• Korean Journal of Veterinary Research
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• v.34 no.2
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• pp.243-247
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• 1994

As a result of the detection of mitochondrial DNA(mtDNA) polymorphism to Thoroughbred and Percheron using 14 restriction enzymes, mtDNA polymorphism of Cheju horse observed in the Bam HI and Sac I. Only in both restriction enzymes two types were classified as of A type, which is high expression frequency and B type, which is low expression frequency. In the other 12 restriction enzymes mtDNA polymorphism was not detected. On the basis of this information mtDNA polymorphism of Cheju horse was examined but was not observed the polymorphism and only A type was expressed both Bam HI and Sac I restriction enzymes. Through this study Cheju horse was demonstrated that lower genetic variation was expressed from the detection of mtDNA polymorphism.

• The Journal of Korean Medicine
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• v.25 no.3
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• pp.105-110
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• 2004

Objectives : Sasang Constitutional Medicine is based on the diversity of human beings and medically developing a variation of responses to diseases and medicines. This diversity is categorized into four concerning morphology, physiology, pathology, and pharmacology. It is supposed that sasang constitutional medicine is related the genetic diversity of individuals. Single nucleotide polymorphism is the basic tool to research genetic polymorphism as a landmark of genomes. Each constitution has different processes of pathophysiology and metabolisms to herb medications. In clinical research, the stroke incidence is significantly different by constitution. Methods : We researched whether the polymorphic expression of CCK (rs=2241997) depends on sasang constitution. The [c/t] polymorphism site of promotor region of CCK gene on 3p22-p21.3 was investigated. Results : The allele frequency of [c/t] polymorphism of CCK promotor region was different in constitution groups compared to the average allele frequency of SNP DB. The allele frequencies of Soeumin and Soyangin groups were (c:0.70/t:0.30). and (c:0.71/t:0.29), that of Taeumin group was (c:0.57/t:0.43) and of Taeyangin group was (c:1.00/t:0.00) Conclusions : It was regarded the [c/t] polymorphism of CCK promotor region is available to classify the constitution. However, it is necessary to research about CCK gene polymorphism and more constitution population groups. It is also necessary to research the more functional gene's polymorphism and sasang constitution.

• Environmental Mutagens and Carcinogens
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• v.22 no.1
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• pp.39-46
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• 2002

Obesity is a complex metabolic disorder with a strong genetic component. There are many candidate genes for obesity and its related phenotypes. We studied genetic variations between Korean obese and lean groups. Polymorphisms investigated were the Msp I polymorphism of the $\alpha$$_{2A}$-adrenergic receptor ($\alpha$$_{2A}$-AR) gene, the Mnl I polymorphism of the $\alpha$$_2$-adrenergic receptor ($\alpha$$_2$-AR) gene, the BstO I polymorphism of the $\beta$$_3$-adrenergic receptor ($\beta$$_3$-AR) gene, the Pml I polymorphism of the lamin A/C (LMNA) gene, the Hga I polymorphism of the clearance receptor (NPRC) gene, the Msp I polymorphism of the leptin gene, BclI polymorphism of the uncoupling protein 1 (UCPI) gene and the Hha I polymorphism of the fatty acid binding protein 2 (FABP2) gene. Among these genetic markers, Pml I polymorphism at the LMNA gene and Bcl I polymorphism at the UCP1 gene were significantly associated with obesity. However, further studies are required whether thease findings are reproduced in large population, although two polymorphisms might be useful as genetic markers in the ethiology of obesity in Korean population.ion.

• Tuberculosis and Respiratory Diseases
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• v.45 no.3
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• pp.529-535
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• 1998

Background: Interleukin-4 plays an important role in pathogenesis of asthma, especially in developing atopy by means of switching B lymphocytes to produce IgE. It has been shown that there is polymorphism in the Interleukin-4 promoter region, transversion of cytosine to thymine at-598 from translation initiation site of IL-4 gene. There has also been quite a few works to reveal the role of the polymorphism of IL-4 gene in patients with asthma. We performed this investigation to determine the role of the polymorphism in the severity of symptoms of patients with asthma. We also examined the frequency and the type of the polymorphism in asthmatics compared with non-asthmatics as well. Method: The subjects enrolled in this study were 49 asthmatics and 33 non-asthmatics. All the asthmatics were classified as mild and moderate to severe by the NHLBI/WHO Workshop. DNA from both asthmatics and non-asthmatics was extracted, then performed ARMS(Amplification Refractory Mutation System) as well as RFLP using BsmFl restriction enzyme in order to confirm the polymorphism of Il-4 gene. Results: There was no significant difference in the occurrence of polymorphism of the IL-4 promoter sequence between asthm and non-asthma groups(P=0.7). Among those with polymorphisms, the number of C/C type was slightly more than C/T type in both asthmatics and non-asthmatics, 26 vs 21 in asthmatics and 18 vs 15 in non-asthmatics, which was, however, insignificant statistically. No significant relationship between the severity of asthma and the polymorphism was found(P=0.7). Conclusion: There was no significant difference between the severity of asthma and the IL-4 promoter polymorphism(P=0.709). Interestingly, the frequency of the polymorphism in both asthmatics as well as non-asthmatics was found to be even higher than that occurred in Caucasians. However, no significant difference in the frequency of the polymorphism was found in both groups.

• 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.

• YAKHAK HOEJI
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• v.49 no.1
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• pp.44-50
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• 2005

The purpose of this study was to investigate the relationship between Trp64Arg polymorphism in the ${\beta}_3$-adrenergic receptor gene and complex phenotypes such as blood pressure, body compositions and bone parameters in young men about 20 years, and to collect the fundamental data in designing the exercise program. Eighty healthy young men including 41 controls and 39 athletes were recruited, Trp64Arg polymorphism in the ${\beta}_3$-adrenergic receptor gene was genotyped by PCR-RFLP method. By association study, there were no significance in genotype and allele frequencies of Trp64Arg polymorphism in the ${\beta}_3$-adrenergic receptor gene between controls and athletes, respectively (p>0.05). When the relationship between physiological parameters and Trp64Arg polymorphism in the ${\beta}_3$-adrenergic receptor gene was tested, this polymorphism was significantly associated with 3th lumber and left femoral neck Z-score values in controls (p<0.05), but these associations were not detected in athletic groups (p>0.05). It is likely that Trp64Arg polymorphism in the ${\beta}_3$-adrenergic receptor gene is a genetic marker for the bone mineral density index in young men, but environmental factors such as exercise modify the significant effect of this polymorphism. Thus, our results suggest that Trp64Arg polymorphism in the ${\beta}_3$-adrenergic receptor gene may be applicable as a predictive marker for osteoporosis in Korean young men, and regular exercise may prevent the disadventageous effect of this polymorphism for bone mineral density in male athletic group.

• Korean Journal of Biological Psychiatry
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• v.8 no.1
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• pp.111-115
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• 2001

An association study with Korean alcoholic patients(n=50) and normal controls(n=53) was performed to find the relationship between catechol-O-methyltransferase(COMT) gene polymorphism and alcoholism using polymerase chain reaction-restriction fragment length polymorphism. When we compared the allele and genotype frequencies of Nla III COMT gene polymorphism in alcoholism and normal controls, there was no significant difference between two groups. Our results do not support an association between the Nla III polymorphism of COMT gene and alcoholism.

• Korean Journal Plant Pathology
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• v.12 no.4
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• pp.389-394
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• 1996

도열병균, Magnaporthe grisea, 균주간의 유전적 유연관계를 분석하고 그들의 유전에 관한 '기본 정보를 얻고자 DNA polymorphism 분석을 실시하였다. 기주가 다른 도열병 균주들이 공시되었고 cloning에 의해 벼 도열병균 KJ201레이스 균주로부터 생성된 임의 선발 genomic clone들이 공시균주들간의 polymorphism을 밝히기 위해 사용되었던 바 그중 repectitive sequence를 보유한 repeated copy clone 하나가 선발되었다. Clone pMJ6에 의해 밝혀진 repetitive sequence는 Southern hybridization시 벼 분리균주에는 약 30개, 다른 기주 분리균에도 20∼33개의 밴드를 형성하였다. 반면 피 분리균주에는 단지 두 개의 밴드만을 나타내 분리기주가 다른 균주간에 뚜렷한 polymorphism이 존재하였으며 parsimony 분석에서도 역시 아주 먼 cluster를 형성하여 피 분리균은 다른 기주 분리균과 유전적으로 상당히 먼 것으로 추정되었다. 공시균의 genomic DNA를 HindIII로 처리했을 때 pMJ6에 의한 밴드양상은 공시균을 EcoRI으로 처리했을 때의 MGR probe의 밴드 양상과 유사하여 이 repeated copy clone이 도열병균주간의 유전적 유연관계를 분석하는데 MGR 못지않게 유용할 것으로 보인다.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.6
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• pp.2857-2861
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• 2014

More and more evidence indicates that the G801A polymorphism in the CXCL12 gene might be associated with susceptibility to breast carcinoma in humans being. However, individually published results have been inconsistent. The purpose of this meta-analysis was to investigate the association between the G801A polymorphism in the CXCL12 gene and breast carcinoma risk. A complete search strategy was done by the electronic databases including PubMed and Chinese Biomedical Literature Database. A meta-analysis including seven individual studies was carried out in order to explore the association between the G801A polymorphism in the CXCL12 gene polymorphisms and breast carcinoma. The pooled odds ratios (ORs) and their corresponding 95% confidence intervals (95%CIs) between the G801A polymorphism in the CXCL12 gene and breast carcinoma risk were assessed by the random-effects model. A significant relationship between the G801A polymorphism in the CXCL12 gene and breast carcinoma was discovered in an allelic genetic model (OR: 1.214, 95%CI: 1.085-1.358, p=0.001), a homozygote model (OR: 1.663, 95%CI: 1.240-2.232, p=0.001), a heterozygote model (OR: 1.392, 95%CI: 1.190-1.629, p=0.000), a recessive genetic model (OR: 1.407, 95%CI: 1.060-1.868, p=0.018) and a dominant genetic model (OR: 1.427, 95%CI: 1.228-1.659, p=0.000). On sub-group analysis based on ethnicity, significance was observed between the European group and the mixed group. A significant relationship was found between the G801A polymorphism in the CXCL12 gene and breast carcinoma risk. Individuals with the A allele of the G801A polymorphism in the CXCL12 gene are under a higher risk for breast carcinoma.

• Journal of Sasang Constitutional Medicine
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• v.14 no.2
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• pp.98-105
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• 2002

Purpose This study was carried out to investigate the correlation between Sasang constitution and lL-4 polymorphism of Atopy gene. Methods 1. We have selected 165 cases of DNA samples from individuals with proven history of Atopy symptom and Sasang constitution. 2. The lL-4 589C-T polymorphism was genotyped by PCR-restriction fragment length polymorphism analysis. Result They were divided six groups as the history of atopy and age. There is no group shown statistical correlation in the result of constitutional lL-4 polymorphism typing. Conclusion 1. In the total groups, lL-4 polymorphism(589C-T change of 5q31-33 position) were noted 0.727 on Soumin, 0.790 on Soyangin and 0.809 on Taeumin. It was larger on Taeumin, but there is no stastical difference between. 2. In the Atopy groups, lL-4 polymorphism(589C-T change of 5q31-33 position) were noted 0.682 on Soyangin, 0.750 on Taeumin and 0.807 on Soumin. It was larger on Soumin, but there is no stastical difference between constitution.