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NCAPG is differentially expressed during longissimus muscle development and is associated with growth traits in Chinese Qinchuan beef cattle Genet. Mol. Biol.
Liu,Yu; Duan,Xiaoyan; Chen,Si; He,Hua; Liu,Xiaolin.
Abstract Based on RNA-seq analysis, we recently found that the bovine NCAPG (non-SMC condensin I complex, subunit G) gene is differentially expressed during development of the longissimus muscle. In the present study, we validated this result and, using quantitative real-time PCR analysis, identified two adjacent genes, LCORL and DCAF16, that are more abundant in fetal muscle tissue; further analysis of tissue-specific expression patterns indicated high abundance of NCAPG in muscle. Since no polymorphisms were detected in a previous study of Qinchuan cattle, we extended our investigation to examine the occurrence of single-nucleotide polymorphisms (SNPs) in the NCAPG gene. Three SNPs, i.e., one located in the intron region (g47747: T > G), a synonymous...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Association analysis; Growth traits; Longissimus muscle; NCAPG expression; Single nucleotide polymorphism.
Ano: 2015 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000400450
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Comparison of the effectiveness of microsatellites and SNP panels for genetic identification, traceability and assessment of parentage in an inbred Angus herd Genet. Mol. Biol.
Fernández,María E.; Goszczynski,Daniel E.; Lirón,Juan P.; Villegas-Castagnasso,Egle E.; Carino,Mónica H.; Ripoli,María V.; Rogberg-Muñoz,Andrés; Posik,Diego M.; Peral-García,Pilar; Giovambattista,Guillermo.
During the last decade, microsatellites (short tandem repeats or STRs) have been successfully used for animal genetic identification, traceability and paternity, although in recent year single nucleotide polymorphisms (SNPs) have been increasingly used for this purpose. An efficient SNP identification system requires a marker set with enough power to identify individuals and their parents. Genetic diagnostics generally include the analysis of related animals. In this work, the degree of information provided by SNPs for a consanguineous herd of cattle was compared with that provided by STRs. Thirty-six closely related Angus cattle were genotyped for 18 STRs and 116 SNPs. Cumulative SNPs exclusion power values (Q) for paternity and sample matching...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Microsatellite; Single nucleotide polymorphism; Exclusion probability; Genetic identification; Bovine.
Ano: 2013 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000200008
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Urokinase gene 3'-UTR T/C polymorphism is not associated with bladder cancer Genet. Mol. Biol.
Hsi-Chin,Wu; Chao-Hsiang,Chang; Wen-Chi,Chen; Huey-Yi,Chen; Fuu-Jen,Tsai.
Urokinase degrades basement proteins and is hypothesized to play a role in cancer progression. We investigated the hypothesis of C/T polymorphism in the 3'-untranslated region (3'-UTR) of the urokinase gene being associated with the development of bladder cancer. Such an association seems unlikely, since the genotype distributions in 114 bladder cancer patients did not differ from those of 105 controls.
Tipo: Info:eu-repo/semantics/article Palavras-chave: Urokinase; Bladder cancer; Single nucleotide polymorphism.
Ano: 2004 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000100003
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The association between adult-type hypolactasia and symptoms of functional dyspepsia Genet. Mol. Biol.
Wortmann,André Castagna; Simon,Daniel; Mazzoleni,Luiz Edmundo; Sander,Guilherme Becker; Francesconi,Carlos Fernando de Magalhães; Nabinger,Débora Dreher; Grott,Camila Schultz; Rech,Tássia Flores; Mazzoleni,Felipe; Lunge,Vagner Ricardo; Bona,Laura Renata de; Milbradt,Tobias Cancian; Silveira,Themis Reverbel da.
Abstract Functional dyspepsia and lactose intolerance (adult-type hypolactasia, ATH) are common conditions that may coexist or even be confounded. Their clinical presentation can be similar, however, lactose intolerance does not form part of the diagnostic investigation of functional dyspepsia. Studies on the association between functional dyspepsia and ATH are scarce. This study aimed to evaluate whether ATH is associated with symptoms of functional dyspepsia. Patients fulfilling the Rome III diagnostic criteria for functional dyspepsia underwent genetic testing for ATH. Dyspeptic symptoms were evaluated and scored according to a validated questionnaire. The diagnostic criteria for ATH was a CC genotype for the -13910C/T polymorphism, located upstream of...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Bloating; Dyspepsia; Gastrointestinal diseases; Lactose intolerance; Single nucleotide polymorphism.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100092
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Genetic association of single nucleotide polymorphisms in dystrobrevin binding protein 1 gene with schizophrenia in a Malaysian population Genet. Mol. Biol.
Tan,Grace Kang Ning; Tee,Shiau Foon; Tang,Pek Yee.
Dystrobrevin binding protein 1 (DTNBP1) gene is pivotal in regulating the glutamatergic system. Genetic variants of the DTNBP1 affect cognition and thus may be particularly relevant to schizophrenia. We therefore evaluated the association of six single nucleotide polymorphisms (SNPs) with schizophrenia in a Malaysian population (171 cases; 171 controls). Associations between these six SNPs and schizophrenia were tested in two stages. Association signals with p < 0.05 and minor allele frequency > 0.05 in stage 1 were followed by genotyping the SNPs in a replication phase (stage 2). Genotyping was performed with sequenced specific primer (PCR-SSP) and restriction fragment length polymorphism (PCR-RFLP). In our sample, we found significant associations...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Case-control study; DTNBP1; Schizophrenia; Single nucleotide polymorphism.
Ano: 2015 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000200138
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Relationship between XPD, RAD51, and APEX1 DNA repair genotypes and prostate cancer risk in the male population of Rio de Janeiro, Brazil Genet. Mol. Biol.
Cypriano,Ana Sheila; Alves,Gilda; Ornellas,Antonio Augusto; Scheinkman,José; Almeida,Renata; Scherrer,Luciano; Lage,Claudia.
Abstract Susceptibility to cancer ensues in individuals carrying malfunctioning DNA repair mechanisms. The impact of Single Nucleotide Polymorphisms (SNPs) in key DNA repair mechanisms on risk for prostate cancer was investigated in this case-control study. Samples consisted of 110 patients with confirmed prostate cancer and 200 unaffected men, from Rio de Janeiro, Brazil. XPD/Lys751Gln (rs13181), APEX1/Asp148Glu (rs1130409), and RAD51/G135C (rs1801320) SNPs were analyzed by PCR-RFLP. Allelic and genotypic frequencies were calculated and compared by Chi-Square test. The association between SNPs and clinical/epidemiological data was considered significant by Odds Ratio analysis, with IC95% and a p-value≤0.05. Only the XPD/Lys751Gln SNP significantly...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Prostate cancer; Single nucleotide polymorphism; XPD; DNA repair; Gene-environment interaction.
Ano: 2017 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000500751
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Genome-wide association study of drought-related resistance traits in Aegilops tauschii Genet. Mol. Biol.
Qin,Peng; Lin,Yu; Hu,Yaodong; Liu,Kun; Mao,Shuangshuang; Li,Zhanyi; Wang,Jirui; Liu,Yaxi; Wei,Yuming; Zheng,Youliang.
Abstract The D-genome progenitor of wheat (Triticum aestivum), Aegilops tauschii, possesses numerous genes for resistance to abiotic stresses, including drought. Therefore, information on the genetic architecture of A. tauschii can aid the development of drought-resistant wheat varieties. Here, we evaluated 13 traits in 373 A. tauschii accessions grown under normal and polyethylene glycol-simulated drought stress conditions and performed a genome-wide association study using 7,185 single nucleotide polymorphism (SNP) markers. We identified 208 and 28 SNPs associated with all traits using the general linear model and mixed linear model, respectively, while both models detected 25 significant SNPs with genome-wide distribution. Public database searches...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Aegilops tauschii; Drought resistance; Genome-wide association study; Single nucleotide polymorphism; Wheat.
Ano: 2016 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000300398
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Cytochrome P450c17alpha (CYP17) gene polymorphism is not associated with leiomyoma susceptibility Genet. Mol. Biol.
Yao-Yuan,Hsieh; Fuu-Jen,Tsai; Chi-Chen,Chang; Chang-Hai,Tsai; Cheng-Chieh,Lin; Lian-Shun,Yeh.
Estrogen plays a role in the pathogenesis of leiomyoma. The CYP17 gene codes for the cytochrome P450c17alpha enzyme, which is involved in the biosynthesis of estrogen. Our aim was to investigate if CYP17 polymorphism could be a useful marker to predict the susceptibility to leiomyoma. Our sample of female subjects was divided into two groups: (1) with leiomyoma (n = 159); (2) without leiomyoma (n = 128). A 169-bp fragment encompassing the A1/A2 polymorphic site of the CYP17 gene was amplified by polymerase chain reaction (PCR), restricted by enzyme MspA1I and electrophored on agarose gel. Genotypes and allelic frequencies for this polymorphism in both groups were compared. There was no significant difference between the two groups regarding the...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Cytochrome P450c17; CYP17; Leiomyoma; Single nucleotide polymorphism.
Ano: 2002 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000400002
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Is a non-synonymous SNP in the HvAACT1 coding region associated with acidic soil tolerance in barley? Genet. Mol. Biol.
Ferreira,Jéssica Rosset; Faria,Bruna Franciele; Comar Junior,Moacyr; Delatorre,Carla Andréa; Minella,Euclydes; Pereira,Jorge Fernando.
Abstract The barley HvAACT1 gene codes for a citrate transporter associated with tolerance to acidic soil. In this report, we describe a single nucleotide polymorphism (SNP) in the HvAACT1 coding region that was detected as T-1,198 (in genotypes with lower root growth on acidic soil) or G-1,198 (greater root growth) and resulted in a single amino acid change (L/V-172). Molecular dynamic analysis predicted that HvAACT1 proteins with L or V-172 were stable, although the substitution led to structural changes within the protein. To evaluate the effect of the SNP on tolerance to acidic soil, barley accessions were separated into haplotypes based on the presence of a 1 kb insertion in the HvAACT1 promoter and a 21 bp insertion/deletion. These markers and the...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Aluminium tolerance; Citrate transporter; Haplotype; Hordeum vulgare; Single nucleotide polymorphism.
Ano: 2017 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000300480
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Linkage disequilibrium and past effective population size in native Tunisian cattle Genet. Mol. Biol.
Jemaa,Slim Ben; Thamri,Nejia; Mnara,Sofiane; Rebours,Emmanuelle; Rocha,Dominique; Boussaha,Mekki.
Abstract To carry out effective genome-wide association studies, information about linkage disequilibrium (LD) is essential. Here, we used medium-density SNP chips to provide estimates of LD in native Tunisian cattle. The two measures of LD that were used, mean r2 and D’, decreased from 0.26 to 0.05 and from 0.73 to 0.40, respectively, when the distance between markers increased from less than 20 Kb to 200 Kb. The decay in LD over physical distance occurred at a faster rate than that reported for European and other indigenous breeds, and reached background levels at less than 500 Kb distance. This is consistent with the absence of strong selective pressure within the Tunisian population and suggests that, in order to be effective, any potential genome-wide...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Tunisian cattle; Conservation; Linkage disequilibrium; Effective population size; Single nucleotide polymorphism.
Ano: 2019 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000100052
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Genotipagem por meio de marcadores SNP em cevada (Hordeum vulgare): um estudo de caso em cultivares e populações resultantes de retrocruzamentos. Infoteca-e
MUDADU, M. de A.; LAU, E. Y.; PEREIRA, J. F.; MINELLA, E..
Este documento representa o primeiro passo no sentido de aumentar a utilização de marcadores SNP em cevada por grupos de pesquisa no Brasil. As formas de obtenção e análise dos dados são detalhadas utilizando-se estudo de caso sobre diversidade genética de cultivares e incorporação de um importante gene por meio de cruzamento e retrocruzamentos. Este relato aproveita a experiência de pesquisadores da Embrapa Trigo e da Embrapa Informática Agropecuária e abre a possibilidade para que milhares de marcadores SNP possam ser utilizados para diferentes finalidades, potencializando um melhoramento de cevada mais preciso e com maiores ganhos genéticos.
Tipo: Documentos (INFOTECA-E) Palavras-chave: Marcador molecula; Chip SNP; Genotipagem; Melhoramento genético; Cevada; Hordeum Vulgare; Single nucleotide polymorphism; Genetic improvement; Genotyping.
Ano: 2019 URL: http://www.infoteca.cnptia.embrapa.br/infoteca/handle/doc/1116075
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AnotaSNP: software para organização de informações de anotação de genes em estudos de associação genômica ampla. Infoteca-e
HIGA, R. H.; OLIVEIRA, G. B. de.
Este documento apresenta o manual do software anotaSNP, que tem por objetivo apoiar pesquisadores na análise de experimentos envolvendo estudos de associação genótipo-fenótipo.
Tipo: Documentos (INFOTECA-E) Palavras-chave: Estudos de associação genômica ampla; Anotação de SNP; Computer software; Single nucleotide polymorphism.
Ano: 2014 URL: http://www.infoteca.cnptia.embrapa.br/infoteca/handle/doc/1009333
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Geographic isolation and larval dispersal shape seascape genetic patterns differently according to spatial scale ArchiMer
Dalongeville, Alicia; Andrello, Marco; Mouillot, David; Lobreaux, Stephane; Fortin, Marie-josee; Lasram, Frida; Belmaker, Jonathan; Rocklin, Delphine; Manel, Stephanie.
Genetic variation, as a basis of evolutionary change, allows species to adapt and persist in different climates and environments. Yet, a comprehensive assessment of the drivers of genetic variation at different spatial scales is still missing in marine ecosystems. Here, we investigated the influence of environment, geographic isolation, and larval dispersal on the variation in allele frequencies, using an extensive spatial sampling (47 locations) of the striped red mullet (Mullus surmuletus) in the Mediterranean Sea. Univariate multiple regressions were used to test the influence of environment (salinity and temperature), geographic isolation, and larval dispersal on single nucleotide polymorphism (SNP) allele frequencies. We used Moran's eigenvector maps...
Tipo: Text Palavras-chave: Connectivity; Ecological genetics; Marine fish; Mediterranean Sea; Mullus surmuletus; Seascape genetics; Single nucleotide polymorphism.
Ano: 2018 URL: https://archimer.ifremer.fr/doc/00454/56556/75079.pdf
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Population Genetics of the Eastern Oyster Crassostrea virginica (Gmelin, 1791) in the Gulf of Mexico ArchiMer
Varney, Robin L.; Galindo, Clara; Cruz, Pedro; Gaffney, Patrick M..
Genetic variation in eastern oysters (Crassostrea virginica) collected from 13 sites in the Gulf of Mexico was examined using a combination of mitochondrial DNA (mtDNA) sequencing, mtDNA restriction fragment length polymorphism analysis, and nuclear single nucleotide polymorphism analysis. Both mitochondrial and nuclear markers showed significant differentiation among samples. Combined with previous allozyme and microsatellite data, these results indicate considerable population subdivision throughout the Gulf of Mexico, despite the potentially homogenizing effect of larval dispersal.
Tipo: Text Palavras-chave: Gulf of Mexico; Mitochondrial DNA; Single nucleotide polymorphism; Genetics; Oyster; Crassostrea virginica.
Ano: 2009 URL: http://archimer.ifremer.fr/doc/2009/publication-7397.pdf
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Evaluation of six nucleotide polymorphisms for bovine traceability in the context of the Argentine-Chinese beef trade JBAG
Ripoli,M.V; Wei,S; Rogberg-Muñoz,A; Guo,B.L; Goszczynski,D.E; Fernandez,M.E; Mellucci,L; Lirón,J.P; Villarreal,E; Wei,Y.M; Giovambattista,G.
Genetic traceability refers to methods associated with the identification of animals and their products through DNA characterization of individuals, breeds or species. To trace breeds, it is necessary to define the breed groups to analyze, and the most appropriate molecular marker set. The selection of genetic markers depends on the gene frequency distribution, the genetic distance among breeds and the presence of private alleles. In this study, we assessed six single nucleotide polymorphisms (SNPs) located in the DGAT1, TG, LEP, GH, FABP4 and GnRHR genes, as potential genetic markers to be included into a panel for genetic traceability for the identification of breed origin associated with the bovine beef trade. The results of the genetic characterization...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Breed traceability; Genetic traceability; Single nucleotide polymorphism; Chinese cattle; Argentine cattle.
Ano: 2013 URL: http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S1852-62332013000300004
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Bovine &#956;-calpain (CAPN1) gene polymorphisms in Brangus and Brahman bulls JBAG
Soria,LA; Corva,PM; Huguet,MJ; Miño,S; Miquel,MC.
The bovine CAPN1 gene encodes the large subunit of &#956;-calpain, which is thought to be one of the most important enzymes involved in postmortem beef tenderization. Three SNPs in CAPN1 (SNP 316, SNP 530 and SNP 4751) have been associated with beef tenderness in different beef cattle breeds. The objective of this work was to implement genotyping strategies for CAPN1 markers as part of a project pursuing the identifi cation and validation of molecular markers associated with bovine meat quality and composition. Three PCR-RFLP methods were designed to determine genotypes of 64 bulls (11 Angus, 43 Brangus and 10 Brahman). Unexpected patterns resulting from the PCR-RFLP analysis at SNP 316 and SNP 530 were resolved by cloning and sequencing and lead to...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Beef cattle; Meat tenderness; U-calpain; Molecular markers; Single nucleotide polymorphism.
Ano: 2010 URL: http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S1852-62332010000100007
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Runs of homozygosity for autozygosity estimation and genomic analysis in production animals PAB
Rebelato,Arnaldo Basso; Caetano,Alexandre Rodrigues.
Abstract: Runs of homozygosity (ROHs) are long stretches of homozygous genomic segments, identifiable by molecular markers, which can provide genomic information for accurate estimates to characterize populations, determine evolutionary history and demographic information, estimate levels of consanguinity, and identify selection signatures in production animals. This review paper aims to perform a survey of the works on the efficiency of ROHs for these purposes. Factors such as genetic drift, natural or artificial selection, founder effect, and effective population size directly influence the size and distribution of ROHs along the genome. Individually, genome estimates of consanguinity based on ROHs can be obtained using the FROH index, which is generally...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Autozygosity; FROH; Genotyping; Selection signatures; Single nucleotide polymorphism; SNPs.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-204X2018000900975
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Effects of melanocortin 1 receptor (MC1R) gene polymorphisms on plumage color in mule ducks R. Bras. Zootec.
Tu,Yi-Chen; Wei,Liang-Yuan; Chang,Yi-Ying; Liu,Hsiu-Chou; Lee,Hsien-Hsiung; Yu,Yu-Hsiang; Chen,Ming-Cheng.
ABSTRACT The objective of the present study was to investigate the effect of single nucleotide polymorphism (SNP) of the melanocortin 1 receptor (MC1R) gene on plumage coloration in mule ducks. PCR-high-resolution melting analysis (PCR-HRM) and DNA sequencing were used to identify the SNP variability of the MC1R gene in white common ducks. Three non-synonymous SNP (MC1R gene exon 1, c.52G>A, c.376G>A, and c.409G>A) were identified in white Tsaiya ducks. Mating test (white Tsaiya ducks × white Muscovy drakes) in combination with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was performed to investigate the effect of non-synonymous SNP of different maternal lines on plumage coloration in mule ducks. Genotyping results...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Muscovy drakes; Polymerase chain reaction-restriction fragment length polymorphism; Single nucleotide polymorphism; Tsaiya ducks.
Ano: 2019 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-35982019000100305
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Systems biology approach to study the high altitude adaptation in tibetans BABT
De,Bi; Huajun,Xiao; Cuihong,Zhou; Jun,Zhou; Xiaoyan,Deng; Xiaopeng,Liu.
The aim of this work was to study an integrative systems biology research strategy to construct a network including the protein-protein interactions (PPIs) and microRNAs (miRNAs) and identify the functional biological processes and pathways for high-altitude adaptation in Tibetans. The pathway enrichment analysis revealed that the genes in the network were mainly involved in signling the pathways and the function of microRNAs was concentrated in the signling pathways, which suggested that miRNAs might contribute to the Tibetans high-altitude adaptation through the participation in signaling pathway. These results contribute to better understanding on the high-altitude adaptation of the Tibetans.
Tipo: Info:eu-repo/semantics/article Palavras-chave: Systems biology; Tibetan; High-altitude adaptation; Single nucleotide polymorphism; MicroRNA.
Ano: 2013 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-89132013000100007
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Association between toll-like receptor2 Arg677Trp and 597T/C gene polymorphisms and pulmonary tuberculosis in Zahedan, Southeast Iran BJID
Naderi,Mohammad; Hashemi,Mohammad; Hazire-Yazdi,Leylisadat; Taheri,Mohsen; Moazeni-Roodi,Abdolkarim; Eskandari-Nasab,Ebrahim; Bahari,Gholamreza.
BACKGROUND: It is well known that toll-like receptor 2 (TLR2) mediates responses of both innate and adaptive immunity to microbial pathogen, including mycobacteria. Single-nucleotide polymorphisms (SNPs) in the TLR2 gene that impair its function may be associated with the development of pulmonary tuberculosis (PTB). The aim of this study was to evaluate the possible association between TLR2 Arg677Trp and 597T/C polymorphisms and PTB in a sample of Iranian population. MATERIALS AND METHODS: This case-;control study was performed on 174 PTB and 177 healthy subjects. Tetra amplification refractory mutation system-polymerase chain reaction (TARMS-PCR) was used to detect the SNPs. RESULTS: There was no significant difference in the polymorphism of Arg677Trp of...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Tuberculosis; TLR2; Single nucleotide polymorphism.
Ano: 2013 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1413-86702013000500002
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