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신동직,김영진,김욱,Shin, Dong-Jik,Kim, Yung-Jin,Kim, Wook The Korean Society for Integrative Biology 1998 Korean journal of biological sciences Vol.2 No.2
We examined Y chromosomal DNA polymorphisms at the DYS19 and DXYS5Y loci in a total of 480 unrelated male samples from the Korean population. All five common alleles were identified at the tetranucleotide microsatellite locus DYS19 in this study. The C allele was the most frequent (212/480), followed by D (136/480), B (75/480), E (36/480) and A (21/480) allele. The frequency of Y2 allele at the DXYS5Y locus was found to be 4.6% (22/480). Combining the allelic variation at these two loci resulted in a total of 9 combination haplotypes. The mean combination haplotype diversity wIns 0.72. Based on the results of these two loci, Korean and Japanese populations may share some common genetic structure that is rare or absent in the other ethnic groups. The genetic similarity between Korean and Japanese populations may be due to the large infusion of Y chromosomes through the Yayoi migration starting 2,300 years ago from Korea to Japan.
청소년 고혈압 관련 유전자의 연관성 분석: Kangwha Study
서일,남정모,김성주,신동직,허남욱,강대룡,Suh, Il,Nam, Chung-Mo,Kim, Sung-Joo,Shin, Dong-Jik,Hur, Nam-Wook,Kang, Dae-Ryong 대한예방의학회 2006 예방의학회지 Vol.39 No.2
Objectives : In this study we examined the association between the genetic markers ACE (A-240T, C-93T, I/D, A2350G), AGT (M235T), AT1R (A1166C), CYP11B2 (T344C, V386A), REN (G2646A), ADRB2 (G46A, C79G, T47C, T1641), GNB3 (C825T) and ADD1 (G460W) and the presence of essential hypertension in adolescents. Methods : The Kangwha Study is an 18-year prospective study that is aimed at elucidating the determinants of the blood pressure level from childhood to early adulthood. For this study, we constructed a case-control dataset of size of 277 and 40 family trios data from the Kangwha Study. For this purpose, we perform a single locus-based case-control association study and a single locus-based TDT (transmission/disequilibrium test) study. Results : In the case-control study, the single locus-based association study indicated that the ADD1 (G460W) (p=0.0403), AGT (M235T) (p=0.0002), and REN (G2646A) (p=0.0101) markers were significantly associated with the risk of hypertension. These results were not confirmed on the TDT study. This study showed that genetic polymorphisms of the ADD1, AGT and REN genes might be related to the hypertension in Korean adolescents. Conclusions : This study provided useful information on genetics markers related to blood pressure. Further study will be needed to confirm the effect of the alpha adducin gene, the angiotensinogen gene and the renin gene on essential hypertension.
Ah-Ram Park(박아람),Eun-Soon Shin(신은순),Nak-Hoon Son(손낙훈),Yangsoo Jang(장양수),Dong-Jik Shin(신동직) 한국생명과학회 2010 생명과학회지 Vol.20 No.5
혈관 수축력 및 혈압 조절에 관여하는 것으로 알려진 아라키돈산을 물질 대사시키는 CYP2C19 유전자는 최근 심혈관 질환 관련 연구의 새로운 유전자로 제시되고 있다. 본 연구에서는 CYP2C19 유전자의 2 종류 다형성(CYP2C19<SUP>*</SUP>2와 CYP2C19<SUP>*</SUP>3)과 고혈압 간의 연관성을 조사하고자 하였다. 연세대학교 의료원 심장혈관병원에서 수집한 1,241명(환자군: 537명, 대조군: 704명)을 대상으로 SNaPShot™ assay를 이용하여 유전자형을 결정하였다. 두 종류의 다형성 가운데 CYP2C19<SUP>*</SUP>3의 대립인자형 및 유전자형의 빈도 분포가 환자군과 대조군 간에 유의한 차이를 나타냈다(p=0.019, p=0.023). 다중 로지스틱 회귀분석 결과, dominant model에서, CYP2C19<SUP>*</SUP>3 A 대립인자형은 본태성 고혈압과 매우 유의한 연관성을 나타냈다(OR, 0.723, p=0.032). 또한 CYP2C19 G-A haplotype은 고혈압 발생 위험을 매우 유의하게 감소시키는 것으로 조사되었다(OR, 0.714, p=0.015). 따라서 본 연구 결과는 CYP2C19<SUP>*</SUP>3 다형성이 본태성 고혈압 발생에 대한 보호 효과작용에 관여할 것이라는 증거를 제시하고자 한다. In humans, CYP2C19, a member of the cytochrome P450 subfamily, metabolizes arachidonic acid to produce epoxyicosanoid acids, which are involved in vascular tone and regulation of blood pressure (BP). Recent findings suggest that CYP2C19 gene polymorphisms might be considered as a novel candidate gene for cardiovascular disease. We thus focused on the Korean population to explore the association of two polymorphisms (CYP2C19<SUP>*</SUP>2 and <SUP>*</SUP>3) in this gene and essential hypertension (EH). A total of 1,241 participants (537 hypertensive subjects and 704 healthy controls) were recruited from the Yonsei Cardiovascular Genome Center in Korea. The CYP2C19 polymorphisms were genotyped using the SNaPShot™ assay. The allele and genotype frequencies of CYP2C19<SUP>*</SUP>3 showed significant difference between hypertensives and normotensives (P=0.019 and P=0.023, respectively). Logistic regression analysis indicated that the CYP2C19<SUP>*</SUP>3 A allele carriers were significantly associated with EH (OR, 0.723; 95% CI, 0.538-0.972, P=0.032) under a dominant model. In addition, CYP2C19 G-A haplotype (2C19<SUP>*</SUP>2 G-<SUP>*</SUP>3 A combination) was found to significantly reduce EH risk (OR, 0.714, P=0.015). We believe this provides evidence that CYP2C19<SUP>*</SUP>3 polymorphism may contribute to a protective effect in the development of EH.
한국인 집단에서 Y 염색체상의 Microsatellite DYS19 좌위에 관한 PCR 다형 현상
김욱,신동직 한국유전학회 1998 Genes & Genomics Vol.20 No.1
The Y-linked tetranucleotide microsatellite locus DYS19 (Y-27H39) has been examined in samples from a total of 505 unrelated Korean males to study the population structure and genetic affinities between Koreans and different ethnic groups. All five common alleles at the DYS19 locus were identified in this study. The C allele is the most frequent (220/505), followed by the D (134/505), B (86/505), E (44/505) and A (21/505) allele and the DYS19 allelic diversity was estimated as 0. 703 in the Korean population. This predominance of the C allele is similar to the previous reports from other surveys of Asian, Australian and African population. On the basis of results for the allele frequency of the DYS19, Japanese show a close genetic relationship with Koreans rather than with other ethnic groups. This result could reflect an evidence for the gene flow and the large infusion of genes with the Yayoi migration from Korea to Japan.
한국인 집단에서 Y 염색체 연관 유전자 DXYS5Y 와 SRY465 좌위 사이의 연관 불평형
김욱,신동직,오혜진 한국유전학회 2000 Genes & Genomics Vol.22 No.1
We have analyzed variations of two Y-linked biallelic markers of DXYS5Y and SRY465 in 527 unrelated males in the Korean population. The frequencies of the DXYS5Y-Y1 and Y2 alleles were found to be 93.9% and 6.1%, respectively. The frequency of the SRY465-T allele, which resulted from a C-to-T transition mutation at nucleotide position 465 of the sex determining region Y (SRY) gene, was 29.2%. We found three unique haplotypes constructed from these two biallelic markers in our Korean samples. The haplotype Y1/C (70.8%) was present at the highest frequency, followed by haplotype Y1/T (23.1%), and Y2/T (6.1%) in this population. An obvious linkage disequilibrium was identified between the DXYS5Y and SRY465: the Y2 allele is completely associated with the T allele. It is implied that the chromosomes carrying the haplotype Y2/T derived from the haplotype Y1/T are direct descendants of the haplotype Y1/T. Based on the earlier reports, the Y2 chromosomes were found only in limited populations of East Asia. Therefore, the Y-haplotype analyses with respect to the DXYS5Y and SRY465 combination from diverse regions in Asia could be useful for studies of genetic relationship between Koreans and other East Asians.
PCR 에 의한 Drosophila melanogaster 한국집단내의 P Elements 분리 및 분석
김욱,김정수,신동직 한국유전학회 1995 Genes & Genomics Vol.17 No.2
We have isolated individual P elements from wild-type Q and M' strains in a Korean population (Cheonan) of Drosophila melanogaster by using PCR with inverted repeat primers. Four of the P elements in PCR product were found to be 2.9kb, 1.15kb, 0.55kb and 0.45kb elements. On the basis of restriction enzyme digest (AvaII/PstI) for the PCR product, 2.9kb and 1.15kb elements were comfirmed as a complete P element and KP element, respectively. Genomic Southern blot analysis on Q and M' strains were also performed with AvaII restriction enzyme. The results of Southern blot analysis revealed that all of these strains appeared to have a small copy numbers of 2.9kb complete P element and high copy numbers of 1.15kb KP element. It might be explained that the reason of the nearly inactive or null for the P factor activity in Korean population of D. melanogaster is probably due to the presence of the highest copy numbers of KP elements which P elements mediated hybrid dysgenesis is suppressed.