• 대한화학회지
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• 제50권2호
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• pp.123-128
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• 2006

혈관염이 특징적인 질환으로 구강궤양, 음부궤양, 안구염증과 관절, 피부, 중추신경계, 위장관 등 여러 장기를 침범할 수 있는 만성 염증성 질환이다. 베체트병의 발병원인이나 기전에 대해 확실히 밝혀지지는 않았으나 유전적인 소인이 있는 사람에서 감염 등 환경적인 요인이 면역 반응에 이상을 일으켜 질병의 여러 증상이 발현된다. 주조직복합체 (major histocompatibility complex, MHC)와 non-MHC gene등 다양한 유전자들이 베체트병의 병인으로 관여한다. 이 연구에서는 IL-6의 유전적 다형성이 한국인 베체트병의 감수성에 관여하는지를 확인하였다. 유전자 다형성은 VNTR (variable number of tandem repeat), RFLP (restriction fragment length polymorphism), DHPLC (denaturing high performance liquid chromatography) 방법을 이용하여 확인하였다. 실험 결과, 베체트 환자와 대조군에서 IL-6prom의 유전적 다형성은 관련성이 없었지만 IL-6vntr에서는 유전형과 대립형질의 빈도가 다르게 나타났다. IL-6vntr*C 대립유전자가 한국인 베체트병과 연관성이 높게 나타났다. 이런 결과를 확인하기 위해 앞으로 여러 집단과 다른 유전자의 연구가 필요하다.

• 한국동물위생학회지
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• 제35권4호
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• pp.275-281
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• 2012

Canine brucellosis is the zoonosis in worldwide and Brucella (B.) canis is a facultative intracellular pathogen that has a very limited host. MLVA-16 (Multilocus VNTR analysis) is a efficient method for genotyping of Brucella species. Various methods have been established for genotyping of Brucella species, but most of analytical method is lack reproducibility and limited capability to differentiate them. B. canis isolates (n=73) from 7 farms in Gyeongbuk province in 2003~2010 were analyzed using 16 VNTR loci. Automatic electrophoresis system was utilized for more high throughput and rapid simple discrimination. Thirty two genotypes were identified from 73 B. canis isolates. MLVA could contribute to molecular typing for epidemiological evaluation of canine brucellosis.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제18권2호
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• pp.154-161
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• 2007

Objectives: The aim of the current study is to test for the association of DRD4 exon III VNTR polymorphism with attention-deficit hyperactivity disorder(ADHD) in Korean children population. Methods: 113 Korean children with ADHD, 102 parents, and 133 control subjects participated with the current study. The distribution of genotypes and alleles of DRD4 exon III VNTR in children with ADHD was compared with that in control subjects. In addition, 69 children with ADHD and their parents were analyzed using the transmission disequilibrium test(TDT). Results: We could not find any significant differences in the distribution of genotypes and alleles at DRD4 exon III VNTR polymorphism between children with ADHD and control subjects. In addition, there was no preferential transmission of long allele of DRD4 exon III VNTR polymorphism. Conclusion: These results suggest that DRD4 is not associated with ADHD in Korean children population.

• 생물정신의학
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• 제8권2호
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• pp.239-245
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• 2001

Objective : Dopamine transporter is member of family of Na/Cl dependent neurotransmitter transporter, 12 transmembrane domain, that has high substrate specificity, affinity. It is related with dopamine reuptake in presynaptic vesicle. DAT has a VNTR in its 3'-untranslated region(UTR). 3'-UTR VNTR polymorphism is related with modification of dopamine transmission. The association between with VNTR polymorphism and neuropsychiatric disorders such as alcohol dependence, and low activity ALDH has been studied, but their relationship is unclear. We study about association of 3'-UTR VNTR of DAT gene and G2319A and alcohol dependence. Method : Group of Korean subjects were studied with alcohol dependence(n=49 male) compared to mentally healthy controls(n=53 male). The peripheral blood sample was acquired, and Polymerase Chain Reaction(PCR) amplification, MspI procedure was done. Result : There was a significant difference between alcohol dependence group and normal control(genotype frequency p<0.05, allele frequency p<0.05) Allele A frequency and genotype(GG, GA) frequency was a significant difference between alcohol dependence group and normal control(p<0.05). Conclusion : Our study showed that genetic polymorphism of DAT1 G2319A had relation with alcohol dependence.

• Asian Pacific Journal of Cancer Prevention
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• 제16권6호
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• pp.2199-2202
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• 2015

The aim of the present study was to determine whether endothelial nitric oxide synthase (eNOS) gene polymorphisms play a role in development of bladder cancer in the Turkish population. The study was performed on 75 patients (64 men, 11 women) with bladder cancer and 143 healthy individuals (107 men, 36 women) with any kind of cancer history. Three eNOS gene polymorphisms (T-786C promoter region, G894T and intron 4 VNTR 4a/b) were determined with polymerase chain reaction and restriction fragment lenght polymorphism methods. In our study, GT and TT genotypes for eNOS G894T polymorphism were found to significantly vary among patients with bladder cancer and control group (OR: 0.185, CI: 0.078-0.439, p=0.0001 and OR: 0.324, CI: 0.106-0.990, p=0.026). Also, the frequency of the 894T allele was significantly higher in patients with bladder cancer (51%). No association was identified for eNOS T-786C and intron 4 VNTR 4a/b polymorphisms between patients with bladder cancer and control groups in our Turkish population.

• 한국동물위생학회지
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• 제34권3호
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• pp.227-234
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• 2011

Brucella (B.) abortus is a facultative intracellular pathogen that infects a wide variety of animal species and human. Brucellosis is the zoonosis and an extremely important disease around the world. Although the eight species can be differentiated by conventional phenotypic tests, these species display a high degree of DNA homology in DNA-DNA hybridization assay (>90%). Various methods have been established for genotyping of Brucella species, but most of analytical methods are lack reproducibility and limited capability to differentiate them. The attempt of this study was to evaluate multiple-locus VNTR analysis (MLVA) for use of epidemiological trace-back analysis in bovine brucellosis. Ninety-four B. abortus isolates from Gyeongbuk province during 2006~2010 were analyzed using 16 VNTR locus. High resolution automatic capillary electrophoresis system was used for more throughput, simpleer, faster, and better discriminable than conventional gel electrophoresis. As a result, 13 different genotypes were identified from 94 B. abortus isolates. MLVA could contribute to epidemiological trace-back analysis of bovine brucellosis.

• 수면정신생리
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• 제18권1호
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• pp.35-39
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• 2011

목 적: 일중선호도는 하루 중 어느 시간대에 각성도가 높고 활기찬 지에 대한 경향으로 아침형-저녁형이라고도 알려져있다. PER3 유전자는 일중선호도에 영향을 주는 것으로 알려져 왔다. 본 연구에서 우리는 젊고 건강한 피험자들에서 환경과 혼란요인들을 통제하고 PER3 유전자 다형성과 일중선호도간에 연관을 연구하였다. 방 법: 연구에 참여한 대상자는 299명의 의과대학생들(남자 299, 여자 191명)이며 평균연령은 22.9세였다. 일중선호도는 13개 문항의 Composite Scale for Morningness (CSM)로 측정하였다. PER3 VNTR(rs57875989)의 유전자형분석은 중합효소연쇄반응법을 사용하여 이루어졌다. 양측검정으로 유의수준은 p<0.05로 하였다. 결 과: 전체 대상자에 대한 CSM 점수는 31.90${\pm}$6.39 (평균${\pm}$표준편차)였다. 남녀간에 CSM 총점에 유의한 차이는 없었다. PER3 5R/5R에서 CSM 점수가 높은 경향을 보였으나, PER3 VNTR(rs57875989) 유전자형과 대립유전자에 따른 CSM 점수의 유의한 차이는 없었다. 결 론: 본 연구는 젊은 건강한 한국인에서 PER3 V- NTR과 일중선호도간의 연관을 입증하지 못했다. 향후 보다 대규모의 피험자들을 대상으로 PER3의 여러 유전자들에 대해 다형성과 일중선호도간의 연관에 대한 연구가 필요할 것으로 생각된다.

• 대한의생명과학회지
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• 제14권2호
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• pp.127-130
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• 2008

To investigate if there are tandem repeats in iNOS gene in Korean genome we applied PCR amplification followed by DNA sequencing. Tandem repeats we were looking at were (AAAT)n in the promoter region. Totally, 65 people were subjected for this experiment. Twenty of them were patients with metabolic disease. Only $(AAAT)_4$ was found in all of these Korean samples. This result was somewhat different trom the data for Caucasians and other Asian people. So, we assume this is specific VNTR (variable number of tandem repeat) in Korean which can be used for the purpose of diagnosis and for the differentiation of ethnic groups.

• Molecules and Cells
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• 제43권7호
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• pp.607-618
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• 2020

microRNAs (miRNAs) are non-coding RNA molecules involved in the regulation of gene expression. miRNAs inhibit gene expression by binding to the 3' untranslated region (UTR) of their target gene. miRNAs can originate from transposable elements (TEs), which comprise approximately half of the eukaryotic genome and one type of TE, called the long terminal repeat (LTR) is found in class of retrotransposons. Amongst the miRNAs derived from LTR, hsa-miR-3681 was chosen and analyzed using bioinformatics tools and experimental analysis. Studies on hsa-miR-3681 have been scarce and this study provides the relative expression analysis of hsa-miR-3681-5p from humans, chimpanzees, crab-eating monkeys, and mice. Luciferase assay for hsa-miR-3681-5p and its target gene SHISA7 supports our hypothesis that the number of miRNA binding sites affects target gene expression. Especially, the variable number tandem repeat (VNTR) and hsa-miR-3681-5p share the binding sites in the 3' UTR of SHISA7, which leads the enhancer function of hsamiR-3681-5p to inhibit the activity of VNTR. In conclusion, hsa-miR-3681-5p acts as a super-enhancer and the enhancer function of hsa-miR-3681-5p acts as a repressor of VNTR activity in the 3' UTR of SHISA7.

• 한국동물학회:학술대회논문집
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• 한국동물학회 1997년도 한국생물과학협회 학술발표대회
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• pp.293.1-293
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• 1997

No Abstract, See Full Text