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| Registros recuperados: 38 | |
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| 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... |
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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 |
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| 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 |
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| Klautau-Guimarães,Maria de Nazare; DAscenção,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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| Wang,Dong-Wei; Liu,Min; Wang,Ping; Zhan,Xiang; Liu,Yu-Qing; Zhao,Luo-Sha. |
| Abstract Recently, the rs1042713 G > A and rs1042714 C > 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 > A variant in patients with MI or CAD compared to healthy controls. A similar result was also obtained with the rs1042714 C > 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 & 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 |
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| Registros recuperados: 38 | |
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