• Neonatal Medicine
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• 제16권1호
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• pp.76-80
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• 2009

저자들은 자궁 내 발육 지연으로 입원한 신새아가 요도하열, 잠복고환, 폐동맥판 협착이 동반되어 시행한 염색체 검사에서 불균형 전도로부터 재조합된 염색체이상의 결과로 8번 염색체 단완 결실과 장완 중복을 보인 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제26권3호
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• pp.245-253
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• 2000

The development and progression of oral cancer is associated with an accumulation of multiple genetic alterations through the multistep processes. Comparative genomic hybridization(CGH), newly developed cytogenetic and molecular biologic technique, has been widely accepted as a useful method to allow the detection of genetic imbalance in solid tumors and the screening for chromosome sites frequently affected by gains or losses in DNA copy number. The authors examined 19 primary oral squamous cell carcinomas using CGH to identify altered chromosome regions that might contain novel oncogenes and tumor suppressor genes. Interrelationship between these genetic aberrations detected and major oncogenes and tumor suppressor genes previously recognized in carcinogenesis of oral cancers was studied. 1. Changes in DNA copy number were detected in 14 of 19 oral cancers (78.9%, mean: 5.58, range: $3{\sim}13$). High level amplification was present in 4 cases at 9p23, $12p21.1{\sim}q13.1$, 3q and $8q24{\sim}24.3$. Fourteen cases(78.9%, mean: 3.00, range: $1{\sim}8$) showed gains of DNA copy number and 12 cases(70.5%, mean: 2.58, range: $1{\sim}9$) revealed losses of DNA copy number. 2. The most common gains were detected on 3q(52.6%), 5p(21.0%), 8q(21.0%), 9p(21.0%), and 11q(21.0%). The losses of DNA copy number were frequently occurred at 9p(36.8%), 17q(36.8%), 13q(26.3%), 4p(21.0%) and 9p(21.0%). 3. The minimal common regions of gains were repeatedly observed at $3q24{\sim}26.7$, $3q27{\sim}29$, $1q22{\sim}31$, $5p12{\sim}13.3$, $8q23{\sim}24$, and 11q13.1-13.3. The minimal common regions of losses were detected at $9q11{\sim}21.3$, 17p31, $13q22{\sim}34$, and 14p16. 4. In comparison of CGH results with tumor stages, the lower stage group showed more frequent gain at 3q, 5q, 9p, and 14q, whereas gains at 1q($1q22{\sim}31$) and 11q($11q13.1{\sim}13.3$) were mainly detected in higher stage group. The loss at $13q22{\sim}34$ was exclusively detected in higher stage. The results indicate that the most frequent genetic alterations in the development of oral cancers were gains at $3q24{\sim}26.3$, $1q22{\sim}31$, and $5p12{\sim}13.3$ and losses at $9q11{\sim}21.3$, 17p31, and 13q. It is suggested that genetic alterations manifested as gains at $3q24{\sim}26.3$, $3q27{\sim}29$, $5p12{\sim}13.3$ and 5p are associated with the early progression of oral cancer. Gains at $1q22{\sim}31$ and $11q13.1{\sim}13.3$ and loss at 13q22-34 could be involved in the late progression of oral cancers.

• Journal of Yeungnam Medical Science
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• 제24권1호
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• pp.85-90
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• 2007

세계보건기구의 분류에 따르면 8번 염색체와 21번 염색체의 전위인 t(8;21)(q22;q22)를 가진 경우는 말초혈액이나 골수에 모세포가 20% 미만이더라도 급성골수성백혈병으로 분류하여야 하며, 이는 흔하지 않은 소견이다. 뿐만 아니라 이런 아형의 백혈병에서 골수의 저세포 충실도는 매두 드물다. 저자들은 골수세포충실도가 5% 미만으로 심하게 감소되어 있고, 골수의 모세포도 20% 미만인 환자에서 t(8;21)을 관찰하여 급성골수성백혈병으로 진단한 1례를 보고하는 바이다. 항암치료에 잘 반응하고 동종골수이식의 생착이 잘 이루어져, t(8;21)을 가진 일반적인 고세포충실성 급성골수성백혈병과 유사하게 좋은 예후를 가지는 것으로 생각된다.

• Genomics & Informatics
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• 제1권2호
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• pp.101-107
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• 2003

Loss of heterozygosity (LOH) has been used to detect deleted regions of a specific chromosome in cancer cells. LOH on chromosome 16q has been reported to occur frequently in progressed hepatocellular carcinoma (HCC). Liver tissues from 37 Korean HCC patients were analyzed for LOH by using 25 polymorphic microsatellite markers distributed along 16q. Out of the 37 HCC patients studied, 21 patients (56.8%) showed LOH in various regions of 16q with at least one polymorphic marker. Puring the analysis of these 21 LOH cases, 6 patients showed interstitial LOHs in which the boundary of the LOH region was defined. With two rounds of LOH analysis, five commonly occurring interstitial LOH regions were identified; 16q21-22.1, 16q22.2 - 22.3, 16q22.3, 16q23.2 and 16q23.3 - 24.1. Among the five LOH regions the 16q23.3 - 24.1 region has been reported to be related with chromosome instability. A complete physical map, which covers the 3.2 Mb region of 16q23.3 - 24.1 (D16S402 and D16S486), was constructed to identify novel candidate tumor suppressor genes. We provide the minimally tiling path map consisting of 28 BAC clones. There was one gap between NT_10422.11 and NT_019609.9 of the human genome sequence contig (NCBI sequence build 33, April 29, 2003). This gap can be filled by sequencing the R-1425M20 clone which bridges these sequence contigs.

• 대한두경부종양학회지
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• 제24권1호
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• pp.33-42
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• 2008

Head and neck squamous cell carcinoma(HNSCC) is notorious for its poor outcome and increasing incidence. But, the studies of cytogenetic analysis in HNSCC are relatively rare, because of difficulties in culturing solid tumor cells and complexity in chromosomal DNA abberations associated with the lesions. The purpose of this study is to evaluate the location of chromosomal aberrations in Korean HNSCC cell lines (SNU-1041, 1066, and 1076) with comparative genomic hybridization(CGH) and array based CGH(array-CGH). Chromosomal gains of 3q23-q27, 5p13-p15.3, 7p21-pter, 8q11.2-q12, 8q21.1-qter, 9q22-q34, 16q22-q24, and 20q11.2-qter, as well as chromosomal losses on 3p10-p14 were found in all 3 SNU cell lines. Losses on 3p15- p23, 4q22-q27, 4q31.3-qter, 6q14-q15, 7q31-q34, 8p12-pter, 18q21-q23, and 21q11.2-q12 were observed in 2 of 3 cell lines. In array-CGH, many genes were altered including gains of PIK3CA, MYC, EVI1, MAD1L1 genes and losses of SERPIN genes. These aberrations of gene and chromosome coincide with other results of study, generally. These data about the patterns of chromosomal aberrations could be a basic step for understanding more detailed genetic events in the carcinogenesis and also provide information for diagosis and treatment in HNSCC.

• Journal of the Korean Wood Science and Technology
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• 제38권4호
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• pp.359-374
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• 2010

국내산 낙엽성 참나무류인 신갈나무, 상수리나무, 떡갈나무, 졸참나무, 갈참나무 및 굴참나무 수피의 추출성분의 구조를 규명하고 수종 상호간 성분의 특성 및 연관성 등을 조사하였다. 그 결과 신갈나무에서 화합물 2(ellagic acid, 0.03 g), 4 ((+)-catechin, 4.59 g), 6 (taxifolin, 3.35 g) 및 7 (glucodistylin, 20.52 g)을 상수리 나무에서는 화합물 1 (gallic acid, 0.18 g), 4 ((+)-catechin, 8.52 g), 5 ((+)-gallocatechin, 0.09 g), 6 (taxifolin, 0.54 g) 및 7 (glucodistylin, 3.28 g)을 떡갈나무에서는 화합물 1 (gallic acid, 0.38 g), 2 (ellagic acid, 0.11 g) 4 ((+)-catechin, 2.01 g), 5 ((+)-gallocatechin, 0.12 g) 및 7 (glucodistylin, 0.39 g)을 갈참나무에서는 2 (ellagic acid, 1.51 g), 4 (+)-catechin, 21.91 g) 및 7 (glucodistylin, 3.91 g)을 졸참나무에서는 2 (ellagic acid, 0.84 g), 4 ((+)-catechin, 0.82 g), 6 (taxifolin, 4.02 g) 및 7 (glucodistylin, 21.50 g)을 굴참나무에서는 1 (gallic acid, 0.24 g), 3 (caffeic acid, 0.05 g), 4 ((+)-catechin, 0.32 g) 및 7 (glucodistylin, 0.65 g)을 분리하여 구조를 규명하였다. 국내산 참나무속 6 수종의 수피에서는 화합물 4 ((+)-catechin)와 7 (glucodistylin) 이 공통적으로 분리되었으며 두 성분 중 함유량이 상대적으로 높은 glucodistylin은 참나무류 수피의 지표성분 으로 이용될 수 있을 것이다.

• Journal of Ecology and Environment
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• 제30권1호
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• pp.63-68
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• 2007

Litter production, nutrient contents of each component of litterfall and amount of nutrients returned to forest floor via litterfall were investigated from May 2005 through April 2006 in Quercus mongolica, Quercus variabilis and Pinus densiflora forests at Mt. Worak National Park. Total amount of litterfall during one year in Q. mongolica, Q. variabilis and P. densiflora forests was 542.7, 459.2 and $306.9\;g\;m^{-2}\;yr^{-1}$, respectively. Of the total litterfall, leaf litter, branch and bark, reproductive organ and the others occupied 50.3%, 22.7%, 10.1 % and 16.9% in Q. mongolica forest, 81.9%, 7.2%, 3.1% and 7.9% in Q. variabilis forest, 57.4%, 12.8%, 5.6% and 24.1 % in P. densiflora forest, respectively. Nutrients concentrations in oak litterfall were higher than those in needle litter. N, P, K, Ca and Mg concentration in leaf litterfall were 13.8, 1.1, 7.2, 4.2 and 1.3 mg/g for Q. mongolica forest, 10.5, 0.7, 3.2, 3.7 and 1.6 mg/g for Q. variabilis forest, 5.3, 0.4, 1.2, 2.8 and 0.6mg/g for P. densiflora forest, respectively. The amount of annual input of N, P, K, Ca and Mg to the forest floor via litterfall was 43.36, 2.89, 21.38, 23.31 and $5.62\;kg\;ha^{-1}\;yr^{-1}$ for Q. mongolica forest, 32.28, 2.01, 10.23, 20.29 and $7.78\;kg\;ha^{-1}\;yr^{-1}$ for Q. variabilis forest, 15.80, 1.04, 3.99, 9.70 and $2.10\;kg\;ha^{-1}\;yr^{-1}$ for P. densiflora forest, respectively.

• 한국콘텐츠학회논문지
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• 제21권5호
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• pp.149-156
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• 2021

본 연구는 4차 산업혁명시대를 맞이하여, '빅 데이터'라는 용어가 우리 일상에 활용 및 논의되면서, 과연 빅데이터에 대하여 어떻게 생각하고 있는가에 대한 질문에서 출발하였다. 분석을 위하여, 빅 데이터 관련 선행연구를 바탕으로 최종 30개의 Q표본을 선정하고, 응답자 23명을 확보하여 Q분석을 실시하여, 다음과 같은 결과를 도출하였다. 첫째, 각 유형별 설명력은 <유형 I>은 34.30%, <유형 II>는 8.03%, <유형III>은 7.21%, <유형IV>는 6.24%로 전체 55.69%의 설명력을 나타냈다. 둘째, <유형I>은 다양한 직업분포를 나타내고 있으며, '빅 데이터'에 대해서는 '디지털', '미래'. '통계분석', '인공지능' 등의 진술문을 강조하고 있어, 「디지털형」으로 명명하였다. <유형 II>는 '사회복지사'의 분포가 많고, '빅 데이터'는 '미래', '협업', '복지', '지역주민' 등을 강조하여, 「복지형」으로 명명하였다. <유형III>은 응답자의 직업분포가 고르게 나타났고, '융합', '디지털', '미래', '스포츠' 등의 진술문을 강조하고 있어, 「융합형」으로 명명하였다. <유형 IV>는 협회관계자, 스포츠강사 및 대학원생 응답자로, '인공지능', '뉴 패러다임', '네트워크', '스포츠' 등을 강조하고 있어, 「인공지능형」으로 명명하였다. 산업화, 정보화에 이어진 지식산업화 및 지식정보화시대에는 그 동안 쌓아온 수많은 데이터를 어떻게 잘 가공하여 활용할 것인가가 중요한 과제가 아닐 수 없다. 바로 지금은 스포츠에서도 그 동안 축적된 빅 데이터의 활용과 활성화 방안 모색이 이루어져야 할 것이다.

• Clinical and Experimental Pediatrics
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• 제60권9호
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• pp.282-289
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• 2017

Purpose: Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH) and the clinical features of 27 patients with global developmental delay. Methods: We included 27 children who fulfilled the following criteria: Korean children under 6 years with global developmental delay; children who had at least one or more physical or neurological problem other than global developmental delay; and patients in whom both array CGH and G-banded karyotyping tests were performed. Results: Fifteen male and 12 female patients with a mean age of $29.3{\pm}17.6months$ were included. The most common physical and neurological abnormalities were facial dysmorphism (n=16), epilepsy (n=7), and hypotonia (n=7). Pathogenic copy number variation results were observed in 4 patients (14.8%): 18.73 Mb dup(2)(p24.2p25.3) and 1.62 Mb del(20p13) (patient 1); 22.31 Mb dup(2) (p22.3p25.1) and 4.01 Mb dup(2)(p21p22.1) (patient 2); 12.08 Mb del(4)(q22.1q24) (patient 3); and 1.19 Mb del(1)(q21.1) (patient 4). One patient (3.7%) displayed a variant of uncertain significance. Four patients (14.8%) displayed discordance between G-banded karyotyping and array CGH results. Among patients with normal array CGH results, 4 (16%) revealed brain anomalies such as schizencephaly and hydranencephaly. One patient was diagnosed with Rett syndrome and one with $M{\ddot{o}}bius$ syndrome. Conclusion: As chromosomal microarray can elucidate the cause of previously unexplained developmental delay, it should be considered as a first-tier cytogenetic diagnostic test for children with unexplained developmental delay.

• Asian Pacific Journal of Cancer Prevention
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• 제13권11호
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• pp.5391-5397
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• 2012

Background: Neuroblastoma (NB), like most human cancers, is characterized by genomic instability, manifested at the chromosomal level as allelic gain, loss or rearrangement. Genetics methods, as well as conventional and molecular cytogenetics may provide valuable clues for the identification of target loci and successful search for major genes in neuroblastoma. We aimed to investigate AURKA and MYCN gene rearrangements and the chromosomal aberrations (CAs) to determine the prognosis of neuroblastoma. Methods: We performed cytogenetic analysis by G-banding in 25 cases [11 girls (44%) and 14 boys (66%)] and in 25 controls. Fluorescence in situ hybridization (FISH) with AURKA and MYCN gene probes was also used on interphase nuclei to screen for alterations. Results: Some 18.4% of patient cells exhibited CAs., with a significant difference between patient and control groups in the frequencies (P<0.0001). Some 72% of the cells had structural aberrations, and only 28% had numerical chnages in patients. Structural aberrations consisted of deletions, translocations, breaks and fragility in various chromosomes, 84% and 52% of the patients having deletions and translocations, respectively. Among these expressed CAs, there was a higher frequency at 1q21, 1q32, 2q21, 2q31, 2p24, 4q31, 9q11, 9q22, 13q14, 14q11.2, 14q24, and 15q22 in patients. 32% of the patients had chromosome breaks, most frequently in chromosomes 1, 2, 3, 4, 5, 8, 9, 11, 12, 19 and X. The number of cells with breaks and the genomic damage frequencies were higher in patients (p<0.001). Aneuploidies in chromosomes X, 22, 3, 17 and 18 were most frequently observed. Numerical chromosome abnormalities were distinctive in 10.7% of sex chromosomes. Fragile sites were observed in 16% of our patients. Conclusion: Our data confirmed that there is a close correlation between amplification of the two genes, amplification of MYCN possibly contributing significantly to the oncogenic properties of AURKA. The high frequencies of chromosomal aberrations and amplifications of AURKA and MYCN genes indicate prognostic value in children with neuroblastomas and may point to contributing factors in their development.