• 한국생물공학회:학술대회논문집
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• 한국생물공학회 2000년도 춘계학술발표대회
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• pp.592-595
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• 2000

In human chromosome, a short sequence of DNA has been repeated a number of times. These repeats are called variable number of tandem repeat(VNTR) or short tandem repeat(STR) which has short repeat core. VNTR and STR are used in the field of forensic science, evolution, and anthropology. In this work, we examined allele frequencies of 3 VNTR(YNZ22, NeuR, D21S11) and one STR(Humth01) in a Korean population sample by polymerase chain reaction(PCR) followed by high-resolution polyacrylamide gelelectrophoresis(PAGE) with silver staining. Subsequently, the polymorphism information content(PIC) was calculated : the highest PIC was observed for the NeuR locus(0.95680) and lowest for the Humth01 locus(0.75809).

• Biotechnology and Bioprocess Engineering:BBE
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• 제5권3호
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• pp.169-173
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• 2000

On human chromoscomes, a short sequence of DNA is known to repeat a number of times. These are called variable number of tandem repeat (VNTR) or short tandem respeat (STR) which has a short core. VNTR and STR are used in the filed of forensic science, evolution, and anthropology. In this work, we examined allele frequencies of one VNTR (YNZ22) and three STRs (NeuR, D21S11, Humth01) in a korean population sample by polymerase chain reaction (RCP) followed by high-resolution polyacrylamide gel electro-phoresis (PAGE) with silver stain. Subsequently, the polymorphism information content (PIC) was calculated : the hifhest PIC was observed in the NeuR locus (0.95680) and lowest in the Humth01 locus (0.75809).

• 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.

• Tuberculosis and Respiratory Diseases
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• 제76권2호
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• pp.59-65
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• 2014

Background: Variable-number tandem repeat (VNTR) typing is a promising method to discriminate the Mycobacterium tuberculosis isolates in molecular epidemiology. The purpose of this study is to determine the optimal VNTR combinations for discriminating isolated M. tuberculosis strains in Korea. Methods: A total of 317 clinical isolates collected throughout Korea were genotyped by using the IS6110 restriction fragment length polymorphism (RFLP), and then analysed for the number of VNTR copies from 32 VNTR loci. Results: The results of discriminatory power according to diverse combinations were as follows: 25 clusters in 83 strains were yielded from the internationally standardized 15 VNTR loci (Hunter-Gaston discriminatory index [HGDI], 0.9958), 25 clusters in 65 strains by using IS6110 RFLP (HGDI, 0.9977), 14 clusters in 32 strains in 12 hyper-variable VNTR loci (HGDI, 0.9995), 6 clusters in 13 strains in 32 VNTR loci (HDGI, 0.9998), and 7 clusters in 14 strains of both the 12 hyper-variable VNTR and IS6110 RFLP (HDGI, 0.9999). Conclusion: The combination of 12 hyper-variable VNTR typing can be an effective tool for genotyping Korean M. tuberculosis isolates where the Beijing strains are predominant.

• 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.

• 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.

• 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.

• 수면정신생리
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• 제15권1호
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• pp.39-43
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• 2008

목 적 : 하지불안증후군(restless legs syndrome ; RLS)의 병인은 아직 불명확하지만, 도파민 결핍과 유전적 소인이 흔히 제기된다. RLS는 도파민수용체를 차단하는 항정신 병약물을 복용하는 환자들에서 더 흔히 발생하는 것으로 보인다. 본 연구에서는 정신분열병환자에서 항정신병약물에 의해 유발된 RLS와 도파민 수송체(dopamine transporter gene ; DAT1) 유전자가 연관이 있는지 알아보고자 하였다. 방 법: International Restless Legs Syndrome Study Group의 진단기준으로 190명의 한국인 정신분열병 환자들을 대상으로 RLS에 대해서 평가하였다. 유전자형분석은 중합효소연쇄반응기법을 사용하여 DAT1 유전자의 40 염기쌍(basepair) variable number of tandem repeat(VNTR)에 대해서 시행되었다. 결 과 : 우리는 44명의 RLS군과 146명의 비RLS군으로 환자들을 분류하였다. 두 군간의 유전자형과 대립유전자 빈도의 차이를 분석한 결과 유의한 차이를 발견할 수 없었다. 결 론 : 이 연구는 DAT1 유전자의 40 bp VNTR 다형성이 항정신병약물로 유발된 RLS와 연관이 없다는 것을 시사한다. 이 결과를 확증하기 위해서는 향후 보다 대규모의 연합연구가 필요할 것이다.

• BMB Reports
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• 제28권4호
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• pp.359-362
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• 1995

The highly polymorphic variable number of tandem repeat (VNTR) loci in the human genome are informative markers for the genetic characterization of individuals in the paternity test and forensic science as well as for the study of human disease. In this study, VNTR loci D1S80 and D2S123 have been amplified by PCR and the amplified length polymorphic alleles were detected with a discontinuous vertical PAGE system and silver staining. For explicit DNA typing, PCR optimization, in which amplification efficiencies are similar over a wide range of allele sizes, non-specific amplifications are minimal, and new longer alleles have high amplification efficiency, has been performed by changing the PCR reaction buffer composition and thermal cycling conditions. It turned out that adding an appropriate amount of Tween 20 and NP40 to the PCR reaction buffer and raising the annealing temperature to $68^{\circ}C$ in thermal cycling made it possible for optimal VNTR loci amplification. A modified PAGE system for VNTR separation was established. Under these conditions, new longer alleles in the 01580 locus were discovered and 025123 pattern changes in colorectal tumors were observed. These technical tips are valuable for detecting various amplified fragment length polymorphisms.

• Journal of Microbiology and Biotechnology
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• 제28권2호
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• pp.338-346
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• 2018

Two molecular epidemiologic methods, IS6110 restriction fragment length polymorphism (IS6110-RFLP) and 24-locus mycobacterial interspersed repetitive unit-variable-number tandem repeat (MIRU-VNTR), are used worldwide in studies of Mycobacterium tuberculosis (MTB). Conversely, because of its poor resolution, pulsed-field gel electrophoresis (PFGE) is not widely used for MTB. In this study, we improved the 24-locus MIRU-VNTR and PFGE protocols and compared the effectiveness of these approaches for the molecular typing of MTB using 75 clinical isolates obtained from a cohort investigation of high-risk populations infected with MTB. The 24-locus MIRU-VNTR method demonstrated superior discriminatory ability, followed by PFGE and IS6110-RFLP. Next, we analyzed six isolates with clear epidemiologic connections; that is, isolates from patients who attended the same school. IS6110-RFLP and PFGE identified these samples as the same type. By contrast, according to MIRU-VNTR, two isolates differed from four other isolates at one locus each; one isolate was identified as Mtub29 and the other as QUB-26. In summary, the 24-locus MIRU-VNTR assay was the most useful molecular typing method among the three methods investigated due to its discriminatory power, short time required, and availability as an epidemiologic investigation tool. PFGE was the second-best method. Compared with the other loci assessed in the 24-locus MIRU-VNTR assay, the Mtub29 and QUB-26 loci appeared to exhibit greater variability during transmission.