• Asian Pacific Journal of Cancer Prevention
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• v.16 no.7
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• pp.3073-3077
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• 2015

Background: TP53 mutations are the most common genetic alterations in human cancers. There are also several polymorphisms in both exons and introns of TP53 that may influence its anti-tumor functions and increase the risk of cancer development. Associations of the TP53 intron 6 G13964C polymorphism with increased risk of development of several cancers have been investigated in numerous studies, but the results were controversial and conflicting. In this study, we aimed to investigate the probable association of this polymorphism with risk of both thyroid and breast cancers among the Iranian-Azeri population. Materials and Methods: We performed two separate case control studies on associations of the intron 6 polymorphism with two different kinds of cancer. In one case-control study, a total of 75 patients with thyroid carcinoma and 180 controls were analyzed and the other study included 170 patients with breast cancer and 135 healthy women. The intron 6 genotype was determined by RFLP-PCR and the SPSS 16 program was applied for data analysis. Results: For thyroid cancer, the frequencies of GG genotype were 96.0% in patients and 93.3% in controls. The GC genotype had a frequency of 4.0 % in patients and 6.7% in controls. In the study on breast cancer, the frequency of GG and GC genotypes in patients were 95.3% and 4.7%, respectively. In breast related control group, the frequency of GG genotype was 93.3 % and the frequency of GC genotype was 6.7%. None of the cases and controls had the CC genotype. Conclusions: There was no significant association between the TP53 intron 6 G13964C polymorphism and risk of development of both thyroid and breast cancer in Iranian-Azeri patients.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.17
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• pp.7529-7534
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• 2015

Background: The epidermal growth factor (EGF) plays important roles in non-small cell lung cancer (NSCLC) susceptibility and functional polymorphism in the EGF (+61A/G) gene has been linked to increased risk of NSCLC. This study aimed to evaluate the role of the EGF +61A/G polymorphism in risk of NSCLC adenocarcinoma (ADC) occurrence and survival in an Indian population. Materials and Methods: This casecontrol study included 100 histopathologically confirmed NSCLC (ADC) patients and 100 healthy controls. EGF (A61G) was genotyped by AS-PCR to elucidate putative associations with clinical outcomes. The association of the polymorphism with the survival of NSCLC patients was estimated by Kaplan-Meier curves. Results: It was found that EGF 61AG heterozygous and GG homozygous genotype is significantly associated with increased risk of NSCLC (ADC) occurrence compared to AA genotype, [OR 2.61 (1.31-5.18) and 3.25 (1.31-8.06), RR 1.51(1.15-2.0) and 1.72 (1.08-2.73) and RD 23.2 (6.90-39.5) and 28.53(7.0-50.1) for heterozygous AG (p=0.005) and homozygous GG (p=0.009)]. Patients homozygous for the G allele exhibited a significantly poor overall survival. The median survival time for patients with EGF 61 AA, AG, and GG genotypes was 10.5, 7.4, and 7.1 months (p=0.02), respectively. NSCLC (ADC) patients with GG + AG exhibited 7.3 months median survival compared to the AA genotype (p=0.009). Conclusions: The present study revealed that the EGF A61G genotype may be a novel independent prognostic marker to identify patients at higher risk of occurrence and an unfavourable clinical outcome.

• Asian-Australasian Journal of Animal Sciences
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• v.21 no.8
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• pp.1073-1079
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• 2008

The objectives of this study were to identify polymorphisms of insulin-like growth factor I (IGF-I) gene and to investigate their association with growth traits in Nanjiang Huang goats. Five hundred and ninety-two animals were used to detect the polymorphisms in the complete coding sequence, part of introns and the 5'-regulatory region of the IGF-I gene by means of PCR-SSCP. A new single nucleotide polymorphism (G to C transversion) was identified at intron 4 of the IGF-I gene in the goats. Two alleles and three genotypes were observed in this group. The frequency of G and C alleles was 54.6 and 45.4%, respectively. The statistical analysis showed that polymorphism of the IGF-I gene had a significant association (p<0.05) with birth weight (BW), body weight at 6 months (W6) and at 12 months (W12), heart girth at 2 months (G2), body length at 6 months (L6), wither height at 6 months (H6) and at 12 months (H12) and heart girth at 12 months (G12). The goats with genotype CC had significantly higher BW, W6, W12, G2, L6, H6, H12 and G12 than those with genotype GC and had significantly higher W12, H6, H12 and G12 than those with genotype GG. Therefore, genotype CC may be the most advantageous for growth traits in the Nanjiang Huang goat. However, no significant association between SNP genotypes and other growth traits was observed. These results indicated that the SNP marker of the IGF-I gene may be a potential molecular marker for growth traits in Nanjiang Huang goats.

• Asian-Australasian Journal of Animal Sciences
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• v.24 no.6
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• pp.744-751
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• 2011

Meat production and quality traits in beef cattle are largely affected by genetic factors. Acetyl-Coenzyme A carboxylase-${\alpha}$ (ACACA) plays a key role in the regulation and metabolism of fatty acid biosynthesis in mammalian animals. The gene encoding ACACA enzyme was chosen as a candidate gene for carcass and meat traits. In this study, we investigated effects of single nucleotide polymorphisms (SNPs) in the ACACA gene on beef carcass and meat traits in Hanwoo (Korean cattle) populations. We have sequenced a fragment of intron I region of the Hanwoo ACACA gene and identified two SNPs. Genotyping of the two SNP markers (g.2344T>C and g.2447C>A) was carried out using PCR-SSCP analysis in 309 Hanwoo steers to evaluate their association with carcass and meat production traits. The g.2344C SNP marker showed a significant increasing effect on LW (p = 0.009) and CW (p = 0.017). Animals with the CC genotype had higher CW and LW compared with TT and TC genotypes (p<0.05). The g.2447A SNP marker was associated with higher MC (p = 0.019). Animals with the AA genotype had higher MC than animals with CC and CA genotypes (p<0.05). Although the degree of linkage disequilibrium (LD) was not strong between g.2344T>C and g.2447C>A in the LD analysis, four major haplotype classes were formed with two SNP information within the ACACA gene. We constructed haplotypes using the HaploView software package program and analyzed association between haplotypes and carcass traits. The haplotype of ACACA gene significantly affected the LW (p = 0.027), CW (p = 0.041) and MC (p = 0.036). The effect of h1 haplotype on LW and CW was larger than that of h3 haplotype. Animals with the h1 haplotype also had greater MC than did animals with h2 haplotype. Consequently, the ACACA gene could be useful as a DNA marker for meat production traits such as carcass yield and meat contents in Hanwoo.

• Childhood Kidney Diseases
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• v.8 no.1
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• pp.26-32
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• 2004

Purpose : Hypercoagulability is present in patients with nephrotic syndrome. Plasminogen activator inhibitor type 1(PAI-1) is a major inhibitor of plasminogen activators. PAI-1 inactivates both tissue plasminogen activator(tPA) and urokinase plasminogen activator(uPA) by rapid formation of inactive 1:1 stoichiometric complexes. Recently some studies showed that the enhanced PAI-1 expression may be involved in the intraglomerular fibrinogen/fibrinrelated antigen deposition seen in nephrotic syndrome. Methods : PAI-1 gene promoter -844(G/A) polymorphism was evaluated in 146 children with minimal change nephrotic syndrome(MCNS) and 230 control subjects. The patients with MCNS were subdivided into 85 infrequent-relapser(IR) group and 61 frequent relapser(FR) group. PCR of PAI-1 gene promoter region including -844(G/A) and RFLP using the restriction enzyme Xhol were performed for each DNA samples extracted from the groups. Results : The distribution of PAI-1 genotype in the control group was G/G 81(32.5%), A/A 42(16.9%), and G/A 126(50.6%). The distribution of PAI-1 genotypes in the IR group of MCNS was G/G 29(34.1%), A/A 15(17.7%), and G/A 41(48.2%). The distribution of PAI-1 genotype in the FR group of MCNS was G/G 17(27.9%), A/A 18(29.5%), and G/A 26(42.6%). There was a significantly increased frequency of A/A genotype(P=0.0251) in the FR group of MCNS. Conclusion : Our results indicate that the PAI-1 gene promoter A/A genotype may be associated with the FR in MCNS.

• Asian-Australasian Journal of Animal Sciences
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• v.18 no.4
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• pp.458-462
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• 2005

The study was aimed at detecting polymorphism of the fifth intron in lipoprotein lipase (LPL) gene and analyzing association between the polymorphism and productive traits. A pair of primers was designed for amplifying the fifth intron. Sequence analysis indicated that a G1171C substitution existed in Large White breed. The mutation was detected by PCR-AfaI-RFLP. Polymorphism analysis in a pig resource family showed that there existed significant effects on carcass and meat quality traits. Thoraxwaist fat thickness of BB genotype was significantly higher (14.2%, p<0.05) than that of AA on carcass traits, while BB genotype was significantly lower (3.6% p<0.01, 4.1% p<0.01; 2.3% p<0.01, 1.9% p<0.01; 1.8% p<0.01, 1.4% p<0.05) than AA and AB genotype in pH of m. Longissimus Dorsi (LD), m. Biceps Femoris (BF), m. Semipinali Capitis (SC). The allelic frequencies were also significantly different between indigenous Chinese breeds and exotic breeds. Data analyzed revealed that the mutation locus affected production traits mostly by additive effects. Based on these results, it is necessary to do more studies on LPL gene before making the LPL locus into the application of marker-assisted selection (MAS) programs.

• Asian-Australasian Journal of Animal Sciences
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• v.19 no.4
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• pp.554-562
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• 2006

Two lines of mice, M16 selected for rapid growth and a randomly selected control ICR as well as their reciprocal crosses were used to study the effects of genotype on whole-body energetics and intestinal responses to monensin. Six mice, eight weeks of age, from each line or reciprocal cross were assigned to one of two treatments, 1) drinking water containing 20 mmol/L monensin dissolved in 0.5% V/V ethanol, and 2) drinking water containing 0.5% V/V ethanol (control) for two weeks. After 11 days (age of 9 weeks and 4 days), whole-body $O_2$ consumption was measured. At the end of two weeks, jejunal $O_2$ consumption, intestinal tissue composition and histomorphometrics as well as the rate and efficiency of glucose absorption were estimated. In comparison with the control, monensin administration in drinking water resulted in less daily water intake (13.4 vs. 15.5 ml/mouse, p<0.01), less protein to DNA ratio of jejunal mucosa (5.41 vs. 6.01 mg/mg, p<0.05), lower villus width (88 vs. $100{\mu}m$, p<0.05), and less jejunal tissue $O_2$ consumption enhancement by alcohol (7.2 vs. 10.5%, p<0.01) in mice. Other than those changes, monensin had little (p>0.05) effect on variables measured in either line of mice or their reciprocal cross. In contrast, the M16 line, selected for rapid growth, as compared to the ICR controls or the reciprocal crosses, had less initial (pre-monensin treatment) whole-body $O_2$ consumption per gram of body weight (1.68 vs. $2.11-2.34{\mu}mol/min{\cdot}g$ BW, p<0.01) as compared to the ICR and reciprocal crosses. In addition, the M16 mice exhibited greater growth (412 vs. 137-210 mg/d, p<0.05), better feed efficiency (41.7 vs. 19.9-29.3 mg gain/g feed, p<0.05), shorter small intestines adjusted for fasted body weight (1.00 vs. 1.22-1.44 cm/g FBW, p<0.05), wider villi (109 vs. $87-93{\mu}m$, p<0.05), more mature height of enterocytes (28.8 vs. $24.4-25.1{\mu}m$, p<0.05) and a lower rate (91 vs. $133-145{\eta}mol\;glucose/min{\cdot}g$ jejunum, p<0.05) and less energetic efficiency (95 vs. $59-72{\eta}mol$ ATP expended/${\eta}mol$ glucose uptake, p<0.05) of glucose absorption compared to the ICR line and the reciprocal cross. Monensin had little (p>0.05) effect on whole-body $O_2$ consumption and jejunal function, whilst selection for rapid growth resulted in an apparent down-regulation of intestinal function. These data suggest that genetic selection for increased growth does not result in concomitant changes in intestinal function. This asynchrony in the selection for production traits and intestinal function may hinder full phenotypic expression of genotypic growth potential.

• Korean Journal Plant Pathology
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• v.10 no.2
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• pp.92-98
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• 1994

Phytophthora infestans populations collected from various geographical locations of Korea in 1991 and 1993 were analyzed for mating types and responses to metalaxyl. Both A1 and A2 mating type isolates were detected in 1991. The majority of the isolates were A2 mating type, but no A1 mating type was detected in 1993. About 40% of the isolates collected in 1991 were resistant to metalaxyl, and the distribution of metalaxyl-resistant isolates of P. infestans was strongly associated with their geographic origins in Korea. Metalaxyl-resistant isolates with EC50 values > 50$\mu\textrm{g}$/ml were collected from the northern provinces of Kangwon, Kyungbuk, and Chonbuk, but not from the southern provinces of Kyungnam, Chonnam, and Jeju in 1991. The drastic increase in the degree of quantitative resistance to metalaxyl was detected among the isolates from the southern provinces during 1991~1993. More than 50% of the isolates collected from the southern provinces of Kyungnam and Chonnam in 1993 had EC50 values >50$\mu\textrm{g}$/ml. The province of Kangwon had isolates with the greatest resistance to metalaxyl. this alpine areas might be the origin of metalaxyl-resistant isolates of P. infestans in Korea. The A2 genotype with metalaxyl resistance appears to be displacing the A1 genotype which is presently the predominant genotype in Korea.

• Korean Journal of Veterinary Service
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• v.36 no.1
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• pp.23-30
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• 2013

An avian rotavirus (AvRV-2) was isolated from feces of broilers suffering from acute gastroenteritis in 2011. It was the first avian rotavirus isolated in Korea. To investigate the molecular characteristics of AvRV-2, the VP4, VP6, VP7 and NSP4 gene nucleotide sequences were determined and compared with those of rotavirus strains available in the GenBank database. The phylogenetic tree of VP7 gene showed that AvRV-2 had a high degree of nucleotide sequence homology (93.4% to 94.7%) with those of rotaviruses belonging to genotype G19 cluster. The phylogenetic tree of the VP4 gene revealed a high degree of nucleotide sequence homology (95.8% to 95.9%) with genotype P[30] rotaviruses isolated from chickens. The VP6 and NSP4 gene nucleotide sequences showed the highest identities with those of avian strains with 95.3% to 96.4% and 90.3% to 92.2%, respectively. Genetic characterization of the VP4, VP6, VP7 and NSP4 showed that AvRV-2 strain was most closely related to chicken rotavirus strains from Germany and Japan. Comparative nucleotide sequences and phylogenetic analysis indicated that avian rotavirus isolated from broilers belonged to genotype G19P[30] and it was the first report on avian rotavirus infection in Korea.

• BMB Reports
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• v.36 no.6
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• pp.533-537
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• 2003

The nonsyndromic cleft lip and palate (NSCL/P) is a congenital deformity of multifactorial origin with a relatively high incidence in the oriental population. Various etiologic candidate genes have been reported with conflicting results, according to race and analysis methods. Recently, the ablation of the TGF-${\beta}3$ gene function induced cleft palates in experimental animals. Also, polymorphisms in the TGF-${\beta}3$ gene have been studied in different races; however, they have not been studied in Koreans. A novel A $\rightarrow$ G single nucleotide polymorphism (defined by the endonuclease SfaN1) was identified in intron 5 of TGF-${\beta}3$ (IVS5+104 A > G). It resulted in different genotypes, AA, AG, and GG. The objective of this study was to investigate the relationship between the SfaN1 polymorphism in TGF-${\beta}3$ and the risk of NSCL/P in the Korean population. The population of this study consisted of 28 NSCL/P patients and 41 healthy controls. The distribution of the SfaN1 genotypes was different between the cases and controls. The frequency of the G allele was significantly associated with the increased risk of NSCL/P [odds ratio (OR) = 15.92, 95% confidence interval (CI) = 6.3-41.0]. The risk for the disease increased as the G allele numbers increased (GA genotype: OR = 2.11, 95% CI = 0.38-11.68; GG genotype: OR = 110.2, 95% CI = 10.67 - 2783.29) in NSCL/P. A stratified study in patients revealed that the SfaN1 site IVS5+104A > G substitution was strongly associated with an increased risk of NSCL/P in males (p < 0.001), but not in females. In conclusion, the polymorphism of the SfaN1 site in TGF-${\beta}3$ was significantly different between the NSCL/P patients and the control. This may be a good screening marker for NSCL/P patients among Koreans.