Consulta: subjectFacets:"Genetic polymorphism"
Registros recuperados: 38
Data/hora: 09/06/2024 11:27:37

MTHFR , prothrombin and Factor V gene variants in Turkish patients   with coronary artery stenosis
Provedor de dados: Genetics and Molecular Biology
Autores: Caner,Müge; Bircan,Rifat; Sevinç,Deniz; Benli,Fehime; Güney,A. Ilter; Kurtoglu,Nuri.
Many epidemiological studies have reported an association between hemostatic factors and risk of both coronary and peripheral artery diseases. Using polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis, we investigated the association between coronary artery disease and polymorphisms in the methylenetetrahydrofolate reductase ( MTHFR  C677T and A1298C), prothrombin (G20210A), and factor V (A4070G) genes. We screened these gene variants in 174 subjects who had undergone coronary angiography - 115 patients with patent coronary artery disease (grade 3 vessel disease,  i.e. , significant coronary stenosis), and 59 healthy controls with grade 0 vessel disease. The analysis of our data did not show any statistically...
Palavras-chave: Genetic polymorphism; Coronary disease; MTHFR gene; Prothrombin gene; Factor V gene.
Ano: 2008
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000500006

Combined association of Presenilin-1 and Apolipoprotein E polymorphisms with maternal meiosis II error in Down syndrome births
Provedor de dados: Genetics and Molecular Biology
Autores: Bhaumik,Pranami; Ghosh,Priyanka; Ghosh,Sujay; Feingold,Eleanor; Ozbek,Umut; Sarkar,Biswanath; Dey,Subrata Kumar.
Abstract Alzheimer's disease and Down syndrome often exhibit close association and predictively share common genetic risk-factors. Presenilin-1 (PSEN-1) and Apolipoprotein E (APOE) genes are associated with early and late onset of Alzheimer's disease, respectively. Presenilin −1 is involved in faithful chromosomal segregation. A higher frequency of the APOE ε4 allele has been reported among young mothers giving birth to Down syndrome children. In this study, 170 Down syndrome patients, grouped according to maternal meiotic stage of nondisjunction and maternal age at conception, and their parents were genotyped for PSEN-1 intron-8 and APOE polymorphisms. The control group consisted of 186 mothers of karyotypically normal children. The frequencies of the...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Chromosome; Genetic polymorphism; Karyotype; Meiosis; Microsatellite markers.
Ano: 2017
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000400577

Analysis of genetic susceptibility to mercury contamination evaluated through molecular biomarkers in at-risk Amazon Amerindian populations
Provedor de dados: Genetics and Molecular Biology
Autores: Klautau-Guimarães,Maria de Nazare; D’Ascenção,Renata; Caldart,Fabiana A.; Grisolia,Cesar K.; Souza,Jurandir R. de; Barbosa,Antonio C.; Cordeiro,Célia M.T.; Ferrari,Iris.
We investigated Individual differences in susceptibility to methylmercury (MeHg) contamination and its relationship with polymorphisms of the detoxifying enzyme glutathione S-transferase (GST). In Brazil, some Amerindian tribes from the Amazon region have an increased level of mercury in their hair. Samples of hair and blood were taken from inhabitants of two villages in the Kayabi and Munduruku Amerindian communities to investigate mercury levels in association with genetic polymorphism of GSTs. Other molecular biological markers were also studied, such as hemoglobin, haptoglobin and glucose 6-phosphate dehydrogenase (G-6-PDH). Higher levels of mercury contamination were found in the Kayabi villagers, who had a null genotype (GSTM1 0/0, also denominated...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Amerindian; Genetic polymorphism; Glutathione S-transferase; Mercury.
Ano: 2005
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000500027

Programmed cell death 1 gene (PDCD1) polymorphism and pemphigus foliaceus (fogo selvagem) disease susceptibility
Provedor de dados: Genetics and Molecular Biology
Autores: Braun-Prado,Karin; Petzl-Erler,Maria Luiza.
Pemphigus foliaceus, also known as fogo selvagem, is an autoimmune disease of the epidermis characterized by superficial blisters and antibodies against desmoglein 1. It is a multifactorial disease and genetic susceptibility is oligogenic or polygenic. Considering the crucial function of the programmed cell death 1 molecule (PD-1) in the immune response, the aim of this study was to verify if variants of the PDCD1 gene influence susceptibility and resistance to pemphigus foliaceus, in a case - control disease association study. We analyzed patients (n = 154) and unaffected control individuals (n = 325) of the Brazilian population, in respect to the PD1.3(G,A) PD1.5(C,T) and PD1.6(A,G) single nucleotide polymorphisms (SNPs) and also investigated, for the...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Genetic association; PD-1; PDCD1; Genetic polymorphism; Pemphigus.
Ano: 2007
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000300003

Polymorphisms of cytochrome P450 1A1, glutathione s-transferases M1 and T1 genes in ouangolodougou (Northern Ivory Coast)
Provedor de dados: Genetics and Molecular Biology
Autores: Santovito,Alfredo; Burgarello,Claudio; Cervella,Piero; Delpero,Massimiliano.
In this study, the frequencies of CYP1A1, GSTM1, and GSTT1 gene polymorphisms were determined in 133 healthy individuals from Ouangolodougou, a small rural town situated in the north of the Ivory Coast. As appeared in several published studies, ethnic differences in these frequencies have been found to play an important role in the metabolism of a relevant number of human carcinogens. In the studied sample, the frequencies of Ile/Ile (wild type), Ile/Val (heterozygous variant), and Val/Val (homozygous variant) CYP1A1 genotypes were 0.271, 0.692, and 0.037, respectively. Frequencies of GSTM1 and GSTT1 null genotypes were 0.361 and 0.331, respectively. No significant differences were noted between men and women. In contrast to published data for Africans,...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: CYP1A1; GSTM1; GSTT1; Genetic polymorphism; Ouangolodougou.
Ano: 2010
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000300006

CCR5D32 mutation in three Brazilian populations of predominantly Sub-Saharan African ancestry
Provedor de dados: Genetics and Molecular Biology
Autores: Carvalho,Mônica W.P.; Leboute,Ana P.M.; Oliveira,Silviene F.; Sousa,Sandra M.B.; Klautau-Guimarães,Maria de Nazaré; Simões,Aguinaldo L.
This study reports the frequencies of the CCR5D32 mutation of the beta-chemokine 5 gene and discusses the possible effects of past and recent gene flow in three quilombo remnants (Brazilians communities with anthropological African ancestry whose ancestors were escaped slaves): Rio das Rãs, Mocambo, and São Gonçalo in the northeastern region of Brazil. The CCR5D32 allele frequency of the Mocambo population was significantly higher (5.6%) than that found in the Rio das Rãs (1%) and São Gonçalo (0.9%) populations. These differences may reflect different proportions of parental populations in the founders individuals, a founder-effect and/or different histories of inter-ethnic contact. The frequency of the CCR5D32 allele in the Mocambo sample is similar to...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: CCR5; Genetic polymorphism; Sub-Saharan Afro-derived Brazilian populations; Ethnic-grouspecific marker.
Ano: 2004
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000300002

Isoenzyme variation in the leaf-cutting ants Acromyrmex heyeri and Acromyrmex striatus (Hymenoptera, formicidae)
Provedor de dados: Genetics and Molecular Biology
Autores: Diehl,Elena; Cavalli-Molina,Suzana; Araújo,Aldo Mellender de.
This is the first study of isoenzyme variability in the leaf-cutting ants (Myrmicinae, Attini) Acromyrmex heyeri (Forel, 1899) and A. striatus (Roger, 1863) which are common throughout the southern Brazilian state of Rio Grande do Sul. We studied the alloenzyme variability of malate dehydrogenase (MDH), alpha-glycerophosphate dehydrogenase (alpha-GPDH) and amylase (AMY) in 97 colonies of A. heyeri and 103 colonies of A. striatus. Five loci were found for these enzyme systems, one locus (Amy-1) being monomorphic in both species and four loci (Mdh-1, alpha-Gpdh-1, Amy-2, and Amy-4) being polymorphic. For each species there were exclusive alleles for the Mdh-1 and Amy-2 loci and differences were also found in the allele frequencies for the other polymorphic...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Ants; Allozyme variation; Fungus grower ants; Genetic polymorphism; Haplodiploid.
Ano: 2002
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000200010

ANRIL rs1333049 C/G polymorphism and coronary artery disease in a North Indian population - Gender and age specific associations
Provedor de dados: Genetics and Molecular Biology
Autores: Kaur,Naindeep; Singh,Jagtar; Reddy,Sreenivas.
Abstract Many studies conducted worldwide substantiate a role of genetic polymorphisms in non-coding regions linked with coronary artery disease (CAD). One such single nucleotide polymorphism (SNP) of a non-coding RNA in the INK4 locus (ANRIL) i.e. rs1333049 C/G in the vicinity of cell cycle regulating genes is documented to have a role in CAD risk. In this study we aimed to determine the association of ANRIL rs1333049 C/G with CAD in a North Indian population. Five hundred disease free controls and 500 CAD patients were genotyped using allele specific ARMS-PCR method. High risk association of rs1333049 was seen in both heterozygous and mutant genotypes (OR=2.883, 95% CI=1.475-5.638 and p=0.002 and OR=6.717, 95% CI=3.444-13.102 and p &lt; 0.001...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Genetic polymorphism; Coronary artery disease; North Indian Population; ARMS-PCR; Epidemiology study.
Ano: 2020
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100114

Polymorphisms associated with the risk of lung cancer in a healthy Mexican Mestizo population: application of the additive model for cancer
Provedor de dados: Genetics and Molecular Biology
Autores: Pérez-Morales,Rebeca; Méndez-Ramírez,Ignacio; Castro-Hernández,Clementina; Martínez-Ramírez,Ollin C.; Gonsebatt,María Eugenia; Rubio,Julieta.
Lung cancer is the leading cause of cancer mortality in Mexico and worldwide. In the past decade, there has been an increase in the number of lung cancer cases in young people, which suggests an important role for genetic background in the etiology of this disease. In this study, we genetically characterized 16 polymorphisms in 12 low penetrance genes (AhR, CYP1A1, CYP2E1, EPHX1, GSTM1, GSTT1, GSTPI, XRCC1, ERCC2, MGMT, CCND1 and TP53) in 382 healthy Mexican Mestizos as the first step in elucidating the genetic structure of this population and identifying high risk individuals. All of the genotypes analyzed were in Hardy-Weinberg equilibrium, but different degrees of linkage were observed for polymorphisms in the CYP1A1 and EPHX1 genes. The genetic...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Additive model; Genetic polymorphism; Lung cancer; Mexicans; Molecular epidemiology.
Ano: 2011
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000400003

Reconstruction of major maternal and paternal lineages of the Cape Muslim population
Provedor de dados: Genetics and Molecular Biology
Autores: Isaacs,Shafieka; Geduld-Ullah,Tasneem; Benjeddou,Mongi.
The earliest Cape Muslims were brought to the Cape (Cape Town -South Africa) from Africa and Asia from 1652 to 1834. They were part of an involuntary migration of slaves, political prisoners and convicts, and they contributed to the ethnic diversity of the present Cape Muslim population of South Africa. The history of the Cape Muslims has been well documented and researched however no in-depth genetic studies have been undertaken. The aim of the present study was to determine the respective African, Asian and European contributions to the mtDNA (maternal) and Y-chromosomal (paternal) gene pool of the Cape Muslim population, by analyzing DNA samples of 100 unrelated Muslim males born in the Cape Metropolitan area. A panel of six mtDNA and eight Y-chromosome...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: PCR-RFLP; Genetic polymorphism; Mitochondrial DNA; Population genetic structure; Chromosome variations.
Ano: 2013
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000200005

Distribution of N-acetyltransferase Type 1 (NAT1) genotypes and alleles in a Turkish population
Provedor de dados: Genetics and Molecular Biology
Autores: Arslan,Serdal; Degerli,Naci; Bardakci,Fevzi.
NAT1 is an intronless gene on chromosome 8p21.3 encoding a 290-amino-acid-long protein showing acetyltransferase activity. Some 26 alleles of NAT1 gene have been identified in human populations. In the present study we determined the distributions of NAT1 genotypes and alleles in a sample of 201 individuals from the Turkish population in Central Anatolia. The most frequent genotypes were NAT1*4/NAT1*4 (51.74%), NAT1*10/NAT1*4 (22.39%), NAT1*11/NAT1*4 (7.46), NAT1*10/NAT1*10 (3.98%). Frequencies of NAT1*3, *4 (wild-type), *10 and *11 alleles were 3.73%, 69.6%, 17.66% and 7.2%, respectively. The frequency of NAT1*11 was the highest amongst the populations studied so far, the other allele frequencies being close to those described in Caucasian populations.
Tipo: Info:eu-repo/semantics/article
Palavras-chave: NAT1 gene; Genetic polymorphism; Molecular epidemiology; Turkish population.
Ano: 2004
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000200005

ADRB2 polymorphisms predict the risk of myocardial infarction and coronary artery disease
Provedor de dados: Genetics and Molecular Biology
Autores: Wang,Dong-Wei; Liu,Min; Wang,Ping; Zhan,Xiang; Liu,Yu-Qing; Zhao,Luo-Sha.
Abstract Recently, the rs1042713 G &gt; A and rs1042714 C &gt; G polymorphisms in the beta-2 adrenergic receptor (ADRB2) gene were shown to be related to atherosclerosis diseases. Therefore, we performed a systemic meta-analysis to determine whether the two functional polymorphisms are related to the risk of myocardial infarction (MI) and coronary artery disease (CAD). We identified published studies that are relevant to our topic of interest. Seven case-control studies, with a total of 6,843 subjects, were incorporated into the current meta-analysis. Our analysis showed a higher frequency of rs1042713 G &gt; A variant in patients with MI or CAD compared to healthy controls. A similar result was also obtained with the rs1042714 C &gt; G variant under both...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Beta-2 adrenergic receptor; Genetic polymorphism; Myocardial infarction; Coronary artery disease; Meta-analysis.
Ano: 2015
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000400433

Analysis of apolipoprotein E genetic polymorphism in a large ethnic Hakka population in southern China
Provedor de dados: Genetics and Molecular Biology
Autores: Zhong,Zhixiong; Wu,Heming; Wu,Hesen; Zhao,Pingsen.
Abstract There is currently no data about the genetic variations of APOE in Hakka population in China. The aim of this study was to analyze the allelic and genotypic frequencies of APOE gene polymorphisms in a large ethnic Hakka population in southern China. The APOE genes of 6,907 subjects were genotyped by the gene chip platform. The allele and genotype frequencies were analyzed. Results showed that the ∊3 allele had the greatest frequency (0.804) followed by ∊2 (0.102), and ∊4 (0.094), while genotype ∊3/∊3 accounted for 65.43% followed by ∊2/∊3 (15.85%), ∊3/∊4 (14.13%), ∊2/∊4 (3.01%), ∊4/∊4 (0.84%), and ∊2/∊2 (0.74%) in all subjects. The frequencies of the ∊4 allele in Chinese populations were lower than Mongolian and Javanese, while the frequencies of...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Apolipoprotein E; Genetic polymorphism; Hakka; Southern China; Genotyping.
Ano: 2018
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500742

Bovine kappa-casein gene polymorphism and its association with milk production traits
Provedor de dados: Genetics and Molecular Biology
Autores: Rachagani,Satyanarayana; Gupta,Ishwar Dayal.
Point mutations in exon IV of the bovine κ-casein (CSN3) gene determine two allelic variants, A and B. These variants were distinguished by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis in the indigenous Sahiwal and Tharparkar cattle breeds. DNA samples (252 Sahiwal and 56 Tharparkar) were analyzed for allelic variants of the CSN3 gene. Polymorphism was detected by digestion of PCR-amplified products with HindIII, HhaI and HaeIII restriction enzymes, followed by separation on 3% agarose gels, and resolved by ethidium bromide staining. Allele A of the κ-casein gene occurred at a higher frequency than allele B, in both Sahiwal and Tharparkar breeds. The genotypic frequencies of AA, AB, and BB in the Sahiwal and...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Indian cattle; Κ-casein; Genetic polymorphism; PCR-RFLP.
Ano: 2008
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000500015

Prevalence of codon 72 P53 polymorphism in Brazilian women with cervix cancer
Provedor de dados: Genetics and Molecular Biology
Autores: Brenna,Sylvia Michelina Fernandes; Silva,Ismael Dale Cotrin Guerreiro da; Zeferino,Luiz Carlos; Pereira,Julia; Martinez,Edson Zachaione; Syrjänen,Kari Juhani.
The p53 codon 72 polymorphism seems to be associated with HPV-carcinogenesis, although controversial data have been reported. A series of Brazilian women with cervix carcinomas were analyzed. Ninety-nine (67%) of 148 women were found to be homozygous (arg/arg) for the arginine polymorphism, and 49 (33%) were heterozygous (arg/pro). This polymorphism may be an important determinant of the risk for cervix cancer, but does not seem to be sufficient for carcinogenesis.
Tipo: Info:eu-repo/semantics/article
Palavras-chave: P53 polymorphism; Codon 72; Genetic polymorphism; Cervix cancer; Human papillomavirus.
Ano: 2004
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000400005

Distribution of the CCR5delta32 allele (gene variant CCR5) in Rondônia, Western Amazonian region, Brazil
Provedor de dados: Genetics and Molecular Biology
Autores: Farias,Josileide Duarte de; Santos,Marlene Guimarães; França,Andonai Krauze de; Delani,Daniel; Tada,Mauro Shugiro; Casseb,Almeida Andrade; Simões,Aguinaldo Luiz; Engracia,Vera.
Since around 1723, on the occasion of its initial colonization by Europeans, Rondonia has received successive waves of immigrants. This has been further swelled by individuals from northeastern Brazil, who began entering at the beginning of the twentieth century. The ethnic composition varies across the state according to the various sites of settlement of each wave of immigrants. We analyzed the frequency of the CCR5L32 allele of the CCR5 chemokine receptor, which is considered a Caucasian marker, in five sample sets from the population. Four were collected in Porto Velho, the state capital and the site of several waves of migration. Of these, two, from the Hospital de Base were comprised of HB Mothers and HB Newborns presenting allele frequencies of 3.5%...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: CCR5; CCR5Δ32; Rondônia; Genetic polymorphism; Allele frequency.
Ano: 2012
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000100003

Genetical basis of the plasticity of resource allocation in the Pacific oyster (Crassostrea gigas)
Provedor de dados: Institutional Archive of Ifreme (ArchiMer)
Autores: Ernande, Bruno; Haure, Joel; Degremont, Lionel; Bedier, Edouard; Boudry, Pierre.
Phenotypic and genetic correlations between fitness-related life-history traits - such as survival, growth and reproductive allocation - have to be considered to better understand selective processes, both in the wild and in breeding programs. Quantitative genetic experiments, based on nested half-sib mating designs, were perfomed in the Pacific oyster C. gigas (1) to estimate genetic variance and the response to selection and (2) to document phenotypic and genetic trade-offs between life history traits. Physiological trade-offs, i.e. plastcity of resource allocation, were shown to vary among genotypes. Genetic polymorphism was primarily observed for the the plasticity of reproductive effort. In addition, the degree of plasticity in reproductive effort...
Tipo: Text
Palavras-chave: Genetic polymorphism; Genetic; Plasticity; Genetical basis; Crassostrea gigas; Pacific oysters.
Ano: 2002
URL: http://archimer.ifremer.fr/doc/2002/acte-3443.pdf

Caractérisation de marqueurs génétiques fonctionnels de la nutrition et/ou de l'adaptation (les amylases) chez l'huître creuse Crassostrea gigas : intérêts pour la sélection
Provedor de dados: Institutional Archive of Ifreme (ArchiMer)
Autores: Prudence, Marie.
Two amylase genes, A and B, from the oyster Crassostrea gigas were characterized. Using PCR-RFLP, 6 and 4 alleles, respectively, were described for the amylase genes A and B. The roles of A and B amylase genes were investigated experimentally. They are expressed during larval and adult stages, and A transcripts are more abundant than B. The A transcript increases significantly with temperature, in high trophic conditions. However, A and B transcript levels do not change when food quantity increases although amylase activity augments. The level of B is correlated with dietary starch quantities, whereas the amount of A appears to remain constant ; simultaneously amylase activity decreases and the KM increases. These results suggest that expression of B is...
Tipo: Text
Palavras-chave: Enzymatic analyse; Genetic polymorphism; Genes; Nutrition; Growth; Environmental effects; Oysters; Amylases; Amylases; Analyse enzymatique; Polymorphisme génétique; Gènes; Nutrition; Croissance; Effets de l'environnement; Huîtres; Amylases; Amylases.
Ano: 2006
URL: http://archimer.ifremer.fr/doc/2006/these-1700.pdf

Morphological and molecular data to describe a hybrid population of the Common toad (Bufo bufo) and the Spined toad (Bufo spinosus) in western France
Provedor de dados: Naturalis Digital Academic Repository
Autores: Trujillo, T.; Gutiérrez-Rodríguez, J.; Arntzen, J.W.; Martínez-Solano, I.
The use of hyper-variable markers across species is often hindered by low cross-species amplification success, a reduced level of polymorphism or a high frequency of null alleles. However, optimizing sets of reliable and informative markers that can be consistently amplified and scored across taxa is key to address questions about patterns of genetic diversity and structure, hybridization and speciation. Here we present 14 newly developed microsatellite markers in the Spined toad (Bufo spinosus), assess their polymorphism in two Iberian populations and test for cross-species amplification in the closely related Common toad (Bufo bufo). We then use the 12 loci co-amplifying in both species to the study of a morphologically intermediate population (Moyaux)...
Tipo: Article / Letter to the editor
Palavras-chave: Amphibians; Cross-amplification; Genetic polymorphism; Hybridization; Microsatellites; Morphology.
Ano: 2017
URL: http://www.repository.naturalis.nl/record/623750

Genetic differentiation in natural populations of Lutzomyia longipalpis (Lutz &amp;amp; Neiva) (Diptera: Psychodidae) with different phenotypic spot patterns on tergites in males
Provedor de dados: Neotropical Entomology
Autores: Silva,MH; Nascimento,MDSB; Leonardo,FS; Rebêlo,JMM; Pereira,SRF.
Entomological surveys in the state of Maranhão have recorded morphologically distinct populations of Lutzomyia longipalpis (Lutz &amp;amp; Neiva). Some populations have one pair of spots (1S) on the fourth tergite, while others have two pairs (2S) on the third and fourth tergites of males. In the present study we investigated the degree of genetic polymorphism among four populations in the municipalities of Caxias, Codó and Raposa, in the state of Maranhão, Brazil, by using RAPD (Random Amplified Polymorphic DNA) markers. A total of 35 loci were identified, of which 30 were polymorphic. The highest polymorphism was observed with primer OPA 4, which produced 11 different profiles. Genetic diversity was assessed using grouping methods that produced a...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Abdominal spot; Genetic polymorphism; Leishmaniasis; RAPD-PCR; Sand fly.
Ano: 2011
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1519-566X2011000400015

Arachis hoehnei, the probable B genome donor of Arachis hypogaea based on crossability, cytogenetical and molecular studies
Provedor de dados: Open Acess Agriculture Research Repository
Autores: Mallikarjuna, N.
Palavras-chave: Genomes; Hybrids; Polyploidy; Cytogenetics; DNA; Groundnuts; Mosses; Genetic polymorphism; Polymorphism; Genetic improvement.
Ano: 2006
URL: http://agropedia.iitk.ac.in/openaccess/?q=node/3177

New molecular marker technologies for pearl millet improvement
Provedor de dados: Open Acess Agriculture Research Repository
Autores: Gale, M.D.
Palavras-chave: Millets; Genomes; Genes; DNA; Genetic polymorphism; Genetic structures; Genetic markers; Locus; Genetic maps; Chromosomes.
Ano: 2005
URL: http://agropedia.iitk.ac.in/openaccess/?q=node/3219

Paternity test in "Mangalarga-Marchador" equines by DNA-fingerprinting
Provedor de dados: Pesquisa Agropecuária Brasileira
Autores: ANUNCIAÇÃO,CARLOS EDUARDO; ASTOLFI-FILHO,SPARTACO.
GC-rich molecular minisatellite probes isolated from the human genome have presented a poor ability for individualization in horses. In this study new DNA sequences were isolated which could be used in paternity tests in horses. Genomic DNA from "Mangalarga-Marchador" horses was treated with restriction enzymes that preferentially digest non-repetitive sequences, so preserving the structure where mini and microsatellites are located. Four clones (S01, S05, S07 and S09) selected from a genomic library screened with a (TG)n oligonucleotide showed similar hybridization profiles generating bands of DNA-fingerprinting type. Using these probes the individualization power obtained was 10-8, which is 10(5)fold higher than that obtained with M13, another GC-rich...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Breeding methods; Molecular cloning; Progeny testing; Horses; Identification; Genetic polymorphism.
Ano: 2000
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-204X2000001000012

Genetic variability of Brazilian phytoplasma and spiroplasma isolated from maize plants
Provedor de dados: Pesquisa Agropecuária Brasileira
Autores: Gomes,Eliane Aparecida; Jardim,Sílvia Neto; Guimarães,Claudia Teixeira; Souza,Isabel Regina Prazeres de; Oliveira,Elizabeth de.
The objective of this work was to characterize the genetic variability of phytoplasma and Spiroplasma kunkelii isolated from maize plants showing symptoms of stunt collected from different Brazilian geographic regions. A DNA fragment of 500 base pairs (bp) was amplified from the spiralin gene in S. kunkelii and one fragment of 1,200 bp was generated from 16S rDNA gene in phytoplasma. The partial sequences of the spiralin gene showed similarity of 98% among the isolates of S. kunkelii analyzed. These sequences were compared with the sequence of the spiralin gene from other Spiroplasma species deposited in the GenBank, resulting in a similarity varying from 76.9% to 88.1%. The 16S rDNA sequence from the phytoplasma were completely similar within the...
Tipo: Info:eu-repo/semantics/report
Palavras-chave: Zea mays; Microorganisms; Spiralin; Mollicutes; Genetic polymorphism; Gene sequence.
Ano: 2004
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-204X2004000100009

Genetic Analysis of Izoenzymes Polymorphisms in Silkworm (Bombyx mori L.) Strains - doi: 10.4025/actascibiolsci.v35i2.13102
Provedor de dados: Acta Scientiarum: Biological Sciences
Autores: Ronqui, Ludimilla; Fundação Universidade Federal de Rondônia; Fernandez, Maria Aparecida; Universidade Estadual de Maringá; Takasusuki, Maria Claudia Colla Ruvolo; Universidade Estadual de Maringá.
This work carried out to evaluates the polymorhism in the silkworm of different lineages using the isoenzymes electrophoresis to detect biochemical markers and to investigate the genetics of populations for those lineages. They were used as samples individual extracts of silk glands of second day old larvas of the fifth instar, originating from seven Japanese lineages and eight pure Chinese lineages maintained by the Cocamar-Cooperativa Agroindustrial de Maringá. The isozymes acid phosphatase (ACP), alkaline phosphatase (AKP) and carbonic anhydrase (CA) they were submitted to the electrophoresis in starch gels 14%. The esterases (EST) were analyzed in polyacrylamide gels to 10% and stained with α and b-naphtyl acetate. The total of 21 loci was detected,...
Palavras-chave: 2.02.04.00-0 silkworm; Genetic polymorphism; Isoenzymes Genética animal.
Ano: 2013
URL: http://periodicos.uem.br/ojs/index.php/ActaSciBiolSci/article/view/13102

Genetic relationship among Camponotus rufipes Fabricius (Hymenoptera: Formicidae) nests by RAPD molecular markers - doi: 10.4025/actascibiolsci.v35i1.10913
Provedor de dados: Acta Scientiarum: Biological Sciences
Autores: Matta, Sara Lívia da Silva Fernandes da; Universidade de Mogi das Cruzes; Morini, Maria Santina de Castro; Universidade de Mogi das Cruzes; Hilsdorf, Alexandre Wagner Silva; Universidade de Mogi das Cruzes.
Random amplified polymorphic DNA (RAPD) markers were used to investigate the genetic relationship among nests of the carpenter ant, Camponotus rufipes, located in the same area. Five random oligodecamers were used to amplify DNA from 108 ant workers collected from six nests. A total of 47 RAPD markers were identified, which revealed low levels of genetic differentiation among nests (Fst = 0.00218) and a low average Shannon index (0.3727) among workers within nests. These results together suggest that the C. rufipes nest may be formed by a single, once-mated queen and that nests produced by queens that are genetically related tend to keep their nests in close proximity to one other.
Palavras-chave: 2.02.02.00-8 carpenter ants; Monogyne; Genetic polymorphism; Genetic distance genética.
Ano: 2012
URL: http://periodicos.uem.br/ojs/index.php/ActaSciBiolSci/article/view/10913

MnSOD and GPx1 polymorphism relationship with coronary heart disease risk and severity
Provedor de dados: Biological Research
Autores: Souiden,Yosra; Mallouli,Hela; Meskhi,Salah; Chaabouni,Yassine; Rebai,Ahmed; Chéour,Foued; Mahdouani,Kacem.
BACKGROUND: Disturbance of the equilibrium between reactive oxygen species (ROS) and anti-oxidants (AOX) has been implicated in various diseases, including atherosclerosis, the most common pathologic process underlying coronary heart disease (CHD). Thus, the defense systems against ROS are critical protecting blood vessel walls against oxidative damage. In this study, we investigate whether Ala16Val MnSOD and Pro198Leu GPx polymorphisms are associated with CHD susceptibility and/or severity METHODS: Both polymorphisms were genotyped in a sample of 203 controls and 164 patients. CHD risk and severity, antioxidant status (enzymatic and/or non enzymatic) and biochemical parameters were assessed and analysed by genotype RESULTS: A significant association of...
Tipo: Journal article
Palavras-chave: Genetic polymorphism; Coronary heart disease; SOD activity; GPx activity; Total antioxidant status; Atherosclerosis.
Ano: 2016
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602016000100022

Genetic polymorphism in eight Chilean strains of the carotenogenic microalga Dunaliella salina Teodoresco (Chlorophyta)
Provedor de dados: Biological Research
Autores: GOMEZ,PATRICIA I; GONZALEZ,MARIELA A.
Eight Chilean strains of Dunaliella salina obtained within a restricted geographic range, but exhibiting a high variability in their morphology, rate of growth and carotenogenic capacity, were analyzed by Random Amplified Polymorphic DNA (RAPD-PCR). Twenty of the 50 random primers (D, P, OPA and OPD series) that were tested amplified reproducible bands and were useful for comparative analysis of the strains. Of 107 polymorphic genetic markers, 49 were strain-specific. A great genetic variability was found among the strains in spite of their geographic proximity. In addition, phenetic analysis of the data showed close agreement between the morpho-physiological attributes and the genetic diversity of the strains
Tipo: Journal article
Palavras-chave: SS-carotene; Dunaliella salina; Genetic polymorphism; RAPD.
Ano: 2001
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602001000100012

Involvement of transforming growth factor beta-1 (TGFβ1) cytokine and FOXP3 transcription factor genetic polymorphisms in hematological malignancies
Provedor de dados: Brazilian Archives of Biology and Technology
Autores: Vitiello,Glauco Akelinghton Freire; Guembarovski,Roberta Losi; Oliveira,Carlos Eduardo Coral de; Amarante,Marla Karine; Perim,Aparecida de Lourdes; Watanabe,Maria Angelica Ehara.
Hematological malignancies (HM) are a group of neoplastic diseases that arise from hematologic cell lineages. Transforming growth factor beta 1 (TGFβ1) is shown to negatively regulate normal and malignant hematopoiesis and, in immunological context, to promote T cell exhaustion and generation of regulatory T cells, which are shown to be deleterious in cancer, by the induction of transcription factor FOXP3 expression. The present study aimed to evaluate TGFB1 exon-1 rs1800470 and FOXP3 intron-1 rs2232365 polymorphisms in relation to HM susceptibility. DNA was extracted from blood samples of 43 HM patients and 142 neoplasia-free individuals and polymorphisms were analyzed by allelic-specific PCR. Association analysis was assessed by the Odds Ratio (OR) with...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Hematological malignancies; TGFB1; FOXP3; Genetic polymorphism; Susceptibility.
Ano: 2015
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-89132015000400553

Protein Expression and Codon 72 Polymorphism of TP53 Gene in Triple Negative Breast Cancer
Provedor de dados: Brazilian Archives of Biology and Technology
Autores: Lopes,Leandra Fiori; Guembarovski,Roberta Losi; Guembarovski,Alda Losi; Kishima,Marina Okuyama; Campos,Clodoaldo Zago; Derossi,Daniela Rudgeri; Ariza,Carolina Batista; Ozawa,Patricia Midori Murobushi; Oliveira,Carlos Eduardo Coral de; Banin-Hirata,Bruna Karina; Vitiello,Glauco Akelinghton Freire; Borelli,Sueli Donizete; Watanabe,Maria Angelica Ehara.
A subgroup of tumor that has received attention is triple-negative breast cancer (TNBC), which presents phenotype of negative estrogen receptor, negative progesterone receptor and has no overexpression of HER2. TP53 acts as a tumor suppressor limiting the proliferation of damaged cells. A polymorphic site (rs1042522) of TP53 encodes either an arginine or a proline amino acid, but its biological significance remains unclear. This study aimed to investigate this variant and its expression in search for a possible involvement in TNBC susceptibility and clinical outcome. Genetic polymorphism was evaluated in 50 patients and 115 controls by PCR based methodology and immunohistochemistry was done with monoclonal antibody. Case-control study showed no positive or...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Breast cancer; TNBC; TP53; Genetic polymorphism; Immunohistochemistry.
Ano: 2014
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-89132014000600895

Genetic polymorphism in brazilian microcystis spp. (Cyanobacteria) toxic and non-toxic through RFLP-PCR of the cpcBA-IGS
Provedor de dados: Brazilian Archives of Biology and Technology
Autores: Bittencourt-Oliveira,Maria do Carmo; Cunha,Maristela Casé Costa; Moura,Ariadne do Nascimento.
The escalating occurrence of cyanobacterial toxic blooms demands a better understanding of genetic variability as an auxiliary expedient in species identification, collaborating with the monitoring of water destined to public supply. This study aimed at the unraveling of genetic polymorphism in the toxic and nontoxic strains of Microcystis (Cyanobacteria) species, isolated from diverse Brazilian localities through the RFLP-PCR technique applied to the c-phycocyanin encoding operon and its intergenic spacer (cpcBA-IGS). Eighteen strains belonging to M. aeruginosa, M. panniformis, M. protocystis and M. wesenbergii, plus two other unidentified strains, were analyzed by means of the morphological and molecular data. The molecular data constituted three groups...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Cyanobacteria; CpcBA-IGS; Genetic polymorphism; Microcystin; Microcystis; RFLP.
Ano: 2009
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-89132009000400014

Polymorphism in CYP17, GSTM1 and the progesterone receptor genes and its relationship with mammographic density
Provedor de dados: Brazilian Journal of Medical and Biological Research
Autores: Chambo,D.; Kemp,C.; Costa,A.M.M.; Souza,N.C.N.; Guerreiro da Silva,I.D.C.
Radiologic breast density is one of the predictive factors for breast cancer and the extent of the density is directly related to postmenopause. However, some patients have dense breasts even during postmenopause. This condition may be explained by the genes that codify for the proteins involved in the biosynthesis, as well as the activity and metabolism of steroid hormones. They are polymorphic, which could explain the variations of individual hormones and, consequently, breast density. The constant need to find markers that may assist in the primary prevention of breast cancer as well as in selecting high risk patients motived this study. We determined the influence of genetic polymorphism of CYP17 (cytochrome P450c17, the gene involved in steroid...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Mammography; 17-alpha hydroxylase steroid; Glutathione transferase; Progesterone receptor; Genetic polymorphism.
Ano: 2009
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009000400003

Association between serotonin 2C receptor gene (HTR2C) polymorphisms and psychopathological symptoms in children and adolescents
Provedor de dados: Brazilian Journal of Medical and Biological Research
Autores: Paes,L.A.; Torre,O.H. Della; Henriques,T.B.; de Mello,M.P.; Celeri,E.H.R.V.; Dalgalarrondo,P.; Guerra Júnior,G.; dos Santos Júnior,A.
Serotonin 2C receptors (5HT2C) are involved in serotonin-driven dynamic equilibrium adjustments responsible for homeostatic stability in brain structures that modulate behavior and emotions. Single nucleotide polymorphisms (SNPs) from the serotonin 2C receptor gene (HTR2C) have been associated with several neurological and mental disorders, including abnormalities in cognitive and emotional processes. The aim of this study was to evaluate the association between the rs6318 SNP of the HTR2C gene and behavioral characteristics exhibited by children and adolescents based on the Child Behavior Checklist (CBCL/6-18) inventory. Eighty-five psychiatric outpatients between 8 and 18 years of age underwent genotyping of the rs6318 SNP. The CBCL/6-18 scale was...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Genetic polymorphism; Serotonin; CBCL/6-18; Children; Adolescents; HTR2C.
Ano: 2018
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2018000800611

Surfactant protein B gene polymorphism in preterm babies with respiratory distress syndrome
Provedor de dados: Brazilian Journal of Medical and Biological Research
Autores: Lyra,P.P.R.; Diniz,E.M.A.; Abe-Sandes,K.; Angelo,A.L.D.; Machado,T.M.B.; Cardeal,M.
The etiology of respiratory distress syndrome (RDS) is multifactorial and multigenic. Studies have suggested that polymorphisms and mutations in the surfactant protein B (SP-B) gene are associated with the pathogenesis of RDS. The objectives of this study were to determine and compare the frequencies of SP-B gene polymorphisms in preterm babies with and without RDS. We studied 151 neonates: 79 preterm babies without RDS and 72 preterm newborns with RDS. The following four SP-B gene polymorphisms were analyzed: A/C at -18, C/T at 1580, A/G at 9306, and G/C at nucleotide 8714. The polymorphisms were detected by PCR amplification of genomic DNA and genotyping. The genotypes were determined using PCR-based converted restriction fragment length polymorphisms....
Tipo: Info:eu-repo/semantics/other
Palavras-chave: Newborn respiratory distress syndrome; Genetic polymorphism; Surfactant protein B.
Ano: 2011
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2011000100010

No evidence of association of MUC-1 genetic polymorphism with embryo implantation failure
Provedor de dados: Brazilian Journal of Medical and Biological Research
Autores: Dentillo,D.B.; Souza,F.R.P.; Meola,J.; Vieira,G.S.; Yazlle,M.E.H.D.; Goulart,L.R.; Martelli,L.
Pregnancy loss can be caused by several factors involved in human reproduction. Although up to 50% of cases remain unexplained, it has been postulated that the major cause of failed pregnancy is an error of embryo implantation. Transmembrane mucin-1 (MUC-1) is a glycoprotein expressed on the endometrial cell surface which acts as a barrier to implantation. The gene that codes for this molecule is composed of a polymorphic tandem repeat of 60 nucleotides. Our objective was to determine if MUC-1 genetic polymorphism is associated with implantation failure in patients with a history of recurrent abortion. The study was conducted on 10 women aged 25 to 35 years with no history of successful pregnancy and with a diagnosis of infertility. The control group...
Tipo: Info:eu-repo/semantics/other
Palavras-chave: Mucin-1; Female infertility; Implantation failure; Variable number of tandem repeats; Genetic polymorphism.
Ano: 2007
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2007000600007

The APOB rs693 polymorphism impacts the lipid profile of Brazilian older adults
Provedor de dados: Brazilian Journal of Medical and Biological Research
Autores: Alves,E.S.; Henriques,A.D.; Tonet-Furioso,A.C.; Paula,R.S.; Gomes,L.O.; Moraes,C.F.; Nóbrega,O.T.
The apolipoprotein B (APOB) gene contains several polymorphic sites described as risk modifiers for cardiovascular events. The objective of this study was to verify the association of the classic APOB Xba I polymorphism (rs693) with atherosclerotic risk factors in a segment of the Brazilian elderly population considering their usual dietary intake. Clinical and biochemical characteristics as well as total caloric and fat intake data were determined from 644 elderly individuals. Polymorphism analysis was performed by conventional polymerase chain reaction followed by enzyme restriction. Statistical analyses compared measures and proportions according to different APOB genotypic combinations. Statistically significant association was found between Xba I...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Apolipoprotein B; Genetic polymorphism; Elderly; Hyperlipidemia; Diet.
Ano: 2020
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2020000300608

Molecular analysis of the bovine coronavirus S1 gene by direct sequencing of diarrheic fecal specimens
Provedor de dados: Brazilian Journal of Medical and Biological Research
Autores: Takiuchi,E.; Alfieri,A.F.; Alfieri,A.A.
Bovine coronavirus (BCoV) causes severe diarrhea in newborn calves, is associated with winter dysentery in adult cattle and respiratory infections in calves and feedlot cattle. The BCoV S protein plays a fundamental role in viral attachment and entry into the host cell, and is cleaved into two subunits termed S1 (amino terminal) and S2 (carboxy terminal). The present study describes a strategy for the sequencing of the BCoV S1 gene directly from fecal diarrheic specimens that were previously identified as BCoV positive by RT-PCR assay for N gene detection. A consensus sequence of 2681 nucleotides was obtained through direct sequencing of seven overlapping PCR fragments of the S gene. The samples did not undergo cell culture passage prior to PCR...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Bovine coronavirus; S1 gene; Sequencing; Genetic polymorphism.
Ano: 2008
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000400004

Genetic polymorphism of Streptococcus mutans in Brazilian family members
Provedor de dados: Brazilian Journal of Microbiology
Autores: Spolidorio,Denise Madalena Palomari; Höfling,José Francisco; Pizzolitto,Antônio Carlos; Rosa,Edvaldo Antonio; Negrini,Thaís de Cássia; Spolidorio,Luís Carlos.
The aim of this study was to determine whether random amplified polymorphic DNA (AP-PCR) analysis is able to differentiate genetically different clones of mutans streptococci, in 22 Brazilian family members. Stimulated saliva samples were collected from fathers, mothers and infants. For 5-18 months babies with erupting primary dentition, plaque samples were collected using sterile tooth pick tips. From these samples, mutans streptococci were isolated on SB-20 agar plates. After growth, representative colonies were identified by biochemical methods on the basis of carbohydrate fermentation. Streptococcus mutans isolates were obtained from all family members and AP-PCR typed separately with a random primer (OPA-13). Bacterial cell lysates were used as...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Streptococcus mutans; AP-PCR; Genetic polymorphism.
Ano: 2003
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1517-83822003000300006