• 생물정신의학
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• 제4권2호
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• pp.234-236
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• 1997

Though initial report from Japan showed positive association of schizophrenia with dinucleotide repeat polymorphism in the NT-3 gene, subsequent studies showed mixed results. Therefore we conducted a replication study with Korean schizophrenics and matched controls who share similar ethnic background with Japanese population. The frequency of allele of dinucleotide repeat at 147 base pairs in the NT-3 gene was slightly increased, however, failed to reach statistical significance(${\chi}^2$=1.884, df=1, p<0.170) between the two groups. These findings do not support an association of NT-3 gene polymorphism with schizophrenia in Korean sample.

• 한국동물학회:학술대회논문집
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• 한국동물학회 2000년도 한국생물과학협회 학술발표대회
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• pp.264.2-264
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• 2000

No Abstract, See Full Text

• 한국동물학회:학술대회논문집
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• 한국동물학회 1997년도 한국생물과학협회 학술발표대회
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• pp.304.1-304
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• 1997

No Abstract, See Full Text

• The Korean Journal of Physiology and Pharmacology
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• 제3권5호
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• pp.501-505
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• 1999

Tryptophan hydroxylase (TPH), the rate-limiting enzyme in serotonin biosynthesis, is primarily expressed in serotonergic neurons of the raphe nuclei. Simple tandem repeat polymorphisms, typically one to four nucleotides long, are tandemly repeated several times and often characterized by many alleles. To identify the presence of polymorphic repeats, we sequenced the 5'-upstream region of the mouse TPH gene. For the detection of any allelic variants, polymerase chain reaction, nonisotopic single-strand conformation polymophism, and DNA sequencing analyses of the tandem repeat sequences were performed using genomic DNA extracted from 60 ICR mice. Two dinucleotide repeats, $5'-(AC/TG)_{22}-3'$ and $5'-(GT/CA)_{17}3',$ were identified at approximately - 5.7 kb and - 3.4 kb upstream from the transcriptional initiation site of the mouse TPH gene, respectively. Minor allelic variants, $5'-(AC/TG)_{21}-3'$ and $5'-(GT/CA)_{18}-3',$ were observed in heterozygous pairs from 3 of 60 and 1 of 60 ICR mice, respectively. The identification of these microsatellites in the mouse TPH promoter raises the possibility that identical and/or other polymorphic sequences might exist in the upstream region of the human TPH gene.

• 생물정신의학
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• 제3권2호
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• pp.162-169
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• 1996

An association study with korean schizophrenic patients(N=75) and normal controls(N=87) was performed to find the relationship between D6S274 polymorphism and schizophrenia using polymerase chain reaction. Nine different alleles of a dinucleotide polymorphism on D6S273 locus were observed in both group. When we compared the frequencies of alleles between schizophrenics and normal controls, there was no significant difference between two groups. To increase homogeneity of schizophrenic group, we divided schizophrenic group by clinical phenotypes such as DSM-IV diagnostic subtype, family history, negative and positive symptoms(PANSS), soft neurologic signs(NES-K). Then we compared the frequencies of alleles among subgroups of clinical phenotypes. there was only significant difference between two subgroups on soft neurologic signs(p<0.05). Although our findings fail to provide on evidence of association between schizophrenia and D6S274 locus, follow-up investigation of this locus may be needed in homogeneous subtypes of schizophrenia and schizophrenic pedigrees.

• 원예과학기술지
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• 제31권6호
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• pp.772-781
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• 2013

본 연구의 목적은 상추(Lactuca sativa)의 expressed sequence tag(EST)로부터 simple sequence repeat(SSR) 마커를 개발하고, 개발된 EST-SSR 마커를 이용하여 상추의 3가지 야생종의 유전자원 9점과 61개의 유통품종을 식별하는 것이다. NCBI 데이터베이스로부터 총 81,330개의 상추 EST를 대상으로 SSR을 탐색하였고, 총 4,229개의 SSR을 발견하였다. SSR의 반복 motif 중 trinucleotide(59.12%, 2,500개)가 가장 많았고, 그 다음으로 dinucleotide(29.70%, 1,256개), hexanucleotide(6.62%, 280개) 순의 분포를 나타내었다. EST로부터 총 474개의 EST-SSR primers를 개발하였고, 이 중 267개의 primer를 9점의 유전자원과 61품종에 대한 유전적 다양성 평가에 활용하였다. 267개의 마커 중 47개의 EST-SSR 마커가 7개 품종 내에서 다형성을 보였으며, 이 중 다형성 정도와 반복 재현성 및 밴드의 선명성을 고려하여 26개의 EST-SSR 마커를 선발하였다. 최종 선발된 26개의 SSR 마커를 이용하여 70개 공시재료를 분석한 결과 대립유전자 수는 총 127개였으며, 최소 2개에서 9개의 분포를 나타내었으며 마커당 평균 대립유전자 수는 4.88개를 나타내었다. PIC평균값은 0.542로 나타났으며, 0.269-0.768의 범위를 나타내었다. 70개 공시재료의 유전적 거리는 0.05-0.94로 나타났으며, 유사도 지수 0.34를 기준으로 할 때 7개의 주요 그룹으로 나누어졌다. 26개의 EST-SSR 마커를 이용한 유전적 다양성 분석 결과 9점의 유전자원과 61개의 유통품종이 마커의 유전자형에 의해 모두 식별이 되었다. 본 연구를 통해 신규 개발된 EST-SSR 마커는 상추의 품종식별과 구별성, 균일성, 안정성 검정에 유용하게 활용될 수 있을 것으로 사료된다.

• Asian-Australasian Journal of Animal Sciences
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• 제17권10호
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• pp.1329-1333
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• 2004

To isolate the microsatellites from the chromosomal DNA of the Korean cattle (Hanwoo) and to use those for the genetic selection, four bacteriophage genomic libraries containing the chromosomal DNA of six Hanwoo steers showing the differences in meat quality and quantity were used. Screening of the genomic libraries using $^{32}P-radiolabeled 5'-({CA})_{12}-3$nucleotide as a probe, resulted in isolation of about 3,000 positive candidate bacteriophage clones that contain $(CA)_n$-type dinucleotide microsatellites. After confirming the presence of microsatellite in each positive candidate clone by Southern blot analysis, the DNA fragments that include microsatellite and flanking sequences possessing less than 2 kb in size, were subcloned into plasmid vector. Results from the analysis of microsatellite length polymorphism, using twenty-two PCR primers designed from flanking region of each microsatellite DNA, demonstrated that 208 and 210 alleles of HW-YU-MS#3 were closely related to the economic traits such as marbling score, daily gain, backfat thickness and M. longissimus dorsi area in Hanwoo. Interestingly, HW-YU-MS#3 microsatellite was localized in bovine chromosome 17 on which QTLs related to regulation of the body fat content and muscle ypertrophy locus are previously known to exist. Taken together, the results from the present study suggest the possible use of the two alleles as a DNA marker related to economic trait to select the Hanwoo in the future.

• Journal of Gastric Cancer
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• 제10권3호
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• pp.91-98
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• 2010

Purpose: Silent mating-type information regulation 2 homologue 1 (SIRT1) is a nicotinamide adenine dinucleotide-dependent deacetylase. SIRT1 plays an important role in the regulation of cell death/survival and stress response in mammals. The aim of this study was to investigate whether the SIRT1 gene is involved in the development or progression of gastric cancers. Materials and Methods: SIRT1 and p53 genes in 86 gastric cancers were examined for genetic alterations by PCR-single strand conformation polymorphism sequencing, as well as SIRT1 protein expression in 170 gastric cancers by immunohistochemistry. Results: In the genetic analysis, we found SIRT1 and p53 mutations in two and 12 cases, respectively. Two missense mutations, c.599 C>T (T200I) and c.1258 G>A (E420K), were detected in the SIRT1 gene coding region. The SIRT1 and p53 mutation were found in mutually exclusive gastric cancers. The immunohistochemistry revealed that SIRT1 overexpression was found in 95 (55.9%) of 170 gastric cancers. Altered SIRT1 expression was not statistically associated with clinicopathological parameters, including tumor differentiation, location, lymph node metastasis, or p53 expression. Two cases with an SIRT1 mutation showed increased SIRT1 expression. Conclusions: These results suggest that genetic alterations and overexpression of the SIRT1 gene may contribute to gastric cancer development.

• Tuberculosis and Respiratory Diseases
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• 제58권4호
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• pp.367-374
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• 2005

연구배경 : 장기간 흡연을 하는 사람의 10-20%에서만 COPD가 발생한다는 사실은 COPD의 발생에 유전적 인자가 관여함을 시사한다. 최근 surfactant protein A가, COPD의 병인에 중요한 역할을 하는 것으로 알려진 MMP-9의 분비를 TLR2를 통해 증가시킨다고. 그러므로 COPD의 병인에 TLR2이 역할을 할 수 있을 것이라는 가정 아래, TLR2 유전자의 intron II에 존재하는 Guanine-Thymine (GT)의 반복으로 이루어진 유전자다형성과 한국인에서의 COPD의 발생과의 연관성을 규명하고자 하였다. 방 법 : 흡연력이 있는 남자 COPD 환자와 정상 폐기능을 보이는 남자 흡연자를 대상으로 하여, TLR2 유전자의 intron II의 GT 반복횟수를 확인하였다. 그 GT 반복이 3상성의 분포를 보여 이들을 다시 세 개의 맞섬 유전자 아형으로 분류하여 분석하였다. (12-16회 GT 반복: 짧은 아형; 17-22회 반복: 중간 아형; 23-27회 반복: 긴 아형) 결 과 : 각각의 맞섬유전자 아형의 분포는 125명의 COPD군과 144명의 대조군 사이에 유의한 차이는 없었다(P=0.75). 또한 각각의 맞섬유전자 아형의 유무에 따른 유전형의 빈도도 두 군간의 차이는 관찰할 수 없었다. 결 론 : TLR2 유전자의 intron II에 존재하는 GT 반복으로 이루어진 유전자다형성은 한국인에서 COPD의 발생과 연관되어 있지 않다.