• Proceedings of the Plant Resources Society of Korea Conference
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• 2018.10a
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• pp.66-66
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• 2018

국화과(Compositae) 다년생 초본인 산국속(Dendranthema)은 국내 약 13여종이 자생하는 것으로 알려져 있으며, 이 중 감국(D. indicum (L.) Des Moul.)과 산국(D. boreale (Makino) Ling ex Kitam.), 구절초(D. zawadskii var. latilobum (Maxim.) Kitam.)가 주로 차 또는 한약재 등의 원료로 이용되고 있다. 차로 이용되는 꽃은 산국이 감국에 비해 상대적으로 작아서 구분이 가능하지만 시중에는 건조된 형태로 가공 유통되므로 육안으로 구분이 쉽지 않고, 산국 유래 제품들은 국내에서 감국 또는 국화로 혼용해서 표기되어 유통되고 있어 그 기원을 명확히 정립할 필요가 있다. 이에 본 연구는 감국과 산국의 분자유전학적 판별을 위해 DNA 바코드 후보 유전자를 활용하여 염기서열분석으로 확보된 SNP 및 InDel 정보를 바탕으로 CAPS 마커를 개발하고자 수행되었다. 감국과 산국 모두 trnL-trnF intergenic spacer 구간에서 약 1kb의 PCR 산물이 확인되었고, 이들 염기서열에서 분석한 2 SNP 및 3 InDel을 대상으로 CAPS 마커 개발을 위한 제한효소 사이트를 탐색하였다. Gap을 포함한 774bp (감국/산국=A/G) 위치의 SNP에서 BstUI(GC^GC)처리로 CAPS 마커로 전환 가능함이 확인되었고, 이에 감국과 산국의 PCR 산물에 제한효소를 처리한 결과, 제한효소 인식 사이트가 존재하는 산국에서 두 개의 DNA 단편이 확인되었다. 위 결과는 다양한 형태로 가공 유통되는 감국과 산국의 판별을 위한 마커로 활용될 수 있으며, 본 연구에 활용된 기술은 추후 건강기능식품 개발을 위한 원료표준화 확립 연구에 유용할 것으로 판단된다.

• Horticultural Science & Technology
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• v.33 no.5
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• pp.722-729
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• 2015

Powdery mildew (PM) caused by Podosphaera aphanis is a major disease that can result in significant yield losses in strawberry (Fragaria ${\times}$ ananassa Duchesne). For preventing PM, pesticides are usually applied in strawberry. In this study, molecular markers were developed to increase breeding efficiency of PM-resistance cultivars by marker-assisted selection (MAS). An $F_2$ population derived from a cross between PM-resistance 'Seolhyang' and PM-susceptibility 'Akihime' was evaluated for disease resistance to PM and RAPD (random amplification of polymorphic DNA)-BSA (bulked segregant analysis). Among 200 RAPD primers tested, OPE10 primer amplified a 311bp-band present in with 331bp. Sequence alignment performed for searching polymorphisms and six single nucleotide polymorphism (SNP) were found in amplified regions. To develop polymorphic marker for distinguishing between resistant and susceptible, RAPD was converted to cleaved amplified polymorphic sequence (CAPS) marker. Among restriction enzymes associated with six SNPs, Eae I (Y/GGCCR) was successfully digested to 231bp in susceptible. The results suggest that the selected CAPS marker could be used for increasing efficiency of selecting powdery mildew resistant strawberry in breeding system.

• Korean Journal of Plant Resources
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• v.32 no.5
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• pp.519-542
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• 2019

Twenty soybean cultivars developed recently were assessed using 27 insertion and deletion (InDel) markers derived from dense variation blocks (dVBs) of soybean genome. The objective of this study is to identify the distinctness and genetic relationships among a total of 169 soybean accessions including new cultivars. The genetic homology between 149 accessions in the soybean barcode system and 20 new cultivars was 61.3% on average with the range from 25.9% to 96.3%, demonstrating the versatile application of these markers for cultivars identification. The phylogenic analysis revealed four subgroups related to their usage. The 80% of cultivars for vegetable and early maturity and the 65.9% of cultivars for bean sprouts were clustered in subgroup I-2 and II-2, respectively, indicating of the limited gene pools of their crossing parents in breeding. On the other hands, the cultivars for soy sauce and tofu with considerable gene flow by genome reshuffling were distributed evenly to several subgroups, I-1 (44.4%), I-2 (26.4%) and II-2 (23.6%). We believe that the 27 InDel markers specific to dVBs can be used not only for cultivar identification and genetic diversity, but also in breeding purposes such as introduction of genetic resources and selection of breeding lines with target traits.

• Asian Pacific Journal of Cancer Prevention
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• v.13 no.10
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• pp.5063-5067
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• 2012

New molecular markers of cancer had emerged with novel applications in cancer prevention and therapeutics, including for breast cancer of unknown causes, which has a high impact on the health of women worldwide. The purpose of this research was to detemine protein and mRNA expression of synaptic vesicle 2 (SV2) isoforms A, B and C in breast cancer cell lines. Cultured cell lines MDA-MB-231, SKBR3, T47D were lysed and their protein and mRNA expression analyzed by real-time PCR and western blot technique, respectively. SV2A, B proteins were identified in non-tumor (MCF-10A) and tumor cell lines (MDA-MB-231 and T47D) while SV2C only was found in the T47D cell line. Furthermore, the genomic expression was consistent with protein expression for a such cell line, but in MDA-MB-231 there was no SV2B genomic expression, and the SV2C mRNA and protein were not found in the non tumoral cell line. These findings suggest a possible cellular transdifferentiation to neural character in breast cancer, of possible relevance to cancer development, and point to possible use of SV2 as molecular marker and a vehicle for cancer treatment with botulinum toxin.

• Genomics & Informatics
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• v.11 no.4
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• pp.254-262
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• 2013

The multidrug resistance protein 2 (MRP2, ABCC2) gene may determine individual susceptibility to adverse drug reactions (ADRs) in the central nervous system (CNS) by limiting brain access of antiepileptic drugs, especially valproic acid (VPA). Our objective was to investigate the effect of ABCC2 polymorphisms on ADRs caused by VPA in Korean epileptic patients. We examined the association of ABCC2 single-nucleotide polymorphisms and haplotype frequencies with VPA related to adverse reactions. In addition, the association of the polymorphisms with the risk of VPA related to adverse reactions was estimated by logistic regression analysis. A total of 41 (24.4%) patients had shown VPA-related adverse reactions in CNS, and the most frequent symptom was tremor (78.0%). The patients with CNS ADRs were more likely to have the G allele (79.3% vs. 62.7%, p=0.0057) and the GG genotype (61.0% vs. 39.7%, p=0.019) at the g.-1774delG locus. The frequency of the haplotype containing g.-1774Gdel was significantly lower in the patients with CNS ADRs than without CNS ADRs (15.8% vs. 32.3%, p=0.0039). Lastly, in the multivariate logistic regression analysis, the presence of the GG genotype at the g.-1774delG locus was identified as a stronger risk factor for VPA related to ADRs (odds ratio, 8.53; 95% confidence interval, 1.04 to 70.17). We demonstrated that ABCC2 polymorphisms may influence VPA-related ADRs. The results above suggest the possible usefulness of ABCC2 gene polymorphisms as a marker for predicting response to VPA-related ADRs.

• Journal of Embryo Transfer
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• v.28 no.3
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• pp.207-213
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• 2013

This study was carried out to examine a molecular marker system for parentage test in Jeju Black cattle (JBC). Based on the preliminarily studies, we finally selected for construction of a novel genetic marker system for molecular traceability, identity test, breed certification, and parentage test in JBC and its related industrial populations. The genetic marker system had eight MS markers, five indel markers, and two single nucleotide polymorphisms (SNPs; g.G299T and g.del310G) within MC1R gene which is critical to verify the breed specific genotypes for coat color of JBC differing from those of exotic black cattle breeds such as Holstein and Angus. The results showed lower level of a combined non-exclusion probability for second parent (NE-P2) of $4.1202{\times}10^{-4}$ than those previously recommended by International Society of Animal Genetics (ISAG) of $5.000{\times}10^{-4}$ for parentage, and a combined non-exclusion probability for sib identity (NE-SI) of $2.679{\times}10^{-5}$. Parentage analysis has been successfully identified the JBC offspring in the indigenous population and cattle farms used the certified AI semens for production using the JBC-derived offspring for commercial beef. This combined molecular marker system will be helpful to supply genetic information for parentage test and traceability and to develop the molecular breeding system for improvement of animal productivity in JBC population.

• Journal of Genetic Medicine
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• v.12 no.1
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• pp.49-56
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• 2015

We herein report an analysis of a female baby with a de novo dup(10p)/del(10q) chromosomal aberration. A prenatal cytogenetic analysis was performed owing to abnormal ultrasound findings including a choroid plexus cyst, prominent cisterna magna, and a slightly medially displaced stomach. The fetal karyotype showed additional material attached to the terminal region of chromosome 10q. Parental karyotypes were both normal. At birth, the baby showed hypotonia, upslanting palpebral fissures, a nodular back mass, respiratory distress, neonatal jaundice and a suspicious polycystic kidney. We ascertained that the karyotype of the baby was 46,XX,der(10)($pter{\rightarrow}q26.3::p11.2{\rightarrow}pter$) by cytogenetic and molecular cytogenetic analyses including high resolution GTG-and RBG-banding, fluorescence in situ hybridization, comparative genomic hybridization, and short tandem repeat marker analyses. While almost all reported cases of 10p duplication originated from one of the parents with a pericentric inversion, our case is extraordinarily rare as the de novo dup(10p)/del(10q) presumably originated from a rearrangement at the premeiotic stage of the parental germ cell or from parental germline mosaicism.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.5
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• pp.3229-3235
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• 2013

Background: Many breast cancers are caused by certain rare and familial mutations in the high or moderate penetrance genes BRCA1, BRCA2 and CHEK2. The aim of this study was to examine the allele and genotype frequencies of seven mutations in BRCA1, BRCA2 and CHEK2 genes in breast cancer patients and to investigate their isolated and combined associations with breast cancer risk. Methods: We genotyped seven mutations in BRCA1, BRCA2 and CHEK2 genes and then analyzed single variations and haplotype associations in 106 breast cancer patients and 80 healthy controls. Results: We found significant associations in the analyses of CHEK2- 1100delC (p=0.001) and BRCA1-5382insC (p=0.021) mutations in breast cancer patients compared to controls. The highest risk was observed among breast cancer patients carrying both CHEK2-1100delC and BRCA2- Met784Val mutations (OR=0.093; 95%CI 0.021-0.423; p=0.001). We identified one previously undescribed BRCA2 and a CHEK2 four-marker haplotype of A-C-G-C which was overrepresented ($X^2$=7.655; p=0.0057) in the patient group compared to controls. Conclusion: In this study, we identified a previously undescribed BRCA2 and CHEK2 A-C-G-C haplotype in association with the breast cancer in our population. Our results further suggest that the CHEK2-1100delC mutation in combination with BRCA2-Met784Val may lead to an unexpected high risk which needs to be confirmed in larger cohorts in order to better understand their role in the development and prognosis of breast cancer.

• Journal of Plant Biotechnology
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• v.50
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• pp.34-44
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• 2023

The tetraploid Solanum hjertingii, a wild tuber-bearing species from Mexico is a relative of potato, S. tuberosum. The species has been identified as a potential source of resistance to blackening for potato breeding. It does not exhibit enzymatic browning nor blackspot which are physiological disorders. However, due to their sexual incompatibility, somatic hybridization between S. hjertingii and S. tuberosum must be used to introduce various traits from this wild species into potato. After somatic hybridization, molecular markers are essential for selecting fusion products. In this study, the chloroplast genome of S. hjertingii was sequenced by next-generation sequencing technology and compared with those of other Solanum species to develop specific markers for S. hjertingii. The chloroplast genome has a total sequence length of 155,545 bp, and its size, gene content, order and orientation are similar to those of the other Solanum species. Phylogenic analysis including 15 other Solanaceae species grouped S. hjertingii with S. demissum, S. hougasii, and S. stoloniferum. After detailed comparisons of the chloroplast genome sequence with eight other Solanum species, we identified one InDel and seven SNPs specific to S. hjertingii. Based on these, five PCR-based markers were developed for discriminating S. hjertingii from other Solanum species. The results obtained in this study will aid in exploring the evolutionary aspects of Solanum species and accelerating breeding using S. hjertingii.

• Journal of Genetic Medicine
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• v.2 no.2
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• pp.71-77
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• 1998

Comparative genomic hybridization (CGH) can now be applied to detect the origin of extra or missing chromosomal material in cases with common unbalanced aberrations and in prenatal investigations. This method has been used in 13 cases of fetal samples for this study; 3 for amniocytes, 2 for cord blood and 8 for abortus tissues. These samples were previously subjected to GTG-banding. Our study showed aneuploidy in 8 cases, and partial monosomy, partial trisomy or marker chromosome in the remaining 5. The CGH disclosed further small genetic imbalances in 4 of all 13 cases: a prenatal sample showing del(20)(q13) by GTG confirmed a loss of the segment 20p13-pter by CGH; a marker chromosome manifested normal CGH profile; chromosome der(?)(?;15) found in an abortus sample by GTG turned out to be a loss of 15pter-q14 (partial monosomy) and a gain of 10pter-q22 (partial trisomy); the der(15) shown by GTG represented partial trisomy of 3q24-qter. These findings show that CGH is very useful and efficient for cytogenetic investigations of clinical cases.