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2.
Clin Transl Oncol ; 24(1): 66-75, 2022 Jan.
Article in English | MEDLINE | ID: mdl-34312797

ABSTRACT

INTRODUCTION: Papillary thyroid cancer (PTC) is the predominant histological type of thyroid cancer, accounting for 80% of thyroid cancers. MiR-181a is a novel microRNA that is usually upregulated in multiple cancers. This study aims to explore the role and underlying mechanism of miR-181a in PTC. METHODS: CCK8 and Transwell assays were performed to evaluate cell viability and migration. The mRNA level of miR-181a and KLF15 was calculated by qRT-PCR. The protein level of E-Cadherin, N-Cadherin and GAPDH was evaluated by western blot. Dual luciferase assay was conducted to validate that miR-181a directly targeting the 3'-UTR of KLF15 mRNA in TPC-1 cells. RESULTS: We observed that miR-181a was overexpressed and KLF15 was low expressed in PTC tissues and cell lines. Upregulation of miR-181a or downregulation of KLF15 predicted poor outcomes in PTC patients. MiR-181a improved cell growth of PTC, migration and epithelial-mesenchymal transition (EMT) in TPC-1 cells. KLF15 was a target gene of miR-181a and its expression was mediated by miR-181a. KLF15 partially reversed the facilitating effect of miR-181a on cell proliferation and migration in TPC-1 cells. CONCLUSION: We discovered that miR-181a served as an oncogene downregulating KLF15, thereby inhibiting cell proliferation, migration and the EMT. These findings demonstrate that miR-181a plays a significant role in PTC progression and could be a therapeutic target for PTC.


Subject(s)
Cell Movement , Cell Proliferation , Kruppel-Like Transcription Factors/physiology , MicroRNAs/physiology , Thyroid Cancer, Papillary/pathology , Thyroid Neoplasms/pathology , Animals , Humans , Mice
3.
Genet Mol Res ; 16(1)2017 Mar 15.
Article in English | MEDLINE | ID: mdl-28301668

ABSTRACT

Previously, we determined that the CARD11 rs4722404 single nucleotide polymorphism (SNP) increases risk of early-onset psoriasis vulgaris (PsV). Moreover, the CARD14 gene polymorphism c.C2458T (p.Arg820Trp) is associated with clinical features of this disease. CARMA1/CARD11, CARMA2/CARD14, and CARMA3/CARD10 are conserved across many species and constitute a family of proteins, all of the members of which contain various functional domains characteristic of this group. The NF-κB signaling pathway, regulated by the CARMA family of scaffold proteins and its eponymous component, is a crucial mediator in the pathogenesis of psoriasis. However, little is known about the association between CARMA3/CARD10 and PsV. The aim of this study was to evaluate the relationship between the gene encoding this protein and risk of PsV in the southern Han Chinese population. Genomic DNA from 568 individuals of southern Chinese origin, including 355 patients with PsV and 213 control subjects, was analyzed. We selected seven tag SNPs in the CARMA3/CARD10 gene and genotyped them by the SNaPshot assay. Our results identified no significant association between these SNPs and PsV in the Chinese population examined. Future studies should focus on the potential function of the CARMA3/CARD10 gene in the pathogenesis of PsV.


Subject(s)
CARD Signaling Adaptor Proteins/genetics , Adult , Asian People/genetics , Case-Control Studies , China , Female , Gene Frequency , Genetic Association Studies , Genetic Predisposition to Disease , Humans , Male , Middle Aged , Polymorphism, Single Nucleotide , Psoriasis , Risk , Sequence Analysis, DNA
4.
Genet Mol Res ; 16(1)2017 Jan 23.
Article in English | MEDLINE | ID: mdl-28128425

ABSTRACT

We aimed to evaluate the specificity of 12 tumor markers related to colon carcinoma and identify the most sensitive index. Bhattacharyya distance was used to evaluate the index. Then, different index combinations were used to establish a support vector machine (SVM) diagnosis model of malignant colon carcinoma. The accuracy of the model was checked. High accuracy was assumed to indicate the high specificity of the index. The Bhattacharyya distances of carcinoembryonic antigen, neuron-specific enolase, alpha-feto protein, and CA724 were the largest, and those of CYFRA21-І, CA125, and UGT1A83 were the second largest. The specificity of the combination of the above seven indexes was higher than that of other combinations, and the accuracy of the established SVM identification model was high. Using Bhattacharyya distance detection and establishing an SVM model based on different serum marker combinations can increase diagnostic accuracy, providing a theoretical basis for application of mathematical models in cancer diagnosis.


Subject(s)
Biomarkers, Tumor , Colonic Neoplasms/blood , Colonic Neoplasms/diagnosis , Support Vector Machine , Humans , Models, Theoretical , Reproducibility of Results
5.
Genet Mol Res ; 15(3)2016 Aug 19.
Article in English | MEDLINE | ID: mdl-27706581

ABSTRACT

Recent genetic evidence suggests a robust association of the CARD14 single nucleotide polymorphism rs11652075 (c.C2458T/p.Arg820Trp) and other rare mutations in this gene with psoriasis. To assess whether combined data support the relationship between CARD14 rs11652075 and susceptibility to this disease, we conducted a meta-analysis. PubMed (MEDLINE), EMBASE, Web of Science, and the Cochrane Library were searched for relevant papers published in English. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using random-effect models. Heterogeneity between studies was assessed using the Cochran's Q and I2 statistics. A total of five published studies, including 32,807 psoriasis patients and 45,458 controls, met our inclusion criteria and were included in the meta-analysis. The pooled OR of the association between the minor allele of this polymorphism and psoriasis was 0.877 (95%CI = 0.834-0.922; P < 0.001). In a stratified analysis, pooled ORs relating to European and Asian ancestry were 0.883 (95%CI = 0.822-0.948) and 0.872 (95%CI = 0.812-0.936), respectively. Those calculated for studies with case sample sizes above and below 1000 were 0.912 (95%CI = 0.870- 0.956) and 0.824 (95%CI = 0.734-0.924), respectively. No publication bias was present, and the exclusion of any single dataset did not substantially alter the corresponding pooled ORs. Due to the limited data available regarding clinical classification of cases and genotypes, subgroup stratification by clinical type was not performed. Our results demonstrate a significant association between the CARD14 rs11652075 polymorphism and psoriasis.


Subject(s)
CARD Signaling Adaptor Proteins/genetics , Guanylate Cyclase/genetics , Membrane Proteins/genetics , Mutation, Missense , Psoriasis/genetics , Asian People/genetics , CARD Signaling Adaptor Proteins/metabolism , Case-Control Studies , Genetic Association Studies , Genetic Predisposition to Disease , Guanylate Cyclase/metabolism , Humans , Membrane Proteins/metabolism , Odds Ratio , Polymorphism, Single Nucleotide , Risk Factors , White People/genetics
6.
Genet Mol Res ; 15(2)2016 06 24.
Article in English | MEDLINE | ID: mdl-27420974

ABSTRACT

Achyranthis Bidentatae Radix has a long history in China as a commonly used herb that can be used to treat various diseases, including those related to the liver, muscles, bones, and kidneys. Recently, an increase in the number of adulterants has been reported, which affects the clinical safety of Achyranthis Bidentatae Radix. To identify adulterants of Achyranthis Bidentatae Radix, we collected samples from major regions and conducted an in-depth genetic comparison of the herb and its commonly used adulterants. We amplified and sequenced three genomic regions, internal transcribed spacer (ITS), psbA-trnH, and internal transcribed spacer 2 (ITS2), to confirm whether ITS2 is a suitable identifier for Achyranthis Bidentatae Radix. Results showed that the ITS2 sequence length of Achyranthis Bidentatae Radix was 199 bp, with no variation between samples. The inter-specific genetic distance of ITS2 between Achyranthis Bidentatae Radix and its adulterants was 0.390. Neighbor-joining trees showed that Achyranthis Bidentatae Radix and its adulterants are easily differentiated by monophyly. In conclusion, ITS2 regions accurately and effectively distinguished between Achyranthis Bidentatae Radix and its adulterants.


Subject(s)
Achyranthes/genetics , Phylogeny , Polymorphism, Genetic , Achyranthes/classification , DNA Barcoding, Taxonomic , DNA, Intergenic , Genome, Plant , Photosystem II Protein Complex/genetics
7.
Genet Mol Res ; 15(2)2016 Jul 14.
Article in English | MEDLINE | ID: mdl-27421022

ABSTRACT

Genome-wide association studies have identified a single nucleotide polymorphism (SNP), rs4722404, in the caspase recruitment domain family member 11 (CARD11) gene, which is associated with atopic dermatitis. Previous genetic studies have also reported genomic similarities between psoriasis and atopic dermatitis. However, little is known regarding the association between rs4722404 and psoriasis vulgaris (PsV). The aim of this study was to evaluate the relationship between rs4722404 and the risk and clinical features of PsV in a southern Chinese Han cohort. This hospital-based case-control study included 355 patients with PsV and 213 control subjects (N = 568); the samples were analyzed using a standard SNaPshot assay. We identified no association between the SNP and risk of PsV. However, a stratified analysis according to the age of onset, family history, and psoriasis area and severity index sub-phenotypes revealed a significant correlation between the C allele and CC+CT genotype of rs4722404 and an increased risk of early-onset PsV (≤40 years) compared to that of late-onset PsV (>40 years) (odds ratio, OR = 1.486; P = 0.026 for C allele and OR = 1.718, P = 0.023 for CC+CT genotype). The results of this study suggested that the SNP rs4722404 in CARD11 could increase the risk of early-onset PsV. Further studies must analyze the potential function of CARD11 in the pathogenesis of PsV.


Subject(s)
Asian People/genetics , CARD Signaling Adaptor Proteins/genetics , Guanylate Cyclase/genetics , Psoriasis/genetics , Adult , Alleles , CARD Signaling Adaptor Proteins/metabolism , Case-Control Studies , China , Cohort Studies , Dermatitis, Atopic/genetics , Ethnicity/genetics , Female , Gene Frequency , Genetic Predisposition to Disease , Guanylate Cyclase/metabolism , Humans , Male , Middle Aged , Polymorphism, Single Nucleotide
8.
Genet Mol Res ; 15(2)2016 Jun 10.
Article in English | MEDLINE | ID: mdl-27323163

ABSTRACT

We investigated dynamic changes in T-lymphocyte subsets after hyperthermic intraperitoneal chemotherapy (HIPEC) or radiotherapy using flow cytometry. A total of 1423 lung cancer patients admitted to our hospital between October 2012 and July 2015 were enrolled, and age-matched healthy individuals served as controls. Peripheral blood mononuclear cells (PBMCs) were purified using standard Ficoll density gradient centrifugation, based on which CD3+, CD4+, and CD8+ T-cells were isolated. A surface marker was identified by flow cytometry. Immunohistochemical analysis determined the distribution of the cells in the tumor mass or adjacent tissues. A total of 957 patients (male: 555; female: 402; median age: 49.3 years) with lung cancer who had received only HIPEC or radiotherapy were enrolled. The patients were followed-up until death. No statistical difference was noticed between the patients who had received chemotherapy compared with the baseline levels. A remarkable elevation was noticed in the CD3+ T-cells in the patients three months after radiotherapy (78.71 ± 9.36 vs 68.15 ± 9.65, P < 0.05). The level of CD8+ in the patients who had received chemotherapy or radiotherapy was remarkably elevated in the post-treatment period (P < 0.05). The CD3+ and CD8+ T-cells were mainly expressed in the cytoplasm rather than in the adjacent tissues. The expression of CD3+ and CD4+ was correlated to tumor infiltration and metastasis. Remarkable elevation was noticed in the CD3+ T-cells in the patients three months after radiotherapy. The expression of CD3+ and CD4+ was negatively correlated to tumor infiltration and metastasis in non-small-cell lung cancer patients.


Subject(s)
Leukocytes, Mononuclear/immunology , Lung Neoplasms/immunology , T-Lymphocyte Subsets/immunology , T-Lymphocytes/immunology , Adult , Aged , Female , Flow Cytometry , Humans , Hyperthermia, Induced , Leukocytes, Mononuclear/drug effects , Leukocytes, Mononuclear/radiation effects , Lung Neoplasms/drug therapy , Lung Neoplasms/pathology , Lung Neoplasms/radiotherapy , Lymphocyte Count , Male , Middle Aged , T-Lymphocyte Subsets/drug effects , T-Lymphocyte Subsets/radiation effects , T-Lymphocytes/drug effects , T-Lymphocytes/pathology , T-Lymphocytes/radiation effects
9.
Genet Mol Res ; 14(4): 15609-15, 2015 Dec 02.
Article in English | MEDLINE | ID: mdl-26634528

ABSTRACT

SET8, a member of the SET domain-containing methyl-transferase, has been implicated in various biological processes. In this study, SET8 was immunostained in 100 samples of gastric cancer tissues and semi-quantified using the HSCORE method to determine the predictive value of SET8 expression levels for gastric cancer outcome. The relationship between SET8 expression and the 5-year survival rate of gastric cancer patients was assessed. High expression of SET8 was associated with a shorter survival time in gastric cancer patients, and the level of SET8 expression was found to be an independent predictor of gastric cancer outcome (relative risk = 1.939; 95% confidence interval = 1.025-3.668; P = 0.042). Analysis of SET8 levels may help in the identification of patient subgroups that are at high risk for poor disease outcomes.


Subject(s)
Histone-Lysine N-Methyltransferase/metabolism , Stomach Neoplasms/metabolism , Stomach Neoplasms/mortality , Adult , Aged , Combined Modality Therapy , Female , Gene Expression , Histone-Lysine N-Methyltransferase/genetics , Humans , Immunohistochemistry , Kaplan-Meier Estimate , Male , Middle Aged , Neoplasm Staging , Prognosis , Stomach Neoplasms/pathology , Stomach Neoplasms/therapy , Tumor Burden
10.
Genet Mol Res ; 14(4): 12022-9, 2015 Oct 05.
Article in English | MEDLINE | ID: mdl-26505349

ABSTRACT

We investigated the effects of BCL2 transfection on the cell cycle and proliferation of GES-1 cells. A pcDNA3-BCL2 plasmid was used to transfect GES-1 cell line human gastric epithelial cells. Clones were obtained by G418 screening. BCL2-positive cells were identified by fluorescence immunohistochemistry. The pcDNA3-BCL2 vectors carrying the NeoR gene were transfected into GES-1 cells, while the empty plasmid was transfected into the same cells as controls. BCL2-positive clones were screened by neomycin 418 (G418). Flow cytometry was used to detect the cell cycle. Hematoxylin and eosin (H&E) staining revealed morphological changes, and the effects of BCL2 transfection on cell proliferation were analyzed by cell counting and 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide assay. The plasmid pcDNA3-BCL2 was identified by restriction enzyme digestion. Different degrees of BCL2 gene expression were detected in all seven clones. BCL2 was expressed mainly in the cytoplasm and the nuclear membrane. There were significantly more S-phase cells in the transfection group than in the controls. The morphology did not change after H&E staining. Cell growth was faster than in the controls after transfection for 6 days. At 24, 48, and 72 h after transfection, the A values were 4.15 ± 0.31, 5.98 ± 0.56, and 8.94 ± 0.79; those of the controls were 3.01 ± 0.20, 4.76 ± 0.52, and 7.69 ± 0.84; there was a significant difference between the two groups (P < 0.05). BCL2 transfection increased GES-1 cells in the S phase; the GES-1 cells were stable and BCL2 expression was high, which promoted cell proliferation.


Subject(s)
Cell Cycle , Cell Proliferation , Proto-Oncogene Proteins c-bcl-2/genetics , Cell Line, Tumor , Humans , Proto-Oncogene Proteins c-bcl-2/metabolism , Transfection
11.
Genet Mol Res ; 14(3): 8526-31, 2015 Jul 28.
Article in English | MEDLINE | ID: mdl-26345782

ABSTRACT

We conducted a case-control study in a Chinese population to examine the correlations between interleukin (IL)-17 gene polymorphisms and tuberculosis (TB) development. The study population included 336 TB subjects and 351 control subjects who were enrolled between June 2012 and June 2014. Genotyping analyses of IL-17A rs2275913 and rs3748067 and IL-17F rs763780 were analyzed using polymerase chain reaction-restriction fragment length of polymorphism. The genotype distributions of IL-17 rs2275913 were found to be in Hardy-Weinberg equilibrium in the controls, while the IL-17 rs3748067 and rs763780 were not. Based on unconditional logistic regression, individuals carrying the AA genotype and GA + AA genotype of rs2275913 were more likely to have a significantly increased risk of TB compared to subjects with the GG genotype. The ORs (95%CI) for the AA genotype and GA + AA genotype were 2.20 (1.35-3.60) and 1.52 (1.11-2.09), respectively. The CC genotype and TC + CC genotype of rs763780 were associated with increased risk of TB when compared with the TT genotype. The ORs (95%CI) for the CC genotype and TC + CC genotype were 1.99 (1.05-3.87) and 1.58 (1.07-2.33), respectively. In conclusion, rs763780 may play a critical role in the etiology of TB.


Subject(s)
Interleukin-17/genetics , Tuberculosis, Pulmonary/genetics , Adult , Asian People/genetics , Case-Control Studies , China , Female , Gene Frequency , Genetic Association Studies , Genetic Predisposition to Disease , Humans , Male , Middle Aged , Odds Ratio , Polymorphism, Restriction Fragment Length , Polymorphism, Single Nucleotide
12.
Genet Mol Res ; 14(3): 9872-81, 2015 Aug 19.
Article in English | MEDLINE | ID: mdl-26345921

ABSTRACT

A grapevine hybrid population was derived from a crossing of the early-maturing female parent cultivar '87-1' and the late-maturing male parent cultivar '9-22'. A total of 149 plants were selected from the hybrid population as the mapping population, and after sequence-related amplified polymorphism and simple-sequence repeat marker analysis were conducted we constructed molecular genetic maps of the parents. The molecular linkage map of '87-1' had 19 linkage groups that contained 188 markers, with an average interval of 5.7 cM and a total distance of 1074.5 cM; the '9-22' map had 19 linkage groups that contained 175 markers, with an average interval of 7.8 cM and a total distance of 1100.2 cM. The molecular linkage map of both parents had 19 linkage groups that contained 251 markers, with an average interval of 5.0 cM and a total distance of 1264.2 cM. We used the interval mapping method to conduct a quantitative trait locus (QTL) analysis of grape weight and soluble solid content of the mapping population. Six QTLs were related to grape weight, and the average contribution to the phenotypic variance was between 11.3 and 33.0%. Seven QTLs were related to soluble solid content, and the average contribution to the phenotypic variance was between 15.7 and 55.8%.


Subject(s)
Quantitative Trait Loci , Quantitative Trait, Heritable , Vitis/genetics , Chromosome Mapping , Genetic Linkage , Genetic Markers , Microsatellite Repeats , Phenotype
13.
Genet Mol Res ; 14(2): 4035-40, 2015 Apr 27.
Article in English | MEDLINE | ID: mdl-25966175

ABSTRACT

Pulmonary tuberculosis (PTB) remains one of the most important infectious diseases worldwide. Several studies have suggested that genetic factors may affect the susceptibility to PTB, but the specific genes involved have not been fully characterized. The gene for monocyte chemoattractant protein 1 (MCP-1) has been linked to an increased risk of tuberculosis in some Mexican and Korean populations. To explore the role of the MCP-1 gene in the susceptibility to PTB in a North Chinese population, we evaluated the association between MCP-1 -2518A/G gene polymorphisms and the risk for tuberculosis. Polymerase chain reaction amplification of genomic DNA followed by restriction fragment length polymorphism analysis was used. There was a significant increase in the frequency of the GG genotype of MCP-1 -2518 in 136 patients with PTB compared to that in 152 healthy controls (P = 0.008, X(2) = 7.133, odds ratio = 1.96). Similarly, the frequencies of the A/G alleles in the 2 groups differed; the frequency of allele G was higher in patients with PTB (P = 0.011, X(2) = 6.428, odds ratio = 1.536). In conclusion, the -2518A/G polymorphism in the MCP-1 gene was found to be associated with an increased susceptibility to PTB in a North Chinese population.


Subject(s)
Chemokine CCL2/genetics , Polymorphism, Genetic , Tuberculosis, Pulmonary/genetics , Adolescent , Adult , Alleles , Asian People/genetics , Case-Control Studies , China , Female , Genetic Predisposition to Disease , Genotype , Humans , Male , Middle Aged , Young Adult
14.
Genet Mol Res ; 14(1): 898-905, 2015 Feb 02.
Article in English | MEDLINE | ID: mdl-25730028

ABSTRACT

We investigated the clinical efficacy of adoptive cytokine-induced killer (CIK) cell and dendritic cell (DC) therapy plus intensity-modulated radiation therapy (IMRT) for treating elderly patients with esophageal carcinoma (EC). In total, 68 elderly patients with EC were randomized to receive IMRT plus DC-CIK immunotherapy (study group, N = 34) or IMRT only (control group, N = 34). Clinical efficacy, immune function, toxicity and side effects, and life quality were evaluated after treatment. The efficacy rate was significantly higher in the study group than in the control group. Remarkable increases were noted for quality of life and immune function in the study group relative to the control group. Regarding toxicity and side effects, compared with the control group, the study group displayed a higher fever rate, a lower incidence rate of bone marrow suppression, and a similar rate of digestive tract reactions. DC-CIK immunotherapy plus IMRT exhibited better short-term efficacy than IMRT alone in elderly patients with EC. The therapy could improve patients'quality of life and immune function, decrease bone marrow suppression, and lengthen survival time.


Subject(s)
Carcinoma/radiotherapy , Cell- and Tissue-Based Therapy , Cytokine-Induced Killer Cells/transplantation , Esophageal Neoplasms/radiotherapy , Aged , Carcinoma/immunology , Carcinoma/pathology , Cytokine-Induced Killer Cells/immunology , Dendritic Cells/immunology , Dendritic Cells/transplantation , Esophageal Neoplasms/immunology , Esophageal Neoplasms/pathology , Female , Humans , Immunotherapy/adverse effects , Male , Middle Aged , Radiotherapy, Intensity-Modulated/adverse effects
15.
Genet Mol Res ; 14(1): 1450-60, 2015 Feb 13.
Article in English | MEDLINE | ID: mdl-25730084

ABSTRACT

Nondestructive preoperative breast imaging techniques are widely used for breast cancer testing and diagnosis. This study aimed to evaluate the feasibility and efficacy of quantitative diagnosis via the thermal analysis of abnormal metabolism. Nine hundred forty-eight women who underwent breast biopsy from 2009 to 2013 were investigated. Thermal analysis was used to calculate the internal heat source (i.e., tumor) thermal power for each participant. The applicability and effectiveness of our approach were estimated using the chi-square test, kappa statistics (k), and odds ratios (OR). Breast density and tumor size were considered during this estimation. A thermal power q = 0.2 w was determined as the optimal separation threshold between breast cancer and benign disease. Moreover, good agreement (k = 0.837) with the gold-standard assessment (breast biopsy) was confirmed in 93.2% of the patients (N = 884/948), and the sensitivity and specificity were 94.2 and 92.9%, respectively. The results also found no significant differences in methodological accuracy between the fatty and dense breasts (OR = 1.194, P = 0.524). Furthermore, after dividing the cohort into three groups according to tumor size (T1: <2 cm; T2: 2 to 5 cm; T3: >5 cm), the tumor size had no effect on the proposed method (ORs = 1, P = 0.724). Internal heat source analysis can feasibly and efficiently distinguish between breast cancer and benign disease.


Subject(s)
Breast Neoplasms/diagnosis , Breast Neoplasms/pathology , Skin Temperature/physiology , Adult , Aged , Aged, 80 and over , Biopsy/methods , Body Mass Index , Breast/pathology , China , Female , Humans , Middle Aged , Models, Statistical , Odds Ratio , Prospective Studies , Retrospective Studies , Young Adult
16.
Genet Mol Res ; 13(2): 3438-45, 2014 Apr 30.
Article in English | MEDLINE | ID: mdl-24841789

ABSTRACT

High glycine-tyrosine proteins (HGTPs), also known as keratin-associated proteins (KAPs), play a key role in the major structures and mechanical properties of wool fiber. Sheep HGTPs consist of three multigene families: KAP6, KAP7, and KAP8 genes. Polymorphisms of these three genes have been proposed to have important effects on wool fiber traits. The aim of the present study was to identify polymorphisms of the KAP6, KAP7, and KAP8 genes in four sheep breeds, including Chinese Merino superfine wool sheep, Hu sheep, a Merino x Hu crossed breed, and Romney sheep. Polymerase chain reaction (PCR) product direct sequencing, PCR-single-strand conformation polymorphism, and cloned sequencing methods were used to find genetic variation and identify polymorphisms in these genes. The Mutation Surveyor v3.97 software was used to analyze the sequences. These methods revealed six different sequences of the KAP6 gene, two different sequences of the KAP7 gene, and five different sequences of the KAP8 gene. Accordingly, three (with frequencies>1%) single nucleotide polymorphisms (SNPs) of the KAP6 gene, one SNP of the KAP7 gene, and five SNPs of the KAP8 gene were detected. Interestingly, some of these sequences were present in only certain sheep breeds, thereby suggesting that these special allele sequences could be used as candidate genes of wool characteristics in further studies.


Subject(s)
Keratins/genetics , Sheep, Domestic/genetics , Alleles , Animals , Breeding , Polymorphism, Single Nucleotide , Wool/metabolism
17.
Genet Mol Res ; 13(2): 3100-7, 2014 Apr 17.
Article in English | MEDLINE | ID: mdl-24782167

ABSTRACT

We aimed to assess the role of polymorphisms of the XRCC1 Arg194Trp, XRCC1 Arg399Gln, ERCC5 His1104Asp, and ERCC5 His46His genes on clinical outcomes of advanced non-small cell lung cancer (NSCLC) patients receiving platinum-based chemotherapy regimens. A total of 378 NSCLC patients were asked to participate within 1 month after diagnosis between January 2005 and January 2006, and they were followed up until November 2011. Genomic DNA of the four genes was extracted using the Qiagen Blood Kit. Results showed that individuals with XRCC1 399A/A and ERCC5 46T/T genotypes were more likely to show positive responses to chemotherapy, with odds ratio (OR) = 2.27 and 95% confidence interval (CI) = 1.64-6.97, and OR = 1.90, CI = 1.10-3.28, respectively. The XRCC1 399A/A genotype was significantly associated with longer progression-free survival (PFS) and overall survival (OS) rates, and the hazard ratios (HRs) (95%CI) were 0.48 (0.25-0.88) and 0.51 (0.26-0.98), respectively. Similarly, NSCLC patients carrying the ERCC5 46T/T genotype were more likely to show increased PFS and OS, with HRs (95%CI) of 0.47 (0.22-0.82) and 0.52 (0.31-0.96), respectively. In conclusion, our study indicated that XRCC1 Arg399Gln and ERCC5 His46His might significantly influence the response to chemotherapy, and the two genetic polymorphisms are suggested to be routinely detected to determine NSCLC patients that are more likely to benefit from chemotherapy.


Subject(s)
Carcinoma, Non-Small-Cell Lung/drug therapy , Carcinoma, Non-Small-Cell Lung/genetics , DNA-Binding Proteins/genetics , Endonucleases/genetics , Nuclear Proteins/genetics , Transcription Factors/genetics , Adult , Aged , Carcinoma, Non-Small-Cell Lung/pathology , DNA Repair/genetics , Disease-Free Survival , Female , Humans , Male , Middle Aged , Neoplasm Staging , Platinum/administration & dosage , Polymorphism, Single Nucleotide , Treatment Outcome , X-ray Repair Cross Complementing Protein 1
18.
Genet Mol Res ; 13(1): 228-36, 2014 Jan 14.
Article in English | MEDLINE | ID: mdl-24446315

ABSTRACT

Individual differences in chemosensitivity and clinical outcome of non-small-cell lung carcinoma (NSCLC) patients can be influenced by host-inherited factors. We investigated the impact of XRCC1 Arg194Trp, XRCC1 Arg280His, XRCC1 Arg399Gln, XPD Arg156Arg, XPD Asp312Asn, XPD Asp711Asp, and XPD Lys751Gln gene polymorphisms on treatment efficacy in 375 NSCLC patients on platinum-based chemotherapy. We also examined progression-free survival and overall survival. The gene polymorphisms were analyzed by duplex PCR. The patients with XRCC1 399A/A had a significantly better response to chemotherapy. Individuals with XPD 711 Asp and XPD 312 Asn alleles responded poorly to chemotherapy when compared with the wide-type genotype. The adjusted hazard ratio (HR) in the Cox regression model was calculated. The XRCC1 399A/A polymorphism was associated with better progression free survival and overall survival of NSCLC patients (HR=0.61 and 0.55). On the other hand, the XPD 711 Asp allele was associated with poorer progression free survival and overall survival compared to the C/C genotype, with HRs of 1.89 and 1.90. The XPD 312 Asn allele was found to be associated with non-significantly reduced survival of NSCLC patients (HR = 1.73). In conclusion, we found the polymorphisms of XRCC1 and XPD to be related to the efficacy of platinum-based chemotherapy in NSCLC patients. This information should aid in therapeutic decisions for individualized therapy in NSCLC cases.


Subject(s)
Carboplatin/therapeutic use , Carcinoma, Non-Small-Cell Lung/genetics , DNA-Binding Proteins/genetics , Lung Neoplasms/genetics , Polymorphism, Single Nucleotide , Xeroderma Pigmentosum Group D Protein/genetics , Aged , Alleles , Antineoplastic Agents/therapeutic use , Carcinoma, Non-Small-Cell Lung/diagnosis , Carcinoma, Non-Small-Cell Lung/drug therapy , Female , Humans , Lung Neoplasms/diagnosis , Lung Neoplasms/drug therapy , Male , Middle Aged , Pharmacogenetics , Treatment Outcome , X-ray Repair Cross Complementing Protein 1
19.
Genet Mol Res ; 12(4): 5833-41, 2013 Nov 22.
Article in English | MEDLINE | ID: mdl-24301952

ABSTRACT

In order to evaluate the germplasm resources of Pampus argenteus silver pomfret, the genetic diversity and population structure of 132 silver pomfret samples collected from the three regions (the East China Sea, the Yellow Sea and the Bohai Sea) were examined using 13 polymorphic microsatellite loci. Results indicated a high level of genetic diversity. The total number of observed alleles was 68, the mean allele number was 5.46 per locus, and the mean number of effective alleles was 4.91. The polymorphism information content ranged from 0.58 to 0.88. For the 13 polymorphic microsatellite loci, the results of analysis of molecular variance indicated that 92.45% of the genetic variation was contained within populations. Unweighted pair group method with arithmetic mean cluster analysis revealed significant genealogical branches or clusters corresponding to sampling localities. We concluded that there was high genetic diversity in these silver pomfret populations, and that this diversity was related to the complex environment. These results would contribute to important knowledge of genetic diversity and population structure, which would be crucial for establishing appropriate fishery management stocks for this species.


Subject(s)
Microsatellite Repeats , Perciformes/genetics , Polymorphism, Genetic , Animals
20.
Genet Mol Res ; 12(2): 1841-8, 2013 Jun 11.
Article in English | MEDLINE | ID: mdl-23315865

ABSTRACT

Mice that lose Gαq from their immune system can spontaneously develop inflammatory arthritis. Gαq expression in the peripheral blood lymphocytes of rheumatoid arthritis (RA) patients is significantly decreased in comparison to that in healthy individuals, and reduced Gαq expression is closely correlated with RA disease activity. These indicate that Gαq plays critical roles in the pathogenesis of RA. To address whether single nucleotide polymorphism in the promoter region of the Gαq gene (GNAQ) influenced Gαq expression in RA patients and was a genetic risk factor for RA, we sequenced the promoter region of GNAQ in a Han Chinese population. A common dinucleotide polymorphism at position -695/-694, an exchange of 2 adjacent nucleotides (GC>TT), was revealed in 118 RA patients and 101 healthy adults. The proportions of genotypes observed for -695/-694 in the RA group were GC/GC (65.25%), GC/TT (33.05%), and TT/TT (1.70%), and those in the control group were GC/GC (62.38%), GC/TT (33.66%), and TT/TT (3.96%). No significant difference in the allele and genotype frequencies between RA patients and healthy controls for dinucleotide polymorphism was found in the Han Chinese population, neither in the whole data set nor in stratified subsets, i.e., rheumatoid factors, anti-cyclic citrullinated peptide antibody, and Gαq expression status (P > 0.05). We conclude that the GNAQ promoter polymorphism is not a genetic risk factor for RA in the Han Chinese population, and that decreased Gαq expression in peripheral blood lymphocytes of RA might potentially be due to other causes.


Subject(s)
Arthritis, Rheumatoid/genetics , Ethnicity/genetics , GTP-Binding Protein alpha Subunits/genetics , Genetic Association Studies , Genetic Predisposition to Disease , Polymorphism, Single Nucleotide/genetics , Promoter Regions, Genetic/genetics , Adult , Animals , Arthritis, Rheumatoid/immunology , Asian People , Case-Control Studies , China , Female , GTP-Binding Protein alpha Subunits/metabolism , GTP-Binding Protein alpha Subunits, Gq-G11 , Gene Expression Regulation , Gene Frequency/genetics , Genetics, Population , Humans , Male , Mice , Middle Aged , Peptides, Cyclic/immunology , RNA, Messenger/genetics , RNA, Messenger/metabolism
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