• 한국지능정보시스템학회:학술대회논문집
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• 한국지능정보시스템학회 2001년도 춘계정기학술대회
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• pp.215-222
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• 2001

The task for chromosome analysis and diagnosis by experienced cytogenetists are being concerned as repetitive, time consuming job and expensive. FOr that reason, chromosome analysis system based on knowledge base for CAI had been established to be able to analyze chromosomes and obtain necessary advises from the knowledge base instead of human experts. That s to say, knowledge base by IF THEN production rule was implemented to a knowledge domain with normal and abnormal chromosomes, and then the inference results by knowledge base could enter the inference data into the database. Experimental data were composed of normal chromosome of 2,736 patients'cases and abnormal chromosomes of 259 patients'cases that have been obtained from GTG-banding metaphase peripheral blood and amniotic fluid samples. The complete system provides variously morphological information by analysis of normal or abnormal chromosomes and it also has the advantage of being able to consult with user on chromosome analysis and diagnosis.

• Journal of Interdisciplinary Genomics
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• 제6권1호
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• pp.1-5
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• 2024

Chromosome 22 is an acrocentric chromosome containing 500-600 genes, representing 1.5%-2% of the total DNA in cells. It was the first human chromosome to be fully sequenced by the Human Genome Project. Several syndromes involving the partial deletion or duplication of chromosome 22 are well descibed, including 22q11.2 deletion syndrome, 22q11.2 duplication syndrome, 22q11.2 distal deletion syndrome, Phelan-McDermid syndrome caused by a 22q13 deletion or pathogenic variant in SHANK3, and cat-eye syndrome caused by a 22 pter-q11 duplication. This review aims to provide concise information on the clinical characteristics of these syndromes. In particular, the similarities in features among these syndromes, genetic basis, and standard detection techniques are described, providing guidance for diagnosis and genetic counselling.

• Clinical and Experimental Reproductive Medicine
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• 제27권4호
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• pp.405-415
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• 2000

Objective: The present study was undertaken to synthesize a human Y chromosome specific probe and to confirm the usefulness of the probe for fluorescence in situ hybridization (FISH) in various types of human cells. Methods: An approximately 400 bp DNA fragment of the DYZ1 sequences was synthesized by PCR using digoxigenin labeled dUTP (dig-PCR). The fidelity of probe was tested by FISH for cultured and uncultured human lymphocytes, amniocytes, chorionic villus cells, embryos, sperms, and germ cells of seminiferous tubule. Results: The human Y chromosome specific probe hybridized specifically to Y chromosome of the cells that had been tested. This probe assigned to the Yq12 region where the DYZ1 repetitive sequence is concentrated. Conclusion: We have identified a human Y chromosome specific probe that hybridized specifically to the Y chromosome by FISH for various types of uncultured as well as cultured cells. Therefore FISH technique using human Y chromosome specific probe should be useful for clinical application as a diagnostic tool for the detection of human Y chromosome.

• 한국시뮬레이션학회논문지
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• 제26권4호
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• pp.1-9
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• 2017

유전 알고리즘은 생물 유전학에 기본 이론을 두는 전역 탐색 알고리즘으로, 산업, 뉴럴 네트워크, 웹, 그리고 국방 등의 분야에서 활발히 사용되고 있다. 하지만 기존의 유전 알고리즘은 염색체의 개수가 고정되어 있는 형태여서 시뮬레이션 도중 초기에 주어진 상황보다 더 복잡한 상황이 주어질 수 있는 경우에는 적용이 힘들다는 한계점이 존재한다. 본 연구에서는 이를 극복하기 위해서 염색체 비분리를 적용한 가변 염색체 유전 알고리즘을 제안하였다. 그리고 염색체 수의 변화가 시뮬레이션 결과에 영향을 미치는 것을 확인하기 위하여 대 잠수함 HVU 호위 임무 시뮬레이션에 염색체 비분리를 적용한 가변 염색체 유전 알고리즘을 적용하였다. 시뮬레이션 결과 기존의 유전 알고리즘과는 달리 가변 염색체 유전 알고리즘에서는 더 복잡한 전술이 더 일찍 등장하였으며, 그에 따라 염색체 수가 증가하는 방향으로 진화가 일어나는 것을 확인할 수 있었다.

• 한국정보통신학회논문지
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• 제7권4호
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• pp.839-844
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• 2003

본 연구에서는 염색체의 영상패턴을 인식하고 분류하는 방법을 개선하기 위해 패턴인식의 특징정보로 사용되는 비선형적인 염색체 영상을 선형적으로 재구성하는 영상 재구성 알고리즘을 사용하여 선형화된 특징정보를 추출하여 패턴분류기인 신경회로망의 입력정보로 사용한다. 중앙축 변환방법과, 영상 재구성방법을 사용하여 임상적으로 정상인으로 판명된 20명의 염색체 영상의 특징정보를 추출하였다. 중앙축 변환방법에 의하여 추출된 특징정보의 패턴조합과 영상 재구성방법에 의하여 추출된 특징정보의 패턴조합을 구성하였으며, 10명에 대하여 추출한 특징정보를 계층적인 신경회로망(Hierarchical Multilayer Neural Network : HMNN)의 학습입력으로 사용하여 염색체를 분류하기 위한 패턴인식기를 구현하였다. 그리고 나머지 10명에 대하여 학습입력과 동일하게 조합된 패턴조합을 HMNN의 분류입력으로 사용하여 수행한 결과 약 98.26%의 우수한 인식률을 나타내는 최적화된 패턴인식기를 구현할 수 있었다.

• 생명과학회지
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• 제12권5호
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• pp.605-609
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• 2002

개의 염색체수는 2n=78이며 염색체의 형태를 보면 submetacentric chromosome metacentric chromosome인 X와 Y를 제외하고 모든 상염색체가 acrocentric chromosome이며 그 크기가 작고 크기의 차이가 나지 않는 염색체들이 많아 G-banding등에 의한 핵형의 표준화가 완전하게 이루어지고 있지 않다. 본 연구fl서는 G-banding high-resolution-banding NOR- banding등의 방법을 이용하여 개의 미소 염색체들에 대한 핵형 및 염색체 동정을 하고자 하였다. C-banding과 high-resolution banding에 의한 그 결과 아직 표준화가 되어 있지 않은 염색체 중 34번, 37번 등의 염색체에서 본 연구 결과가 차이가 있었으나 이는 해석상의 차이로 보이며 NOR-banding에 의한 분석결과 Y염색체와 3쌍의 상염색체에서 존재함을 확인 할 수 있었고 이는 개의 염색체 동정의 지표로 활용할 수 있으리라고 생각된다.

• 한국가금학회지
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• 제46권4호
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• pp.287-296
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• 2019

Avian sex determination system involves the male ZZ and female ZW chromosomes. However, very few studies are reported the expression, functional role and importance of genes on the W chromosome because of its small and highly heterochromatic genomic regions. Recent studies demonstrated that the W chromosome may have critical roles in physiology, sex determination and subsequent sexual differentiation in chickens. Therefore, gene annotation, including describing the expression and function of genes in the chicken W chromosome, is needed. In this study, we have searched the W chromosome of chickens and selected a total of 36 genes to evaluated their specific expression in the testis and ovary at various developmental stages such as embryonic day 6 (E6), hatch and adult. Interestingly, out of 36 genes in chicken W chromosome, we have found seven female-specific expression at E6.5 day, indicating that they are functionally related to female chicken gonadal differentiation. In addition, we have identified the stage specific gene expression from the sex specific genes. Furthermore, we analyzed the relative location of genes in the chicken W chromosome. Collectively, these results will contribute molecular insights into the sexual determination, differentiation and female development based on the W chromosome.

• 한국어류학회지
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• 제8권2호
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• pp.68-73
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• 1996

중국원산으로 한국에 도입된 초어(grass carp, Ctenopharyngodon idellua), 대두어(bighead carp, Aristichthys nobilis) 및 백련어(Silverer carp, Hypophthalmichthys molitrix)의 외부형태 및 염색체 특징에 대한 기본 정보를 얻기 위하여 본 연구를 하였다. 초어는 새파, 체측비늘, 지느러미들의 기조수와 계측치에서 대두어 및 백련어와 차이를 보였다. 대두어와 백련어는 복부에 용골과 외부 형태 등에서 유사했으나, 새파와 체측의 반문에서 쉽게 구분되었다. 그러나 염색체 수는 2n=48, arm number (fundamental number, NF)는 84로 모두 동일하였다. 연구된 3종의 염색체는 모두 metacentric chromosome이 10쌍, submetacentric chromosome이 8쌍, acrocentric 또는 telocentric chromosome이 6쌍으로 구성되어 있었다. 그리고 외부형태 형질, 국명 및 핵형의 유연관계에 대해서 논의하였다.

• 식물분류학회지
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• 제48권4호
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• pp.260-277
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• 2018

The evolution of chromosome numbers and the karyotype structure is a prominent feature of plant genomes contributing to or at least accompanying plant diversification and eventually leading to speciation. Polyploidy, the multiplication of whole chromosome sets, is widespread and ploidy-level variation is frequent at all taxonomic levels, including species and populations, in angiosperms. Analyses of chromosome numbers and ploidy levels of 252 taxa of Korean non-commelinid monocots indicated that diploids (ca. 44%) and tetraploids (ca. 14%) prevail, with fewer triploids (ca. 6%), pentaploids (ca. 2%), and hexaploids (ca. 4%) being found. The range of genome sizes of the analyzed taxa (0.3-44.5 pg/1C) falls well within that reported in the Plant DNA C-values database (0.061-152.33 pg/1C). Analyses of karyotype features in angiosperm often involve, in addition to chromosome numbers and genome sizes, mapping of selected repetitive DNAs in chromosomes. All of these data when interpreted in a phylogenetic context allow for the addressing of evolutionary questions concerning the large-scale evolution of the genomes as well as the evolution of individual repeat types, especially ribosomal DNAs (5S and 35S rDNAs), and other tandem and dispersed repeats that can be identified in any plant genome at a relatively low cost using next-generation sequencing technologies. The present work investigates chromosome numbers (n or 2n), base chromosome numbers (x), ploidy levels, rDNA loci numbers, and genome size data to gain insight into the incidence, evolution and significance of polyploidy in Korean monocots.

• 한국환경과학회지
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• 제15권12호
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• pp.1193-1197
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• 2006

This study was to examine the variations of chromosome number and the ranges of variety in the suspension culture of ginseng (Panax ginseng C. A. Meyer) callus cell, and the effect of plant hormones for the chromosome aberration. Plant hormones added with MS medium in the suspension culture were 2,4-D, kinetin, and 2,4-D+kinetin and concentration of the plant hormones were $1000{\mu}M$ and $0.1\;{\mu}M$ respectively. As a result of these experiment the following conclusion has been obtained. Media contained with 2,4-D+kinetin in $10{\mu}M$ concentration was very effective in the suspension culture result from 26.4% mitosis frequency, and found the various variation of chromosome number. Variety of chromosome number was diversed ($9\sim110$), espicially frequency of hypohaploid and hyperhaploid cells were very higher than hyperdiploid cells. In this experiments, it is suggested that $10{\mu}M$ 2,4-D+kinetin added with medium in the suspension culture of ginseng callus was effect in the variations of chromosome number.