• Journal of Genetic Medicine
• /
• v.7 no.2
• /
• pp.111-118
• /
• 2010

Chromosomal microarray analysis (CMA) enables the genome-wide detection of submicroscopic chromosomal imbalances with greater precision and accuracy. In most other countries, CMA is now a commonly used clinical diagnostic test, replacing conventional cytogenetics or targeted detection such as FISH or PCR-based methods. Recently, some consensus statements have proposed utilization of CMA as a first-line test in patients with multiple congenital anomalies not specific to a well-delineated genetic syndrome, developmental delay/intellectual disability, or autism spectrum disorders. CMA can be used as an adjunct to conventional cytogenetics to identify chromosomal abnormalities observed in G-banding analysis in constitutional or acquired cases, leading to a more accurate and comprehensive assessment of chromosomal aberrations. Although CMA has distinct advantages, there are several limitations, including its inability to detect balanced chromosomal rearrangements and low-level mosaicism, its interpretation of copy number variants of uncertain clinical significance, and significantly higher costs. For these reasons, CMA is not currently a replacement for conventional cytogenetics in prenatal diagnosis. In clinical applications of CMA, knowledge and experience based on genetics and cytogenetics are required for data analysis and interpretation, and appropriate follow-up with genetic counseling is recommended.

• Applied Chemistry for Engineering
• /
• v.34 no.2
• /
• pp.111-120
• /
• 2023

The nucleation mechanism was studied using a calcium ion selective electrode (Ca ISE) to observe the formation of CaCO₃, a representative mineral in the CO2 cycle, and to analyze the effect of the Mg/Ca-ratio and temperature on the formation of pre-nucleation cluster (PNC) and CaCO₃. As a result of the experiment, a small amount of crystal was formed. Energy dispersive X-ray spectroscopy (EDS) was used for surface element analysis, and a field emission scanning-electron microscope (FE-SEM) was used for the morphology analysis of synthesized carbonates. These results showed that various shapes of crystalline CaCO₃ (calcite, aragonite, etc.) were observed for each Mg/Ca ratio and temperature. In addition, the calibration plot obtained from Ca ISE showed information on the formation process of CaCO₃. Our results showed that as magnesium ions interfered with the binding of calcium and carbonate ions and delayed the aggregation between PNCs, the nucleation and formation of CaCO₃ were delayed. On the other hand, the temperature showed an opposite trend as compared to the effect of magnesium under our experimental conditions, indicating that temperature accelerated the formation of CaCO₃. Furthermore, the morphology of CaCO₃ clearly changed according to the Mg/Ca ratio and temperature, and it was confirmed that the two factors are very important for CaCO₃ formation in that they could affect the overall process.

• Korean Journal of Ichthyology
• /
• v.24 no.1
• /
• pp.1-10
• /
• 2012

Reciprocal hybrids between the mud loach ($Misgurnus$ $mizolepis$) and cyprinid loach ($M.$ $anguillicaudatus$) were produced by artificial fertilization. The chromosome number of mud loach was 2n=48, consisting of 12M+4SM+32A chromosomes. The cyprinid loach has 2n=50, consisting of 10M+4SM+36A chromosomes. The chromosome numbers of the diploid reciprocal hybrids were 2n=49, consisting of 11M+4SM+34A chromosomes. All the karyotypes documented in this study had the same arm number of 64. There was no evidence of chromosomal polymorphisms or sex-related heteromorphism. The cytogenetic traits of the hybrid genotypes were intermediate between those of the parent species. In all genotypes, the chromosomal NORs localized to the terminal short arms of the same metacentric chromosome pair. These results suggest that Robertsonian translocation occurred between metacentric chromosome 1 of mud loach and acrocentric chromosome of cyprinid loach.

• Proceedings of the Korean Vacuum Society Conference
• /
• 1999.07a
• /
• pp.156-156
• /
• 1999

자성박막에 존재하는 자기구역의 형상 및 동력학은, 자성박막의 학문적 연구와 응용기술 개발의 핵심을 제공하는 매우 중요한 분야의 하나로서, 최근 크게 관심이 고조되고 있다. 본 연구에서는 차세대 광자기 재질로 각광받고 있는 Co/Pd 다층박막에서의 자기구역 형상 및 자기구역 동력학을 연구하였다. 전자빔 진공증착 시스템을 사용하여, Co 층의 두께와 Pd층의 두께, 그리고 전체 층수가 변화하는 일련의 Co/Pd 다층박막 시료를 제작하였다. 제작된 모든 시료가 명목두께에 대하여 4%의 정밀도로 제작되었음을 확인하였고, 제작된 시료의 자기 및 광자기 성질은 자기이력곡선 등을 측정하였다. 또한 고성능 광자기 Kerr 현미경 시스템을 이용하여 자성박막에 존재하는 자기구역의 형상 및 자기구역 동력학을 관찰하였다. 이 장비는 1,000배의 배율에서 0.3$\mu\textrm{m}$의 공간분해능을 가지며 실시간 자기구역 영상을 CCD 카메라를 통해 컴퓨터에 저장함으로써, 자지구역 거동현상을 관찰할 수 있다. 자성다층박막에 존재하는 자기구역의 형상을 이론적으로 예측하기 위하여, 다층박막 구조에서의 정자기 에너지를 일반적으로 계산할 수 있는 이론을 유도하였다. 이 이론을 통해 다층박막의 자성층의 두께가 두꺼워짐에 따라, 자기구역의 형상이 단일 자기구역 형상에서 줄무늬 자기구역 형상으로 천이함을 예측할 수 있었고, 이러한 지구구역 천이현상을 Co-Pd 다층박막의 자화역전현상을 연구하였고, 새로운 자구동력학 정량분석기술을 개발하여 Co/Pd 다층박막에 적용함으로써 자화역전의 자구벽 이동속도와 핵형성 확률을 각각 정량적으로 구하였다. 이러한 관찰 및 분석기술을 통하여, Co/Pd 다층박막의 층구조에 따라 대조적인 자화역전현상이 존재함을 관찰하였다. 이러한 대조적인 자화역전현상을 결정짓는 요인을 연구하기 위해서 나노자성학이온을 이용한 자화역전현상을 결정짓는 요인을 연구하기 위해서 나노자성학이온을 이용한 자화역전모델을 개발하였으며, 이를 통하여 자성박막의 거시적 자기성질에 의해 이러한 대조적인 자화역전모델을 개발하였으며, 이를 통하여 자성박막의 거시적 자기성지에 의해 이러한 대조적인 자화역전현상이 결정될 수 있음을 설명하였다. 또한, 미시적 자기이력곡선 측정을 통하여 자성박막구조에 따른 국소적인 구조불균일성을 관찰하였고, 이러한 구조불균일성 또한 대조적인 자화역전현상을 결정하는 큰 요인임을 논의하였다.

• Applied Chemistry for Engineering
• /
• v.18 no.1
• /
• pp.94-97
• /
• 2007

Carbon nanotubes and nanowires were prepared by methane pyrolysis over Pd(5)/SPK catalyst by changing oxygen molar ratio in a fixed bed flow reactor under atmospheric condition and also analyzed by SEM and TEM. When the $CH_4/O_2$ molar ratio was 1, carbons were not almost deposited on the catalyst bed support, but when it was 2, carbons were deposited as much as plugging reactor. TEM and SEM images for the deposited carbons showed a number of single-walled carbon nanotubes and carbon nanowires. The growth mechanism of carbon nanotubes produced on the catalyst surface was the tip growth mode. It should be played an important role in carbon nanotubes and nanowires produced on the catalyst bed support to formate the carbon growth velocity vectors and nuclei of ring structure of carbon nanowires. SPK carrier was $N_2$ isotherm of IV type with mesopores, and excellent in the thermal stability.

• The Korean Journal of Mycology
• /
• v.42 no.2
• /
• pp.138-143
• /
• 2014

Several isolates were collected from apple, pepper, strawberry, cucumber and tomato having typical gray mold symptoms. All the isolates were identified as Botrytis cinerea by using morphological characteristics and PCR-RFLP method. It was difficult to analyze the phylogenetic relationship of these isolates by using ITS region, HSP60 and G3PDH because these genes were highly homologous in their nucleotide in inter-species of B. cinerea and intra-species of genus Botrytis. However, phylogenetic analysis using combined sequences (RPB2, HSP60 and G3PDH genes) clearly showed that all isolate of B. cinerea were different from Botrytis spp. Furthermore, it was also confirmed that strawberry isolate was distantly related to apple, pepper, cucumber and tomato isolates that were closely related to each other in nucleotide level.

• Korean Journal of Plant Resources
• /
• v.19 no.1
• /
• pp.105-111
• /
• 2006

The objectives of this study, an analysis of fruit and leaf morphological characteristics among the five Zizyphus cultivars could be used for the investigation of cultivars classification and could provide information to make out the UPOV TG(Test Guidelines). ANOVA tests showed that there were statistically significant differences in all fruit and leaf morphological characteristics among the five Zizyphus cultivars at 1% level. But, for kernel characteristics, differences were statistically non-significant among the cultivars. Approximately, the Wolchul and Boeun cultivars showed larger and smaller values in overall characteristics and cultivars, respectively. The results of principal component analysis(PCA) for the fruit and leaf morphological characteristics showed that the first for principal components(PC's) explained about 65.3% of the total variation. The first PC was correlated with those characteristics that were mainly related to the terminal leaf length(TLL), leaf length(LL), fruit length(FL), terminal leaf width(TLW), and leaf petiole length(LPL). The second and third PC was mainly correlated with the terminal leaf morphological index(TLMI). Therefore, these characteristics were important to analysis of the fruit and leaf morphological characteristics and classification among the five Zizyphus cultivars. Cluster analysis using UPGMA method based on principal components showed that five Zizyphus cultivars could be clustered into two groups. Group I comprises Mudung, Wolchul, and Bokjo and Geumsung cultivars, Group II is Boeun cultivar. These results well similar to that of principal component analysis.

• Korean Journal of Poultry Science
• /
• v.36 no.4
• /
• pp.293-300
• /
• 2009

The rate of fetus with abnormal chromosomes increase with maternal age. Nondisjunction of aging oocyte chromosome is a major reason for the increased rate of abnormalities. Telomeres are the ends of eukaryotic chromosome, which are essential for chromosome stability and are related in cell senescence. This study was carried out to analyze the chromosome aberration rate and amount of telomeric DNA in chick embryo along with maternal age. Fertilized eggs and blood were sampled from White Leghorn layers starting at 20 weeks through to 70 weeks age at 10 weeks interval. Chromosome aberration rate was analyzed by karyotyping. The amounts of telomeric DNA in embryonic cells and lymphocytes were quantified by Quantitative Fluorescence in situ Hybridization method. The chromosome aberration rate in chick embryos significantly differed with maternal age. The chromosome aberration rate increased at early laying period and beyond 70 weeks of maternal age. Therefore, chromosome aberration rate was affected by maternal age due to ovulated oocytes state. However, the amount of telomeric DNA on embryonic cells did not differ significantly with maternal age. Thus, maternal age does not affects telomere quantity in their embryos due to cellular reprograming at early embryonic stage after fertilization.

• Korean Journal of Microbiology
• /
• v.33 no.1
• /
• pp.31-37
• /
• 1997

Intergeneric hybrids between Aspergillus niger and Perricillium ch~y.sop~um(Tyr ), hyperlipolytic enzyne-producing fungi, were obtained by nuclear transfer technique:. Optimal conditions for formation of intergeneric hybrids were investigated. Maximum production of protoplasts were obtainrd by 1% Novozym 234 at $30^{\circ}C$ for 3 hrs and the most effective osmotic stabilizers for the isolation of protoplasts were 0.6 M KC]. Frequencies of hybrid formation by nuclear transfer were $1.3{\times}$10^{-3}$$ $-3.8{\times}$10^{-3}$$. From the chervation of genetic stability, conidial size, DNA content, ;md nuclear stain, it was suggested that their karyotypes are aneuploid. The hybrids showed 1.4-2.2 fold higher lipase activities than parental strains. It was strongly supported by results of this study that nuclear transfer technique is much more efficient in the formation of intergeneric hybrids than protoplast fusion and is very useful for the improvement of strains.

• Korean Journal of Materials Research
• /
• v.4 no.6
• /
• pp.611-619
• /
• 1994

The formation of , $\beta$-quartz solid solution in the $LiO_2-Al_2O_3-SiO_2$glasses containing $TiO_{2}$ and $ZrO_{2}$ as nucleating agents was investigated for various temperatures and times. Linear thermal expansion coefficients of base glasses and crystallized glasses were $45\sim 55 \times 10^{-7} \textrm{cm}/^{\circ}C$ and $ -8\sim +8 \times 10^{-7}\textrm{cm}/^{\circ}C$ ($25^{\circ}C \sim 525^{\circ}C$), respectively. The crystal phase formed by heat-treatment below $900^{\circ}C$was , $\beta$--quartz solid solution, and the crystal sizes were less than 0.21m. On the other hand, the crystal size of the base glasses containing 3.5 wt% MgO is relatively uniform and is independent with temperature. The specimen containing 3.5 wt% ZnO shows a minimum crystal size(O.l8$\mu \textrm{m}$), and it strongly depends on temperature of heat-treatment.