• Biomedical Science Letters
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• v.4 no.1
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• pp.11-25
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• 1998

The HLA genes located in the short arm of chromosome 6 specify heterodimeric glycoproteins involved in the regulation of the immune response. Recently, in the elucidation of HLA polymorphism, serological and cellular typing methods have been replaced by DNA typing using polymerase chain reaction (PCR). The purpose of this study was to establish the HLA DNA typing methods and determine gene frequencies of HLA molecules in Koreans. PCR-SSP (sequence specific primers) and PCR-RFLP (restriction fragment length polymorphism) techniques were used for the analysis of HLA-A, -B, -C, DRBl genes and HLA-DQAl, DQBl, DPBl genes, respectively. The results of B-lymphoblastoid cells used for control experiment were consistent with the previous data identified in the 11th International Histocompatibility Workshop. Seventeen, 23, 16, 8, 16, 13 and 37 types of HLA-A, B, C, DQAl, DQBl, DPBl and DRBl alleles were found, respectively, in a total of unrelated 120 Korean individuals. The most frequent HLA alleles were $A^*$02 (27.0%), B$^*$40 (17.6%), Cw$^*$01 (19.2%), DQAl$^*$0301 (32.1%), DQBl$^*$0303 (12.9%), DPBl$^*$0501 (31.3%) and DRBl$^*$1501 (9.2%) among Koreans. This study shows that DNA typing method using PCR technique is a relatively simple, fast and practical tool for the determination of the HLA-class I and II genes. Moreover, the data of HLA gene frequencies could be useful for the Korean database before clinical applications, including organ and unrelated bone marrow transplantation, anthropological study, disease association and individual identification.

• Korean Journal of Poultry Science
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• v.41 no.1
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• pp.7-14
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• 2014

Tyrosinase (TYR) gene is located on chromosome 1 in chicken and it is composed of five exons and four introns. TYR gene is described as a key enzyme in melanin biosynthesis. Most examples of complete albinism in chicken have been due to defects in the tyrosinase gene. The association of feather color and sequence polymorphism in the Tyrosinase (TYR) gene was investigated using Korean Native chicken H breed (H_PL), Korean Native chicken L/W breed(L/W_PL) and 'Woorimatdag' commercial chickens (Woorimatdag_CC). From L_PL and W_PL breed analyses, 4 synonymous SNPs (locus G33A, G116A, C217T and C247T) and 2 SNPs (G838A and G958A) were detected in 4th exon and 4th intron of TYR gene respectively. The genotype frequencies for 6 SNPs were compared between L_PL and W_PL and W_PL represented homozygous SNP types in all the analyzed SNP positions while L_PL displayed various SNP types.

• Journal of Animal Science and Technology
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• v.45 no.2
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• pp.191-198
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• 2003

This study was carried out to investigate a usefulness of the microsatellite DNA markers for individual identification and parentage verification in three dog breeds. A total of 59 random dog (31 Chiwawa, 20 Poongsan, 8 Labrador Retriever) samples were genotyped by using 14 markers (Chiwawa dog), 16 markers (Poongsan dog), and 12 markers (Labrador Retriever dog) among the 17 international standard markers (PEZ1, 3, 5, 6, 8, 10, 11, 12, 13, 15, 16, 17, 20, 21, FHC2010, FHC2054 and FHC2079), respectively. The number of alleles per locus varied from 4 to 14 with a mean value of 6.07 in Chiwawa dog, 2 to 9 with a mean of 4.75 in Poongsan dog, and 3 to 5 with a mean of 4.00 in Labrador Retriever dog. Observed heterozygosity was ranged 0.419${\sim}$0.968 (mean 0.755), 0.300${\sim}$0.950 (mean 0.597) and 0.125${\sim}$0.750 (mean 0.604), and expected heterozygosity was ranged 0.432${\sim}$0.883 (mean 0.711), 0.262${\sim}$0.817 (mean 0.559) and 0.425${\sim}$0.808 (mean 0.660) in these three dog breeds. PIC value was ranged 0.397${\sim}$0.856 (mean 0.659), 0.222${\sim}$0.772 (mean 0.503) and 0.354${\sim}$0.717 (mean 0.563) in these three dog breeds. Of the 17 markers, PEZ1, PEZ3, PEZ6, PEZ10, PEZ12 loci, PEZ1, PEZ6, PEZ13 loci, and PEZ8, PEZ12 loci have relatively high PIC value (＞0.7) in Chiwawa dog, Poongsan dog and Labrador Retriever dog, respectively. The exclusion probability was ranged 0.240${\sim}$0.741, 0.111${\sim}$0.616, and 0.198${\sim}$0.529, and the combination of microsatellite loci was 0.9999, 0.9991, and 0.9968 in Chiwawa dog, Poongsan dog and Labrador Retriever dog, respectively. These results can give basic information for developing parentage verification and individual identification system in these three dog breeds.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.3
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• pp.1181-1186
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• 2014

Sialyltransferase gene expression is altered in several cancers, including examples in the cervix. Transcriptional regulation of the responsible genes depends on different promoters. We aimed to determine the association of single-nucleotide polymorphisms in the B3 promoter of the ST3GAL4 gene and the P1 promoter of the ST6GAL1 gene with cervical premalignant lesions or cervical cancer. A blood sample and/or cervical scrapes were obtained from 104 women with normal cytology, 154 with premalignant lesions and 100 with cervical cancer. We also included 119 blood samples of random donors. The polymorphisms were identified by sequencing from PCR products. For the B3 promoter, a fragment of 506 bp (from nucleotide -408 to +98) was analyzed, and for the P1 promoter a 490 bp (-326 to +164) fragment. The polymorphism analysis showed that at SNP rs10893506, genotypes CC and CT of the ST3GAL4 B3 promoter were associated with the presence of premalignant lesions (OR=2.89; 95%CI 1.72-4.85) and cervical cancer (OR=2.23; 95%CI 1.27-3.91). We detected only one allele of each polymorphism in the ST6GAL1 P1 promoter. We did not detect any genetic variability in the P1 promoter region in our study population. Our results suggest that the rs10893506 polymorphism -22C/T may increase susceptibility to premalignant and malignant lesions of the cervix.

• Journal of Radiation Protection and Research
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• v.38 no.2
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• pp.106-118
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• 2013

In this paper, we analyzed the Cognition of irradiated food and its relation with self-efficacy. The most important variables described behaviors based on health choices compared with the choice to choose irradiated food items. According to the survey, 33.1% of respondents said that the reason why irradiated food is considered to be a health risk is because "radiation is dangerous". 27.9% of respondents answered that "eating irradiated food is like eating a radioactive substance", 21.1% said radiated food is comparable to a "genetic variation in food" while 10.1% said "food goes bad during the irradiation process". On this basis, it is reasonable to conclude that respondents have a misunderstanding of irradiated food without reference to the general theory of irradiated knowledge. In this respect, it would be helpful to provide education showing that irradiated food is not related to eating harmful or genetically modified food to help high school students create informed opinions of irradiated food. In terms of relevance with health-specific self-efficacy, experience of acquiring information about irradiated food was marked at r=0.148 (p<0.01), experience of purchasing irradiated food was marked at r=0.077 (p<0.05), experience of eating irradiated food was marked at r=0.113 (p<0.01) while knowledge of irradiated food, attitude towards irradiated food and behavior was marked at r=0.103 (p<0.01), r=0.076 (p<0.05) and r=0.105 (p<0.01) respectively. This shows that self-efficacy is high when one has experience of acquiring information about irradiated food, purchasing or eating irradiated food resulting in a high level of knowledge, attitude and behavior. Education which serves to improve the level of self-efficacy needs to be provided along with an educational program which will increase the public's understanding of irradiated food. It is expected that if this education which increases the level of self-efficacy is provided together with correct information of irradiated food, behavior to choose and eat irradiated food will also improve.

• Korean Journal of Biological Psychiatry
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• v.15 no.4
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• pp.275-287
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• 2008

Depression and coronary artery disease are both highly prevalent diseases. Many previous studies suggest that depression is a common comorbid condition in patients with coronary artery disease and has a significant negative impact on the onset, course, and prognosis of coronary artery disease. However, the exact mechanisms that underlie the association between these two diseases remain unclear. Pathophysiologic mechanisms that may explain the effect of depression on coronary artery disease include hypercoagulability, hypothalamus-pituitary-adrenal axis and autonomic nervous system dysregulation, altered inflammatory response. On the contrary, pathophysiologic mechanisms in coronary artery disease that affect depression are less well known. It is also suggested that both diseases may share a common genetic vulnerability. The authors reviewed the literature on the pathophysiologic relationships of depression and coronary heart disease.

• Journal of Genetic Medicine
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• v.5 no.2
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• pp.119-124
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• 2008

Purpose: Aneuploidy is the cause of diseases such as Down syndrome or Edward syndrome and, more generally, is a major cause of mental retardation and fetal loss. The purpose of this study was to evaluate the association between MTHFR (C677T) or MTRR (A66G) polymorphisms and fetal aneuploidy. Materials and Methods: Data was collected from 37 women who had a fetus with aneuploidy (cases) and 78 women who had previously delivered at least two healthy children without aneuploidy and did not have a history of miscarriage or abnormal pregnancy (controls). The MTHFR (C677T) or MTRR (A66G) polymorphisms were analyzed by PCR-restriction fragment length polymorphism assay. Results: The frequencies of the MTHFR 677 CC, CT, and TT genotypes were 30.7%, 48.7%, and 20.6% in the control group and 37.8%, 48.6%, and 13.5% in the case group, respectively. There were no significant differences in genotype frequencies between the two groups. For the MTRR A66G polymorphism, the frequencies of the AA, AG and GG genotypes were 50%, 46.1%, and 3.9% in the control group and 13.5%, 81.1%, and 5.4% in case group, respectively. The frequency of the MTRR AG mutant was significantly increased in the case group, with an odds ratio of 6.5 (95% CI: 2.3-18.6, P<0.05). Conclusion: The results of this study suggest that mother carriers with the MTRR G allele have an increased risk of fetal aneuploidy, while the MTHFR T allele is not associated with increased risk of fetal aneuploidy. The MTRR A66G polymorphism may be a risk factor for producing a child with chromosomal aneuploidy.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.23 no.1
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• pp.49-62
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• 2020

Purpose: We aimed to investigate the disease phenotype of Korean pediatric Crohn's disease (CD) patients at diagnosis according to the Paris classification by comparison with patients from the European multicenter 5-years recruitment of children with newly developed IBD (EUROKIDS registry). Methods: Korean children and adolescents who had been newly diagnosed with CD at the age of <18 years during 2013-2016 were included in this multicenter retrospective study. Disease phenotype at diagnosis was classified according to the Paris classification, and compared with the published data from the EUROKIDS study. Results: A total of 255 patients were included. The median diagnosis age was 14.7 years (range, 0.8-17.9 years). No significant difference was observed in male-to-female ratio with EUROKIDS (1.9:1 vs. 1.45:1, p=0.062). The proportion of children aged <10 years was significantly lower in Koreans (7.1% vs. 19.6%, p<0.001). Colonic disease was less prominent (10.0% vs. 27.3%, p<0.001), while upper GI involvement was more prominent in Korean children (59.3% vs. 46.2%, p<0.001). The proportion with perianal fistulizing disease at diagnosis was significantly higher in Korean patients (44.8% vs. 8.2%, p<0.001). A separate analysis of Korean patients revealed that perianal fistulizing disease at diagnosis was positively associated with male sex and body mass index z-score (odds ratio [OR]=2.12, 95% confidence interval [CI]=1.20-3.76, p=0.010; and OR=1.29, 95% CI=1.05-1.58, p=0.015, respectively). Conclusion: Approximately half of pediatric CD patients in Korea present with perianal fistulas and/or abscesses at diagnosis, which is a distinct feature of CD in Korean children and adolescents compared to their European counterparts. An underlying genetic difference between ethnicities may play a role in this expression of different phenotypes in pediatric CD.

• Clinical and Experimental Reproductive Medicine
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• v.31 no.2
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• pp.133-139
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• 2004

Objective: To investigate the association of FSH receptor (FSHR) polymorphism at position 680 with outcomes of controlled ovarian hyper-stimulation for IVF-ET in Korean women. Design: Genetic polymorphism analysis. Materials and Methods: The FSHR polymorphism was analyzed by PCR-RFLP in 172 ovulatory women below the age of 40 year. Patients with polycystic ovary syndrome, endometriosis, or previous history of ovarian surgery were excluded. Results: Genotype distribution was 41.9% for the Asn/Asn, 47.7% for the Asn/Ser, and 10.5% for the Ser/Ser FSHR genotype group. There was no difference in age of subjects and infertility diagnosis between genotype groups. When the patients were grouped according to their FSHR genotype, the basal levels of FSH (day 3) were significantly different among the three groups ($6.0{\pm}0.3\;IU/L$ (mean $\pm$ SEM), $5.8{\pm}0.3\;IU/L$, and $8.6{\pm}1.2\;IU/L$ for the Asn/Asn, Asn/Ser, and Ser/Ser groups, respectively, p=0.002). The Ser/Ser group showed a higher total doses of gonadotropins required to achieve ovulation induction, and a lower serum estradiol levels at the time of hCG administration compared with other two groups, but the differences were of no statistical significance. The numbers of oocytes retrieved were significantly different among the three groups ($8.6{\pm}0.8$, $9.9{\pm}0.6$, and $6.3{\pm}0.9$, for the Asn/Asn, Asn/Ser, and Ser/Ser groups, respectively, p=0.049). Clinical pregnancy rates were 42.4%, 25.9%, and 29.4% for the Asn/Asn, Asn/Ser, and Ser/Ser groups, respectively. Conclusion: Homozygous Ser/Ser genotype of FSHR polymorphism at position 680 was associated with decreased ovarian response to gonadotropin stimulation for IVF-ET.

• Korean Journal of Environment and Ecology
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• v.28 no.2
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• pp.182-196
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• 2014

In this study, for the forest vegetation classification and the quantitative analysis of the Picea jezoensis and Abies hollophylla stand, the type classification of the vegetation structure was performed with Z-M phytosociological method, and as a result, it was classified into the Picea jenoensis community and the Abies holophylla community in the community unity. The Picea jezoensis community was subdivided into the Rosa koreana group and the Acer ukurunduense group in the group unity and the Abies holophylla community was subdivided into the Acer mandshuricum group and the Lindera obtusiloba group. In the results of estimating the importance value based on the classified vegetation unity, it was deemed that the dominance of the Picea jezoensis would be continued for a while as the importance value from the tree layers of vegetation unity 1 and 2 represented relatively high with 30.73% and 20.25%. In addition, in the results of analyzing the species diversity to estimate the maturity of the community, the species diversity index of the vegetation unity 4 was the lowest with 0.6976 and that of vegetation unity 2 was the highest with 1.1256. As in the similarity between the communities, the vegetation unit 1 and 4 and the vegetation unit 2 and 4 represented low with 0.2880 and 0.3626, respectively, and the similarity between the vegetation unit 1 and 2 and between 2 and 4 represented 0.5411 and 0.5041, respectively, it was deemed that they were the communities that the difference in the composition species between the communities was not big. In the results of analyzing the Chi-square matrix and the catalog of constellations for the interspecific, they were divided mainly into two types, and type 1 plant species were mostly differential species and the characteristic species, which appeared in the Picea jezoensis community classified phytosociologically, and type II plant species were mostly the species appearing in the Abies holophylla community growing in the relatively damp places. Such results is deemed that the positive (+) correlation is recognized among the species, of which growing environments are similar, and the negative (-) correlation .represents among the species, of which preferential environments are different.