• 제목/요약/키워드: Deletion

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비교유전자교잡법을 이용한 대장암환자에서의 유전자변화 (Genetic Change from Colorectal Carcinoma Patients Using Comparative Genomic Hybridization)

  • 이재식
    • 대한임상검사과학회지
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    • 제47권4호
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    • pp.209-215
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    • 2015
  • 대장암은 우리나라에서 많이 발병하는 4대 암의 하나로써, 경제적인 발전을 통한 생활양식의 서구화 등으로 인해 매년 증가 추세에 있다. 따라서 대장암의 다양한 진단방법이 요구되고 있으며, 새로운 진단방법으로 가능한 Comparative Genomic Hybridization 실험을 하였다. 실험결과 Deletion은 5q (10%), 10q (17%), 17p (40%), 18p (23%), 18q (47%), 22q (23%)이며, 가장 많은 빈도로 관찰된 것은 18q, 17p, 22q로서 18q에서 47% (14/30)가, 17p에서 40% (12/30)가, 22q에서 23% (7/30)가 관찰되었다. Amplification은 염색체 6pq (10%), 7p (17%), 7q (33%), 8q (13%), 9pq (10%), 12q (17%), 13q (37%), 20p (23%), 20q (57%)부분에서 증폭이 보여졌다. 가장 많은 빈도로 관찰된 것은 20q, 13q, 7q로서 20q에서 57% (17/30)가, 13q에서 37% (11/30)가, 7q에서 33% (10/30)가 관찰되었다. 대장암의 위치에 따른 유전자 변이 양상은 우측 대장암이 평균 3.1개(증폭 1.7개, 결실 1.4개)인데 반해, 직장암은 평균 6.3개(증폭 3.7개, 결실 2.6개)로서 높았다(p<0.001). 림프절 전이에 따른 유전자 변이 양상은 전이가 없는 군에서는 평균 3.5개(증폭 2.2개, 결실 1.3개)인데 반해, 림프절 전이가 있는 군은 평균 6.3개(증폭 3.5개, 결실 2.8개)로서 높았다(p<0.003). 병기별에 따른 유전자 변이 양상은 I~II병기에서는 평균 3.5개(증폭 2.1개, 결실 1.4개)인데 반해, III~IV병기에서는 평균 6.0개(증폭 3.4개, 결실 2.6개)로서 높았다(p<0.006). 조직학적 분류에 따른 비교와 혈청 CEA 증가군에 대한 비교는 큰 차이가 없었다.

한국인에서 Endothelial Nitric Oxide Synthase 유전자의 Insertion/Deletion Polymorphism의 분포 (The Distribution of the Insertion/Deletion Polymorphism of the Endothelial Nitric Oxide Gene in Koreans)

  • 김선정;강병용;배준설;김기태;이강오
    • 한국환경성돌연변이발암원학회지
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    • 제22권3호
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    • pp.183-186
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    • 2002
  • Hypertension is a multifactorial disease. Both genetic and environmental factors have been implicated in its etiology. Since the impairment of nitric oxide (NOS) production plays an important role in the pathogenesis of hypertension, endothelial nitric oxide synthase (ecNOS) gene is supposed to be a candidate gene of hypertension. Our study group investigated the 27 bp insertion/deletion (Ins/Del) polymorphism of ecNOS gene in 99 Korean normotensives and 98 hypertensives, respectively. There was no significant association with any cardiovascular risk factors as well as hypertension in Koreans. The Ins/Del polymorphism of the ecNOS gene indicated the similar allele distribution among ethnic groups studied. Further studies using larger sample size and subject information is required to describe the general picture of the association between the ecNOS gene polymorphic loci and hypertension

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The Phonetic Realization of High Tone in North Kyungsang Korean

  • Chang, Woo-Hyeok
    • 음성과학
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    • 제11권3호
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    • pp.37-54
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    • 2004
  • The main goal of this study is to examine the current issue of the deletion of high tone vs. the downstep or upstep of high tone in North Kyungsang Korean (NKK). In this phonetic experiment, five native speakers of North Kyungsang Korean participated and two categories, such as compounds and two-word phrases were included as a test material. This experiment shows that when the first word belongs to the nonfinal class, the high tone of the second word is overwhelmingly deleted. When the first word belongs to the final class, the high tone of it is also overwhelmingly deleted. It is thus concluded that when two words are combined into a phrase, the peak of one word retains, whereas the peak of the other is deleted. It is confirmed that a single high tone prominence in a phonological phrase in NKK is not due to the processes of down step or upstep but the deletion process.

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Analysis of Mitochondrial DNA Mutation in hepatoma

  • Chung, Ku-Sun;Lee, Kyo-Young;Shim, Sang-In;Kim, Jin-Sun;Song, Eun-Sook
    • BMB Reports
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    • 제33권5호
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    • pp.417-421
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    • 2000
  • Mitochondrial DNA (mtDNA) mutation was investigated in a hepatoma patient using a polymerase chain reaction (PCR) and an in situ hybridization technique. Biotin-labeled probes for the subunit m of cytochrome c oxidase revealed differences in the in situ hybridization. A PCR assay using biopsied and microdissected tissues showed that common deletion (4,977 bp) was more pronounced in the cancer region than in the normal parts of the same patient. These results suggest that mtDNA deletion might be associated with tumorigenesis in hepatoma.

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Multiple Age-Associated Mitochondrial DNA Deletions in Mouse Brain

  • Kim, Jin-Sun;Kim, Min-Jung;Kwon, In-Sook;Song, Eun-Sook
    • BMB Reports
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    • 제30권1호
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    • pp.33-36
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    • 1997
  • Age-dependent deletion of mitochondrial DNA (mtDNA) was detected in mouse brain using PCR method. The size of the deleted fragment was 0.5 kb, 0.9 kb. 1.7 kb and 4.3 kb in the region between cytochrome b gene and ATPase 6 gene. The deleted fragment was increased gradually from 3-month to 22month Direct repeat sequence flanking the deletion in 0.5 kb PCR product was TAAT.

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MULTIPLE DELETION MEASURES OF TEST STATISTICS IN MULTIVARIATE REGRESSION

  • Jung, Kang-Mo
    • Journal of applied mathematics & informatics
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    • 제26권3_4호
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    • pp.679-688
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    • 2008
  • In multivariate regression analysis there exist many influence measures on the regression estimates. However it seems to be few of influence diagnostics on test statistics in hypothesis testing. Case-deletion approach is fundamental for investigating influence of observations on estimates or statistics. Tang and Fung (1997) derived single case-deletion of the Wilks' ratio, Lawley-Hotelling trace, Pillai's trace for testing a general linear hypothesis of the regression coefficients in multivariate regression. In this paper we derived more extended form of those measures to deal with joint influence among observations. A numerical example is given to illustrate the effect of joint influence on the test statistics.

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양순음 후행 양순전이음 /w/의 음향음성학적 연구 (An Acoustical Study of Labiovelar Glide /w/ Followed by Labials)

  • 구희산;한혜승
    • 음성과학
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    • 제6권
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    • pp.45-54
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    • 1999
  • The well-known tendency to delete the labiovelar glide /w/ in some special conditions in Korean was based on perceptual judgment. Among the studies which tried to identify this phenomenon, Silva(1991) and Kang(1997) discovered the important factors of /w/-deletion and tried to give phonological explanations in terms of the Obligatory Contour Principle (McCarthy 1986). This study uses acoustic experiments in order to examine the reality of this phenomenon and tries to explain it on the basis of spectrographic analysis. According to the experiment, it is observed that /w/ is neutralized rather than completely deleted. Therefore, this observation suggests that this phenomena be considered as the /w/-neutralization in the view of acoustic study, instead of the /w/-deletion.

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Identification of a Regulatory Element Required for 3’-End Formation in Transcripts of rhp51$^+$, a recA Homolog of the Fission Yeast Schizosaccharomyces pombe

  • Yeun Kyu Jang
    • Animal cells and systems
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    • 제3권4호
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    • pp.413-415
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    • 1999
  • Our previous report demonstrated that the rhp51$^+$, a recA and RAD51 homolog of the fission yeast, encodes three transcripts of 1.9, 1.6 and 1.3 kb which have at least six polyadenylation sites. The 3'-end of the gene alone can direct the formation of multiple, discrete 3'ends of the transcripts. To identify the regulatory element required for the 3'-end formation of -rhp51$^+$ deletion mapping analysis was performed. Northern blot analysis revealed that the 254-bp DNA fragment including 4 distinct poly (A) sites downstream from the Hindlll site, is crucial for normal 3'-end formation. Deletion of the 3'-terminal AU rich region caused appearance of read-through RNA, leading to enhancement of survival rate of the rhp51 deletion mutant in response to DNA damaging agent, methylmethane sulfonate (MMS). The results imply that the rhp51$^+$ system may be useful for molecular analysis of the 3'-end formation of RNA in the fission yeast.

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Obligatory Control and Coordinated Deletion as Korean Subject Diagnostics: An Experimental Approach

  • Kim, Ji-Hye;Lee, Yong-hun;Kim, Eunah
    • 한국언어정보학회지:언어와정보
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    • 제19권1호
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    • pp.75-101
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    • 2015
  • This study investigated the distribution of subject properties in Korean. Based on the previous studies on so-called 'subjecthood diagnostics' in Korean Multiple Subject Constructions (MSCs), the current study investigates how different subject properties are distributed in single subject constructions (Non-MSCs) and MSCs. Focusing on two distinct subject properties - obligatory control (OC) of PRO and coordinated deletion (CD) - an empirical syntactic experiment was designed to test how these two subjecthood diagnostics behave in the Non-MSC and MSC environments. Seventy Korean native speakers were tested over magnitude estimation task, composed of 80 Korean sentences representing different subject properties in single or multiple subject constructions. Overall results showed (i) both OC and CD can be used as subjecthood diagnostic tests in the Non-MSC environments, but (ii) that only OC can be used as a subjecthood diagnostic test in the MSC environments.

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Operon Required for Fruiting Body Development in Myxococcus xanthus

  • Kim, Do-Hee;Chung, Jin-Woo;Hyun, Hye-Sook;Lee, Cha-Yul;Lee, Kyoung;Cho, Kyung-Yun
    • Journal of Microbiology and Biotechnology
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    • 제19권11호
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    • pp.1288-1294
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    • 2009
  • We have used mutational analysis to identity four genes, MXAN3553, MXAN3554, MXAN3555, and MXAN3556, constituting an operon that is essential for normal fruiting body development in Myxococcus xanthus. Deletion of MXAN3553, which encoded a hypothetical protein, resulted in delayed fruiting body development. MXAN3554 was predicted to encode a metallopeptidase, and its deletion caused fruiting body formation to fail. Inactivation of MXAN3555, which encoded a putative NtrC-type response regulator, resulted in delayed aggregation and a severe reduction in sporulation. Fruiting bodies also failed to develop with the deletion of MXAN3556, another gene encoding a hypothetical protein.