• Journal of Genetic Medicine
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• 제12권2호
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• pp.118-122
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• 2015

Noninvasive prenatal test (NIPT) is a novel screening method for the diagnosis of fetal chromosomal aneuploidies. NIPT is based on technology that detects cell-free fetal DNA in maternal plasma and analyzes it with massively parallel sequencing technology to determine whether the fetus is at risk of trisomy 21, trisomy 18, trisomy 13 or sex chromosome abnormalities (SCAs). NIPT has been reported to have sensitivity of 99% and a false positive rate of less than 1% for detecting trisomy 21 and trisomy 18. Although extension of the application of NIPT to other SCAs has been attempted, there are concerns in extending NIPT to SCAs because of maternal or fetal mosaicism, undetected maternal SCAs, and multiple pregnancies. Recently, we assessed a pregnancy with the rare Turner syndrome mosaicism 45, X/47, XXX, which was reported as 45, X with NIPT. We present the case here and briefly review the current literatures on NIPT in testing for fetal monosomy X. To the best of our knowledge, this is the first report of the 45, X/47, XXX mosaicism in Korea to be reported as 45, X by NIPT with whole genome sequencing. This case report will provide valuable information for counseling women who want to undergo NIPT.

• Journal of Microbiology and Biotechnology
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• 제9권6호
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• pp.744-750
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• 1999

Forty alcohol yeast strains were isolated from the main mashes (10 strains from each mash) for brewing of 4 different kinds of Korean traditional liquor (3 different types of Yakju and 1 Takju). Thirty-eight out of 40 strains were identified to be the same strain, Saccharomyces boulardii, by the Automated Bacteria, Yeast, and Fungi Identification System (Biolog Co., U.S.A.) based on the metabolic fingerprints. One strain that showed the highest ethanol production among the 38 strains in YPD medium, designated SHY 111, was selected and used for differentiating from other yeast type strains using the polymerase chain reaction (PCR). Amplified DNA, from transcribed internal spacers of SHY 111 chromosomal DNA, was found to be the same in both size and sequence as those of S. cerevisiae KCCM 11215 (formerly S. coreanus) and S. boulardii along with that of S. cerevisiae AB 972, which was used as a type strain for the yeast genome project. However, when PCR was carried out with the intron splice site primer, it resulted in the amplification of the SHY 111-specific DNA fragment which was about 200 bp in size. When PCR was carried out using the primer to test diversity of 40 isolated yeast strains, it was found that the PCR patterns were similar to each other except for the 200 bp bands derived from all the 10 strains from one Yakju, and 2 strains from another Yakju. These results suggest the strain identified as S. boulardii by the Automated Identification System to be a dominant strain for the fermentation of Korean traditional liquors.

• KSBB Journal
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• 제24권3호
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• pp.279-286
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• 2009

방선균은 다양한 생리활성 물질을 이차대사산물로 생산하는 산업적으로 매우 유용한 미생물이다. 이에 따라 많은 연구진들이 방선균에 대한 분자생물학적 연구와 산업적 이용에 대한 연구들을 수행하고 있다. 방선균 중에서도 S. avermitilis는 강력한 구충효과가 있는 avermectin을 생산하지만, 또한 포유동물 세포의 미토콘드리아에서 산화적 인산화반응을 억제하는 oligomycin도 함께 생성된다. 따라서 S. avermitilis에서 oligomycin의 생성을 제거시키기 위하여 oligomycin synthetase gene을 disruption 시키기 위한 연구를 수행하였다. 이를 위하여 S. avermitilis로부터 cloning 한 oligomycin synthetase gene (olmA5)의 중앙부분에 apramycin resistance gene을 끼워 넣어 integration vector로 구축한 후에 S. avermitilis의 chromosomal DNA와의 homologous recombination에 의하여 olmA5 gene의 disruption을 유도하였다. Disruption mutants (olmA5::apra)는 PCR을 통해 olmA5 gene의 위치에 apramycin resistance gene이 존재하는 것으로 확인하였고, 또한 HPLC 분석을 통해 oligomycin 생합성이 완전히 제거된 것임을 확인하였다. 그러나 disruption mutant (olmA5::apra)를 이용하여 avermectin 만을 생산할 수 있었으나, avermectin의 생산량에는 거의 변화가 없었다. 이러한 mutants는 산업적으로 avermectin을 생산하기 위한 균주 개량의 훌륭한 source가 될 수 있을 것이다.

• 한국육종학회지
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• 제40권1호
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• pp.15-21
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• 2008

It was previously pointed out that mutation is the ultimate source of variation. Adequate variation is needed for plant breeding if there is a limitation in natural genetic resources. When the ionizing radiation has been known to cause chromosomal and genomic alternations, it is widely used for inducing mutagenesis. The electron beam as an ionizing radiation is the principal physical mutagens that induces mutation and effectively used in plant breeding. Since dose-response relationships of electron beam in plant species are rarely known, we investigated the seed germination rate and early seedling growth of irradiated seeds of creeping bentgrass (Agrostis palustris Huds., cv Penn-A1) with various electron beam irradiating conditions (1, 1.3, 2 MeV at both 0.03 mA and 0.06 mA with dose of 100 Gy (Gray) and 0.03, 1, 1.3, 2 MeV at 0.03 mA with dose of 200 Gy, respectively) using electron accelerator at Korea Atomic Energy Research Institute. The growth parameters in terms of shoot length, primary root length, and secondary root length showed similar response between 0.06 / 1 (mA / MeV) at 100 Gy and 0.03 / 0.3 (mA / MeV) at 200 Gy. Bentgrass seed germination was mainly affected by the intensity of irradiated dose (Gray). Germination rate was lowered as the irradiated dose increased. On the other hand, early seedling growth was mainly governed not by the dose of radiation but by voltage.

• Asian Pacific Journal of Cancer Prevention
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• 제16권16호
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• pp.7129-7138
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• 2015

Background: The polycystic ovary syndrome (PCOS), characterized by hyperandrogenism and chronic anovulation, is a common endocrine disorder in women. PCOS, which is associated with polycystic ovaries, hirsutism, obesity and insulin resistance, is a leading cause of female infertility. In this condition there is an imbalance in female sex hormones. All the sequelae symptoms of PCOS gradually lead to cancer in the course of time. It is heterogeneous disorder of unknown etiology so it is essential to find the exact cause. Materials and Methods: In this study both invasive and non-invasive techniques were employed to establish the etiology. Diagnosis was based on Rotterdam criteria (hyperandrogenism, ovulatory dysfunction, PCOM) and multiparameters using buccal samples and dermatoglypic analysis and cytogenetic study for 10 cases and four age and sex matched controls. Results: In clinical analysis we have observed the mean value of total testosterone level was 23.6nmol/L, total hirsutism score was from 12-24, facial acne was found in in 70% patients with 7-12 subcapsular follicular cysts, each measuring 2-8 mm in diameter. In dermatoglypic analysis we observed increases in mean value ($45.9^{\circ}$) of ATD angle when compared with control group and also found increased frequency (38%) of Ulnar loops on both fingers (UU), (18%) whorls on the right finger and Ulnar loop on left finger (WU) and (16%) arches on right and left fingers (AA) were observed in PCOS patients when compared with control subjects. Features which could be applied as markers for PCOS patients are the presence of Ulnar loops in middle and little fingers of right and left hand. The buccal micronucleus cytome assay in exfoliated buccal cells, we found decrease in frequency of micronuclei and significant increases in frequency of karyolysed nuclei in polycystic ovarian syndrome patients. Chromosome aberration analysis revealed a significant increase in frequency of chromosome aberrations (CAs) in PCOS patients when compared with controls. Conclusions: From this present work it can be concluded that non-invasive technique like dermatoglypics analysis and buccal micronucleus cytome assays with exfoliated buccal cell can also be effective biomarkers for PCOS, along with increased CAs in lymphocytes as a sign of genetic instability. There is a hypothesis that micronuclei and chromosomal aberrations could have a predictive value for cancer. From this present work it can be concluded to some extent that non-invasive technique like dermatoglypics and buccal cell analysis can also be effective for diagnosis.

• 한국미생물·생명공학회지
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• 제17권5호
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• pp.436-439
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• 1989

고온, 호알칼리성 Bacillus속 K-17 균주에서 $\beta$-xylosidase 유전자를 pBR322를 벡터로 이용하여 클로닝시켰다. p-Nitrophenyl-$\beta$-xylopyranoside를 함유하는 LB 한천배지에서 노란색을 형성하는 대장균 형질전환주에서 재조합 플라스미드 pAX278을 분리하였으며, 본 pAX278은 pBR322와 고온, 호알칼리성 Bacillus K-17 균주 염색체 DNA의 5.0 kb HindIII절편으로 구성되어 있었다. Biotin으로 로식된 pAX278을 probe로 하여 상동성 시험을 하여 본 결과, pAX278에 존재하는 5.0 kb HindIII 절편은 Bacillus K-17 균주의 염색체 DNA HindIII 절편 중에서 5.0 kb 분만 아니라 0.9 kb 절편과도 상동성이 있었다. pAX278의 5.0 kb 절편을 pGR71에 연결시켜 B. subtilis에서도 발현시켰다. pAX278을 가지는 E. coli 균주가 생성하는 $\beta$-xylosidase는 균체외에 존재하였으며 그 효소학적 성질은 Bacillus속 K-17의 $\beta$-xylosidase와 동일하였다.

• 한국작물학회:학술대회논문집
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• 한국작물학회 2017년도 9th Asian Crop Science Association conference
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• pp.133-133
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• 2017

Lodging is one of the important constraints in rice production. The lodging destroys the canopy structure, and sharply reduces the capacity of photosynthetic rate and dry matter production. In cereal crops, stem lodging can be classified into two types: stem breaking type and stem bending type. To improve stem lodging resistance, it is important to reveal strong culm traits of superior lodging resistant varieties. There are large varietal differences in parameters associated with the bending moment at breaking (M) and flexural rigidity (FR). The indica variety Takanari possesses large M due to its large section modulus (SM) despite of its small bending stress (BS), while Takanari also has large FR due to its large secondary moment of inertia (SMI) and Young's modulus (YM). To identify quantitative trait loci (QTLs) and the corresponding genes associated with the parameters for M ($=SM{\times}BS$) and FR ($=SM{\times}YM$) should enable to develop lodging resistant varieties, efficiently. In order to identify QTLs for cell wall materials such as cellulose, hemicellulose and lignin associated with BS and YM, a set of Chromosome Segment of Substitution Lines (CSSLs) consisted of 37 lines with chromosome segments of Koshihikari in the genetic background of Takanari were used. Takanari had large M and small BS as compared with Koshihikari. The QTLs for BS were estimated on chromosomes 3, 5, 6, 8, 9, 10, 11 and 12. Koshihikari alleles increased BS in these QTLs. Takanari had a large FR due to its large SMI and YM as compared with Koshihikari. The YM was increased by substitution of the Koshihikari chromosomal segments on chromosomes 2, 10 and 11. Other QTLs estimated on chromosomes 7 and 12 that Koshihikari alleles contributed to the decrease of YM. For lignin, only one major QTL for lignin density was detected on chromosome 11. Hollocellulose densities were increased by the substitution of Koshihikari segments on chromosomes 5 and 11. On the other hand, these were decreased on chromosomes 1 and 3 by substitution of Koshihikari segments. QTLs for cellulose density were estimated on chromosomes 1, 3 and 5 by substitution of Koshihikari segments. For hemicellulose, QTL on chromosome 3 showed that hemicellulose density decreased by the substitution of Koshihikari segment. However, hemicellulose densities on chromosomes 5, 8 and 11 showed the opposite effects. The QTLs for hemicellulose, cellulose, and hollocelulose densities identified on chromosome 5 overlapped with that for bending stress, indicating the positive effect of Koshihikari segment on increasing bending stress. These results suggest that some QTLs for the densities of cell wall materials contribute to increasing bending stress and Young's modulus, and could be utilized to improve the lodging resistance for both types of breaking and bending in rice varieties.

• 한국식품저장유통학회지
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• 제24권1호
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• pp.100-106
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• 2017

본 연구는 환자용 균형영양식으로 제조하여 감마선 조사처리를 통해 살균한 모델식품의 유전독성 여부를 평가하기 위해 수행되었다. 4 kGy 이상의 흡수선량으로 감마선 조사 처리한 시료에서 생균수가 1 log CFU/g의 검출한계 이하로 나타났기 때문에 살균을 위한 조사처리 선량으로 4 kGy를 설정하였다. 복귀돌연변이 유발성 평가 결과, 모델식품의 열수 추출물과 메탄올 추출물은 처리한 용량과 대사활성계 존재 여부와는 상관없이 음성대조구(멸균증류수 또는 DMSO)와 유사한 수준의 복귀돌연변이 발생빈도를 나타내었다. 염색체 이상 시험에서 실험군들의 정상 염색체의 수는 음성대조군과 유사하였으며, 용량 및 대사활성계에 대한 비의존성을 나타내어 염색체 이상 유발능은 없는 것으로 판단하였다. 또한 최고 2,000 mg/kg 체중의 농도로 모델식품을 경구 투여한 마우스의 골수세포에서도 소핵 다염성적 혈구의 발생빈도는 음성대조군에 비해 유의적인 차이를 나타내지 않았다. 따라서 4 kGy의 흡수선량으로 감마선 조사처리한 환자용 균형영양식은 본 실험 조건하에서 유전독성을 나타내지 않는 것으로 사료된다.

• Journal of Plant Biotechnology
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• 제41권1호
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• pp.19-25
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• 2014

도라지는 초롱꽃과에 속하는 채소용 또는 약용으로 그 생산량이 해마다 증가하는 추세에 있다. 특히 국내의 경남지역에서는 토종도라지의 보존과 육성을 위한 정책을 추진하고 있고 도라지의 단가도 급등함에 따라 그 재배면적이 크게 증가하였다. 본 연구에서는 토종 도라지의 순계를 보존하기 위한 조직배양 기술의 확립과 함께 분자생물학적 기술을 이용한 토종 도라지의 판별 기술을 개발하기 위한 기초연구를 수행하였다. 먼저 경남지역과 충남아산시 등의 야산에서 채종하여 수 십년간 자가 채종하여 재배하여온 농가에서 수집한 종자를 중심으로 5종의 primer를 이용하여 RAPD분석을 수행한 결과 총 48개의 밴드를 생산하였으며, 이중 21개 밴드는 다형성을 보이는 밴드로 40.3%의 다형성을 나타내었다. 특히 primer HD3는 총 13개의 밴드 중 10개가 계통간 다형성을 보여서 76.9%의 높은 다형성빈도를 보였다. 향후 핵 DNA 보다는 핵외 DNA를 이용한 SNP 마커의 확보 등 보다 진보된 기술을 이용한 보완연구가 수행되어야 할 것으로 사료되었다.

• Molecules and Cells
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• 제24권3호
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• pp.394-408
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• 2007

Several genes/QTLs governing resistance/tolerance to abiotic and biotic stresses have been reported and mapped in rice. A QTL for submergence tolerance was found to be co-located with a major QTL for broad-spectrum bacterial leaf blight (bs-blb) resistance on the long arm of chromosome 5 in indica cultivars FR13A and IET8585. Using the Nipponbare (japonica) and 93-11 (indica) genome sequences, we identified, in silico, candidate genes in the chromosomal region [Kottapalli et al. (2006)]. Transcriptional profiling of FR13A and IET8585 using a rice 22K oligo array validated the above findings. Based on in silico analysis and arraying we observed that both cultivars respond to the above stresses through a common signaling system involving protein kinases, adenosine mono phosphate kinase, leucine rich repeat, PDZ/DHR/GLGF, and response regulator receiver protein. The combined approaches suggest that transcription factor EREBP on long arm of chromosome 5 regulates both submergence tolerance and blb resistance. Pyruvate decarboxylase and alcohol dehydrogenase, co-located in the same region, are candidate downstream genes for submergence tolerance at the seedling stage, and t-snare for bs-blb resistance. We also detected up-regulation of novel defense/stress-related genes including those encoding fumaryl aceto acetate (FAA) hydrolase, scramblase, and galactose oxidase, in response to the imposed stresses.