• Title/Summary/Keyword: chromosomal variation

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Systematic Studies on Korean Rodents: VI. Analysis of Morphometric Characters, Chromosomal Karyotypes and Mitochondrial DNA in Two Species of Genus Rattus (한국에 서식하고 있는 설치류의 계통분류학적 연구: 6. 집쥐속 2종의 형태학적 형질, 염색체 핵형 및 미토콘디리아 DNA의 분석)

  • 고홍선
    • Animal Systematics, Evolution and Diversity
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    • v.8 no.2
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    • pp.231-242
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    • 1992
  • Samples of two species of genus Ratts(black rat, Rattus rasttus Linnaeus; common rat, Rattus norvegicus Berkenhaut) in Korea were trapped and their 31 morphometric charcters were analyzed statistically in order to determine the range of geographic variation within each species and the interspecific differences. In addition, chromosomal G-bands and C-bands were compared and the fragment patterns of mtDNA resulted from the digestion with restriction enzymes were also analyzed. Samples of black rats from six localities in Korea were similar with one another in their morphometric characters: in head and body length, length of tail vertebrae, conventional karyotype and C-bands, they are comparable to Rattus rattus tanezumi in Japan. Specimens of common rats from seven localities in Korea were similar with one another in their morphometric characters: in conventional karyotype, they are comparable to Rattus norvegicus caraco in eastern Asia. Common rats differ from black rats in their morphometric characteris, chromosomal karyotypes and mtDNA. It is confirmed that correct species name of black rat in Korea is Rattus rattus tanezumi Tempminck: species name of common rat in Korea is Rattus norvegicus caraco Pallas: the common rat is a species, which is distinct from the black rat.

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PCR-Based Polymorphic Analysis for the Y Chromosomal Loci DYS19 and DXYS5Y (47z) in the Korean Population

  • Shin, Dong-Jik;Kim, Yung-Jin;Kim, Wook
    • Animal cells and systems
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    • v.2 no.2
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    • pp.281-285
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    • 1998
  • We examined Y chromosomal DNA polymorphisms at the DYS19 and DXYS5Y loci in a total of 480 unrelated male samples from the Korean population. All five common alleles were identified at the tetranucleotide microsatellite locus DYS19 in this study. The C allele was the most frequent (212/480), followed by D (136/480), B (75/480), E (36/480) and A (21/480) allele. The frequency of Y2 allele at the DXYS5Y locus was found to be 4.6% (22/480). Combining the allelic variation at these two loci resulted in a total of 9 combination haplotypes. The mean combination haplotype diversity wIns 0.72. Based on the results of these two loci, Korean and Japanese populations may share some common genetic structure that is rare or absent in the other ethnic groups. The genetic similarity between Korean and Japanese populations may be due to the large infusion of Y chromosomes through the Yayoi migration starting 2,300 years ago from Korea to Japan.

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In Vitro Studies on Pinus koraiensis. II. Chromosomal Variation in the Callus (잣나무의 기내배양(器內培養)에 관(關)한 연구(硏究). II. Callus 세포(細胞)의 염색체변이(染色體變異))

  • Kim, Oue Ryong;Park, Young Goo
    • Journal of Korean Society of Forest Science
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    • v.74 no.1
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    • pp.56-60
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    • 1986
  • Excised mature embryos of P. koraiensis were plated on a series of G.D. basic media supplemented with growth regulators as follow; $0.1mg/{\ell}$ NAA(M-1); $0.1mg/{\ell}$ NAA and 2,4-D (M-2); $0.1mg/{\ell}$ 2,4-D and BAP (M-3); $0.1mg/{\ell}$ 2,4-D and kinetin (M-4). Cytological study of the callus showed that thercentage of occurrance of diploid cells was observed 52% in M-3 and 36% in M-4, while that was revealed 29% in M-1 and 17% in M-1. The frequency of diploid cells was increased on the M-3 and M-4 media. The stable chromosome state is a crucial factor for organogenesis. Therefore, it can be inferred that the callus tissues cultured on media supplemented with both auxin and cytokinin have the greatest possibility of organogenesis.

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Reanalysis of Ohno's hypothesis on conservation of the size of the X chromosome in mammals

  • Kim, Hyeongmin;Lee, Taeheon;Sung, Samsun;Lee, Changkyu;Kim, Heebal
    • Animal cells and systems
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    • v.16 no.6
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    • pp.438-446
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    • 2012
  • In 1964, Susumu Ohno, an evolutionary biologist, hypothesized that the size of X chromosome was conserved in mammalian evolution, and that this was based on chromosomal length. Today, unlike Ohno's method which was based on estimated lengths, we know the exact lengths of some mammalian sequences. The aim of this study was to reanalyze Ohno's hypothesis. In mammalian species, variation in the length of the X chromosome is greater than in the autosomes; however, this variation is not statistically significant. This means that differences in chromosomal length occur equally in the X chromosome and in the autosomes. Interspersed nuclear elements and genetic rearrangements were analyzed to maintain the same variance between the length of the X chromosome and the autosomes. The X chromosome contained fewer short interspersed elements (SINEs) (0.90 on average); however, it did contain more long interspersed elements (LINEs) than did autosomes (1.56 on average). An overall correlation of LINEs and SINEs with genetic rearrangements was observed; however, synteny breaks were more closely associated with LINEs in the autosomes, and with SINEs in the X chromosome. These results suggest that the chromosome-specific activities of LINEs and SINEs result in the same variance between the lengths of the X chromosome and the autosomes. This is based on the function of interspersed nuclear elements, such as LINEs, which can inactivate the X chromosome and the reliance of non-autonomous SINEs on LINEs for transposition.

High-Resolution Microarrays for Mapping Promoter Binding sites and Copy Number Variation in the Human Genome

  • Albert Thomas
    • Proceedings of the Korean Society for Bioinformatics Conference
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    • 2006.02a
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    • pp.125-126
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    • 2006
  • NimbleGen has developed strategies to use its high-density oligonucleotide microarray platform (385,000 probes per array) to map both promoter binding sites and copy number variation at very high-resolution in the human genome. Here we describe a genome-wide map of active promoters determined by experimentally locating the sites of transcription imitation complex binding throughout the human genome using microarrays combined with chromatin immunoprecipitation. This map defines 10,567 active promoters corresponding to 6,763 known genes and at least 1,196 un-annotated transcriptional units. Microarray-based comparative genomic hybridisation (CGH) is animportant research tool for investigating chromosomal aberrations frequently associated with complex diseases such as cancer, neuropsychiatric disorders, and congenital developmental disorders. NimbleGen array CGH is an ultra-high resolution (0.5-50 Kb) oligo array platform that can be used to detect amplifications and deletions and map the associated breakpoints on the whole-genome level or with custom fine-tiling arrays. For whole-genome array CGH, probes are tiled through genic and intergenic regions with a median probe spacing of 6 Kb, which provides a comprehensive, unbiased analysis of the genome.

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Environmental Change Uncovers Differences in Polygenic Effect of Chromosomes from a Natural Population of Drosophila melanogaster

  • Jeung, Min-Gull;Thompson, James-N.Jr;Lee, Chung-Choo
    • Animal cells and systems
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    • v.1 no.4
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    • pp.609-617
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    • 1997
  • Polygenic variation of sternopleural bristle number was investigated at the whole chromosome level in a natural population of Drosophila melanogasfer. Fifty pairs of second and third chromosomes were analyzed at $25^\circ{C}$. Since environmental factors such as temperature influence polygenic expression of quantitative traits, whole chromosomal effects of 28 pairs from the larger original sample were measured under cycling temperature, a $10-30\circ{C}$ cycle in 24 hours, to reveal any polygenic alleles whose effects might be masked under the constant temperature. While third chromosomes typically showed a larger contribution to polygenic variation in both environments, second chromosomes showed greater sensitivity to environmental changes. Cluster analyses of second and third chromosomes produced a limited number of clusters. Such a small number of cluster's implies that there may be a small number of genes, or quantitative trait loci (QTLs), having large effects on phenotypic variation. The genetic structure assessed under constant temperature, however, did not show any correlation with the structure under cycling temperature. The discrepancy could be caused by independent response of each polygenic allele to temperature changes. Thus, polygenic structure in natural populations should be thought of as a temporally changing profile of interactions between gene and ever-changing environment.

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Genomic Diversity of Helicobacter pylori

  • Lee, Woo-Kon;Choi, Sang-Haeng;Park, Seong-Gyu;Choi, Yeo-Jeong;Choe, Mi-Young;Park, Jeong-Won;Jung, Sun-Ae;Byun, Eun-Young;Song, Jae-Young;Jung, Tae-Sung;Lee, Byung-Sang;Baik, Seung-Chul;Cho, Myung-Je
    • The Journal of the Korean Society for Microbiology
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    • v.34 no.6
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    • pp.519-532
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    • 1999
  • Helicobacter pylori is a causative agent of type B gastritis and plays a central role in the pathogenesis of gastroduodenal ulcer and gastric cancer. To elucidate the host-parasite relationship of the H. pylori infection on the basis of molecular biology, we tried to evaluate the genomic diversity of H. pylori. An ordered overlapping bacterial artificial chromosome (BAC) library of a Korean isolate, H. pylori 51 was constructed to set up a genomic map. A circular physical map was constructed by aligning ApaI, NotI and SfiI-digested chromosomal DNA. When the physical map of H. pylori 51 was compared to that of unrelated strain, H. pylori 26695, completely different restriction patterns were shown. Fifteen known genes were mapped on the chromosome of H. pylori 51 and the genetic map was compared with those of strain 26695 and J99, of which the entire genomic sequences were reported. There were some variability in the gene location as well as gene order among three strains. For further analysis on the genomic diversity of H. pylori, when comparing the genomic structure of 150 H. pylori Korean isolates with one another, genomic macrodiversity of H. pylori was characterized by several features: whether or not susceptible to restriction digestion of the chromsome, variation in chromosomal restriction fingerprint and/or high frequency of gene rearrangement. We also examined the extent of allelic variation in nucleotide or deduced amino acid sequences at the individual gene level. fucT, cagA and vacA were confirmed to carry regions of high variation in nucleotide sequence among strains. The plasticity zone and strain-specific genes of H. pylori 51 were analyzed and compared with the former two genomic sequences. It should be noted that the H. pylori 51-specific sequences were dispersed on the chromosome, not congregated in the plasticity zone unlike J99- or 26695-specific genes, suggesting the high frequency of gene rearrangement in H. pylori genome. The genome of H. pylori 51 shows differences in the overall genomic organization, gene order, and even in the nucleotide sequences among the H. pylori strains, which are far greater than the differences reported on the genomic diversity of H. pylori.

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DNAchip as a Tool for Clinical Diagnostics (진단의학 도구로서의 DNA칩)

  • 김철민;박희경
    • Proceedings of the Korean Institute of Intelligent Systems Conference
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    • 2004.04a
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    • pp.97-100
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    • 2004
  • The identification of the DNA structure as a double-stranded helix consting of two nucleotide chain molecules was a milestone in modern molecular biology. The DNA chip technology is based on reverse hybridization that follows the principle of complementary binding of double-stranded DNA. DNA chip can be described as the deposition of defined nucleic acid sequences, probes, on a solid substrate to form a regular array of elements that are available for hybridization to complementary nucleic acids, targets. DNA chips based on cDNA clons, oligonucleotides and genomic clons have been developed for gene expression studies, genetic variation analysis and genomic changes associated with disease including cancers and genetic diseases. DNA chips for gene expression profiling can be used for functional analysis in human eel Is and animal models, disease-related gene studies, assessment of gene therapy, assessment of genetically modified food, and research for drug discovery. DNA chips for genetic variation detection can be used for the detection of mutations or chromosomal abnormalities in cnacers, drug resistances in cancer cells or pathogenic microbes, histocompatibility analysis for transplantation, individual identification for forensic medicine, and detection and discrimination of pathogenic microbes. The DNA chip will be generalized as a useful tool in clinical diagnostics in near future. Lab-on-a chip and informatics will facilitate the development of a variety of DNA chips for diagnostic purpose.

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CGHscape: A Software Framework for the Detection and Visualization of Copy Number Alterations

  • Jeong, Yong-Bok;Kim, Tae-Min;Chung, Yeun-Jun
    • Genomics & Informatics
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    • v.6 no.3
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    • pp.126-129
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    • 2008
  • The robust identification and comprehensive profiling of copy number alterations (CNAs) is highly challenging. The amount of data obtained from high-throughput technologies such as array-based comparative genomic hybridization is often too large and it is required to develop a comprehensive and versatile tool for the detection and visualization of CNAs in a genome-wide scale. With this respective, we introduce a software framework, CGHscape that was originally developed to explore the CNAs for the study of copy number variation (CNV) or tumor biology. As a standalone program, CGHscape can be easily installed and run in Microsoft Windows platform. With a user-friendly interface, CGHscape provides a method for data smoothing to cope with the intrinsic noise of array data and CNA detection based on SW-ARRAY algorithm. The analysis results can be demonstrated as log2 plots for individual chromosomes or genomic distribution of identified CNAs. With extended applicability, CGHscape can be used for the initial screening and visualization of CNAs facilitating the cataloguing and characterizing chromosomal alterations of a cohort of samples.

Genetic Abnormalities in Oral Leukoplakia and Oral Cancer Progression

  • Kil, Tae Jun;Kim, Hyun Sil;Kim, Hyung Jun;Nam, Woong;Cha, In-Ho
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.6
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    • pp.3001-3006
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    • 2016
  • Background: The cancer progression of oral leukoplakia is an important watchpoint in the follow-up observation of the patients. However, potential malignancies of oral leukoplakia cannot be estimated by histopathologic assessment alone. We evaluated genetic abnormalities at the level of copy number variation (CNV) to investigate the risk for developing cancer in oral leukoplakias. Materials and Methods: The current study used 27 oral leukoplakias with histological evidence of dysplasia. The first group (progressing dysplasia) consisted of 7 oral lesions from patients with later progression to cancer at the same site. The other group (non-progressing dysplasia) consisted of 20 lesions from patients with no occurrence of oral cancer and longitudinal follow up (>7 years). We extracted DNA from Formalin-Fixed Paraffin-Embedded (FFPE) samples and examined chromosomal loci and frequencies of CNVs using Taqman copy number assays. Results: CNV frequently occurred at 3p, 9p, and 13q loci in progressing dysplasia. Our results also indicate that CNV at multiple loci-in contrast to single locus occurrences-is characteristic of progressing dysplasia. Conclusions: This study suggests that genetic abnormalities of the true precancer demonstrate the progression risk which cannot be delineated by current histopathologic diagnosis.