RESUMO
The aim of this study was to investigate the DGAT1 gene polymorphism and its effects on lamb weight in kazakh and tajik sheep breeds. A total of 97 blood samples were collected from purebred (еdilbay Ñ Ðµdilbay) and crossbred lambs (еdilbay x gissar) breеd by the Baiserke Agro Scientific and Production Center in the Talgar District of the Almaty Region of Kazakhstan. Animals were genotyped for DGAT1-AluI polymorphism using the polymerase chain reaction-restriction length polymorphism (PCR-RFLP) method. The result of PCR-RFLP showed that purebred (еdilbay Ñ Ðµdilbay) sheep had three genotypes (CC, CT and TT) and crossbred sheep had two genotypes (CC and CT). The predominant genotype was CC with a frequency of 0.70 and 0.58 in purebred sheep and crossbred sheep breeds, respectively. The DGAT1 gene showed no significant association with live weight of lambs at different times in both breeds studied. However, the study showed that the CC genotype produced higher live weight at day 60 in purebred sheep (CC: 33,668 kg and CT: 32,444) and at day 120 (CC: 41,487 and CT: 40,929) in crossbred lambs. The present study was the first to investigate the polymorphism and relationships between genotypes and lamb live weights for DGAT1 gene in sheep breeds, purebred and crossbred. We conclude that further comprehensive investigations should be done for the exact evidence of the effects of DGAT1/Alui polymorphism on lamb live weights.
Assuntos
Peso Corporal , Diacilglicerol O-Aciltransferase , Genótipo , Reação em Cadeia da Polimerase , Polimorfismo Genético , Polimorfismo de Fragmento de Restrição , Animais , Diacilglicerol O-Aciltransferase/genética , Ovinos/genética , Reação em Cadeia da Polimerase/veterinária , Peso Corporal/genética , Frequência do Gene , Cazaquistão , MasculinoRESUMO
The work aims to analyze the associations of polymorphic variants of the PRL and BLG genes with resistance and susceptibility to mastitis in Holstein cows. The experimental study consisted of the selection of biomaterial samples from 250 heads of Holstein cows aged 3 years divided into two groups (healthy and with a confirmed diagnosis of mastitis). The determination of animal genotypes was carried out using polymerase chain reaction and restriction fragment length polymorphism. The study of the nature of the association of polymorphic variants of the PRL and BLG gene with resistance/increased risk of mastitis established a significant deviation from the theoretically expected distribution of bBLG-HaeIII genotypes in the group of animals suffering from mastitis (the value of χ2 was 0.24). The bBLG-HaeIIIBB genotype can act as a marker of an increased risk of developing mastitis in Holstein cows; its frequency in the group of sick animals exceeds the frequency in the control group by more than 2 times (44.0 compared to 17.0%, respectively). The bBLG-HaeIIIAB genotype is significantly associated with mastitis resistance in Holstein cows; its frequency is 2 times lower than in the control group (28.0 compared to 54.0%).
Assuntos
Predisposição Genética para Doença , Genótipo , Lactoglobulinas , Mastite Bovina , Reação em Cadeia da Polimerase , Polimorfismo Genético , Prolactina , Animais , Bovinos , Feminino , Mastite Bovina/genética , Prolactina/genética , Reação em Cadeia da Polimerase/veterinária , Lactoglobulinas/genética , Polimorfismo de Fragmento de Restrição , Frequência do GeneRESUMO
OBJECTIVE: Nonalcoholic fatty liver disease is a chronic liver disease and a growing global epidemic. The aim of this study was to investigate the association between a visfatin gene (NAMPT) variant and nonalcoholic fatty liver disease, owing to the connection between this disease and insulin resistance, obesity, inflammation, and oxidative stress, and the role of visfatin in these metabolic disorders. METHODS: In the present case-control study, we enrolled 312 genetically unrelated individuals, including 154 patients with biopsy-proven nonalcoholic fatty liver disease and 158 controls. The rs2058539 polymorphism of NAMPT gene was genotyped using the PCR-RFLP method. RESULTS: Genotype and allele distributions of NAMPT gene rs2058539 polymorphism conformed to the Hardy-Weinberg equilibrium both in the case and control groups (p>0.05). The distribution of NAMPT rs2058539 genotypes and alleles differed significantly between the cases with nonalcoholic fatty liver disease and controls. The "CC" genotype of the NAMPT rs2058539 compared with "AA" genotype was associated with a 2.5-fold increased risk of nonalcoholic fatty liver disease after adjustment for confounding factors [p=0.034; odds ratio (OR)=2.52, 95% confidence interval (CI)=1.36-4.37]. Moreover, the NAMPT rs2058539 "C" allele was significantly overrepresented in the nonalcoholic fatty liver disease patients than controls (p=0.022; OR=1.77, 95%CI=1.14-2.31). CONCLUSION: Our findings indicated for the first time that the NAMPT rs2058539 "CC" genotype is a marker of increased nonalcoholic fatty liver disease susceptibility; however, it needs to be supported by further investigations in other populations.
Assuntos
Citocinas , Predisposição Genética para Doença , Genótipo , Nicotinamida Fosforribosiltransferase , Hepatopatia Gordurosa não Alcoólica , Polimorfismo de Nucleotídeo Único , Humanos , Nicotinamida Fosforribosiltransferase/genética , Hepatopatia Gordurosa não Alcoólica/genética , Feminino , Masculino , Estudos de Casos e Controles , Pessoa de Meia-Idade , Fatores de Risco , Adulto , Predisposição Genética para Doença/genética , Citocinas/genética , Frequência do Gene/genética , Alelos , Polimorfismo de Fragmento de Restrição , Reação em Cadeia da PolimeraseRESUMO
OBJECTIVES: Nonalcoholic fatty liver disease is the term used for a range of conditions in which fat builds up in the liver and exceeds 5% of hepatocytes without inordinate alcohol intake or other causes of lipid accumulation. Regarding the fact that insulin resistance and obesity play key roles in the pathogenesis of nonalcoholic fatty liver disease, as well as the connection between resistin and these metabolic diseases, the association between nonalcoholic fatty liver disease and a resistin gene (RETN) polymorphism was examined. METHODS: In this genetic case-control association study, 150 biopsy-proven nonalcoholic fatty liver disease patients and 154 controls were enrolled and genotyped for the RETN rs1862513 (-420C>G) gene polymorphism using PCR-RFLP method. RESULTS: The -420C>G genotype frequency distributions in both groups were consistent with Hardy-Weinberg equilibrium (HWE; p>0.05). The carriers of the RETN -420C>G "CC" genotype compared with the "GG" genotype occurred less frequently in the cases with nonalcoholic fatty liver disease than in the controls, and the difference remained significant even after adjustment for confounding factors (p=0.030; OR=0.47, 95%CI=0.36-0.93). Interestingly, the RETN -420C>G "C" allele was also associated with a decreased risk for nonalcoholic fatty liver disease too (p=0.042; OR=0.72, 95%CI=0.53-0.95). CONCLUSION: We found for the first time an association between biopsy-proven nonalcoholic fatty liver disease and RETN -420C>G promoter polymorphism. The carriers of the RETN -420C>G "CC" genotype had a 53% decreased risk for nonalcoholic fatty liver disease. Our findings, however, need to be corroborated by further studies.
Assuntos
Predisposição Genética para Doença , Genótipo , Hepatopatia Gordurosa não Alcoólica , Regiões Promotoras Genéticas , Resistina , Humanos , Hepatopatia Gordurosa não Alcoólica/genética , Resistina/genética , Feminino , Masculino , Predisposição Genética para Doença/genética , Estudos de Casos e Controles , Pessoa de Meia-Idade , Regiões Promotoras Genéticas/genética , Adulto , Polimorfismo de Nucleotídeo Único/genética , Frequência do Gene/genética , Reação em Cadeia da Polimerase , Fatores de Risco , Polimorfismo de Fragmento de RestriçãoRESUMO
Sauroleishmania spp. comprises one of the four Leishmania subgenera, which has been historically considered a non-pathogenic protozoan of reptiles. However, some strains appear to be transiently infective to mammals, and recent findings have detected these parasites in dogs and humans in areas where leishmaniasis is endemic. Herein, the digestion pattern of PCR-RFLP of the 234 bp-hsp70 fragment was evaluated as a simpler and cheaper tool to distinguish the Sauroleishmania species from the other Leishmania subgenera. As a result, the digestion of the 234 bp-hsp70 fragments with HaeIII produced a banding pattern specific to the four Sauroleishmania strains assessed. This technique could contribute to the identification of Leishmania parasites isolated from sandflies, reptiles, or even mammals in fieldworks as an alternative to the use of laborious and expensive methodologies.
Assuntos
Proteínas de Choque Térmico HSP70 , Leishmania , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Animais , Proteínas de Choque Térmico HSP70/genética , Reação em Cadeia da Polimerase/métodos , Leishmania/genética , Leishmania/classificação , Leishmania/isolamento & purificação , Cães , Humanos , DNA de Protozoário/genética , Parasitologia/métodos , Leishmaniose/parasitologia , Leishmaniose/veterinária , Répteis/parasitologiaRESUMO
OBJECTIVE: The aim of this study was to evaluate the vitamin D receptor (VDR) BsmI variant in morbidly obese patients compared with healthy normal controls. METHODS: The study included 103 patients with morbid obesity and 120 healthy individuals serving as normal controls. The DNA samples obtained from blood were genotyped using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. The gender, age, smoking status, triglycerides, total cholesterol, insulin, mean body mass index, and frequency of allele and genotype of the BsmI variant in the VDR gene in morbidly obese patients were evaluated. RESULTS: The body mass index of the patients was 47.14 ± 7.19. The VDR B/B, B/b, and b/b genotype frequencies were 27.2% versus 28.3%; 54.4% versus 50%; and 18.4% versus 21.7% in the morbidly obese patients and the control group, respectively. There was no statistically significant difference between patients and control subjects in the genotype and allele distribution of the VDR BsmI variant (p>0.05). Both patients and control genotype frequencies are consistent with Hardy-Weinberg equilibrium. CONCLUSION: The BsmI variant in the VDR gene may not seem to predispose to morbid obesity in our study population. Further studies with a larger number of subjects are needed to make a more precise evaluation of this relationship.
Assuntos
Índice de Massa Corporal , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Obesidade Mórbida , Polimorfismo de Fragmento de Restrição , Receptores de Calcitriol , Humanos , Receptores de Calcitriol/genética , Obesidade Mórbida/genética , Masculino , Feminino , Adulto , Estudos de Casos e Controles , Pessoa de Meia-Idade , Frequência do Gene/genética , Polimorfismo de Fragmento de Restrição/genética , Predisposição Genética para Doença/genética , Reação em Cadeia da Polimerase , Fatores de Risco , AlelosRESUMO
AIM: Bacteria that promote plant growth, such as diazotrophs, are valuable tools for achieving a more sustainable production of important non-legume crops like rice. Different strategies have been used to discover new bacteria capable of promoting plant growth. This work evaluated the contribution of soil diazotrophs to the endophytic communities established in the roots of rice seedlings cultivated on seven representative soils from Uruguay. METHODS AND RESULTS: The soils were classified into two groups according to the C and clay content. qPCR, terminal restriction fragment length polymorphism (T-RFLP), and 454-pyrosequencing of the nifH gene were used for analyzing diazotrophs in soil and plantlets' roots grown from seeds of the same genotype for 25 days under controlled conditions. A similar nifH abundance was found among the seven soils, roots, or leaves. The distribution of diazotrophs was more uneven in roots than in soils, with dominance indices significantly higher than in soils (nifH T-RFLP). Dominant soils' diazotrophs were mainly affiliated to Alphaproteobacteria and Planctomycetota. Conversely, Alpha, Beta, Gammaproteobacteria, and Bacillota were predominant in different roots, though undetectable in soils. Almost no nifH sequences were shared between soils and roots. CONCLUSIONS: Root endophytic diazotrophs comprised a broader taxonomic range of microorganisms than diazotrophs found in soils from which the plantlets were grown and showed strong colonization patterns.
Assuntos
Endófitos , Oryza , Raízes de Plantas , Microbiologia do Solo , Solo , Oryza/microbiologia , Oryza/crescimento & desenvolvimento , Raízes de Plantas/microbiologia , Endófitos/genética , Endófitos/isolamento & purificação , Endófitos/classificação , Solo/química , Polimorfismo de Fragmento de Restrição , Bactérias/genética , Bactérias/isolamento & purificação , Bactérias/classificação , Fixação de Nitrogênio , Oxirredutases/genéticaRESUMO
INTRODUCTION: Studies in different populations have shown that single-nucleotide polymorphisms (SNPs) of tumor necrosis factor-alpha (TNFα) and TNF receptors 1 and 2 (TNFR1 and TNFR2) may be involved in the pathogenesis of lepromatous leprosy (LL). To further explore the results in a Mexican population, we compared the frequencies of the polymorphisms in - 308 G>A TNFA (rs1800629), - 383 A>C TNFRS1A (rs2234649), and + 196 T >G TNFSR1B (rs1061622) genes in LL patients (n = 133) and healthy subjects (n = 198). METHODOLOGY: The genotyping was performed with the polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP) technique. Statistical analysis was performed using the χ2 test, within the 95% confidence interval. Odds ratios (OR) were calculated and Hardy-Weinberg equilibrium was verified for all control subjects and patients. RESULTS: We found an association between the TNFSR1 -383 A>C genotype and the risk of lepromatous leprosy when leprosy patients were compared to controls (OR = 1.71, CI: 1.08-2.69, p = 0.02). Furthermore, it was also associated with the risk of LL in a dominant model (AC + CC vs AA, OR: 1.65, 95% CI: 1.05-2.057, p = 0.02). Similar genotype and allele frequencies for the SNPs TNFA - 308 G>A and TNFSR2 + 196 T>G were observed between leprosy patients and healthy subjects. CONCLUSIONS: The TNFSR1 -383 A>C could be a potential marker for the identification of high-risk populations. However, additional studies, using larger samples of different ethnic populations, are required.
Assuntos
Predisposição Genética para Doença , Hanseníase Virchowiana , Polimorfismo de Nucleotídeo Único , Receptores Tipo II do Fator de Necrose Tumoral , Receptores Tipo I de Fatores de Necrose Tumoral , Fator de Necrose Tumoral alfa , Humanos , México , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Hanseníase Virchowiana/genética , Receptores Tipo I de Fatores de Necrose Tumoral/genética , Fator de Necrose Tumoral alfa/genética , Receptores Tipo II do Fator de Necrose Tumoral/genética , Adulto Jovem , Idoso , Frequência do Gene , Polimorfismo de Fragmento de Restrição , Estudos de Casos e Controles , Genótipo , Adolescente , Reação em Cadeia da PolimeraseRESUMO
Ocular toxoplasmosis (OT) is characterised by intraocular inflammation due to Toxoplasma gondii infection. Studies have found that interleukin 17 (IL-17) plays a central role in the pathology of OT. However, nucleotide variability in IL17 and interleukin 17 receptor (IL17R) genes has not been characterised in OT. As cytokine gene polymorphisms may influence the expression of these molecules, the aim of this study was to verify whether IL17A (rs2275913), IL17F (rs763780), IL17RA (rs4819554) and IL17RC (rs708567) polymorphisms are associated with OT in a Brazilian population. This study enrolled 214 patients seropositive for T. gondii (110 with OT and 104 without) and 107 controls. Polymorphisms were identified by PCR-restriction fragment length polymorphism analysis, validated by DNA sequencing with chi-square and multivariate analyses being used to assess possible associations between polymorphisms and OT. Logistic regression under the dominant model revealed a protection factor against OT of the C mutant allele of the IL17F (rs763780) polymorphism. The T/C-C/C genotypes were significantly more common in patients without OT compared to those with OT (p value = 0.0066) and controls (p value = 0.014). Findings from this study suggest that the IL17F polymorphism may have an influence in the immunopathology of OT in Brazilian individuals.
Assuntos
Interleucina-17 , Toxoplasmose Ocular , Humanos , Toxoplasmose Ocular/genética , Toxoplasmose Ocular/imunologia , Toxoplasmose Ocular/parasitologia , Masculino , Feminino , Interleucina-17/genética , Adulto , Brasil , Pessoa de Meia-Idade , Adulto Jovem , Polimorfismo de Nucleotídeo Único , Predisposição Genética para Doença , Polimorfismo de Fragmento de Restrição , Fatores de Proteção , Adolescente , Genótipo , Polimorfismo Genético , Reação em Cadeia da Polimerase , IdosoRESUMO
Sarcocystis spp. are protozoan parasites that form cysts in the organs and musculature of various animal species. The species Sarcocystis miescheriana and Sarcocystis suihominis are pathogenic to pigs and wild boars (Sus scrofa), acting as intermediate hosts, while humans are the definitive host for S. suihominis. To date, there have been no reports of the identification of these coccidian species in Sus scrofa in Brazil. Therefore, in this study, we conducted the first molecular identification of Sarcocystis species using PCR-RFLP and sequencing. A total of 210 samples were analyzed, of this total, 67 tested positive for Sarcocystis spp., representing 31.9% of the total samples assessed. Out of the total positive samples, 55 (82.1%) were identified as S. miescheriana and 8 (11.9%) as S. suihominis, a zoonotic species. Additionally, other species related to bovines, such as S. cruzi and zoonotic S. hominis, were detected in 3.0% of the samples, serving as contaminants in the pork products. The presence of S. suihominis in swine and wild boar samples is concerning due to the zoonotic risk and potential environmental contamination, as humans act as definitive hosts, also for the presence of S. hominis as a bovine contaminant in pork sausages. Furthermore, we confirmed the efficacy of the PCR-RFLP technique as a reliable tool for the identification of Sarcocystis species, demonstrating its potential use in laboratories for molecular diagnosis and rapid identification of these parasites, aiming to protect public health and ensure food safety.