocyte counts (P=0.002) and bone marrow blast counts (P=0.036). FLT3/ITD was also more frequent in patients with normal karyotype (7 of 18) than in those with cytogenetic aberrations (3 of 25). Patients with t (15;17) showed a higher prevalence of FLT3/ITD (2 of 7). FLT3/ITD was significantly associated with overall survival (P<0.042). CONCLUSIONS: Our data indicate that FLT3/ITD is a common alteration in adult AML patients. Although based on a study with a limited number of AML patients, FLT3/ITD is a prognostic marker in patients with AML.


Subject(s)
Adult , Aged , Aged, 80 and over , Chromosomes, Human, Pair 15 , Chromosomes, Human, Pair 17 , Female , Humans , Leukemia, Myeloid, Acute/genetics , Male , Middle Aged , Mutation , Polymerase Chain Reaction , Prognosis , Survival Analysis , Tandem Repeat Sequences/genetics , fms-Like Tyrosine Kinase 3/genetics
15.
Article in Korean | WPRIM | ID: wpr-224549

ABSTRACT

BACKGROUND/AIMS: p53 gene plays an important role in cell cycle control in response to DNA damage which may increase the probability of mutations leading to carcinogenesis. The role of p53 gene polymorphisms [codon 72 (exon 4) and 16-bp duplication (intron 3)] as potential markers indicating cancer risk remains inconclusive, and the data on gastric cancer are very limited. The aim of this study was to assess the role of p53 gene polymorphisms in the risk of gastric cancer and in the determination of genetic susceptibility to gastric cancer in Koreans. METHODS: We analysed p53 genotypes using a polymerase chain reaction-based restriction fragment length polymorphism assay in a population-based case-control study in 120 gastric cancer patients and 145 cancer-free controls in Koreans. RESULTS: There was no specific genotype of p53 gene polymorphism in the gastric cancer patients compared to cancer-free controls. In p53 codon 72 and 16-bp duplication polymorphisms, the frequency and distribution of genotypes showed no statistical significance (p=0.7125 and p=0.1659). There was no difference in genotype by histologic subtypes, location of lesion, and age. However, the genotypic distribution in the patient subgroups with a history of heavy cigarette smoking of p53 16-bp duplication polymorphism were significantly different from those of cancer-free controls (p=0.0079). CONCLUSIONS: The p53 codon 72 and 16-bp duplication polymorphisms were not associated with the increased risk of gastric cancer and did not seem to contribute to gastric cancer susceptibility among Koreans. It is possible that p53 16-bp duplication polymorphism modulates the risk of smoking-induced gastric cancer development in Koreans. In order to clarify the associations between specific genotypes and gastric cancer risk, the evaluations of these polymorphisms in other ethnic backgrounds with larger number of patients would be needed.


Subject(s)
Adult , Aged , Case-Control Studies , Codon , Data Interpretation, Statistical , Female , Genes, p53 , Genetic Predisposition to Disease , Genotype , Heterozygote , Homozygote , Humans , Korea , Male , Middle Aged , Polymorphism, Restriction Fragment Length , Stomach Neoplasms/genetics , Tandem Repeat Sequences/genetics
16.
Genet. mol. res. (Online) ; 5(2): 390-398, 2006. tab, graf
Article in English | LILACS | ID: lil-442561

ABSTRACT

Prader-Willi syndrome (PWS) is a multisystemic disorder caused by the loss of expression of paternally transcribed genes in the PWS critical region of chromosome 15. Various molecular mechanisms are known to lead to PWS: deletion 15q11-q13 (75% of cases), maternal uniparental disomy (matUPD15) (23%) and imprinting defects (2%). FISH and microsatellite analysis are required to establish the molecular etiology, which is essential for appropriate genetic counseling and care management. We characterized an Argentinean population, using five microsatellite markers (D15S1035, D15S11, D15S113, GABRB3, D15S211) chosen to develop an appropriate cost-effective method to establish the parental origin of chromosome 15 in nondeleted PWS patients. The range of heterozygosity for these five microsatellites was 0.59 to 0.94. The average heterozygosity obtained for joint loci was 0.81. The parental origin of chromosome 15 was established by microsatellite analysis in 19 of 21 non-deleted PWS children. We also examined the origin of the matUPD15; as expected, most of disomies were due to a maternal meiosis I error. The molecular characterization of this set of five microsatellites with high heterozygosity and polymorphism information content improves the diagnostic algorithm of Argentinean PWS children, contributing significantly to adequate genetic counseling of such families.


Subject(s)
Humans , Male , Female , /genetics , Microsatellite Repeats/genetics , Prader-Willi Syndrome/etiology , Argentina , Case-Control Studies , Genetic Carrier Screening/methods , Genetic Markers/genetics , Polymerase Chain Reaction , Tandem Repeat Sequences/genetics , Prader-Willi Syndrome/genetics
17.
J Genet ; 2005 Apr; 84(1): 49-54
Article in English | IMSEAR | ID: sea-114393

ABSTRACT

Exact Tandem Repeats Analyzer 1.0 (E-TRA) combines sequence motif searches with keywords such as 'organs', 'tissues', 'cell lines' and 'development stages' for finding simple exact tandem repeats as well as non-simple repeats. E-TRA has several advanced repeat search parameters/options compared to other repeat finder programs as it not only accepts GenBank, FASTA and expressed sequence tags (EST) sequence files, but also does analysis of multiple files with multiple sequences. The minimum and maximum tandem repeat motif lengths that E-TRA finds vary from one to one thousand. Advanced user defined parameters/options let the researchers use different minimum motif repeats search criteria for varying motif lengths simultaneously. One of the most interesting features of genomes is the presence of relatively short tandem repeats (TRs). These repeated DNA sequences are found in both prokaryotes and eukaryotes, distributed almost at random throughout the genome. Some of the tandem repeats play important roles in the regulation of gene expression whereas others do not have any known biological function as yet. Nevertheless, they have proven to be very beneficial in DNA profiling and genetic linkage analysis studies. To demonstrate the use of E-TRA, we used 5,465,605 human EST sequences derived from 18,814,550 GenBank EST sequences. Our results indicated that 12.44% (679,800) of the human EST sequences contained simple and non-simple repeat string patterns varying from one to 126 nucleotides in length. The results also revealed that human organs, tissues, cell lines and different developmental stages differed in number of repeats as well as repeat composition, indicating that the distribution of expressed tandem repeats among tissues or organs are not random, thus differing from the un-transcribed repeats found in genomes.


Subject(s)
Cells, Cultured , Expressed Sequence Tags , Humans , Organ Specificity , Sequence Analysis, DNA/methods , Software , Tandem Repeat Sequences/genetics
18.
Genet. mol. res. (Online) ; 1(2): 139-146, Jun. 2002.
Article in English | LILACS | ID: lil-417642

ABSTRACT

Blood donors (N = 150) at San José Hospital (Santiago, Chile) were typed for one VNTR locus (D1S80) and three STR loci (D18S849, D3S1744, D12S1090). A questionnaire was used to determine the socioeconomic level of the donors, because it is known that some genetic markers (e.g., the ABO and Rh groups) are differentially distributed between different socioeconomic strata. This methodology revealed that two of the three socioeconomic strata distinguishable in Santiago were present in our sample of blood donors, with stratum II representing the middle strata and stratum III the low strata. Allele frequency was determined for each locus and socioeconomic stratum, and it was found that the allele distributions of each locus in socioeconomic strata II and III were statistically similar. All loci conformed to the Hardy-Weinberg law and there was no evidence for association between the alleles of the four loci, allelic frequencies being similar to those found in North American Hispanic populations. The results support the view that the analysis of these loci may have useful applications in population genetics as well as in identity tests


Subject(s)
Humans , Gene Frequency/genetics , Genetics, Population , Tandem Repeat Sequences/genetics , Blood Group Antigens/genetics , Blood Donors , Chi-Square Distribution , Chile/ethnology , Genetic Markers , Minisatellite Repeats , Polymerase Chain Reaction , Surveys and Questionnaires , Socioeconomic Factors , Urban Population
19.
Article in English | IMSEAR | ID: sea-44071

ABSTRACT

We present application of polymerase chain reaction (PCR)-based short tandem repeat (STR) system for use in paternity testing. The process involves a single tube multiplex PCR of 9 STR loci on different chromosomes, in conjunction with Amelogenin sex test and internal size standards, followed by using an automated DNA sequencer to detect amplified products. The results showed that this system provided unambiguously reliable results. In addition, the method is useful for routine use in that it is robust and reproducible and provides a reliable means of paternity testing.


Subject(s)
Humans , Male , Paternity , Polymerase Chain Reaction/methods , Reproducibility of Results , Sensitivity and Specificity , Tandem Repeat Sequences/genetics , Thailand
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