• Asian Pacific Journal of Cancer Prevention
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• v.13 no.12
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• pp.6217-6220
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• 2012

Introduction: Up to present, EGF $61^*A$/G, TGF-${\beta}1$-$509^*T$/C and TNF-${\alpha}$-$308^*A$/G gene polymorphisms have been analysed in other cancer entities than hepatocellular carcinoma (HCC). We here investigated the frequency of these gene polymorphisms among HCC patients. Materials and Methods: A total of 73 HCC patients and 117 cancer-free healthy people were recruited at the Surgical Department of Zhongshan Hospital. Genomic DNA was isolated from peripheral blood and gene polymorphisms were analyzed by PCR-RFLP. Results: The distribution of EGF $61^*G$/G homozygotes among HCC patients was more frequent than that in the control group (24.7% vs 11.1%, OR=2.618, 95%CI=1.195-5.738). In parallel, the frequency of the "G" allele in the HCC patient group was also higher than that in the control group (45.9% vs 33.3%, OR= 1.696, 95%CI=1.110-2.592). No difference could be found for the TGF-${\beta}1$-509 and TNF-${\alpha}$-308 genotypes. Conclusion: EGF $61^*G$/G genotype and G allele are significantly increased among patients with HCC. TGF-${\beta}1$-$509^*T$/C and TNF-${\alpha}$-$308^*A$/G gene polymorphisms are not related to this cancer entity.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.17
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• pp.7357-7362
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• 2014

Interleukin-6 (IL-6), a central proinflammatory cytokine, maintains immune homeostasis and also plays important roles in cervical cancer. Therefore, we aimed to evaluate any associations of IL-6 gene polymorphisms at positions -174 and -572 with predisposition to cervical cancer in a Chinese population. The present hospital-based case-control study comprised 518 patients with cervical cancer and 518 healthy controls. Polymorphisms of the IL-6 gene were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Patients with cervical cancer had a significantly higher frequency of the IL-6 -174 CC genotype [odds ratio (OR) =1.52, 95% confidence interval (CI) = 1.06-2.19; p=0.02], IL-6 -572 CC genotype (OR =1.91, 95% CI = 1.16-3.13; p=0.01) and IL-6 -174 C allele (OR =1.21, 95% CI = 1.02-1.44; p=0.03) compared to healthy controls. When stratifying by the FIGO stage, patients with III-IV cervical cancer had a significantly higher frequency of IL-6 -174 CC genotype (OR =1.64, 95% CI =1.04-2.61; p=0.04). The CC genotypes of the IL-6 gene polymorphisms at positions -174 and -572 may confer a high risk of cervical cancer. Additional studies with detailed human papillomavirus (HPV) infection data are warranted to validate our findings.

• The Journal of Korean Institute of Information Technology
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• v.16 no.11
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• pp.1-9
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• 2018

Drug repositioning is to discover new uses of drugs. Text mining derives knowledge from unstructured text. We propose a method to predict new drug-disease relationships by taking into account the rate of frequency of genes simultaneously measured in disease-gene and gene-drug. Co-occurrence of drug-gene and gene-disease in the biological literature is counted and calculate the rate of the gene for each drug and disease. Weights of drug-disease relationships are calculated using the average of the rates of genes that are measured and used to measure the accuracy for each disease. In measuring drug-disease relationships, a more accurate identification of relationships was shown by measuring the frequency on a sentence and considering multiple relationships than existing method.

• Asian-Australasian Journal of Animal Sciences
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• v.16 no.11
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• pp.1560-1564
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• 2003

The study was carried out in Sahiwal, Holstein Friesian, Jersey and crossbred cattle to find out the effect of genotype of beta-lactoglobulin gene on milk production traits. The polymorphism at beta-lactoglobulin gene was identified by conducting PCRRFLP studies. A 398 bp fragment of the gene was amplified and digested with Hae III restriction enzyme. The two alleles A and B and three genotypes AA, AB and BB were identified in all cattle breeds. The frequency of B allele was comparatively higher than that of A allele. The AA genotype produced significantly higher milk yield in Sahiwal cattle whereas BB genotype yielded higher milk in Holstein friesian cattle. In other cattle breeds the genotypic effect was non-significant. In conclusion it may be stated that the genotype with significantly higher milk yield may be favoured in the farm along with other conventional selection criteria to enhance the milk production of animals.

• Journal of Embryo Transfer
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• v.9 no.2
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• pp.197-205
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• 1994

This experiment was carried out to clarify the pedigree identification from blood typing of 301 Hoisteins in National Animal Breeding Institute(N.A.B.I.). Twenty kinds of standard reagent standardized by Insternational Society for Animal Blood Group Research provied from KNC improvement center, N, L, C, F. were used as the reference reagents in this study. The highest frequency of antigenic facfors was obtained from X$_2$in blood typing of 301 Holsteins. The frequency of X$_2$ was 0.714.In A blood system, four kinds of phenogroups were observed. The gene frequencies of Al and Z' phenogroups were equally 0.027.This frequency was greatly lower than those of breeds of Southern European and Zebu cattle. In B blood Systern, nineteen kinds of blood type were appeared. The appearance frequency of Gx blood type was 0.259, whish was higher than the others. In C blood system, thirty kinds of blood type were observed. The appearance frequency of X$_2$ blood type was the highest(0.189). In F blood system, three kinds of alleles were detected. The gene frequency of F allele was higher than that of V(0.105). However, the frequency of F allele(0.327) was greatly lower than that of "- /- " allele. In S blood system, twelve kinds of blood type were appeared and showed sirnilar appearance frequencies except " - / - " allele. From the results of the pedigree identification from 8 sires and 28 progenies of them, the accuracy of pedigree identification was 92.9%.ification was 92.9%.

• Journal of Life Science
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• v.23 no.2
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• pp.190-196
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• 2013

The sea squirt, Halocynthia roretzi, has experienced mass mortality due to softness syndrome. The identification of disease-induced genes can provide insights into the development of this syndrome. To identify the genes, we performed differentially expressed gene (DEG) analysis. The expression of the phosphoglycerate kinase (HrPGK) gene was significantly decreased in diseased sea squirts compared to normal ones. We confirmed the result of the DEG analysis through RT-PCR and real-time PCR. In addition, we detected single nucleotide polymorphisms at position -106 (A/T) and -254 (G/T) in the HrPGK gene promoter by genotyping analysis. At the -106 site of the HrPGK gene, the frequency of the AA allele in disease-resistant sea squirts was about two-fold higher than that of sensitive ones, and the frequency of the TT allele in the disease-resistant sea squirts was about six-fold lower. At the -254 site of the HrPGK gene, the frequency of the GT and the GG allele was approximately two-fold higher and two-fold lower, respectively, in the disease-resistant sea squirts compared to the disease-sensitive ones. Analysis of the relationship between the genotypic variation at the -106/-254 promoter and the expression of HrPGK mRNA showed that HrPGK mRNA expression was higher in the -106/-254 AA/GT genotype samples than in the -106/254 TT/GG genotype ones. These results show that sea squirts harboring the AA/GT genotype may have more resistance to mortality than the sea squirts with other genotypes.

• Asian-Australasian Journal of Animal Sciences
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• v.16 no.4
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• pp.494-497
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• 2003

The study was carried out in Sahiwal, Holstein Friesian, Jersey and crossbred cattle and Murrah, Bhadwari, Jaffarabadi, Nagpuri and Surti buffaloes maintained at different organized herds to work out the polymorphism at growth hormone locus and study its effect on birth weight. A 223 bp fragment of the gene was amplified and digested with Alu I restriction enzyme. Two alleles, L and V with three genotypes LL, LV and VV were observed in Jersey, Holstein and cross bred cattle. Sahiwal cattle and buffalo were monomorphic for this locus producing only one genotype LL and one allele L. The frequency of L allele was comparatively higher in Holstein and crossbred cattle while in Jersey breed, the frequency of this allele was intermediate. The effect of genotype on birth weight was significant and LV genotype had higher birth weight than other genotypes. Hence, LV genotype in Holstein Friesian favored higher birth weight.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.8
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• pp.3505-3508
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• 2015

Background: Ras genes are thought to play an important role in human cancer since they have been found to be activated frequently in several types of tumors including breast cancer, where the overall incidence of K-RAS oncogene activation is 0-10%. Evaluation of K-RAS gene not only for mutational frequency but also for mutation types in this downstream signaling gene pathway is necessary to determine the mechanisms of action. The present study was conducted to test the hypothesis that K-RAS activation is involved in breast cancer risk of south Indian population. Materials and Methods: A total of 70 paired pathologically confirmed tumor and non-tumor tissues from the same breast cancer patients were analysed for most common K-RAS mutations of codon 12,13 and 61 by polymerase chain reaction followed by restriction digestion and direct nucleotide sequencing method. Results: We found that a high rate of homozygous and heterozygous mutations of codon 12, but not codon 13 and 61, may influence the invasive ductal carcinoma of breast risk in this study. Conclusions: Our study indicated that only codon 12 may be involved in initiating breast carcinogenesis in India.

• Journal of Animal Science and Technology
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• v.56 no.7
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• pp.25.1-25.6
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• 2014

This study was carried out to investigate the association of POU1F1 (POU domain, class 1, transcription factor 1, Pit1, renamed as POU1F1) gene with backfat thickness (mm), carcass weight (kg), pH, and color values ($L^*$, $a^*$, $b^*$) in crossbred pigs (Landrace ${\times}$ Yorkshire ${\times}$ Duroc). Frequency of the AA genotype indel was at the highest level (66.67%). Frequency of A allele (0.81) was higher than that of b allele (0.19). This population followed Hardy-Weinberg equilibrium. Carcass weights and $a^*$ values of the three genotypes were all significantly different (p < 0.05), respectively. However, backfat thickness, $L^*$, $b^*$, visual color, and pH of the three genotypes were not significantly different (p > 0.05). Visual color was negatively correlated with $L^*$ (r = -0.521) and $b^*$ (r = -0.390) values, $L^*$ value was correlated with $b^*$ (r = 0.419) value, and $a^*$ value was positively correlated with $b^*$ (r = 0.612) value. These results indicate that the POU1F1 gene affected carcass weight and meat redness.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.19 no.1
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• pp.19-27
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• 2008

Objectives : The aim of this study was to examine the association of attention-deficit hyperactivity disorder (ADHD) in Korean populations with functional polymorphisms of six genes dopamine receptors (Ser311/Cys311 polymorphism, Taq1 A polymorphism, and Taq1 B polymorphism in DRD2, BalI polymorphism in DRD3, and promoter -521 C/T polymorphism and exon III 48 bp repeat polymorphism in DRD4) and one gene in dopamine transporter (DAT1). Methods : Participants were 58 children with ADHD and 110 control children. The genotypes were determined by PCR. Results : There was a statistically significant difference in genotype frequency of -521 C/T polymorphism within the promoter region of the DRD4 between two groups. Furthermore, in the male group, both genotype and allele frequencies showed statistically significant differences. Conclusion : Findings of the study indicate that -521 C/T polymorphism in promoter region of DRD4 appears to be a possible candidate gene for ADHD in Korean population.