• Genomics & Informatics
• /
• v.15 no.3
• /
• pp.82-86
• /
• 2017

Chromosomal microarray (CMA) is a high-resolution, high-throughput method of identifying submicroscopic genomic copy number variations (CNVs). CMA has been established as the first-line diagnostic test for individuals with developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), and multiple congenital anomalies (MCAs). CMA analysis was performed in 42 Korean patients who had been diagnosed with unexplained DD, ID, ASDs, and MCAs. Clinically relevant CNVs were discovered in 28 patients. Variants of unknown significance were detected in 13 patients. The diagnostic yield was high (66.7%). CMA is a superior diagnostic tool compared with conventional karyotyping and fluorescent in situ hybridization.

• Proceedings of the Microbiological Society of Korea Conference
• /
• 2005.05a
• /
• pp.189.3-189
• /
• 2005

• Clinical and Experimental Pediatrics
• /
• v.59 no.2
• /
• pp.91-95
• /
• 2016

We report the case of a 22-month-old boy with a new mosaic partial unbalanced translocation of 1q and 18q. The patient was referred to our Pediatric Department for developmental delay. He showed mild facial dysmorphism, physical growth retardation, a hearing disability, and had a history of patent ductus arteriosus. White matter abnormality on brain magnetic resonance images was also noted. His initial routine chromosomal analysis revealed a normal 46,XY karyotype. In a microarray-based comparative genomic hybridization (aCGH) analysis, subtle copy number changes in 1q32.1-q44 (copy gain) and 18q21.33-18q23 (copy loss) suggested an unbalanced translocation of t(1;18). Repeated chromosomal analysis revealed a low-level mosaic translocation karyotype of 46,XY,der(18)t(1;18) (q32.1;q21.3)[12]/46,XY[152]. Because his parents had normal karyotypes, his translocation was considered to be de novo. The abnormalities observed in aCGH were confirmed by metaphase fluorescent in situ hybridization. We report this patient as a new karyotype presenting developmental delay, facial dysmorphism, cerebral dysmyelination, and other abnormalities.

• Korean Journal of Animal Reproduction
• /
• v.20 no.3
• /
• pp.323-331
• /
• 1996

Predetermination of sex in mammalian species has many aspects of application including the prenatal diagnoses of genetic disorders in humans and sex-selected breeding programs in the animal industry. Embryos sexing can be carried out using the polymerase chain reaction (PCR) to amplify specific sequences present in the sex chromosomes, or by fluorescent in situ hybridization (FISH) of specific probes to the X and Y chromosomes. A 3.3 kb porcine male-specific DNA fragment (pEM39) was cloned previously in our laboratory. In this study, FISH and PCR methods were employed to examine if the pEM39 can be used a sex-specific DNA probes Porcine ovaries were obtained from a local slaughter house and oocytes collected. All oocytes were subjected to in vitro maturation followed by 1n vitro fertilization. Parthenogenetically activated embryos were served as a negative control. Embryonic samples were collected at the 2-cell stages and PCR was performed to analyze DNA. Among 10 embryos examined, four embryos were identified as males and six were females. The cloned male-specific DNA fragment showed male-specificity for the cells in the liver tissue and the porcine early embryos by FISH. It was also demonstrated that the cloned male-specific DNA is localized on the hetero chromatic region of the long arm in the Y chrom-osome (Yq) as shown by the FISH and karyotyping. The results suggest that the cloned male-specific DNA fragment may be useful for predetermination of sex with a few embryonic cells. The porcine male-specific sequence can be a reliable index for embryo sexing by PCR.

• Korean Journal of Microbiology
• /
• v.38 no.1
• /
• pp.31-37
• /
• 2002

For elucidating the correlation between the eubacterial community structure and environmental parameters in Nammae Reservoir located in Kyungsan, Kyungbuk, the bacterial community structure and their structure affecting environmental parameters were analyzed using Fluorescent In Situ Hybridization (FISH) monthly over year. $\alpha$ . $\beta$ . $\gamma$-subclasses of Proteobacteria and Cytophaga-Flavobacterium (CF) group known as dominant bacterial group in freshwater were detected in 3 stations over year. The ratio of each subclass to total bacteria was determined; $\alpha$.$\beta$ . $\gamma$-subclasses and CF group varied in the range of 4.0~29.2%, 1.7~25.8%, 1.8~12.8%, 4.9~36.3%, respectively and there was no substantial differences between stations. In terms of the correlation between each group specific bacteria and environmental parameters such as temperature, SS, pH, DOC, NH$_4$-N, NO$_3$-N, PO$_4$-P, standing crops of algae, the results were as follows: 1) total bacterial numbers correlated positively with temperature, SS and DOC, 2) Eubacteria positively with DOC and Chl-$\alpha$, 3)${\gamma}$-subclass positively with DOC, and 4) CF group positively with standing crops of chlorophyceae, 5) whereas $\beta$-subclass bacteria correlated negatively with standing crop of cyanobacteria and that of total algae.

• Korean Journal of Microbiology
• /
• v.39 no.2
• /
• pp.95-101
• /
• 2003

The total bacterial numbers, Eubacterial community structures and environmental factors which affect bacterial community were estimated monthly using DAPI and fluorescent in situ hybridization monthly, from June to November 2000 to evaluate the correlation between the bacterial community and environmental factors in eutrophic agricultural Masan reservoir in Asan. Average water temperatures varied from 12.3 to $27.5^{\circ}C$, pH 7.5 to 9.0, DO 7. I~12.8 mg/L, COD 6.4~13.0 mg/L, chlorophyll a 30.5~99.0 mg/㎥, SS 7.S~25.7 mg/L, TN 1.748~3.543 mg/L., and TP 0.104~0.581 mg/L, respectively. Total bacterial numbers showed high ranges from 0.4 to 9.6$\times$ $10^{6}$ cells/ml, and these indicated the mesotrophic or eutrophic state. The ratio of Eubacteria to total bacteria was 67.6-88.0%, which was higher than that in other reservoir. The relationships of total bacteria and Eubacteria community were more significant with organic nitrogen (Org-N), and organic phosphorus (Org-P) than with water temperature. Proteobacteria groups showed strongly significant relationships with Org-P and Org-N and significant relationships with water temperature, conductivity, COD, and inorganic nitrogen. C-F group was the most significant with Org-N, and HGC group with water temperature. However, relationships of Chl-a, pH, DO and SS showed no significance with any bacterial community. These results were different from other studies, because of the specific characteristics of Masan reservoir such as old, shallow and eutrophic states. The seasonal variation of bacterial community in Masan reservoir does not seem to depend on phytoplankton dynamics but on storm event and organic materials from watershed and the sediment of reservoir.

• Journal of Korean Society of Environmental Engineers
• /
• v.27 no.12
• /
• pp.1311-1320
• /
• 2005

The purpose of this research is to survey characteristics of microbial community and the removal efficiency of organic materials for biological activated carbon in water treatment plant. Coal based activated carbon retained more attached bacterial biomass on the surface of the activated carbon than the other activated carbon with operating time and materials. The heterotrophic plate count(HPC), eubacteria(EUB) and 4,6-diamidino-2-phenylindole(DAPI) counts were ranged from $0.95{\times}10^7$ to $52.4{\times}10^7$ CFU/g, from $3.8{\times}10^8$ to $134.2{\times}10^8$ cells/g and from $7.0{\times}10^8$ to $250.2{\times}10^8$ cells/g, respectively. The biomass of EUB and DAPI appeared to be much more $10^2$ than HPC, which were increasing in bed volume of 20,000 at the stage of steady-state. The change of microbial community by analyzing fluorescent in situ hybridization(FISH) method with rRNA-targeted oligonucleotide probes, the dominant group was $\alpha$-proteobacteria($\alpha$ group) and high G+C content bacteria(HGC) the lowest distributing rate before reaching the bed volume of 20,000. After reaching the bed volume of 20,000, $\alpha$ group and other groups of bacteria became decreased, on the other hand, the proportion of both $\beta$-proteobacteria($\beta$ group) and $\gamma$-proteobacteri($\gamma$ group) were increasing. Coconut and wood based activated carbons had similar trend with coal based activated carbon, but the rate of $\alpha$ group on coal based activated carbon had gradually increased. Bacterial production with the operating period appeared highest in coal based activated carbon at the range of $1.2{\sim}3.4\;mg-C/m^3{\cdot}h$ while the coconut and wood based activated carbon were ranged from 1.1 to 2.6 $mg-C/m^3{\cdot}h$ and from 0.7 to 3.5 $mg-C/m^3{\cdot}h$ respectively. The removal efficiency of assimilable organic carbon(AOC) showed to be highly correlated with bacterial production. The correlation coefficient between removal efficiency of AOC and bacterial production were 0.679 at wood based activated carbon, 0.291 at coconut based activated carbon and 0.762 at coal based activated carbon, respectively.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.31 no.2
• /
• pp.314-322
• /
• 2004

The production of a glucan was affected by the concentration of ions and buffer solutions, and nutrients in an oral cavity. In this study, the effects of ions and buffer solutions on the mRNA expression of gtfD gene in Streptococcus mutans, an important causative agent of dental caries, were investigated by Fluorescent in situ hybridization(FISH). At first, ions and buffer solutions had little effect on the multiplication of Streptococcus mutans. The green fluorescence according to the mRNA expression of gtfD gene was detected in the BHI broth containing 1% sucrose. The intensities of the green fluorescence were strong at 0.25mM of $CaCl_2$. Little fluorescence was detected by the addition of KCl, except far 10mM KCl at which fluorescence intensities were similar to those of the control. Fluorescence intensities were weak at each concentration of $MgCl_2$ when compared to the control. As for buffer solutions, fluorescence intensities were similar to those of the control at each concentration of buffer solutions, except that they were little detected at 100mM of potassium phosphate.

• Korean Journal of Microbiology
• /
• v.38 no.3
• /
• pp.192-197
• /
• 2002

Fluorescent in situ hybridization (FISH) with rRNA-targeted oligonucleotide probes was used to compare the community structures of free-living and aggregated bacteria at thawing period in Lake Baikal. Targeted groups were Eubacteria, $\alpha$-, $\beta$-, $\gamma$- proteobacteria groups, Cytophaga-Flavobacterium group and Planctomycetales. Total bacterial numbers of free-living bacteria were ranged from $0.2{\times}10^6\cells{\cdot}ml^-1$ to $3.2{\times}10^6\cells{\cdot}ml^-1$, which were decreasing with depth, while the aggregated bacterial numbers were dramatically increasing from $0.4{\times}10^4 to 3.3{\times}10^4 \cells{\cdot}ml^-1$ with depth. The ratios of EUB probe binding cells to DAPI counts were ranged from 52.3 to 74.1% in free-living bacteria, and from 39.6 to 66.7% in the aggregated bacteria, respectively. Community structures of the aggregated bacteria were very different from each free-living bacteria at every depth. At 25 m depth, where the chlorophyll a concentration was highest, both structures were quite different from those of surface layers, rendering the fact that the community structures might be affected by phytoplankton. The vertical profile of community structure of aggregated bacteria is particular. The proportion of $\beta$-proteobacteria group was increasing with depth and it was 51.8% at 100 m, but the dominant group was $\gamma$-pro-teobacteria group at 250 m. Taken together, the biodiversity and succession of aggregated bacteria are quite different from free-living bacteria.

• KSBB Journal
• /
• v.20 no.6
• /
• pp.438-442
• /
• 2005

Batch experiments were performed to investigate the effects of volumetric mixing ratio(v/v) of two substrates, food wastes(FW) and waste activated sludge(WAS). In batch experiments, optimum mixing ratio for hydrogen production was found at $10{\sim}20$ v/v % addition of WAS. CSTR(Continuous Stirred tank reactor) was operated to investigate the hydrogen productivity and the microbial community under various HRTs and volumetric mixing ratio(v/v) of two substrates. The maximum yield of specific hydrogen production, 140 mL/g VSS, was found at HRT of 2 day and the volumetric mixing ratio of 20:80(WAS:FW). The spatial distribution of hydrogen producing bacteria was observed in anaerobic fermentative reactor using fluorescent in situ hybridization(FISH) method.