• Journal of Genetic Medicine
• /
• v.4 no.1
• /
• pp.64-71
• /
• 2007

Purpose : The purpose of this study was to evaluate the clinical utility of rapid detection of Down syndrome and Edward syndrome by Interphase Fluorescence in Situ Hybridization (FISH) analysis. Methods : Aretrospective study in 309 cases of amniotic fluid samples, analysed by interphase FISH with DNA probes specific to chromosome 18 and 21, was performed. All FISH results w ere compared with conventional cytogenetic karyotypings. Results : The results were considered as informative and they were obtained within 48 hrs. A case of Down syndrome and a case of Edward syndrome were diagnosed by FISH and confirmed by subsequent cytogenetic analysis. In 12 cases with normal FISH results, the cytogenetic analysis showed a case of partial trisomy 22, three cases of sex chromosomal aneuploidy, two cases of mosaicism, two cases of microdeletion, and four cases of structural rearrangement. Conclusion : FISH is a rapid and effective diagnostic method, which can be used as an adjunctive test to cytogenetic analysis, for prenatal identification of chromosome aneuploidies. For the more genome-wide screening with variety of probes, the technique of FISH is both expensive and labor-intensive.

• Journal of Plant Biotechnology
• /
• v.42 no.4
• /
• pp.298-311
• /
• 2015

Grape is one of the important fruit crops around the world, and exposed to disease and pests, and internal or environmental stresses in the vineyards. Breeding and cultivation of new varieties of high quality-grapes resistant to diseases and pests and tolerant to stresses are the most important steps in the grape production. However, conventional breeding has laborious and time-consuming procedures in maintaining and selecting seedlings in the fields. Development of molecular breeding technology through understanding of molecular mechanism of useful traits can be used as an alternative strategy to improve the efficiency of grape breeding program by cross hybridization in grape development programs. The completion of the grape genome sequencing project provided the way to discover the novel genes and to analyze their functions. Comparative genomics, transcriptomic analysis, and the genome-wide identification and analysis of useful genes as well as development of molecular marker for valuable traits could provide novel insights into fruit quality and the responses to diseases and stresses, and can be used as important information in molecular breeding programs for grape development.

• International Journal of Industrial Entomology and Biomaterials
• /
• v.33 no.1
• /
• pp.15-23
• /
• 2016

One major constraint in the development and implementation of a successful and cost-effective area-wide integrated pest management (AW-IPM) programme with a SIT component for Bactrocera oleae (Diptera: Tephritidae) is the ability to produce a large number of high quality mass-reared individuals. The aim of this study was to develop a more efficient and practical egg collection system in an attempt to improve the mass-rearing of this species. The following basic parameters were examined: egg production per female, egg hatch, pupal recovery, pupal weight, adult emergence and percentage of fliers. Three different strains (Israel wild-type, France wild-type, and Greece laboratory) were tested and each strain was evaluated for six generations. Female flies of the Israel strain produced significantly more eggs per female than the other two strains, but egg hatch was significantly lower. Egg hatch of the France wild type and the Greece laboratory strain was similar. For all other parameters, there was no significant difference between strains; however, there was a significant generational effect for all parameters observed. As a result of this study, a protocol was developed for the mass-rearing of this species that included the use of large adult holding cages that could house up to 96,000 flies per cage. The newly developed method of egg collection using a flat wax panel as one of the sides of an adult holding cage proved to be cost-effective, efficient, making colony growth easier for industrial mass-rearing.

• Archives of Craniofacial Surgery
• /
• v.9 no.1
• /
• pp.31-34
• /
• 2008

Introduction: Lymphoepithelioma-like carcinoma of the skin (LELCS) is a rare cutaneous tumor of low grade malignancy and microscopically resembles lymphoepitheliomatous malignancies in the nasopharynx, palatine tonsils, salivary glands and uterine cervix. LELCS presents as scarlet-colored firm nodules or plaques on the face, scalp, or shoulder of middle-aged to elderly individuals. Material and Methods: A 72 year-old female had complained a papule like lesion with intermittent pruritis on the left temple for 2 years. But the lesion was changed to scarlet-colored firm nodule with ulceration. The mass was diagnosed as LELCS on the biopsy. And to confirm that the mass is not metastatic lymphoepithelioma-like carcinoma from other sites or direct tumor extension from the nasopharynx, selective radiographic and laboratory tests were done carefully. Results: Wide excision was performed with general endotracheal anesthesia. The tumor is composed of island of large epithelial cells surrounded by as dense infiltrate of lymphocytes. Immunohistochemical staining with cytokeratin and epithelial membrane antigen(EMA), the tumor cells were positive reaction for stain. And Epstein-Barr virus genome was not detected by in situ hybridization. So, the tumor was confirmed as LELCS. Conclusion: LELCS was described by Swanson at 1988, but has not been reported in the field of plastic surgery of Korea. We report a case of primary LELCS that occurred in the left temple with clinical characteristics, histologic features and references.

• Journal of Genetic Medicine
• /
• v.1 no.1
• /
• pp.45-50
• /
• 1997

Neuroblastoma, a pediatric malignant neoplasm of neural crest origin, has a wide range of clinical virulence. The mechanisms contributing to the development of neuroblastomas are largely unclear, but non-random chromosomal changes identified over the past years suggest the involvement of genetic alterations. Amplification of the human N-myc proto-oncogene is frequently seen either in extrachromosomal double minutes or in homogeneously staining regions (HSRs) of aggressively growing neuroblastomas. N-myc maps to chromosome 2 band 24, but HSR have never been observed at this band, suggesting transposition of N-myc during amplification. We have constructed and analyzed the region-specific painting probe for HSR in neuroblastoma IMR-32 to determine the derivative chromosomes. Microdissection was performed on HSR using an inverted microscope with the help of microglass needles and an micromanipulator. We pretreated the microdissected fragments with Topoisomerase I which catalyzes the relaxation of supercolled DNA, and performed two initial rounds of DNA synthesis with T7 DNA polymerase followed by conventional PCR to enable the reliable preparation of Fluorescent in situ hybridization probe from a single microdissected chromosome. With this method, it was possible to construct the region-specific painting probe for HSR. The probe hybridized specifically to the HSRs of IMR-32, and to 2p24, 2p13 of normal chromosome. Our results suggest there was coamplification of N-myc together with DNA of the chromosome 2p24 and 2p13. Moreover, the fluorescent signals for the amplified chromosomal regions in IMR-32 cells were also easily recognized at a Thus this painting probe can be applied to detect the similar amplification of N-myc in neuroblastoma tissue, and the probe pool for HSR may be used to identify the cancer-relevant genes.

• Genomics & Informatics
• /
• v.8 no.1
• /
• pp.19-27
• /
• 2010

To discover genetic markers for autism spectrum disorder (ASD), we previously applied genome-wide BAC array comparative genomic hybridization (array-CGH) to 28 autistic patients and 62 normal controls in Korean population, and identified that chromosomal losses on 8p23.1 and on 17p11.2 are significantly associated with autism. In this study, we developed an 8.5K ASD-specific BAC array covering 27 previously reported ASD-associated CNV loci including ours and examined whether the associations would be replicated in 8 ASD patient cell lines of four different ethnic groups and 10 Korean normal controls. As a result, a CNV-loss on 8p23.1 was found to be significantly more frequent in patients regardless of ethnicity (p<0.0001). This CNV region contains two coding genes, DEFA1 and DEFA3, which are members of DEFENSIN gene family. Two other CNVs on 17p11.2 and Xp22.31 were also distributed differently between ASDs and controls, but not significant (p=0.069 and 0.092, respectively). All the other loci did not show significant association. When these evidences are considered, the association between ASD and CNV of DEFENSIN gene seems worthy of further exploration to elucidate the pathogenesis of ASD. Validation studies with a larger sample size will be required to verify its biological implication.

• Korean Journal of Head & Neck Oncology
• /
• v.24 no.2
• /
• pp.155-161
• /
• 2008

Head and neck squamous cell carcinoma(HNSCC) still has poor outcome, and laryngeal cancer is the most frequent subtype of HNSCC. Therefore, there is a need to develop novel treatments to improve the outcome of patients with HNSCC. It is critical to gain further understanding on the molecular and chromosomal alteration of HNSCC to identify novel therapeutic targets but genetic etiology of squamous cell carcinoma of the larynx is so complex that target genes have not yet been clearly identified. Array based CGH(array-CGH) allows investigation of general changes in target oncogenes and tumor suppressor genes, which should, in turn, lead to a better understanding of the cancer process. In this study, We used genomic wide array-CGH in tissue specimens to map genomic alterations found in laryngeal squamous cell carcinomas. As results, gains of MAP2, EPHA3, EVI1, LOC389174, NAALADL2, USP47, CTDP1, MASP1, AHRR, and KCNQ5, with losses of SRRM1L, ANKRD19, FLJ39303, ZNF141, DSCAM, GPR27, PROK2, ARPP-21, and B3GAT1 were observed frequently in laryngeal squamous cell carcinoma tissue specimens. These data about the patterns of genomic alterations could be a basic step for understanding more detailed genetic events in the carcinogenesis and also provide information for diagnosis and treatment in laryngeal squamous cell carcinoma. The high resolution of array-CGH combined with human genome database would give a chance to find out possible target genes which were gained or lost clones.

• Journal of Crop Science and Biotechnology
• /
• v.11 no.4
• /
• pp.257-262
• /
• 2008

Genetic diversity of cultivated wheat is narrowing down and is increasingly becoming non-complacent in tackling new pathogenic races and adverse environmental situations. Wild relatives of wheat are rich repositories of beneficial genes that are capable of defying adverse situations. However, these wild species are not readily crossable with cultivated ones. The present study attempted to cross three wild wheat species as females with three cultivated species of varying ploidy to understand the intricate behaviour of hybrids in relation to cytology, morphology, and molecular recombination. Post-fertilization barriers caused hybrid recovery in wild species in contrast to cultivated species. Triticum monococcum did not produce hybrids in any of the crosses. Various degrees of chromosome anomalies and hybrid sterility were seen with hybrids of T. timopheevi and T. sphaerococcum. Cytoplasmic factors were suspected to add more to the abnormality. G genome from T. timopheevi could enhance more pairing between Band D of cultivated species. Precocity of certain chromosomes in laggard formation was evident, pointing towards evolutionary self balance of the genomes which prevented homeologous pairing. They are eliminated in hybrids. Molecular diversity clearly corroborated with genetic proximity of the species, which distinguished themselves by maintaining the genome homeology.

• Journal of Microbiology and Biotechnology
• /
• v.17 no.5
• /
• pp.761-768
• /
• 2007

Serratia proteamaculans HY-3 isolated from the digestive tract of a spider produces an extracellular protease named arazyme, with an estimated molecular mass of 51.5 kDa. The purified enzyme was characterized as having high activities at wide pH and temperature ranges. We further characterized biochemical features of the enzymatic reactions under various reaction conditions. The protease efficiently hydrolyzed a broad range of protein substrates including albumin, keratin, and collagen. The dependence of enzymatic activities on the presence of metal ions such as calcium and zinc indicated that the enzyme is a metalloprotease, together with the previous observation that the proteolytic activity of the enzyme was not inhibited by aspartate, cysteine, or serine protease inhibitors, but strongly inhibited by 1,10-phenanthroline and EDTA. The araA gene encoding the exoprotease was isolated as a 5.6 kb BamHI fragment after PCR amplification using degenerate primers and subsequent Southern hybridization. The nucleotide sequence revealed that the deduced amino acid sequences shared extensive similarity with those of the serralysin family of metalloproteases from other enteric bacteria. A gene(inh) encoding a putative protease inhibitor was also identified immediately adjacent to the araA structural gene.

• Proceedings of the Korean Vacuum Society Conference
• /
• 2010.02a
• /
• pp.174-174
• /
• 2010

Gallium Nitride(GaN) attracts great attention due to their wide band gap energy (3.4eV), high thermal stability to the solid state lighting devices like LED, Laser diode, UV photo detector, spintronic devices, solar cells, sensors etc. Recently, researchers are interested in synthesis of polycrystalline and amorphous GaN which has also attracted towards optoelectronic device applications significantly. One of the alternatives to deposit GaN at low temperature is to use Single Source Molecular Percursor (SSP) which provides preformed Ga-N bonding. Moreover, our group succeeds in hybridization of SSP synthesized GaN with Single wall carbon nanotube which could be applicable in field emitting devices, hybrid LEDs and sensors. In this work, the GaN thin films were deposited on c-axis oriented sapphire substrate by MBE (Molecular Beam Epitaxy) using novel single source precursor of dimethyl gallium azido-tert-butylamine($Me_2Ga(N_3)NH_2C(CH_3)_3$) with additional source of ammonia. The surface morphology, structural and optical properties of GaN thin films were analyzed for the deposition in the temperature range of $600^{\circ}C$ to $750^{\circ}C$. Electrical properties of deposited thin films were carried out by four point probe technique and home made Hall effect measurement. The effect of ammonia on the crystallinity, microstructure and optical properties of as-deposited thin films are discussed briefly. The crystalline quality of GaN thin film was improved with substrate temperature as indicated by XRD rocking curve measurement. Photoluminescence measurement shows broad emission around 350nm-650nm which could be related to impurities or defects.