RESUMO
PURPOSE: This study aimed to investigate the relationship between miR-141-3p and B lymphocyte-2 gene (Bcl2) gene and its biological behavior on colon cancer cell line SW480. METHODS: qRT-PCR was used to detect the expression level of miR-141-3p in colon cancer tissues and adjacent tissues, as well as in colon cancer cell line and normal human colonic epithelial cell line FHC. MTT assay, wound assay, and Transwell demonstrated the effects of miR-141-3p on colon cancer proliferation, migration and invasion. Targetscan7.1 predictive software and dual luciferase reporter assays were used to detect the targeted regulation of miR-141-3p on the apoptosis-related gene Bcl2. MTT assay, wound assay, Transwell and flow cytometry were used to detect the effect of Bcl2 on miR-141-3p on colon cancer proliferation, migration, invasion and apoptosis. RESULTS: Compared with adjacent tissues, the expression of miR-141-3p in colon cancer tissues was significantly down-regulated. Colon cancer patients with low expression of miR-141-3p had poorer prognosis. Compared with normal colonic epithelial cells, miR-141-3p expression was significantly down-regulated in colon cancer cell lines, and overexpression of miR-141-3p significantly attenuated the proliferation, migration and invasion of colon cancer cells. Knockdown of miR-141-3p significantly promoted the proliferation, migration and invasion of colon cancer cells. miR-141-3p targets the negative regulation of Bcl2. Knockdown of Bcl2 significantly attenuated the promotion of miR-141-3p inhibitor on proliferation, migration and invasion of colon cancer cells and inhibition of apoptosis. Knockdown of Bcl2 significantly enhanced the inhibition effect of miR-141-3p inhibitor on proliferation, migration and invasion of colon cancer cells. CONCLUSIONS: In conclusion, miR-141-3p can inhibit the cancer by regulating Bcl2, and miR-141-3p has the potential to become a potential therapeutic target for colon cancer.
Assuntos
Biomarcadores Tumorais/metabolismo , Neoplasias do Colo/patologia , Regulação Neoplásica da Expressão Gênica , MicroRNAs/genética , Proteínas Proto-Oncogênicas c-bcl-2/antagonistas & inibidores , Apoptose , Biomarcadores Tumorais/genética , Movimento Celular , Proliferação de Células , Neoplasias do Colo/genética , Neoplasias do Colo/metabolismo , Humanos , Invasividade Neoplásica , Prognóstico , Proteínas Proto-Oncogênicas c-bcl-2/genética , Proteínas Proto-Oncogênicas c-bcl-2/metabolismo , Taxa de Sobrevida , Células Tumorais CultivadasRESUMO
OBJECTIVE: To investigate positioning error analysis of the Fraxion localization system in the intracranial stereotactic radiotherapy of tumors. METHODS: 64 patients were divided into two groups: a control group (36 patients with the standard thermoplastic mask) and a model group (28 patients with the Fraxion localization system). 3D images of the treated position were obtained by cone-beam computed tomography (CBCT). Positioning errors were obtained by, respectively, registering these two sets of CBCT images to planning CT images, using a 6°-freedom robotic patient positioning system (HexaPOD Evo RT System). The changes in positioning errors with the Fraxion localization system and with the standard thermoplastic mask were analyzed. RESULTS: CBCT scan results of the model group showed that the mean of linear error of three directions [superior-inferior (SI), lateral (LAT), and anterior-posterior (AP)] was 0.710 ± 0.676 mm, 0.817 ± 0.687 mm, and 0.710 ± 0.685 mm, respectively. The corresponding PTV was 1.23 mm, 1.26 mm, and 1.36 mm. The differences between the 3D images and the planned CT images were significant (p < 0.001). CONCLUSION: The Fraxion radiotherapy system can not only improve the positioning accuracy and reduce positioning errors but also narrow the PTV margin and reduce the radiated volume of normal tissue.
Assuntos
Neoplasias Encefálicas/radioterapia , Tomografia Computadorizada de Feixe Cônico , Glioma/radioterapia , Radiocirurgia/instrumentação , Erros de Configuração em Radioterapia/prevenção & controle , Adulto , Idoso , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Máscaras , Pessoa de Meia-Idade , Posicionamento do Paciente , Planejamento da Radioterapia Assistida por ComputadorRESUMO
Morphine, a highly potent analgesic, is one of the most effective drugs for the treatment of severe pain associated with cancer. It directly acts on the central nervous system to relieve pain, but also cause secondary complications, such as addiction, respiratory depression and constipation due to its activities on peripheral tissues. Besides pain relief, morphine is of great importance on cancer management with its effect on tumor development being the subject of debate for many years with some contradictory findings. Morphine has shown both tumor growth-promoting and growth-inhibiting effects in many published research studies. And various signaling pathways have been suggested to be involved in these effects of morphine. Based on a thorough literature review, we summarized the double-faced effects of morphine in tumor development, including tumor cell growth and apoptosis, metastasis, angiogenesis, immunomodulation and inflammation. And we attempted to optimize morphine administration in cancer patients to attenuate its tumor growth-promoting effects.
Assuntos
Analgésicos Opioides/uso terapêutico , Morfina/uso terapêutico , Neoplasias/tratamento farmacológico , Dor/prevenção & controle , Animais , Humanos , Neoplasias/complicações , Dor/etiologiaRESUMO
Balanced translocation is a common structural chromosomal rearrangement in humans. Carriers can be phenotypically normal but have an increased risk of pregnancy loss, fetal death, and the transmission of chromosomal abnormalities to their offspring. Existing prenatal screening technologies and diagnostic procedures fail to detect balanced translocation, so genetic counseling for carriers remains a challenge. Here, we report the characteristics of chromosomal reciprocal translocation in 3807 amniocentesis cases. Of the 16 detected cases of fetal reciprocal translocation, 8 cases (50%) showed positive biochemical marker screening; 3 cases (18.75%) were the parental carriers of a chromosomal abnormality; 2 (12.5%) were of advanced maternal age, 2 (12.5%) had a previous history of children with genetic disorders, and 1 case (6.25%) was associated with positive soft markers in obstetric ultrasound. Chromosomes 5 and 19 were the most commonly involved chromosomes in balanced translocations. Of the 13 cases with fetal balanced translocations, 8 (61.5%) were inherited from a paternal chromosome, 3 (23.1%) from a maternal chromosome, and 2 (15.4%) cases were de novo. The incidence of balanced translocation at amniocentesis was 0.42%. Male carriers of reciprocal chromosome translocation appear to have a higher chance of becoming a parent of a child born by normal childbirth than female carriers.
Assuntos
Transtornos Cromossômicos/diagnóstico , Adulto , Amniocentese , Aberrações Cromossômicas , Feminino , Aconselhamento Genético , Humanos , Gravidez , Translocação Genética , Adulto JovemRESUMO
The Wnt signaling pathway plays a key role in insurgence and progression of many different forms of cancer. Some crucial components of the Wnt pathway have been proposed to be novel targets for cancer therapy. To date, the Wnt signaling pathway has not been studied in cutaneous squamous cell carcinoma (CSCC). This study was designed to investigate the expression of Wnt1 and SFRP1 from the Wnt pathway in CSCC. Tissue samples were obtained from 35 patients with CSCC and 30 controls admitted to the Xinjiang Uygur Autonomous Region People's Hospital at Urumchi City, China. Gene and protein expressions of Wnt1 and SFRP1 were quantified by immunohistochemistry and western blotting. Wnt1 expression was significantly higher (P < 0.05) in CSCC samples than in normal skin cells of the control subjects; in contrast, SFRP1 expression was significantly lower in CSCC tissues than that in tissues of control subjects (P < 0.05). Moreover, Wnt1 expression (P < 0.05) was found to be correlated with histopathological differentiation in CSCC, and negatively correlated with SFRP1 expression in CSCC (rs = -0.473, P = 0.015). Therefore, we concluded that Wnt1 and SFRP1 play important roles in the development of CSCC and could be potent markers for diagnosis, prevention, and therapy of CSCC.
Assuntos
Biomarcadores Tumorais/genética , Carcinoma de Células Escamosas/genética , Peptídeos e Proteínas de Sinalização Intercelular/genética , Proteínas de Membrana/genética , Neoplasias Cutâneas/genética , Proteína Wnt1/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/metabolismo , Carcinoma de Células Escamosas/metabolismo , Carcinoma de Células Escamosas/patologia , Estudos de Casos e Controles , Humanos , Peptídeos e Proteínas de Sinalização Intercelular/metabolismo , Proteínas de Membrana/metabolismo , Pessoa de Meia-Idade , Neoplasias Cutâneas/metabolismo , Neoplasias Cutâneas/patologia , Proteína Wnt1/metabolismoRESUMO
Gout is the most common form of inflammatory arthritis affecting men, and current evidence suggests that genetic factors contribute to its progression. As a previous study identified that WD40 repeat protein 1 (WDR1) is associated with gout in populations of European descent, we sought to investigate its relationship with this disease in the Han Chinese population. We genotyped six WDR1 single nucleotide polymorphisms in 143 gout cases and 310 controls using Sequenom MassARRAY technology. The SPSS 16.0 software was used to perform statistical analyses. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by unconditional logistic regression, with adjustments for age and gender. In an analysis using an allelic model, we identified that the minor alleles of rs3756230 (OR = 0.64, 95%CI = 0.450-0.911, P = 0.013) and rs12498927 (OR = 1.377, 95%CI = 1.037-1.831, P = 0.027) were associated with gout risk. In addition, we found that the "A/A" genotype of rs12498927 was associated with increased risk of gout under codominant (OR = 2.22, 95%CI = 1.12- 4.40, P = 0.042) and recessive models (OR = 2.24, 95%CI = 1.20-4.17, P = 0.012). We also determined the "A/G" genotype of rs12498927 to be significantly associated with higher urea levels in gout patients (P = 0.017). Our data shed new light on the association between genetic variations in the WDR1 gene and gout susceptibility in the Han Chinese population.
Assuntos
Gota/genética , Proteínas dos Microfilamentos/genética , Polimorfismo de Nucleotídeo Único , Adulto , Estudos de Casos e Controles , China , Feminino , Gota/sangue , Humanos , Masculino , Pessoa de Meia-Idade , Ureia/sangueRESUMO
Recently, there has been an upward trend in the occurrence of hand-foot-mouth disease, which is correlated with Coxsackie A6 and A10 infections. Although two separate diagnostic reagents are available for these two viral strains, the protocol and diagnosis efficiency still need to be improved. More importantly, as co-infection with these viruses is common, the development of a single test kit that can diagnose both viruses would be most beneficial for clinical practice. In our study, specific primers targeting viral nucleic acids were designed and modified. Viral nucleic acids were extracted from fecal or throat swab samples by ultrasonic rupture and silicon membrane purification. The consistency, specificity, and sensitivity of the tests were further optimized by adjusting the polymerase chain reaction (PCR) conditions. The efficiency of viral nucleic acid extraction was significantly enhanced by the ultrasonic rupture and silicon membrane elution approach. Specific amplifications of both viral nucleic acids were achieved using modified primers. The optimal conditions for PCR were also determined (60°C for 30 min and 95°C for 2 min, followed by 40 cycles of denaturation for 30 s at 95°C, annealing for 30 s at 60°C, and elongation for 50 s at 72°C). Amplified products were confirmed as viral specific nucleotides by agarose gel electrophoresis and sequencing. The minimal nucleic acid concentration required for detection was 0.2 ng/L, which was adequate to yield satisfactory specificity and consistency. This novel diagnostic method has many advantages, including rapid protocols and accurate results, and can be promoted for large-scale clinical trials.
Assuntos
Enterovirus/patogenicidade , Doença de Mão, Pé e Boca/diagnóstico , Doença de Mão, Pé e Boca/virologia , Kit de Reagentes para Diagnóstico , Humanos , RNA ViralRESUMO
The aim of this study was to evaluate the relationship between fetal karyotype and parental chromosomal abnormalities, and to provide a basis for clinical diagnosis and therapy in Northeast China. A total of 144 spontaneously aborted fetuses were analyzed by FISH to test for chromosome number and to recall couples for peripheral blood karyotype analysis. The rate of abnormal chorionic villus chromosomes was 35.42%. Villus chromosome abnormality rate of the first spontaneous abortion and repeated abortions were 40.54 and 33.64%, respectively (P < 0.05). The rate of chromosome abnormality in women with advanced maternal age and women younger than 35 years old were 46.43 and 32.76%, respectively (P < 0.05). In a recall of 112 couples for peripheral blood karyotype analysis, just 3 cases of 7 patients with peripheral blood chromosome abnormality showed abnormal FISH results in their abortion villi. Fetal chromosome number abnormality is a major cause of early abortion, and parental chromosomal abnormality is not the main factor in abnormal fetal karyotype. A complete evaluation and special treatment should be provided to couples with a history of recurrent miscarriage.
Assuntos
Cariótipo Anormal , Aborto Espontâneo/genética , Linhagem , Adulto , Amostra da Vilosidade Coriônica , Feminino , Humanos , Hibridização in Situ Fluorescente , Masculino , GravidezRESUMO
We investigated the effect of progranulin (PGRN) expression on the proliferation and senescence of cervical cancer cells. PGRN small interfering RNA (siRNA) was introduced into the SiHa and HeLa cell lines of human cervical carcinoma using liposome-mediated transfection. The expression levels of PGRN in each cell line after transfection of PGRN siRNA were detected by reverse transcription-polymerase chain reaction (RT-PCR). Senescence in the cell lines was detected using the ß-galactosidase-staining test, and proliferation was detected by clone formation. The RT-PCR assay showed that the expression of PGRN in all of the cell lines transfected with PGRN siRNA markedly decreased. In the clone-forming test, compared with the control group, the colony-forming ability in all cell lines decreased significantly after transfection with PGRN siRNA. The ß-galactosidase-staining experiments showed that the phenomenon of cell aging in the PGRN interference group was more obvious than in the control group. After the cervical cancer cells had been transfected with PGRN siRNA, cell senescence was accelerated and clone-forming ability was markedly reduced. This suggests that PGRN can promote the proliferation of the cervical cancer cell line; proliferation of cervical cancer cells is achieved by inhibiting their senescence.
Assuntos
Peptídeos e Proteínas de Sinalização Intercelular/biossíntese , Neoplasias do Colo do Útero/patologia , Linhagem Celular Tumoral , Movimento Celular/fisiologia , Proliferação de Células/fisiologia , Senescência Celular/fisiologia , Feminino , Células HeLa , Humanos , Peptídeos e Proteínas de Sinalização Intercelular/genética , Progranulinas , RNA Mensageiro/genética , RNA Interferente Pequeno/genética , Neoplasias do Colo do Útero/genética , Neoplasias do Colo do Útero/metabolismoRESUMO
Current evidence suggests that heredity and metabolic syndrome contribute to gout progression. SLC2A9 and ZNF518B may play a role in gout progression in different populations, but no studies have focused on the Tibetan Chinese population. In this study, we determined whether variations in these 2 genes were correlated with gout-related indices in Chinese-Tibetan gout patients. We detected 6 single nucleotide polymorphisms in SLC2A9 and ZNF518B in 319 Chinese Tibetan gout patients. One-way analysis of variance was used to evaluate the polymorphisms' effects on gout based on mean serum levels of metabolism indicators. Polymorphisms in SLC2A9 and ZNF518B affected multiple risk factors related to gout development. Significant differences in serum triglyceride levels and high-density lipoprotein-cholesterol level were detected between different genotypic groups with SLC2A9 polymorphisms rs13129697 (P = 0.022), rs4447863 (P = 0.018), and rs1014290 (P = 0.045). Similarly in ZNF518B, rs3217 (P = 0.016) and rs10016022 (P = 0.046) were associated with high creatinine and glucose levels, respectively. This study is the first to investigate and identify positive correlations between SLC2A9 and ZNF518B gene polymorphisms and metabolic indices in Tibetan gout patients. We found significant evidence indicating that genetic polymorphisms affect gout-related factors in Chinese Tibetan populations.
Assuntos
Proteínas de Ligação a DNA/genética , Proteínas Facilitadoras de Transporte de Glucose/genética , Gota/genética , Gota/metabolismo , Metaboloma , Polimorfismo de Nucleotídeo Único , Adulto , Idoso , Alelos , Biomarcadores , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Genótipo , Gota/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Tibet/epidemiologia , Dedos de ZincoRESUMO
Three-dimensional ultrasound speckle tracking imaging was used to evaluate the effects of recombinant human brain natriuretic peptide (rhBNP) in acute anterior and extensive anterior myocardial infarction. Ninety patients with acute anterior or extensive myocardial infarction were randomly divided into 3 groups: Group A [emergency percutaneous coronary intervention (PCI)], Group B (emergency PCI + rhBNP early treatment), and Group C (emergency PCI + late rhBNP treatment). Within 6 h of admission and at 1 week and 3 and 6 months after PCI, patients underwent routine transthoracic echocardiography and real-time three-dimensional echocardiography. At 1 week, 1 month, 3 months, 6 months, and 12 months, ejection fraction values in groups B and C were significantly greater than those in group A (P < 0.05), and left ventricular end-diastolic volume and left ventricular end-systolic volume values in groups B and C were less than those in group A (P < 0.05). Within 6 h of admission in each group, long-axis, radial, circumferential, and area variables corresponding to anterior descending artery segments showed no significant difference (all P > 0.05). However, at 1 week, 1 month, 3 months, 6 months, and 12 months, long-axis, radial, circumferential and area variables in groups B and C were significantly less than those in group A (P < 0.05). Intervention with rhBNP can im-prove resilience of the local myocardium, left ventricular mechanical function, and cardiac remodeling. Within 6 h of admission or after PCI, rhBNP application showed no significant difference in heart function improvement or myocardial remodeling inhibition.
Assuntos
Infarto Miocárdico de Parede Anterior/tratamento farmacológico , Peptídeo Natriurético Encefálico/administração & dosagem , Proteínas Recombinantes/administração & dosagem , Função Ventricular/efeitos dos fármacos , Adulto , Idoso , Infarto Miocárdico de Parede Anterior/diagnóstico por imagem , Infarto Miocárdico de Parede Anterior/genética , Infarto Miocárdico de Parede Anterior/patologia , Infarto Miocárdico de Parede Anterior/cirurgia , Ecocardiografia Tridimensional , Feminino , Humanos , Imageamento Tridimensional , Masculino , Pessoa de Meia-Idade , Peptídeo Natriurético Encefálico/genética , Radiografia , Proteínas Recombinantes/genética , Função Ventricular/genéticaRESUMO
Recent data have indicated that inflammation may have an important correlation with obstructive sleep apnea (OSA). Studies have indicated a relationship between OSA and TNF-α gene polymorphisms. Zinc finger protein 36 (ZFP36) regulates TNF-α mRNAs. However, ZFP36 gene polymorphisms have not been investigated in OSA. Therefore, we conducted the present case-control study to assess whether variances in ZFP36 gene polymorphisms account for differences in TNF-α levels in patients with moderate-to-severe OSA. This case-control study aims to investigate the relationship between genetic variations in the ZFP36 gene and moderate-to-severe OSA. Three common single nucleotide polymorphisms of the ZFP36 gene (rs251864, rs3746083, and rs17879933) were evaluated in a group of patients with moderate-to-severe OSA (N = 408) and in a control group (N = 394) by using TaqMan polymerase chain reaction analysis. The moderate-to-severe OSA group and the control group exhibited significant differences in the distributions of rs251864 and rs17879933 genotypes and alleles (P < 0.05). TNF-α levels were significantly different not only among the three rs251864 genotypes but also between the II genotype and the DD + ID genotypes of rs17879933. However, no significant differences in sleep apnea parameters in the three ZFP36 gene polymorphisms were observed. Logistic regression analyses demonstrated that TNF-α and the three ZFP36 gene polymorphisms were not independently associated with OSA. ZFP36 might be involved in TNF-α regulation. However, ZFP36 gene variants were not independent risk factors for moderate-to-severe OSA.
Assuntos
Polimorfismo de Nucleotídeo Único , RNA Mensageiro/genética , Apneia Obstrutiva do Sono/genética , Tristetraprolina/genética , Fator de Necrose Tumoral alfa/genética , Adulto , Alelos , Estudos de Casos e Controles , Feminino , Regulação da Expressão Gênica , Frequência do Gene , Genótipo , Humanos , Inflamação , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Polissonografia , RNA Mensageiro/metabolismo , Fatores de Risco , Índice de Gravidade de Doença , Transdução de Sinais , Apneia Obstrutiva do Sono/metabolismo , Apneia Obstrutiva do Sono/patologia , Tristetraprolina/metabolismo , Fator de Necrose Tumoral alfa/metabolismoRESUMO
The aim of this study was to investigate the clinical effect of western medicine therapy assisted by Ginkgo biloba tablets (GBT) in patients with vascular cognitive impairment with no dementia (VCIND). Eighty patients with VCIND were randomly divided into two groups: the conventional treatment group (control group) and the combined treatment group. The conventional treatment group was provided with anti-platelet aggregation conventional treatment. In this group, 75 mg aspirin was given three times a day for 3 months, whereas the combined treatment group was given 19.2 mg GBT three times a day for 3 months along with conventional anti-platelet aggregation treatment. Montreal cognitive assessment (MoCA) and transcranial Doppler ultrasonography were used to observe changes in cognitive ability and cerebral blood flow in patients with VCIND before and after treatment in the two groups. After 3 months of treatment, the MoCA scores of execution, attention, abstraction, delayed memory, and orientation were significantly increased in the combined treatment group compared with those before treatment and those in the control group after treatment. In addition, the blood flow velocity of the anterior cerebral artery was significantly increased in the combined treatment group. GBT can improve the therapeutic efficacy, cognitive ability, and cerebral blood flow supply of patients with VCIND.
Assuntos
Aspirina/administração & dosagem , Transtornos Cognitivos/tratamento farmacológico , Medicamentos de Ervas Chinesas/administração & dosagem , Extratos Vegetais/administração & dosagem , Doenças Vasculares/tratamento farmacológico , Idoso , Cerebelo/irrigação sanguínea , Cerebelo/efeitos dos fármacos , Transtornos Cognitivos/patologia , Demência/fisiopatologia , Medicamentos de Ervas Chinesas/química , Feminino , Ginkgo biloba/química , Humanos , Masculino , Medicina Tradicional Chinesa , Pessoa de Meia-Idade , Extratos Vegetais/química , Ultrassonografia Doppler Transcraniana , Doenças Vasculares/patologiaRESUMO
The aim of this study was to investigate the mechanism underlying the drug resistance of Acinetobacter baumannii toward aminoglycosides. A total of 32 A. baumannii strains were identified by molecular identification and subsequently isolated. The isolates were then amplified by polymerase chain reaction to analyze the 9 aminoglycoside-modifying enzyme genes and 7 16S rRNA methylase genes. Five types of aminoglycoside-modifying enzyme genes and 1 type of 16S rRNA methylase gene were detected in the 32 drug-resistant A. baumannii strains. Positive genes included 7 detection modes, of which the all-6-gene-positive mode aac(2')-Ib+aac(3)-I+aac(6')-Ib+ant(3'')-I+aph(3')-I+armA exhibited the largest number of strains (12, 37.5%). The resistance of A. baumannii against aminoglycosides resulted from the presence of 5 types of aminoglycoside-modifying enzyme genes and the 16S rRNA methylase gene armA. This study is the first to isolate the aac(2')-Ib aminoglycoside-modifying enzyme gene from A. baumannii in a domestic clinical setting.
Assuntos
Acetiltransferases/genética , Acinetobacter baumannii/genética , Aminoglicosídeos/farmacologia , Proteínas de Bactérias/genética , Acetiltransferases/metabolismo , Acinetobacter baumannii/efeitos dos fármacos , Acinetobacter baumannii/enzimologia , Antibacterianos/farmacologia , Proteínas de Bactérias/metabolismo , DNA Bacteriano/genética , Farmacorresistência Bacteriana Múltipla , Testes Genéticos , Testes de Sensibilidade Microbiana , RNA Ribossômico 16S/genética , Análise de Sequência de DNARESUMO
The neonatal Fc receptor (FcRn) plays an important role in regulating IgG homeostasis in the body and passive protection to the offspring. Changes in FcRn expression levels caused by genetic polymorphisms of Fcgrt, which encodes FcRn, may lead to inter-individual differences in colostrum IgG levels in sheep. In this study, we sequenced the FcRn partial heavy chain from 179 sheep from Xinjiang Province, China, and detected the differences in colostrum IgG levels and Fcgrt genotypes to identify the correlation between the Fcgrt genotype and colostrum IgG levels in 4 sheep breeds. The DNA sequencing of a 680-bp fragment of the Fcgrt gene revealed various patterns depending on the single-strand conformation in the Suffolk breed. Sequencing analysis revealed a total of 3 patterns, AA, BB, AB, in this fragment, among which the absence of AB and BB genotype acted as a marker for breed identification and characterization, while the AA genotype was shared by Suffolk and 3 other breeds. The only allele found in all 4 breeds was allele A, indicating that natural selection may be favoring the AB and BB genotypes in general and B allele in particular, as the colostrum IgG concentration was relatively higher in the Suffolk breed compared to the other 3 breeds.
Assuntos
Colostro/imunologia , Antígenos de Histocompatibilidade Classe I/genética , Imunoglobulina G/metabolismo , Polimorfismo Genético , Receptores Fc/genética , Carneiro Doméstico/genética , Carneiro Doméstico/imunologia , Alelos , Animais , Sequência de Bases , Feminino , Dados de Sequência Molecular , Gravidez , Análise de Sequência de DNARESUMO
We examined whether the X-ray repair cross-complementing group 1 (XRCC1) Arg399Gln polymorphism is a risk factor for bladder cancer by conducting a meta-analysis. We searched the Pubmed and Embase databases for study retrieval. This meta-analysis examined 16 case-control studies, including 892 prostate cancer cases and 1020 healthy controls. Meta-analysis results based on these studies showed no significant association between the XRCC1 Arg399Gln polymorphism and bladder cancer risk in comparisons of the glutamine (Gln) allele vs arginine (Arg) allele, Arg/Arg vs (Gln/Gln + Gln/Arg), Gln/Gln vs (Gln/Arg + Arg/Arg), Gln/Gln vs Arg/Arg, and Gln/Arg vs Arg/Arg [odds ratio (OR) = 0.96, 95% confidence interval (CI) = 0.80-1.16, P = 0.70; OR = 1.13, 95%CI = 0.70-1.82, P = 0.62; OR = 0.92, 95%CI = 0.79-1.07, P = 0.29; OR = 0.90, 95%CI = 0.69-1.16, P = 0.42; OR = 0.89, 95%CI = 0.75-1.05, P = 0.17, respectively]. In subgroup analysis by ethnicity, no association was observed between the XRCC1 Arg399Gln polymorphism and bladder cancer risk in Caucasian, Mongoloid, or black populations. We identified no association between the XRCC1 Arg399Gln polymorphism and bladder cancer risk.
Assuntos
Proteínas de Ligação a DNA/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único/genética , Neoplasias da Bexiga Urinária/genética , Alelos , Frequência do Gene/genética , Heterogeneidade Genética , Humanos , Viés de Publicação , Fatores de Risco , Proteína 1 Complementadora Cruzada de Reparo de Raio-XRESUMO
Gene expression data acquired at different times after traumatic brain injury (TBI) were analyzed to identify differentially expressed genes (DEGs). Interaction network analysis and functional enrichment analysis were performed to extract valuable information, which may benefit diagnosis and treatment of TBI. Microarray data were downloaded from Gene Expression Omnibus and pre-treated with MATLAB. DEGs were screened out with the SAM method. Interaction networks of the DEGs were established, followed by module analysis and functional enrichment analysis to obtain insight into the molecular mechanisms. A total of 39 samples at six time points (30 min, 4, 8, 24 , 72 h, and 21 days) were analyzed and generated 377 DEGs. Eight modules were identified from the networks and network ontology analysis revealed that cell surface receptor-linked signaling pathway, response to wounding and signaling pathway were significantly overrepresented. Altered risk genes and modules in TBI were uncovered through comparing the gene expression data acquired at various time points. These genes or modules could be potential biomarkers for diagnosis and treatment of TBI.
Assuntos
Lesões Encefálicas/genética , Perfilação da Expressão Gênica , Redes Reguladoras de Genes , Análise de Sequência com Séries de Oligonucleotídeos , Animais , Regulação para Baixo/genética , Camundongos , Regulação para Cima/genéticaRESUMO
Growth hormone (GH) has diverse functions in animals, together with other hormones from the somatotropic axis. Here, chicken GH (cGH) was investigated in recessive white chickens and Qingyuan partridge chickens as a candidate gene affecting egg production traits. Chicken egg production traits were studied in association with 4 selected single nucleotide polymorphisms (T185G, G662A, T3094C, and C3199T). Genotyping was performed by the polymerase chain reaction-ligase detection reaction method. T185G was significantly associated with the egg production traits of body weight at first egg (BW), egg weight at first egg (EW), and the total egg production of 300-day old birds (EN 300). T3094C was also significantly associated with certain egg production traits; however, it affected the 2 breeds differently. Haplotypes of the 4 single nucleotide polymorphisms were also significantly associated with egg production traits of chicken age at first egg laying, BW, EW, and EN 300. H1H6 was the most advantageous diplotype for egg production. We putatively concluded that polymorphisms in the cGH gene and its haplotypes could be used as potential molecular markers for egg production traits to enhance the breeding programs of indigenous chickens.
Assuntos
Galinhas/genética , Hormônio do Crescimento/genética , Oviparidade/genética , Polimorfismo de Nucleotídeo Único , Característica Quantitativa Herdável , Animais , Peso Corporal , Cruzamento , Ovos , Feminino , Haplótipos , FenótipoRESUMO
We investigated genetic susceptibility to coronary artery disease (CAD) by studying the association of MKL1 gene polymorphisms with CAD in the Chinese Han population. We performed a case-control study with 476 unrelated CAD patients and 325 non-CAD controls. All SNPs were genotyped with a TaqMan SNP genotyping assay. The distribution of MKL1-184C>T gene polymorphism in each group was in Hardy-Weinberg equilibrium. The frequency of the MKL1 T allele in the CAD group was significantly higher than in the control group (38.6 vs 30.8%). After logistic regression models adjusted for CAD risk factors, the risk of CAD among CT genotypes was 1.765 times higher than among the CC genotypes [odds ration (OR) = 1.765, 95% confidence interval (CI) = 1.246-2.5], and for TT genotypes it was 1.806 times higher than for the CC genotypes (OR = 1.806, 95%CI = 1.203-2.71). In summary, genotypes with at least one T allele (CT or TT genotypes) had a significantly increased CAD risk than the CC genotypes, with a ratio of 1.78 to 1 (OR = 1.780, 95%CI = 1.311-2.418). There was a close association between -184 T allele and 3VD (OR = 1.614, 95%CI = 1.259-2.07, P < 0.05). We conclude that the -184C>T of MKL1 is an important susceptibility factor for CAD in the Han Chinese in Henan Province. Homozygosity for the T allele is not only associated with an increased risk for CAD, it is also correlated with severity of stenosis in the Chinese Han population.
Assuntos
Doença da Artéria Coronariana/genética , Proteínas de Ligação a DNA/genética , Estudos de Associação Genética , Proteínas de Fusão Oncogênica/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , China , Doença da Artéria Coronariana/patologia , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , TransativadoresRESUMO
The peroxisome proliferators-activated receptor-γ coactivator-1α (PGC-1α) is a candidate gene for meat quality traits because of its prominent role in muscle fiber type switching and determination. We investigated the effects of the PGC-1α gene on chicken skeletal muscle fiber type switching and on other meat quality traits. Single nucleotide polymorphisms were detected by PCR-SSCP and DNA sequencing, and then genotyping was performed by PCR-ligation detection reaction methods. Skeletal muscle fiber types, intramuscular fat content, shear forces, and water loss rate of the gastrocnemius lateralis muscle were measured in Qingyuan Partridge chickens and Recessive White chickens. Four SNPs, C171T in exon2, C384T in exon3, G646A in exon5, and A948G in exon8 were detected. Marker-trait association analysis indicated that G646A polymorphism was associated with skeletal myofiber type and that H1 (CCAA) was the most advantageous haplotype for skeletal myofiber type. We concluded that polymorphisms of the PGC-1α gene and their haplotypes are associated with chicken skeletal myofiber type traits.