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The cuttable C-related genotype and allele for the E-cadherin 3’-UTR Pml I polymorphism are associated with higher susceptibility to endometriosis Genet. Mol. Biol.
Hsieh,Yao-Yuan; Chang,Chi-Chen; Tsai,Fuu-Jen; Hsu,Chin-Moo; Lin,Cheng-Chieh; Tsai,Chang-Hai.
Epithelial cadherin (E-cadherin; CDH1) may influence pericellular proteolysis and intracellular signal transduction, which plays an essential part of tumor invasion. In our study we investigated the correlation between CDH1 gene polymorphism and endometriosis in two groups of pre-menopausal Taiwanese women, group 1 (n = 150) consisting of women with severe stage IV endometriosis and group 2 (n = 159) of women with no endometriosis. The polymerase chain reaction (PCR) was used to identify the cuttable (C) and uncuttable (T) polymorphism of the CDH1-Pml I gene (rs1801026) located on the 3’-untranslated region (3’-UTR) of chromosome 16 and compare the genotypes and allelic frequencies of this gene in both groups. We found that the genotype and allele...
Tipo: Info:eu-repo/semantics/other Palavras-chave: Endometriosis; E-cadherin; Polymorphism; SNP.
Ano: 2005 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000500003
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Mitochondrial DNA single nucleotide polymorphism associated with weight estimated breeding values in Nelore cattle (Bos indicus) Genet. Mol. Biol.
Biase,Fernando Henrique; Meirelles,Flávio Vieira; Gunski,Ricardo; Vozzi,Pedro Alejandro; Bezerra,Luiz A.F.; Vila,Reginaldo A.; Rosa,Artur J.M.; Lôbo,Raysildo B.; Martelli,Lúcia.
We sampled 119 Nelore cattle (Bos indicus), 69 harboring B. indicus mtDNA plus 50 carrying Bos taurus mtDNA, to estimate the frequencies of putative mtDNA single nucleotide polymorphisms (SNPs) and investigate their association with Nelore weight and scrotal circumference estimated breeding values (EBVs). The PCR restriction fragment length polymorphism (PCR-RFLP) method was used to detect polymorphisms in the mitochondrial asparagine, cysteine, glycine, leucine and proline transporter RNA (tRNA) genes (tRNAasn, tRNAcys, tRNAgly, tRNAleu and tRNApro). The 50 cattle carrying B. taurus mtDNA were monomorphic for all the tRNA gene SNPs analyzed, suggesting that they are specific to mtDNA from B. indicus cattle. No tRNAcys or tRNAgly polymorphisms were...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Bovine; Mitochondria; MtDNA; SNP; Weight.
Ano: 2007 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000600005
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ESTs and putative line-specific (broiler and layer) SNPs identified in genes expressed in Gallus gallus pituitary and hypothalamus Genet. Mol. Biol.
Cassoli,Clarissa Sanches da Silva; Jorge,Erika Cirstina; Patrício,Mateus; Alves,Helena Javiel; Almeida,Erik Amazonas de; Ledur,Mônica Corrêa; Coutinho,Luiz Lehmann.
Brazilian poultry industry has reached a high level of development in both meat and egg production as a result of constant technological modernization. Further improvements can be achieved through genomics, but before this can be accomplished, a better understanding of gene expression profiles and nucleotide polymorphisms is necessary. Since animal physiology is directly or indirectly controlled by the pituitary and hypothalamus, the aim of the present work was to identify and analyze genes expressed in these tissues in chicken lines with different growth potential. Two pituitary and hypothalamus cDNA libraries from 21 day broiler (TT) and layer (CC) chickens lines were constructed and allowed identification of 3,074 unique sequences and 77 single...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Pituitary; Hypothalamus; EST; SNP; Chicken.
Ano: 2007 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000600008
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Single Nucleotide polymorphisms and their relationship to codon usage bias in the Pacific oyster Crassostrea gigas ArchiMer
Sauvage, Christopher; Bierne, N; Lapegue, Sylvie; Boudry, Pierre.
DNA sequence polymorphism and codon usage bias were investigated in a set of 41 nuclear loci in the Pacific oyster Crassostrea gigas. Our results revealed a very high level of DNA polymorphism in oysters, in the order of magnitude of the highest levels reported in animals to date. A total of 290 single nucleotide polymorphisms (SNPs) were detected, 76 of which being localised in exons and 214 in non-coding regions. Average density of SNPs was estimated to be one SNP every 60 bp in coding regions and one every 40 bp in non-coding regions. Non-synonymous substitutions contributed substantially to the polymorphism observed in coding regions. The non-synonymous to silent diversity ratio was 0.16 on average, which is fairly higher to the ratio reported in other...
Tipo: Text Palavras-chave: Crassostrea gigas; Codon bias; Genetic diversity; SNP.
Ano: 2007 URL: http://archimer.ifremer.fr/doc/2007/publication-3417.pdf
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Diversidade nucleotídica e utilização de SNPs para o mapeamento de genes candidatos em Eucalyptus spp. Infoteca-e
NEVES, L. G.; FARIA, D. A. de; PAPPAS JUNIOR, G. J.; PASQUALI, G.; GRATTAPAGLIA..
bitstream/CENARGEN-2009-09/31528/3/cot180_1008.pdf
Tipo: Comunicado Técnico (INFOTECA-E) Palavras-chave: Diversidade nucleotídica; SNP; Mapeamento genético.; Eucalyptus spp.; Eucalipto.
Ano: 2008 URL: http://www.infoteca.cnptia.embrapa.br/infoteca/handle/doc/191157
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Alternative genotyping method for the single nucleotide polymorphism A2959G (AF159246) of the bovine CAST gene PAB
Curi,Rogério Abdallah; Chardulo,Luis Artur Loyola; Silveira,Antônio Carlos; Oliveira,Henrique Nunes de.
The objective of this work was to genotype the single nucleotide polymorphism (SNP) A2959G (AF159246) of bovine CAST gene by PCR-RFLP technique, and to report its use for the first time. For this, 147 Bos indicus and Bos taurus x Bos indicus animals were genotyped. The accuracy of the method was confirmed through the direct sequencing of PCR products of nine individuals. The lowest frequency of the meat tenderness favorable allele (A) in Bos indicus was confirmed. The use of PCR-RFLP for the genotyping of the bovine CAST gene SNP was shown to be robust and inexpensive, which will greatly facilitate its analysis by laboratories with basic structure.
Tipo: Info:eu-repo/semantics/article Palavras-chave: Calpastatin gene; Meat texture; PCR-RFLP; SNP.
Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-204X2008000500014
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Aromatase gene and its effects on growth, reproductive and maternal ability traits in a multibreed sheep population from Brazil Genet. Mol. Biol.
Lôbo,Ana Maria Bezerra Oliveira; Lôbo,Raimundo Nonato Braga; Paiva,Samuel Rezende.
We determined the polymorphism C242T of the aromatase gene (Cyp19) and its allelic frequency, as well as the effect of the variants on productive and reproductive traits in 71 purebred Santa Inês sheep, 13 purebred Brazilian Somali sheep, nine purebred Poll Dorset sheep, and 18 crossbred 1/2 Dorper sheep. The animals were genotyped using the PCR-RFLP technique. The influence of the animal's genotype on its performance or on the performance of its lambs was analyzed by the least square method. Another factor assessed was the importance of the animal's genotype in analysis models for quantitative breeding value estimates, and whether there were differences among the averages of breeding values of animals with different genotypes for this gene. In the sample...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Body weight; Lambing interval; PCR-RFLP; Polymorphism; SNP; Litter weight.
Ano: 2009 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000300010
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Rol de la calpastatina en la variabilidad de la terneza de la carne bovina JBAG
Motter,MM; Corva,P; Krause,M; Perez Cenci,M; Soria,L..
La calpastatina es una enzima inhibidora de las calpaínas, principales enzimas proteolíticas del músculo esquelético. Está codificada por el gen CAST, a partir del cual se pueden expresar cuatro isoformas proteicas diferentes debido a la existencia de cuatro promotores distintos. Este gen ha sido estudiado como candidato para explicar diferencias de origen genético en la terneza de la carne. En bovinos se han descripto varios polimorfismos del tipo SNP en distintas regiones del gen. Algunos de ellos han sido incluidos en test comerciales por su asociación significativa con la variabilidad en terneza. Recientemente, la investigación se ha focalizado en establecer qué promotores están activos en músculo esquelético y si los mismos presentan polimorfismos...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Calpastatina; Gen CAST; Bovinos; Terneza; SNP.
Ano: 2009 URL: http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S1852-62332009000100003
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Ant colony algorithm for analysis of gene interaction in high-dimensional association data R. Bras. Zootec.
Rekaya,Romdhane; Robbins,Kelly.
In recent years there has been much focus on the use of single nucleotide polymorphism (SNP) fine genome mapping to identify causative mutations for traits of interest; however, many studies focus only on the marginal effects of markers, ignoring potential gene interactions. Simulation studies have show that this approach may not be powerful enough to detect important loci when gene interactions are present. While several studies have examined potential gene interaction, they tend to focus on a small number of SNP markers. Given the prohibitive computation cost of modeling interactions in studies involving a large number SNP, methods need to be develop that can account for potential gene interactions in a computationally efficient manner. This study adopts...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Genome; Simulation; SNP.
Ano: 2009 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-35982009001300011
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Chromosomal localization and molecular marker development of the lipopolysaccharide and beta-1,3-glucan binding protein gene in the Zhikong scallop Chlamys farreri (Jones et Preston) (Pectinoida, Pectinidae) Genet. Mol. Biol.
Huan,Pin; Zhang,Xiaojun; Li,Fuhua; Zhang,Yang; Zhao,Cui; Xiang,Jianhai.
Zhikong scallop Chlamys farreri (Jones et Preston) is an economically important species in China. Understanding its immune system would be of great help in controlling diseases. In the present study, an important immunity-related gene, the Lipopolysaccharide and Beta-1,3-glucan Binding Protein (LGBP) gene, was located on C. farreri chromosomes by mapping several lgbp-containing BAC clones through fluorescence in situ hybridization (FISH). Through the localization of various BAC clones, it was shown that only one locus of this gene existed in the genome of C. farreri, and that this was located on the long arm of a pair of homologous chromosomes. Molecular markers, consisting of eight single nucleotide polymorphism (SNPs) markers and one insertion-deletion...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Chlamys farreri; LGBP; Fluorescence in situ hybridization (FISH); Indel; SNP.
Ano: 2010 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000100008
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Antecedentes y nuevos aportes en el estudio del Cromosoma Y en poblaciones humanas sudamericanas JBAG
Bailliet,Graciela; Ramallo,Virginia; Muzzio,Marina; Santos,María R; Motti,Josefina MB; Bianchi,Néstor O; Bravi,Claudio M.
Los avances en el conocimiento del genoma humano han llegado también a una situación comprensiva en relación a la región específica del cromosoma Y humano. En los últimos años se han reconocido al menos 600 polimorfismos bialélicos (SNP), a partir de los cuales se ha construido una sólida filogenia y se ha normalizado la nomenclatura. En el presente trabajo se han estudiado 940 muestras de varones no relacionados de 10 poblaciones aborígenes de Argentina, Chile y Paraguay; y 12 poblaciones urbanas de Argentina. Se han analizado 9 marcadores bialélicos para reconocer los clados mayores de la filogenia. Fue posible distinguir los haplogrupos Q* y Q3 autóctonos, y los haplogrupos AB, DE, F, K, P y R alóctonos. El Fst fue de 0, 17, mostrando un alto nivel de...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Linajes paternos; Haplogrupos; SNP; Ancestralidad genética; Poblaciones humanas.
Ano: 2011 URL: http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S1852-62332011000100003
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Análise de diversidade genética do gene da osteopontina em bovinos da raça girolando R. Bras. Zootec.
Mello,Fernanda de; Guimarães,Marta Fonseca Martins; Cobuci,Jaime Araújo; Silva,Marcos Vinícius Gualberto Barbosa da; Braccini Neto,José; Paiva,Daisyléa de Souza.
Objetivou-se obter os índices de diversidade genética para o SNP (single nucleotide polymorphism) do íntron 4 do gene da osteopontina (OPN) para 434 animais (87 touros e 347 vacas) participantes do Teste de Progênie da raça girolando no Brasil. Para a amplificação, foram utilizados primers descritos para a raça holandesa, e a diferenciação dos alelos C/T desse SNP foi obtida por meio da técnica de PCR-RFLP. As frequências genotípicas TT (52,53%), CT (38,71%) e CC (8,76%) e as frequências alélicas de T (71,9%) e C (28,1%) indicam que a população encontra-se em Equilíbrio de Hardy-Weinberg (EHW). Apesar de o loco do gene OPN estar em EHW, a frequência superior do alelo T do SNP nesses animais pode sugerir uma tendência de fixação do alelo T na raça. Não foi...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Bovinos leiteiros; Polimorfismo; Produção de leite; SNP; SPP1.
Ano: 2011 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-35982011001100013
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Factor 9 de crecimiento y diferenciación asociado al índice de prolificidad en la oveja pelibuey. Colegio de Postgraduados
Pérez Ruíz, Elizabeth.
El Factor 9 de Crecimiento y Diferenciación (GDF9) es miembro de la súperfamilia β de factores de crecimiento (TGFβ) y su expresión en el ovocito es esencial para el desarrollo y crecimiento folicular. Diferentes mutaciones en el gen GDF9 han sido asociadas con el incremento de tasa de ovulación y/o prolificidad en algunas razas de ovejas, por lo que el objetivo de este estudio fue la búsqueda de polimorfismos de una sola base (SNPs) en el gen GDF9, así como la asociación entre polimorfismos del gen GDF9 y el índice de prolificidad en ovejas de la raza Pelibuey. Se tomaron muestras sanguíneas de la vena yugular de 16 ovejas y fueron conservadas en papel FTA® (Whatman Mini Card). El exón dos del gen fue amplificado mediante la técnica de Polimerase Chain...
Palavras-chave: Análisis de secuencias; GDF9; Mutación; Polimorfismo; PCR; SNP; Sequence analysis; Mutation; Polymorphism; Maestría; Ganadería.
Ano: 2012 URL: http://hdl.handle.net/10521/1712
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Identification of novel single nucleotide polymorphisms in the DGAT1 gene of buffaloes by PCR-SSCP Genet. Mol. Biol.
Raut,Ashwin A.; Kumar,Anil; Kala,Sheo N.; Chhokar,Vinod; Rana,Neeraj; Beniwal,Vikas; Jaglan,Sundeep; Samuchiwal,Sachin K.; Singh,Jitender K.; Mishra,Anamika.
Diacylglycerol O-acyltransferase 1 (DGAT1) is a microsomal enzyme that catalyzes the final step of triglyceride synthesis. The DGAT1 gene is a strong functional candidate for determining milk fat content in cattle. In this work, we used PCR-SSCP (polymerase chain reaction-single-strand conformation polymorphism) and DNA sequencing to examine polymorphism in the region spanning exon 7 to exon 9 of the DGAT1 gene in Murrah and Pandharpuri buffaloes. Three alleles (A, B and C) and four novel single-nucleotide polymorphisms were identified in the buffalo DGAT1 gene. The frequencies of the alleles differed between the two buffalo breeds, with allele C being present in Murrah but not in Pandharpuri buffalo. The allele variation detected in this work may...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Buffalo; DGAT1; PCR-SSCP; Polymorphism; SNP.
Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000400011
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Association of polymorphisms in the leptin and thyroglobulin genes with meat quality and carcass traits in beef cattle R. Bras. Zootec.
Carvalho,Thiago Dutra de; Siqueira,Fabiane; Torres Júnior,Roberto Augusto de Almeida; Medeiros,Sérgio Raposo de; Feijó,Gelson Luís Dias; Souza Junior,Maury Dorta de; Blecha,Isabella Maiumi Zaidan; Soares,Cleber Oliveira.
The objective of the present study was to estimate the allelic and genotypic frequencies of the polymorphisms E2FB (AY138588.1: c.305C> T), located in the leptin gene (LEP), and TG5 (X05380.1:g.-422C>T), located in the thyroglobulin gene (TG), and evaluate the association of these polymorphisms in crossbred cattle of seven distinct genetic groups with the following traits: slaughter weight (SW), hot carcass weight (HCW), hot carcass yield (HCY), carcass fat thickness (CFT), ribeye area (REA), marbling (MARM) and shear force (SF). The animals were genotyped using the PCR-RFLP (Polymorphism Chain Reaction-Restriction Fragment Length Polymorphism) technique, using 201 products obtained from F1 Caracu × Nellore, Angus × Nellore and Valdostana × Nellore...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Fat thickness; Marker-assisted selection; Meat tenderness; Shear force; SNP.
Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-35982012001000004
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Characterization of gene polymorphisms related to immune system physiology in Mangalarga horses Arq. Bras. Med. Vet. Zootec.
Prioli,R.A.; Curi,R.A.; Chardulo,L.A.; Gomes,V.N.; Prioli,S.M.A.P.; Mota,M.D.S..
The objectives of this study were to standardize a PCR-RFLP genotyping method for the AY_731081:g.1900T>C SNP of the equine CD14 gene, and to characterize this SNP and two other polymorphisms (AY_005808: c.1530A>G of the TLR4 gene and AX_463789: g.133T>C of the Cε gene) in Mangalarga horses, in order to contribute to future studies investigating the association between DNA markers and traits related to immune system physiology in this breed. A total of 151 Mangalarga horses of both sexes and variable ages, representative of the population of São Paulo State, were used. PCR-RFLP was found to be adequate for genotyping of the AY_731081: g.1900T>C SNP of the equine CD14 gene. However, this polymorphism is probably not present in Mangalarga horses,...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Horse; CD14; ; SNP; TLR4.
Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0102-09352012000500030
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Genetic association of SNPs in the FTO gene and predisposition to obesity in Malaysian Malays BJMBR
Apalasamy,Y.D.; Ming,M.F.; Rampal,S.; Bulgiba,A.; Mohamed,Z..
The common variants in the fat mass- and obesity-associated (FTO) gene have been previously found to be associated with obesity in various adult populations. The objective of the present study was to investigate whether the single nucleotide polymorphisms (SNPs) and linkage disequilibrium (LD) blocks in various regions of the FTO gene are associated with predisposition to obesity in Malaysian Malays. Thirty-one FTO SNPs were genotyped in 587 (158 obese and 429 non-obese) Malaysian Malay subjects. Obesity traits and lipid profiles were measured and single-marker association testing, LD testing, and haplotype association analysis were performed. LD analysis of the FTO SNPs revealed the presence of 57 regions with complete LD (D’ = 1.0). In addition, we...
Tipo: Info:eu-repo/semantics/article Palavras-chave: FTO gene; SNP; Obesity; Linkage disequilibrium; Haplotypes.
Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2012001200003
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Desarrollo y validación de marcadores moleculares para identificar genotipos de maíz de calidad proteínica. Colegio de Postgraduados
Hernández Rodríguez, Martha.
El maíz (Zea mays L.) de calidad proteínica (QPM) es nutricionalmente superior en comparación con el maíz normal, porque produce semillas con casi el doble de los aminoácidos (aa) lisina (Lys) y triptófano (Trp), esenciales para la síntesis endógena de la vitamina B niacina. Actualmente, la conversión de una línea de maíz normal a una QPM, se acelera mediante la selección asistida por marcadores moleculares (MAS) y métodos de detección química. En este estudio se reporta el desarrollo y validación de marcadores basados en polimorfismos de un solo nucleótido (SNPs) para los loci opaque-2 (o2) y Ask-2, involucrados en la genética de los QPM, así como la interacción de ambos loci para el contenido de 11 aa en el endospermo de dos poblaciones F2 de maíz,...
Palavras-chave: Zea mays; Opaque-2; Ask-2; MAS; QPM; SNP; SSCP; Genética; Doctorado.
Ano: 2013 URL: http://hdl.handle.net/10521/2319
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A C1069G SNP of the MC4R gene and its association with economic traits in Korean native cattle (brown, brindle, and black) Electron. J. Biotechnol.
Lee,Youngsub; Park,Sairom; Kim,Hun; Lee,Seung Kyu; Kim,Jin Woo; Lee,Hak Kyo; Jeong,Dong Kee; Lee,Sung Jin.
Background: The melanocortin-4 receptor gene (MC4R) plays an important role in regulating food intake and body weight in mammals. In the present study, we identified the MC4R gene in native Korean brown, brindle, and black cattle by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP), and investigated its association with economic traits. A total of 413 cattle from the three breeds were tested for backfat thickness, carcass weight, longissimus muscle area, and marbling score, and statistical data were analyzed using the SAS program. Results: The C allele had the highest frequency in brown and brindle cattle, and the G allele frequency was highest in black cattle. The C1069G SNP was significantly (p < 0.05) associated with only...
Tipo: Journal article Palavras-chave: Economic trait; Marbling scores; MC4R gene; PCR-RFLP; SNP.
Ano: 2013 URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-34582013000500014
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Polymorphisms of the bovine chemokine receptor-like 1 gene and their associations with meat quality traits in Qinchuan cattle (Bos taurus) Electron. J. Biotechnol.
Zhan,Xiaoli; Jiang,Bijie; Ma,Xianghui; Fu,Changzhen; Zan,Linsen.
Background: We investigated the polymorphisms of the bovine chemokine receptor-like 1(CMKLR1) gene. The coding region of CMKLR1 was screened in Qinchuan cattle by PCR-RFLP technology. Results: In this study, we discovered two single nucleotide polymorphisms (SNPs) (264G > C and 762C > T) in the coding region of the CMKLR1 gene. Hence, we described the BmgT120l and Pdm1 PCR-RFLP methods for detecting the 64G > C and 762C > T mutations, respectively. PCR-RFLP and sequencing were used to analyze the two loci of CMKLR1 gene in 324 individuals, which were randomly selected from breeding populations. Furthermore, meat quality traits in another 80 Qinchuan individuals were analyzed by the comparison between the genotypes and their phenotypic data....
Tipo: Journal article Palavras-chave: CMKLR1 gene; Meat quality traits; PCR-RFLP; Qinchuan cattle; SNP.
Ano: 2013 URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-34582013000100003
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