• Journal of Genetic Medicine
• /
• 제14권1호
• /
• pp.38-42
• /
• 2017

The 4p deletion syndrome, also known as Wolf-Hirschhorn syndrome, is a well-known genetic disorder caused by a partial deletion of the short arm of chromosome 4. The great variability in the extent of the 4p deletion and the possible contribution of additional genetic rearrangements leads to a wide spectrum of clinical manifestations. Herein, we present our experience with eight cases of 4p deletion syndrome, ascertained prenatally between 1998 and 2016 at our hospital.

• Journal of Genetic Medicine
• /
• 제18권2호
• /
• pp.101-104
• /
• 2021

Xp21 contiguous gene deletion syndrome is associated with complex glycerol kinase deficiency, congenital adrenal hypoplasia, Duchene muscular dystrophy, and intellectual disability. Xp21 gene deletion syndrome is X-linked recessive, so most symptomatic patients are male, and only a few female symptomatic patients have been reported. We report the first female Korean case of an Xp21 deletion. NGS data were analyzed for copy number variation, and the Xp21 deletion (chr X: 29301056-31838200) was confirmed using real-time PCR.

• Clinical and Experimental Pediatrics
• /
• 제59권sup1호
• /
• pp.19-24
• /
• 2016

Constitutional interstitial deletions of the long arm of chromosome 5 (5q) are quite rare, and the corresponding phenotype is not yet clearly delineated. Severe mental retardation has been described in most patients who present 5q deletions. Specifically, the interstitial deletion of chromosome 5q33.3q35.1, an extremely rare chromosomal aberration, is characterized by mental retardation, developmental delay, and facial dysmorphism. Although the severity of mental retardation varies across cases, it is the most common feature described in patients who present the 5q33.3q35.1 deletion. Here, we report a case of a de novo deletion of 5q33.3q35.1, 46,XY,del(5)(q33.3q35.1) in an 11-year-old boy with mental retardation; to the best of our knowledge this is the first case in Korea to be reported. He was diagnosed with severe mental retardation, developmental delay, facial dysmorphisms, dental anomalies, and epilepsy. Chromosomal microarray analysis using the comparative genomic hybridization array method revealed a 16-Mb-long deletion of 5q33. 3q35.1(156,409,412-172,584,708)x1. Understanding this deletion may help draw a rough phenotypic map of 5q and correlate the phenotypes with specific chromosomal regions. The 5q33.3q35.1 deletion is a rare condition; however, accurate diagnosis of the associated mental retardation is important to ensure proper genetic counseling and to guide patients as part of long-term management.

• 한국콘텐츠학회논문지
• /
• 제6권1호
• /
• pp.80-84
• /
• 2006

모음을 삽입시키거나 자음을 탈락시킴으로써 한 음절 내의 영어 연속음을 없애는 자음군 축약 전략이 기존의 연구들마다 다르다는 점에 동기를 부여받아서 한국 학생들의 영어 자음군 축약 전략을 탐구하게 되었다. 대학생 60명의 어두와 어말 자음군 발음을 조사한 결과, 초성이냐 종성이냐 하는 운율적 위치와 자음군이 몇 개로 구성되어 있느냐는 자음군 숫자에 따라 모음 삽입이냐 자음 탈락이냐 하는 자음군 축약 전략에 영향을 미치는 것으로 나타났다. 삽입과 탈락의 오류 비율은 초성보다는 종성에서 높았고 두 개의 자음군보다는 세 개의 자음군에서 높았다. 전반적으로 삽입 오류 비율이 탈락 오류 비율보다 높았으나, 종성 위치의 세 개의 자음군에서는 탈락 비율이 삽입 비율보다 중요하게 높았다. 종성 위치 세 개의 자음군에서 탈락 비율이 높은 것 때문에 운율 위치에 상관없이 세 개의 자음군에서 삽입보다 탈락 비율이 높게 나타났으며 전반적으로 종성에서 탈락 비율이 높이 나타났다.

• Journal of Radiation Protection and Research
• /
• 제36권3호
• /
• pp.119-126
• /
• 2011

Mitochondrial DNA (mtDNA) deletion is a well-known marker for oxidative stress and aging, and contributes to harmful effects in cultured cells and animal tissues. mtDNA biogenesis genes (NRF-1, TFAM) are essential for the maintenance of mtDNA, as well as the transcription and replication of mitochondrial genomes. Considering that oxidative stress is known to affect mitochondrial biogenesis, we hypothesized that ionizing radiation (IR)-induced reactive oxygen species (ROS) causes mtDNA deletion by modulating the mitochondrial biogenesis, thereby leading to cellular senescence. Therefore, we examined the effects of IR on ROS levels, cellular senescence, mitochondrial biogenesis, and mtDNA deletion in IMR-90 human lung fibroblast cells. Young IMR-90 cells at population doubling (PD) 39 were irradiated at 4 or 8 Gy. Old cells at PD55, and H2O2-treated young cells at PD 39, were compared as a positive control. The IR increased the intracellular ROS level, senescence-associated ${\beta}$-galactosidase (SA-${\beta}$-gal) activity, and mtDNA common deletion (4977 bp), and it decreased the mRNA expression of NRF-1 and TFAM in IMR-90 cells. Similar results were also observed in old cells (PD 55) and $H_2O_2$-treated young cells. To confirm that a increase in ROS level is essential for mtDNA deletion and changes of mitochondrial biogenesis in irradiated cells, the effects of N-acetylcysteine (NAC) were examined. In irradiated and $H_2O_2$-treated cells, 5 mM NAC significantly attenuated the increases of ROS, mtDNA deletion, and SA-${\beta}$-gal activity, and recovered from decreased expressions of NRF-1 and TFAM mRNA. These results suggest that ROS is a key cause of IR-induced mtDNA deletion, and the suppression of the mitochondrial biogenesis gene may mediate this process.

• 정보관리연구
• /
• 제41권4호
• /
• pp.165-186
• /
• 2010

본 연구는 정보시스템의 운영 효율성과 관리 비용 절감을 도모하고자 불필요한 데이터를 폐기할 수 있는 기준과 근거를 탐색해 보았다. 국내외 법령 및 정책을 문헌조사하여 데이터 폐기 지침에 응용할 수 있는 내용을 도출하였으며, 이를 기초로 데이터 폐기를 위한 기초안을 마련하였다. 공공기관과 지자체 실무자를 대상으로 데이터 폐기 현황에 대한 면담조사와 데이터 폐기 지침 초안에 대한 설문조사를 실시하였고, 관련 이슈사항에 대해 의견을 수렴하였다. 그 결과, 데이터 폐기의 대상 유형과 절차, 폐기 방법 등을 포함한 지침을 마련할 수 있었다. 연구 결과로 마련된 데이터 폐기 지침을 시범 적용해 본 결과, 폐기 대상의 선정, 폐기 절차별 역할 담당자의 선정, 폐기 요청과 심의 등에 누락되거나 보완해야 할 사항은 나타나지 않아 지침이 실효성이 있는 것으로 파악되었다.

• 말소리와 음성과학
• /
• 제10권2호
• /
• pp.61-68
• /
• 2018

Phonological awareness, or consciousness of speech sounds and operational skill with them, develops in the order word > syllable > phoneme, over the ages of four to seven. Among the various types of phonological awareness tasks, the deletion task has a higher level of difficulty because it requires operation and deletion of sounds within words. This task also has a high correlation with reading proficiency. This study utilized a deletion task with 20 questions to see how operational development depended on age and gender. The deletion task, with 20 questions, was tested on four- to six-year old children developing normally (N = 90). The results showed that phonological awareness performance improved with age. This age effect was not accompanied by a gender effect; age and gender interacted. The study confirmed the development of phonological awareness in four- to six-year-old children who were developing normally. The deletion task can be used to effectively detect the risk of difficulties with phonological awareness in preschoolers with speech, language, and reading problems.

• Journal of Microbiology and Biotechnology
• /
• 제31권12호
• /
• pp.1722-1731
• /
• 2021

The genus Streptomyces is intensively studied due to its excellent ability to produce secondary metabolites with diverse bioactivities. In particular, adequate precursors of secondary metabolites as well as sophisticated post modification systems make some high-yield industrial strains of Streptomyces the promising chassis for the heterologous production of natural products. However, lack of efficient genetic tools for the manipulation of industrial strains, especially the episomal vector independent tools suitable for large DNA fragment deletion, makes it difficult to remold the metabolic pathways and streamline the genomes in these strains. In this respect, we developed an efficient deletion system independent of the episomal vector for large DNA fragment deletion. Based on this system, four large segments of DNA, ranging in length from 10 kb to 200 kb, were knocked out successfully from three industrial Streptomyces strains without any marker left. Notably, compared to the classical deletion system used in Streptomyces, this deletion system takes about 25% less time in our cases. This work provides a very effective tool for further genetic engineering of the industrial Streptomyces.

• Tuberculosis and Respiratory Diseases
• /
• 제45권5호
• /
• pp.975-983
• /
• 1998

연구배경: 3p는 종양억제유전자의 존재가 강력히 의심되는 염색체의 부위로 폐암을 비롯한 여러 암에서 변이가 관찰되고 있다. 본 연구에서는 한국인의 비소세포폐암을 대상으로 3p의 4부위의 microsatellite locus에 대한 PCR-LOH를 시행하여 deletion의 빈도를 관찰하고 그 임상적 의의를 알아보고자 하였다. 방 법: 3p의 3부위의 CA repeat [D3S1228 (3p14.1-14.3), D3S1067 (3p14.3-21.1), D3S1029 (3p21.1-21.3)] 및 1부위의 tetra repeat [D3S1537 (3p22-24.2)] 의 microsatellite를 대상으로 PCR을 시행한 후 polyacrylamide gel에서 전기영동 후 X-ray film에 현상하였다. 정상 폐의 DNA의 PCR product와 폐암 DNA의 PCR product의 band를 비교하여 LOH가 있는 경우를 관찰하였다. 결 과: 62명의 비소세포폐암환자 중 59명에서 informative case이었고 이중 31명 (52.5%)에서 PCR-LOH를 보여 3p의 deletion이 있음을 관찰하였다. 3p deletion의 유무에 따라 환자의 흡연력, 병기 및 병리소견의 차이(squamous cell carcinoma : 55%, adenocarcinoma : 47%)를 관찰할 수 없었다. 또한 3p deletion의 유무는 비소세포폐암환자의 생존기간에도 영향을 주지 못 했으며 squamous cell carcinoma 및 adenocarcinoma로 나눈 군에서도 생존기간에 차이가 없었다. 결 론: 본 연구의 결과로 3p deletion은 한국인의 비소세포폐암 환자에서 많이 관찰되어 중요 역할을 하고 있으나 임상적인 특정과의 연관성은 관찰할 수 없었다.

• Journal of Microbiology and Biotechnology
• /
• 제25권12호
• /
• pp.1977-1988
• /
• 2015

β-1,3-glucanosyltransferases play essential roles in cell wall biosynthesis in yeast. Kluyveromyces lactis has six putative β-1,3-glucanosyltransferase genes. KlGAS1-1 and KlGAS1-2 are homologs of Saccharomyces cerevisiae gene GAS1. RT-qPCR indicated the transcription level of KlGAS1-1 was significantly reduced while heterologous protein (thermostable xylanase B) secretion was enhanced during medium optimization. To evaluate if these two events were related, and to improve xylanase B secretion in K. lactis, we constructed KlGAS1-1 and KlGAS1-2 single deletion strains and double deletion strain, respectively. KlGAS1-1 gene deletion resulted in the highest xylanase B activity among the three mutants. Only the double deletion strain showed morphology similar to that of the GAS1 deletion mutant in S. cerevisiae. The two single deletion strains differed in terms of cell wall thickness and xylanase B secretion. Transcription levels of β-1,3-glucanosyltransferase genes and genes related to protein secretion and transport were assayed. The β-1,3-glucanosyltransferase genes displayed transcription complementation in the cell wall synthesis process. KlGAS1-1 and KlGAS1-2 affected transcription levels of secretion- and transport-related genes. Differences in protein secretion ratio among the three deletion strains were associated with changes of transcription levels of secretion- and transport-related genes. Our findings indicate that KlGAS1-1 deletion is an effective tool for enhancing industrial-scale heterologous protein secretion in K. lactis.