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| Registros recuperados: 189 | |
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| Souza,Ilíada Rainha de; Culpi,Lodércio. |
| A southern Brazilian isolated community of predominantly sub-Saharan African origin, with a total population of 74 individuals and high degree of inbreeding (F = 0.081) was studied. The small sizes of the breeding (35) and effective (21) populations, as well as the very small effective migration rate (4%), suggest a high probability for the occurrence of genetic drift. A sample was typed for fourteen blood genetic systems and most of these systems seem to reveal the founder effect. This evolutionary factor was probably responsible for the absence of some polymorphic alleles frequent in African populations, i.e.: ABO*B, RHD-RHCE*DCe, GPA-GPB*NS (MNSs*NS), GPA-GPB*NS U (MNSs*NSU), HBB*S, HP*2M and ESD*2. The most unusual allele frequency was that for BCHE*A,... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Isolated community; Polymorphism; Random genetic drift; Blood systems; Admixture. |
| Ano: 2005 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000300012 |
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| Topic,Aleksandra; Juranic,Zorica; Jelic,Svetislav; Magazinovic,Ivana Golubicic. |
| Alpha-1-antitrypsin (AAT) or serine protease inhibitor A1 (SERPINA1) is an important serine protease inhibitor in humans. The main physiological role of AAT is to inhibit neutrophil elastase (NE) released from triggered neutrophils, with an additional lesser role in the defense against damage inflicted by other serine proteases, such as cathepsin G and proteinase 3. Although there is a reported association between AAT polymorphism and different types of cancer, this association with hematological malignancies (HM) is, as yet, unknown. We identified AAT phenotypes by isoelectric focusing (in the pH 4.2-4.9 range) in 151 serum samples from patients with HM (Hodgkins lymphomas, non-Hodgkins lymphomas and malignant monoclonal gammopathies). Healthy... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Alpha-1-antitrypsin; Polymorphism; Lymphomas. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000400008 |
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| Ohsaka,Yasuhito; Nishino,Hoyoku. |
| Research has been conducted to identify sequence polymorphisms of gene promoter regions in patients and control subjects, including normal individuals, and to determine the influence of these polymorphisms on transcriptional regulation in cells that express wild-type or mutant p53. In this study we isolated genomic DNA from whole blood of healthy Japanese individuals and sequenced the promoter regions of the MDM2, p53, and p16INK4a genes. We identified polymorphisms comprising 3 nucleotide substitutions at exon 1 and intron 1 regions of the MDM2 gene and 1 nucleotide insertion at a poly(C) nucleotide position in the p53 gene. The Japanese individuals also exhibited p16INK4a polymorphisms at several positions, including position -191. Reporter gene analysis... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Murine double minute 2; Polymorphism; P16INK4a; P53; Transcription. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000400004 |
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| Huang,Hua-Tuo; Guo,Jing; Xiang,Yang; Chen,Jian-Ming; Luo,Hong-Cheng; Meng,Lan-Qing; Wei,Ye-Sheng. |
| Abstract Cluster of differentiation 40 (CD40), the receptor for CD154, is a member of the tumor necrosis factor (TNF) receptor superfamily. Several studies have been conducted to investigate the effect of the CD40 rs1883832 polymorphism on atherosclerotic disease in different population; however, inconsistent results were obtained. In this study, we investigated the association of four polymorphisms (rs1883832, rs13040307, rs752118 and rs3765459) of CD40 gene and their effect on CD40 expression with the risk of ischemic stroke (IS) in a Chinese population. Three hundred and eighty patients with IS and 450 control subjects were included in the study. The CD40 polymorphisms were discriminated by Snapshot SNP genotyping assay. Serum soluble CD40 (sCD40)... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: CD40; Gene; Polymorphism; Ischemic stroke. |
| Ano: 2017 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000300442 |
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| 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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| Gasparotto,Aline Simas; Borges,Diego Olschowsky; Zandoná,Marília Remuzzi; Ramos,Mauricio Jacques; Meihnardt,Nelson Guardiola; Mattevi,Vanessa S.. |
| Abstract Our aim was to investigate if single nucleotide polymorphisms (SNPs) located in the 5′ regions of leptin (LEP, -2548 G > A, rs7799039), resistin (RETN, -420 C > G, rs1862513) and adiponectin (ADIPOQ, -11391 G > A, rs17300539 and -11377 C > G, rs266729) genes were related to changes in body mass index (BMI) and metabolic variables after bariatric surgery in 60 extremely obese individuals. At baseline, ADIPOQ -11391 A-allele carriers showed higher plasma adiponectin and lower total cholesterol levels when compared to G/G homozygotes. Approximately 32 months post-surgery, a mean reduction of 35% in BMI and an important improvement in metabolic profiles were observed. In addition, for the ADIPOQ -11377 polymorphism, a higher decrease in... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Adiponectin; Polymorphism; Obesity; Lipid profile; Bariatric surgery. |
| Ano: 2017 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000500736 |
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| Otaviano,Antonio Roberto; Tonhati,Humberto; Sena,Janete Aparecida Desidério; Cerón Muñoz,Mario Fernando. |
| Caseins comprise make up about 80% of the total protein content of milk and present polymorphism with changes in the amino acid sequence. Within this abundance of proteins, kappa-casein is noteworthy, since it has been associated with differences in milk yield, composition and processing. The objective of this study was to observe the existence of polymorphism in the kappa-casein gene in female buffaloes. For this purpose, blood samples from 115 female buffaloes, collected with vacutainer by needle punctionure of the jugular vein, were used. for genomic DNA extraction was done from blood samples. The PCR-RFLP and SSCP techniques demonstrated that the studied animals were monomorphic for the kappa-casein gene. Only allele B was observed in these animals,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Buffaloes; Polymorphism; PCR-RFLP; SSCP. |
| Ano: 2005 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000200010 |
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| Amoli,Mahsa M.; Amiri,Parvin; Tavakkoly-Bazzaz,Javad; Charmchi,Elham; Hafeziyeh,Jila; Keramatipour,Mohammad; Abiri,Maryam; Ranjbar,Shirin Hasani; Larijani,Bagher. |
| The transcription factor 7-like 2 gene (TCF7L2) rs7903146 T allele is constantly associated with Type 2 diabetes in various populations and ethnic groups. Nevertheless, this has not been observed in two studies involving Arab populations. The aim of the present study was to investigate the association between TCF7L2 rs7903146 in an Iranian population. Type 2 diabetes patients (N = 258) and normal healthy control subjects (N = 168) from the same area, were examined. The ARMS-PCR (Amplification Refractory Mutation System) technique, subsequently validated by direct sequencing, was used for genotyping. Allele and genotype frequencies were significantly different between patients and controls TT vs. CT + CC [p 0.0081 OR 3.4 95%CI (1.27-11.9)] and T vs. C... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: TCF7L2; Gene; Polymorphism; T2DM. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000300010 |
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| Hubácek,Jaroslav A.; Adámková,Věra; Šedová,Lenka; Olišarová,Věra; Adámek,Václav; Tóthová,Valérie. |
| Abstract Lactase non-persistence (leading to primary lactose intolerance) is a genetically dependent inability to digest lactose in adulthood. As part of the human adaptation to dairying, the human lactase LCT-13910C/T mutation (which propagates adult expression of lactase) developed, spread and participated in the adaptation to dairying. This variant is associated with lactase activity persistence, and its carriers are able to digest lactose. We compared the frequencies of lactase 13910C/T (rs4988235) genotypes in Czechs/Slavs (N = 288) and Czech Gypsies/Roma (N = 300), two ethnically different groups where this polymorphism has not yet been analysed. Allelic frequencies significantly differed between the populations (p < 0.0001). In Czechs/Slavs, the... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Lactose; Lactase persistence; Polymorphism; Czech/Slav; Czech Gypsy/Roma. |
| Ano: 2017 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000300450 |
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| Tomasco,Ivanna; Wlasiuk,G.; Lessa,E.P.. |
| The allele frequencies of 10 microsatellite loci previously described for sheep as BM1314, BM6526, OarFCB128, OarHH64, OarCP20, OarHH47, OarFCB48, OarHH35, OarHH72 and BM2508 were estimated for the Uruguayan flocks. A representative sample of 101 individuals composed by the two predominant breeds (76% Corriedale and 24% Australian Merino) was used. The sample did not show a significant tendency towards substructuring, in spite of presenting some significantly different allele frequencies between races. The Corriedale sample presents three loci in which the presence of null alleles is possible. The markers were highly variable, showing between 7 and 15 alleles each. The Polymorphism Information Content Index ranged from 0.63 to 0.87 and the Exclusion... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Sheep; Polymorphism; Microsatellites. |
| Ano: 2002 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000100008 |
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| Fu,Lei; Wang,Rong; Yin,Ling; Shang,Xiaopu; Zhang,Runtong; Zhang,Pengjun. |
| Abstract We aimed to analyze the correlation between ABCG2 gene polymorphisms of 34 GG/(GA + AA) loci, 421 CC/(AC + AA) loci, and non-small cell lung cancer (NSCLC) therapeutic effects via meta-analysis. With key words, the databases PubMed and EMBASE were searched for clinical studies on ABCG2 polymorphism and NSCLC. RR and 95% CIs were used to compute combined effects, followed by heterogeneity testing. Publication bias was examined using the funnel plot method. Review Manager 5.3 software was used for the meta-analysis. Ten studies were included. No evidence of heterogeneity exists in these studies. The results indicate that two polymorphic loci of ABCG2 gene (34 G>A, and 421 C>A) had no relationship with the curative effect of chemotherapy for... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: ABCG2; Polymorphism; Non-small cell lung cancer; Chemotherapy; Meta-analysis. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000500105 |
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| Cothran,E. Gus; Juras,Rytis; Macijauskiene,Vale. |
| Genetic variation in Zemaitukai horses was investigated using mitochondrial DNA (mtDNA) sequencing. The study was performed on 421 bp of the mitochondrial DNA control region, which is known to be more variable than other sections of the mitochondrial genome. Samples from each of the remaining maternal family lines of Zemaitukai horses and three random samples for other Lithuanian (Lithuanian Heavy Draught, Zemaitukai large type) and ten European horse breeds were sequenced. Five distinct haplotypes were obtained for the five Zemaitukai maternal families supporting the pedigree data. The minimal difference between two different sequence haplotypes was 6 and the maximal 11 nucleotides in Zemaitukai horse breed. A total of 20 nucleotide differences compared... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: D-loop; Equus caballus; Phylogeny; Polymorphism. |
| Ano: 2005 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000500006 |
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| Liang,Qinglong; Wei,Lei; Wang,Xinwei; He,Hongxuan. |
| MHC class I proteins mediate functions in anti-pathogen defense. MHC diversity has already been investigated by many studies in model avian species, but here we chose the bar-headed goose, a worldwide migrant bird, as a non-model avian species. Sequences from exons encoding the peptide-binding region (PBR) of MHC class I molecules were isolated from liver genomic DNA, to investigate variation in these genes. These are the first MHC class I partial sequences of the bar-headed goose to be reported. A preliminary analysis suggests the presence of at least four MHC class I genes, which share great similarity with those of the goose and duck. A phylogenetic analysis of bar-headed goose, goose and duck MHC class I sequences using the NJ method supports the idea... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: MHC I; Anser indicus; Polymorphism; Phylogenetic analysis. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000300031 |
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| Registros recuperados: 189 | |
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