• Clinical and Experimental Pediatrics
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• 제46권8호
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• pp.831-835
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• 2003

저자들은 특징적인 안면 기형과 발열이 있는 semilobar type의 holoprosencephaly 환아에서 국내에서는 보고된 바 없는 염색체 검사상 21번 염색체 단체성이 동반된 holoprosencephaly 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• Journal of Plant Biology
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• 제33권4호
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• pp.237-242
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• 1990

Geographical distribution of diploid plant with AA genome (2n=16) and allotetraploid with AABB genome (2n=34) of Scilla scilloides Complex from Korea has been studied. The composition and frequencies of B chromosomes ere also investigated. Plants with AABB genome were predominant over AA genome plants. A mixed population of AA and AABB genome plants was found for the first time. Aneuploid plants have not been found. Chromosomes of AA genome were composed of three pairs of metacentric, two pairs of submetacentric, two pairs of subtlocentric and one pair of telocentric chromosomes, whereas BB genome was four pairs of metacentric and five pairs of subtelocentric chromosomes. B chromosomes were classified into two categories, isochromosome (F) and chromosome fragment (f). The frequencies of B chromosomes were 43% in AA genome plants and 44% in AABB genome plants. The number of B chromosome ranged from 1 to 3 and 1 to 7 in AA and AABB genome plants, respectively. B chromosome combinations were F and F+f in AA genome plants and F, F+f and f in AABB genome plants.

• 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.

• 한국산업보건학회지
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• 제5권1호
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• pp.40-47
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• 1995

We analyzed sytrene concentrations in air and in blood, mandelic acid in urine, and chromosome aberrations in peripheral lymphocytes of twenty one styrene-exposed workers in two reinforced plastic factories. In addition, in vitro testing for chromosome aberration was carried out. The dose-dependent clastogenicity of styrene was confirmed in the cultured Chinese hamster lung cell(CHL) with metabolic activation. The environmental styrene concentrations and urinary mandelic acid levels of analyzed subjects were different in two plants examined, but the exposure levels in most workers examined were lower than the permissible exposure levels. Chromosome aberrations of the styrene exposed workers showed no increase in the percentage of aberrant cells as compared with the control group. No correlation was found between the exposure levels and the frequencies of chromosome aberrations in workers.

• Toxicological Research
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• 제33권4호
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• pp.315-323
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• 2017

Preconceptual sex selection is still a highly debatable process whereby X- and Y-chromosome-bearing spermatozoa are isolated prior to fertilization of the oocyte. Although various separation techniques are available, none can guarantee 100% accuracy. The aim of this study was to separate X- and Y-chromosome-bearing spermatozoa using methods based on the viability difference between the X- and Y-chromosome-bearing spermatozoa. A total of 18 experimental semen samples were used, written consent was obtained from all donors and results were analysed in a blinded fashion. Spermatozoa were exposed to different pH values (5.5, 6.5, 7.5, 8.5, and 9.5), increased temperatures ($37^{\circ}C$, $41^{\circ}C$, and $45^{\circ}C$) and ROS level ($50{\mu}M$, $750{\mu}M$, and $1,000{\mu}M$). The live and dead cell separation was done through a modified swim-up technique. Changes in the sex-chromosome ratio of samples were established by double-label fluorescent in situ hybridization (FISH) before and after processing. The results indicated successful enrichment of X-chromosome-bearing spermatozoa upon incubation in acidic media, increased temperatures, and elevated $H_2O_2$. This study demonstrated the potential role for exploring the physiological differences between X-and Y-chromosome-bearing spermatozoa in the development of preconceptual gender selection.

• 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.

• Mass Spectrometry Letters
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• 제12권3호
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• pp.60-65
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• 2021

As a part of the Chromosome-centric Human Proteome Project (C-HPP), we have developed a few algorithms for accurate identification of missing proteins, alternative splicing variants, single amino acid variants, and characterization of function unannotated proteins. We have found missing proteins, novel and known ASVs, and SAAVs using LC-MS/MS data from human brain and olfactory epithelial tissue, where we validated their existence using synthetic peptides. According to the neXtProt database, the number of missing proteins in chromosome 11 shows a decreasing pattern. The development of genomic and transcriptomic sequencing techniques make the number of protein variants in chromosome 11 tremendously increase. We developed a web solution named as SAAvpedia for identification and function annotation of SAAVs, and the SAAV information is automatically transformed into the neXtProt web page using REST API service. For the 73 uPE1 in chromosome 11, we have studied the function annotaion of CCDC90B (NX_Q9GZT6), SMAP (NX_O00193), and C11orf52 (NX_Q96A22).

• 한국버섯학회지
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• 제12권1호
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• pp.63-66
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• 2014

한국에서 개발된 팽이버섯 균주 Fv 3-6과 일본에서 수집한 팽이버섯 균주 Fv 0-1, Fv 1-5 및 Fv 11-4의 핵형을 CHEF gel electrophoresis 방법으로 분석 하였다. 그 결과 4종류의 균주 모두 chromosome의 전체 길이가 달랐으며, chromosome의 개수 또는 특정 chromosome의 길이가 다른 것을 확인하였다. 특히 Fv 3-6의 경우에는 다른 3 종의 균주와 비교했을 때 Fv 0-1, Fv 11-4 보다는 2개의 chromosome이 더 존재하였고 Fv 1-5 보다는 1개의 chromosome이 더 존재하였으며 핵형패턴이 유사한 일본 수집 균주들과는 다른 핵형패턴을 나타내었다. 이러한 CHEF gel electrophoresis 방법은 품종간의 차이를 SSR이나 ITS 정보를 이용한 방법보다 더 정확하게 구분할 수 있을 것이라고 생각한다.

• Genomics & Informatics
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• 제3권4호
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• pp.154-158
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• 2005

Germ-line mutations of the BRCA1 gene confer an increased risk for breast and ovarian cancers. BRCA1 in female cells is directly related with the maintenance of the inactive X chromosome (Xi). The effect by the loss of the BRCA1 function on the X chromosome gene expression remains unclear in cancer cells. We attempted to investigate the expression pattern of the X-linked genes by performing BRCA1 knockdown via RNA interference in the MCF7 breast cancer cell line. The transcriptional and translational levels of BRCA1 were decreased over 95% in the MCF7 cells after BRCA1 knockdown. The expression patterns of one hundred ninety X-linked genes were profiled by the X chromosome-specific cDNA arrays. A total of seven percent of the X-linked genes (14/190) were aberrantly expressed by over 2-fold in the MCF7-BRCA1 knockdown cells, which contained two up-regulated genes (2/190, 1 %) and 12 down-regulated genes (12/190, 6.3%). It is interesting that 72% of the aberrantly expressed X-linked genes were located on the Xq (10/14,) region. Our data suggests that BRCA1 may not be important to maintain X chromosome inactivation in cancer because the BRCA1 knockdown did increase the expression of the only one percent of X-linked genes in the human breast cancer cells.

• 대한의생명과학회지
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• 제15권4호
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• pp.363-368
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• 2009

One of the frequent occurrences in rearrangements is chromosome inversion. Pericentric inversion is considered to be the variant of normal karyotype. We investigated the karyotypes of 1195 cases being referred to prenatal diagnosis using standard GTG banding for karyotype preparation. The chromosomal analysis revealed a total of 15 (1.26%) inversions. The characteristics of inversion type [(inv(4), inv(8), inv(9), inv(11)) were investigated on the basis of chromosomal analyses of fetuses and their parents. The results from chromosomal examination of the parents, whose fetuses were diagnosed as inversion, show that either parent might be the carrier. Inversion in human chromosome is commonly seen in normal humans and the frequency estimated to be 1 to 2% in general population and the exact amount of this phenomenon is still unclear. These results indicate that inv(8), inv(9), and inv(11) are phenotypically normal. However these may often cause clinical problems in offspring of the carrier, such as fetal wastage repeated spontaneous abortions and infertility with unknown mechanisms related to sex. We describe an inversion of human chromosome and its clinical correlation with human genetic disease.