• 한국독성학회:학술대회논문집
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• 한국독성학회 2003년도 추계학술대회
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• pp.147-147
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• 2003

Human exposure to benzene is derived occupationally from the petrochemical and petroleum refining industries. This study was carried out to find whether the frequencies of chromosome aberrations in workers exposed to low level benzene in a petroleum factory were elevated compared to non-exposed workers.(omitted)

• 한국컴퓨터정보학회논문지
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• 제11권6호
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• pp.1-8
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• 2006

많은 연구자들이 자동 염색체 핵형 분류와 해석을 연구하고 있다. 현미경상의 이미지를 개개의 염색체로 자동 분류하기 위해서는 이미지 전처리 핵형 분류기 구현 등의 세부 절차가 필요하다. 이미지 전처리에서는 개개의 염색체 분리, 잡음 제거, 특징 파라미터 추출을 진행한다. 추출된 형태학적 특징 파라미터는 동원체 지수, 상대 길이비, 상대 면적비이다. 본 논문에서는 인간 염색체 핵형 분류를 위하여 퍼지 분류기가 사용되어졌다. 추출된 형태학적 특징 파라미터가 퍼지 분류기의 입력 파라미터로 사용되었다. 우리는 개개의 염색체 그룹에 대한 최적 퍼지 분류기를 위하여 멤버쉽 함수를 선택하는 것을 연구하였다.

• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.10-13
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• 2016

Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness, microtia (small ear) and small teeth, without the appearance of eye abnormalities, was also reported. In this report, we describe a 1-year-old girl presenting with ptosis of the left upper eyelid, right auricular deformity, high-arched palate, delayed dentition, simian line on the right hand, microcephaly, and developmental delay. In this patient, we identified a deletion in the chromosome 11q13.2-q13.3 (2.75 Mb) region by using an array-comparative genomic hybridization analysis. The deletion in chromosome 11q13 results in a syndrome characterized by variable clinical manifestations. Some of these manifestations involve craniofacial dysmorphology and require a functional workup for hearing, ophthalmic examinations, and long-term dental care.

• 생명과학회지
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• 제11권3호
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• pp.279-283
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• 2001

Amyotrophic lateral sclerosis(ALS) is a progressive neurologic disorder resulting from the degeneration of upper and lower motor neurons, and is inherited in 10% of cases. About 20% of familial ALS, clinically indistinguishable from sporadic ALS, is caused by mutations of Cu/Zn superoxide dismutase on chromosome 21q22.21 inherited as an autosomal dominant trait. We now report a new locus in the non-SOD1 dominantly inherited ALS. We screened a large ALS family with 11 affected individuals and one obligate gene carrier with genome-wide ABI polymorphic markers using the ABI 377 automated system. No evidence of linkage was obtained with the autosomal markers. We next screened this family with X chromosome markers as there was no evidence of male-to-male tran-smission of the disease. Linkage was established with several X chromosome markers with a lod score up to 3.8; almost the maximum possible score in this family. Our finding imply that a gene for the dominant expression of a neuronal degeneration is coded on X chromosome and raise the question of the role of X-linked genes that escape inactivation in this pathogenesis. More importantly, our finding that a gene causing ALS is localized on X-chromosome has direct investigational relevance to sporadic ALS, where epidemiological studies show male gender predominance(1.3:1) and earlier onset in men by 5-10 years.

• Molecules and Cells
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• 제26권4호
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• pp.356-361
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• 2008

In this work, we have studied the structural and functional linkage between lamin A/C, nuclear actin, and organization of chromosome territories (CTs) in mammary carcinoma MCF-7 cells. Selective down-regulation of lamin A/C expression led to disruption of the lamin A/C perinuclear layer and disorganization of lamin-bound emerin complexes at the inner nuclear membrane. The silencing of lamin A/C expression resulted in a decrease in the volume and surface area of chromosome territories, especially in chromosomes with high heterochromatin content. Inhibition of actin polymerization led to relaxation of the structure of chromosome territories, and an increase in the volumes and surface areas of the chromosome territories of human chromosomes 1, 2 and 13. The results show an important role of polymeric actin in the organization of the nuclei and the chromosome territories.

• 한국동물학회지
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• 제13권1호
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• pp.29-33
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• 1970

한국부인의 子宮癌細胞에 관한 본 연구결과는 다음과 같다. 1. 種族細胞의 染色體數는 45와 46의 2종류임을 확인했다. 2. 染色體 형태에 있어서 diplochromosome 의 출현율이 높아 5.3%을 나타낸다. 染色體 異常率은 細胞당 0.16이고, 異常型으로는 染色分體缺矢, 同位染色分體缺矢의 染色分體異常型과 2動原體인 染色體異常型이 보였다. 3. 核型을 분석한 결과 전체로는 그르프 F의 染色體數의 증가와 그르프 B 및 E의 감소경향을 보여주었다. 이것이 低2倍性인 細胞에서는 그르프C 및 G에서 감소하고, 반대로 高2倍性에서는 그르프C 및 G에서 증가하는 경향이 있었다.

• 한국환경성돌연변이발암원학회지
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• 제25권4호
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• pp.150-156
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• 2005

Analysis of chromosome aberration (CA) and cytokinesis-block micronucleus (CBMN) assay in peripheral lymphocytes of nurses exposed to low levels of anticancer drug and Ethylene Oxide(EO) gas in a hospital were performed. The frequency of CA was increased in the exposed compared to the controls whereas no increase of the frequency of MN was found. The frequencies of chromatid type CA were 1.2, 3.91 and 9.67 per 500 cells in the controls, workers exposed to anticancer drug and workers exposed to EO, respectively. Lower frequency of CA in nurses handling anticancer drugs with safety covers compared to those without safety covers was observed, but it was not statistically significant. The frequency of CA in nurses handling anticancer drugs increased by the frequency of mixing anticancer drugs. Poisson regression analysis showed a significant association of the frequency of chromatid type CA with age, duration of wort exposure to anticancer drug and EO gas exposure, but no association of the frequency of chromosome type CA with any variables. The results suggested that there were associations between CA and the occupational exposure to low levels of anticancer drug and EO gas.

• 한국가금학회지
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• 제14권2호
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• pp.89-96
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• 1987

본 연구에서는 가금에 있어 세포유전학적 방법을 이용하여 닭 염색체의 분리방법과 G, C-banding에 의한 분염분석 방법을 재고하여 보다 명확한 염색체의 형태적 양상을 제시하였다. 염색체의 분리는 성장중인 초기배아를 이용하므로써 유사분열 중기상을 쉽게 포악할 수 있었으며, 성장 4-5일째의 배아조직으로부터 염색체의 분리는 다소 불편함이 많았다. 가금에 있어 염색체 분리기술중 가장 중요한 것으로 적합한 sample의 채취와 적절한 중기상의 유도, hypotonic 처리에 따른 뚜렷한 형태의 유도, 도말방법 및 염색의 처리과정이다. 또한 보다 명확한 염색체의 분석을 위하여서는 중기 분열상중 초기 중기 상태의 상을 포착함이 바람직하다. G. C-banding 처리를 위해서는 공히 충분하고도 완전히 건조된 air-dried prepration된 sample을 이용하여야 바람직한 결과를 얻을 수 있으며, slide의 보존시간에 따라 band 양상에 많은 차이를 나타낸다. G-banding 양상에 크게 영향하는 요인으로서는 trypsin의 농도, 처리시간, 처리온도가 주된 작용을 하고, Giemsa solution에 사용하는 buffer의 pH도 크게 작용하는 것으로 나타났다. C-banding에 있어서는 Ba(OJ)$_2$의 농도 처리시간, 처리온도가 큰 영향을 미친 바 다소 짧은 시간의 처리가 바람직한 양상을 보이고, 처리전 HCl 처리로서 세포들의 균일성을 가하고, 처리후 철저한 수세가 좋은 결과를 나타내었다. Band 양상의 보다 정확한 해석을 위해서는 densitometer를 이용하므로써 구체적 양상을 분석할 수 있었다.

• Communications for Statistical Applications and Methods
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• 제13권3호
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• pp.525-535
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• 2006

We describe tests for detecting and locating quantitative traits loci (QTL) for traits in Hanwoo. Lod scores and a permutation test have been described. From results of a permutation test to detect QTL, we select major DNA markers of ILSTS098 microsatellite locus in Hanwoo chromosome 2 for further analysis. K-means clustering analysis applied to four traits and eight DNA markers in ILSTS098 resulted in three cluster groups. We conclude that the major DNA markers of BMS1167 microsatellite locus in Hanwoo chromosome 2 are markers 105bp, 113bp and 115bp. Finally, bootstrap testing method has been adapted to calculate confidence intervals and for finding major DNA Markers.

• 한국약용작물학회지
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• 제26권2호
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• pp.113-118
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• 2018

Background: Gastrodia elata Blume is a saprophytic perennial plant in the Orchidaceae family, because of its agricultural and medicinal effectiveness, researchers focus on its genome and chemical components. However, cytogenetic information based on the chromosome structure and composition to construct chromosomal backbone for genome sequencing research and for the development and breeding of plants is very limited. Methods and Results: We determined the metaphase chromosome composition of the G. elata genome by fluorescence in situ hybridization (FISH) using 5S and 45S rDNAs and telomeric repeat probes. The nuclear genome of G. elata was organized into 2 n = 36, with relatively small ($2.71-5.50{\mu}m$)chromosomes that showed gradual decrease in size. Conglutination phenomenon was observed among the metaphase chromosomes, and it was distinguished from that in other plant metaphase chromosome spreads. One pair of signal was detected for each 5S and 45S rDNA in the pericentromeric region and interstitial region on the short arm of chromosomes 10 and 4, respectively, and telomeric DNA signals were detected in the terminal region of most chromosomes. Conclusions: To our knowledge, this is the first FISH chromosome composition result in G. elata and could be useful in more comprehensive molecular cytogenetic and genomic analyses as well as breeding programs of the medicinal plant G. elata.