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Registros recuperados: 190 | |
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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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Sun,Luning; Li,Chunyi; Song,Xiaoyu; Zheng,Ningning; Zhang,Haipeng; Dong,Guizhang. |
Mucopolysaccharidosis type I (MPS I) arises from a deficiency in the α-L-iduronidase (IDUA) enzyme. Although the clinical spectrum in MPS I patients is continuous, it was possible to recognize 3 phenotypes reflecting the severity of symptoms, viz., the Hurler, Scheie and Hurler/Scheie syndromes. In this study, 10 unrelated Chinese MPS I families (nine Hurler and one Hurler/Scheie) were investigated, and 16 mutant alleles were identified. Three novel mutations in IDUA genes, one missense p.R363H (c.1088G > A) and two splice-site mutations (c.1190-1G > A and c.792+1G > T), were found. Notably, 45% (nine out of 20) and 30% (six out of 20) of the mutant alleles in the 10 families studied were c.1190-1G > A and c.792+1G > T, respectively. The... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Mucopolysaccharidosis type I; Α-L-iduronidase; Mutation; Polymorphism. |
Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000200004 |
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Ito,Kennya F.; Renesto,Erasmo; Zawadzki,Cláudio H.. |
Two syntopic morphotypes of the genus Hypostomus - H. nigromaculatus and H. cf. nigromaculatus (Atlântico Stream, Paraná State) - were compared through the allozyme electrophoresis technique. Twelve enzymatic systems (AAT, ADH, EST, GCDH, G3PDH, GPI, IDH, LDH, MDH, ME, PGM and SOD) were analyzed, attributing the score of 20 loci, with a total of 30 alleles. Six loci were diagnostic (Aat-2, Gcdh-1, Gpi-A, Idh-1, Ldh-A and Mdh-A), indicating the presence of interjacent reproductive isolation. The occurrence of few polymorphic loci acknowledge two morphotypes, with heterozygosity values He = 0.0291 for H. nigromaculatus and He = 0.0346 for H. cf. nigromaculatus. F IS statistics demonstrated fixation of the alleles in the two morphotypes. Genetic identity (I)... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Allozymes; Hypostomus nigromaculatus; Fish genetics; Genetic distance; Polymorphism. |
Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000100008 |
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Choudhary,Vivek; Kumar,Pushpendra; Bhattacharya,Tarun K.; Bhushan,Bharat; Sharma,Arjava. |
Leptin plays an important role in the regulation of feed intake, energy metabolism, growth and reproduction of cattle. We used the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique to screen for DNA polymorphisms of the leptin gene in 403 cattle belonging to various breeds of Bos indicus (Hariana, Sahiwal, Gir and Nimari cattle), Bos taurus (Holstein Friesian (HF) and Jersey cattle) as well as Bos taurus x Bos indicus crossbreds (½ HF x ½ Hariana). In all the cattle we amplified two regions of the leptin gene, a 522 bp fragment comprising the partial intron 2 and exon 3 and another 94 bp fragment consisting of part of exon 2. Digestion of 522 bp PCR products with the BsaAI restriction enzyme revealed three genotypes in... |
Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Leptin gene; PCR-RFLP; Polymorphism; Bos indicus; Bos taurus. |
Ano: 2005 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000500014 |
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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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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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Hubacek,Jaroslav A.; Lanska,Vera; Adamkova,Vera. |
Smoking has a significant heritable component of approximately 30-60%. Recent genome wide association studies have identified single nucleotide polymorphisms (SNPs) within the nicotinic cholinergic receptor subunits 3 (rs578776), 5 (rs16969968) and β3 (rs6474412), which are associated with nicotine dependence in Western European populations. To analyze the association in a Czech population, we genotyped 1,191 males and 1,368 females (post-MONICA study). The WHO protocol was used to examine smoking status and the number of cigarettes smoked per day. There were 32.1% current and 27.6% past smokers among the males and 22.5% current and 13.8% past smokers among the females. We have not confirmed the original results: the SNPs rs16969968 (p = 0.07), rs578776 (p... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Cholinergic receptors; Polymorphism; Smoking. |
Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000500004 |
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Mazzi,Carmen Maria; Ferro,Jesus Aparecido; Ferro,Maria Inês Tiraboschi; Savino,Vicente José Maria; Coelho,Antonio Augusto Domingos; Macari,Marcos. |
The promoter region and the beginning of the coding region of the hsp70 stress gene were analysed in broiler chickens of a commercial breed (Hubbard-Pettersen), a breed selected for weight gain (PP1) and a non-selected breed (naked-neck Label Rouge). The naked neck gene (Naked neck, Na), which reduces feathering in birds and is thus related to heat resistance, was present in both PP1 and Label Rouge breeds. Genomic DNA was restricted with PstI and Southern blotting analysis of the samples revealed the absence of polymorphic sites for that enzyme in the promoter region and beginning of the coding region of the hsp70 gene of studied birds. PCR-SSCP analysis of these regions, however, indicated the presence of polymorphisms in the beginning of the coding... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Broiler chickens; Hsp70 gene; Naked neck (Na) gene; Polymorphism; SSCP. |
Ano: 2003 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572003000300010 |
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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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Lirón,J.P.; Ripoli,M.V.; De Luca,J.C.; Peral-García,P.; Giovambattista,G.. |
Data from five protein-coding loci related to dairy production were used to study the genetic diversity and population structure of Argentine and Bolivian Creole cattle breeds. Genomic DNA was extracted from blood samples of six Creole cattle breeds: Argentine (n = 230), Patagonian (n = 25); "Saavedreño" (n = 140), "Chaqueño Boliviano" (n = 30), "Yacumeño" (n = 27), and "Chusco" (n = 11). kappa-casein, beta-lactoglobulin, growth hormone and prolactin were measured by PCR-RFLP, while alphaS1-casein was typed by PCR-ASO. The results are discussed, focusing on: historical origin, recent differentiation and selection events, Zebu gene introgression, and population structure. This work shows that: (i) For the studied genes, the observed gene frequency profiles... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Creole cattle; Polymorphism; Genetic diversity; Molecular markers. |
Ano: 2002 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000400010 |
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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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Registros recuperados: 190 | |
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