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Kappa-casein gene study with molecular markers in female buffaloes (Bubalus bubalis) Genet. Mol. Biol.
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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Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families Genet. Mol. Biol.
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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Biochemical comparison of two Hypostomus populations (Siluriformes, Loricariidae) from the Atlântico Stream of the upper Paraná River basin, Brazil Genet. Mol. Biol.
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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Polymorphisms of the DNA repair genes XRCC1 and XRCC3 in a Brazilian population Genet. Mol. Biol.
Duarte,Márcia Cristina; Colombo,Jucimara; Rossit,Andréa Regina Baptista; Silva,Ana Elizabete.
In several DNA repair genes, polymorphisms may result in reduced repair capacity, which has been implicated as a risk factor for various types of cancer. The frequency of the polymorphic alleles varies among populations, suggesting an ethnic distribution of genotypes. We genotyped 300 healthy Southeastern Brazilian individuals (262 of European ancestry and 38 of African ancestry) for polymorphisms of codons 194 and 399 of the XRCC1 base excision repair pathway gene and of codon 241 of the XRCC3 homologous recombination repair pathway gene. The allele frequencies were 0.07 for the Arg194Trp and 0.33 for the Arg399Gln codons of the XRCC1 gene and 0.35 for the Thr241Met codon of the XRCC3 gene. The genotypic frequencies were within Hardy-Weinberg equilibrium....
Tipo: Info:eu-repo/semantics/other Palavras-chave: DNA repair; XRCC1; XRCC3; Polymorphism; Ethnic variability.
Ano: 2005 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000300011
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DNA polymorphism of leptin gene in Bos indicus and Bos taurus cattle Genet. Mol. Biol.
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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A meta-analysis of ABCG2 gene polymorphism and non-small cell lung cancer outcomes Genet. Mol. Biol.
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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Polymorphism of alpha-1-antitrypsin in hematological malignancies Genet. Mol. Biol.
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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Microsatellite polymorphism in wheat from Brazilian cultivars; inter- and intra-varietal studies Genet. Mol. Biol.
Lima,Vitor Lopes de Abreu; Seki,Homiko Abreu; Rumjanek,Franklin David.
Eleven samples of wheat (Triticum aestivum) from different Brazilian cultivars and six American varieties were compared for polymorphism, using primers for nine different STR loci. STR analysis of DNA from single grains of the Brazilian varieties showed that for most loci there was very little intra-cultivar polymorphism. The polymorphic variation observed for Brazilian cultivars was similar to that seen in the American varieties. For the Brazilian cultivars PCR analysis could be performed on only one half of a grain. The American samples required more seeds for analysis. The nucleotide sequences of five amplified microsatellites selected at random from the Brazilian samples were also determined and compared to those of the Chinese Spring variety. Although...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Wheat; Brazilian; Cultivars; DNA; STR; Polymorphism.
Ano: 2003 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572003000300021
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Lack of an association between SNPs within the cholinergic receptor genes and smoking behavior in a Czech post-MONICA study Genet. Mol. Biol.
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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Contribution of DNA repair xeroderma pigmentosum group D genotypes to pancreatic cancer risk in the Chinese Han population Genet. Mol. Biol.
Yan,Dong; Liang,Xiao-Hui; Ding,Wei; Xu,Xin-Jian; Wang,Xi-Yan.
Abstract This study aimed to determine the association between the polymorphisms and haplotypes in the xeroderma pigmentosum group D (XPD) gene and the risk of pancreatic cancer in the Chinese Han population. SNaPshot was used for genotyping six SNP sites of the XPD gene. Comparisons of the correlations between different genotypes in combination with smoking and the susceptibility to pancreatic cancer were performed. Individual pancreatic cancer risk in patients who carry mutant C alleles (AC, CC, and AC+CC) at rs13181 increased (p < 0.05). Taking non-smoking individuals who carry the AA genotype as a reference, and non-smoking individuals who carry mutant allele C (AC+CC), the risk of pancreatic cancer increased by 3.343 times in individuals who smoked...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Pancreatic neoplasm; Human xeroderma pigmentosum group D; Polymorphism; Smoking.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100018
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Analysis of the CCR5 gene coding region diversity in five South American populations reveals two new non-synonymous alleles in Amerindians and high CCR5*D32 frequency in Euro-Brazilians Genet. Mol. Biol.
Boldt,Angelica B.W.; Culpi,Lodércio; Tsuneto,Luiza T.; Souza,Ilíada R.; Kun,Jürgen F.J.; Petzl-Erler,Maria Luiza.
The CC chemokine receptor 5 (CCR5) molecule is an important co-receptor for HIV. The effect of the CCR5*D32 allele in susceptibility to HIV infection and AIDS disease is well known. Other alleles than CCR5*D32 have not been analysed before, neither in Amerindians nor in the majority of the populations all over the world. We investigated the distribution of the CCR5 coding region alleles in South Brazil and noticed a high CCR5*D32 frequency in the Euro-Brazilian population of the Paraná State (9.3%), which is the highest thus far reported for Latin America. The D32 frequency is even higher among the Euro-Brazilian Mennonites (14.2%). This allele is uncommon in Afro-Brazilians (2.0%), rare in the Guarani Amerindians (0.4%) and absent in the Kaingang...
Tipo: Info:eu-repo/semantics/article Palavras-chave: CCR5; Brazilian; Amerindian; HIV; Polymorphism.
Ano: 2009 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000100002
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Polymorphism analysis of the hsp70 stress gene in Broiler chickens (Gallus gallus) of different breeds Genet. Mol. Biol.
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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Valongo, genetic studies on an isolated Afro-Brazilian community Genet. Mol. Biol.
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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Genetic variability of 10 microsatellite markers in the characterization of Brazilian Nellore cattle (Bos indicus) Genet. Mol. Biol.
Cervini,Marcelo; Henrique-Silva,Flávio; Mortari,Norma; Matheucci Jr,Euclides.
We assessed the polymorphism of 10 microsatellites in Brazilian Nellore cattle (Bos indicus) using a commercial multiplex system. Allele frequencies, polymorphism information content, heterozygosity and exclusion probability were calculated. Allele frequencies revealed that in the sample analyzed the markers were not equally polymorphic. The exclusion probabilities and the polymorphism information content of some loci in Nellore cattle were lower than in Bos taurus breeds. When all the microsatellites were considered the combined exclusion probability was 0.9989. This multiplex analysis can contribute toward pedigree information, adequate genetic improvements and breeding programs.
Tipo: Info:eu-repo/semantics/article Palavras-chave: Alleles; Frequencies; Microsatellite; Nellore; Polymorphism; Zebu.
Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000300015
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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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Analysis of genetic diversity and population structure in Argentine and Bolivian Creole cattle using five loci related to milk production Genet. Mol. Biol.
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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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 D-loop sequence variation among 5 maternal lines of the Zemaitukai horse breed Genet. Mol. Biol.
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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Characterization of 13 microsatellite loci developed from Meconopsis horridula Genet. Mol. Biol.
Zhao,Yu; Zhang,Shi-Bao; Yang,Jing; Zhang,Lu.
Meconopsis horridula is one of the eight most famous flowers in Chinese province of Yunnan. In this study, a modified biotin-streptavidin capture method was used to detect 13 microsatellite markers in the genome of M. horridula. The polymorphism of each locus was assessed in 24 samples collected from four populations. The number of alleles per locus ranged from 2 to 7 (mean: 3.2). The observed and expected heterozygosities ranged from 0.0833 to 0.9167 and 0.0816 to 0.8050, respectively. Additionally, nine of the 13 microsatellite markers were successfully amplified in three other congeneric species. These polymorphic SSR markers could be useful for studying the population genetics of M. horridula and for assessing genetic variation in this and congenerc...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Genetic structure; Heterozygosity; Meconopsis horridula; Microsatellite markers; Polymorphism.
Ano: 2010 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000300026
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Acid phosphatase polymorphism within and among populations of Cauliflower (Brassica oleracea var botrytis) Genet. Mol. Biol.
Marino,Celso Luis; Gimenes,Marcos Aparecido; Silva,Norberto da; Lopes,Catalina Romero.
Eighty-one lines of cauliflower (Brassica oleracea var. botrytis) from 12 populations used to produce commercial hybrids in Brazil were screened for polymorphism in the acid phosphatase system, in order to evaluate the usefulness of this marker for the determination of the parental contamination level in hybrid seeds. Little polymorphism was detected in the examined lines, but the system appeared to be very useful for hybrid identification, since the only condition required was polymorphism between the two parental lines. If the analyzed lines were used for hybrid production, 8.4% and 12.3% of the possible crosses would result in hybrids which can be positively identified using the APS-1 and B1 loci, respectively. If only one plant of each homozygous type...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Isoenzyme; Polymorphism; Cauliflower.
Ano: 2002 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000100015
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