• Clinical and Experimental Reproductive Medicine
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• v.27 no.4
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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.

• Environmental Mutagens and Carcinogens
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• v.18 no.2
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• pp.109-115
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• 1998

Fluorscence in situ hybridization with chromosome-specific probe has been shown to be a valid and rapid method for detection of chromosome rearrangements induced by chemical and physical agents. This method is useful for quantifying structural aberrations, expecially for stable ones, such as translocation and insertion, which are difficult to detect with conventional method in human lymphocyte. In order to use the FISH method as a biodosimeter for monitoring human population exposed to various chemical and physical agent, baseline level of chromosome rearragement was established. Blood from forty four healthy adults were collected and analysed with whole chromosome-specific probes by human chromosome 1,2 and 4. The frequencies of stable translocation were 2.45 per 100 cell equivalent and those of insertion, color juction, acentric and dicentric were 0.32, 3.28, 0.23 and 0.27 per 100 cell equivalent respectively. The frequencies of chromosome rearragements increased with age in both sexes except for dicenrics. From above result, stable aberrations accumulate with age and it may reflect integrated lifetime exposure of adverse environment.

• Proceedings of the KIEE Conference
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• 1998.07b
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• pp.555-559
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• 1998

The human chromosome analysis is widely used to diagnose genetic disease and various congenital anomalies. Many researches on automated chromosome karyotype analysis have been carried out, some of which produced commercial systems. However, there still remains much room for improving the accuracy of chromosome classification. In this paper, We proposed an optimal pattern classifier by neural network to improve the accuracy of chromosome classification. The proposed pattern classifier was built up of two-step multi-layer neural network(TMANN). We reconstructed chromosome image to improve the chromosome classification accuracy and extracted four morphological features parameters such as centromeric index (C.I.), relative length ratio(R.L.), relative area ratio(R.A.) and chromosome length(C.L.). These Parameters employed as input in neural network by preprocessing twenty human chromosome images. The experiment results shown that the chromosome classification error was reduced much more than that of the other classification methods.

• Journal of Biomedical Engineering Research
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• v.17 no.4
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• pp.545-552
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• 1996

Researches on chromosome are very significant in cytogenetics since a gene of the chromosome controls revelation of the inheritance plasma The human chromosome analysis is widely used to diagnose genetic disease and various congenital anomalies. Many researches on automated chromosome karyotype analysis has been carried out, some of which produced commercial systems. However, there still remains much room for improving the accuracy of chromosome classification. In this paper, we propose an algorithm for reconstruction of the chromosDme image to improve the chromosome classification accuracy. Morphological feature parameters are extracted from the reconstructed chromosome images. The reconstruction method from chromosome image is the 32 direction line algorithm. We extract three morphological feature parameters, centromeric index(C.I.), relative length ratio(R.L.), and relative area ratio(R.A.), by preprocessing ten human chromosDme images. The experimental results show that proposed algorithm is better than that of other researchers'comparing by feature parameter errors.

• The Korean Journal of Zoology
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• v.7 no.1
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• pp.29-32
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• 1964

A study on chromosome of leucocytes in blood cultures derived from 6 normal Korean was performed . Exact chromosome counts were carried out on 205 cells in male, 211 in female , of which 86.05% revealed a chormosome mordal number of 46. On the basis of relative chromosome lengths and position of centromeres, the Karyotype that the human chromosomes were classified into 7 groups with 22 airs of autosome and one pair of sex chromosome was determined accoridng to the method of denver report. The chromosome number on metaphase was observed in short term cultures of leucocytes from the peripheral blood of 2 patients with chronic granulocytic leukemia and 1 patient with acute granulocitic leukemia . and the chromosome morpholoogy was also investigated in one acute leukemic patient. In all leukemic cases the leucocytes showed the constant value of 46 in the stem -line of chormosome number. But the frequency of cells with 46 chromosomes appeared in the 3 cases was 67.30% in average with a slightly higher range in hypo-andhyper-diploid chromosome numbers than in normal human, The idiogram analysis did not show any abnormality of chromosome in acute leukemic cells.

• Proceedings of the Korean Society for Bioinformatics Conference
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• 2003.10a
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• pp.183-192
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• 2003

With the availability of complete whole-genomes such as the human, mouse, fugu and chimpanzee chromosome 22, comparative analysis of large genomes from cross-species at varying evolutionary distances is considered one of a powerful approach for identifying coding and functional non-coding sequences. Here we describe a fast and efficient global alignment method especially for large genomic regions over mega bases pair. We used an approach for identifying all similarity regions by HSP (Highest Segment Pair) regions using local alignments and then large syntenic genome based on the both extension of anchors at HSP regions in two species and global conservation map. Using this alignment approach, we examined rearrangement loci in human chromosome 21 and chimpanzee chromosome 22. Finally, we extracted syntenic genome 30 Mb of human chromosome 21 with chimpanzee chromosome 22, and then identified genomic rearrangements (deletions and insertions ranging h size from 0.3 to 200 kb). Our experiment shows that all jnsertion/deletion (indel) events in excess of 300 bp within chimpanzee chromosome 22 and human chromosome 21 alignments in order to identify new insertions that had occurred over the last 7 million years of evolution. Finally we also discussed evolutionary features throughout comparative analyses of Ka/ks (non-synonymous / synonymous substitutions) rate in orthologous 119 genes of chromosome 21 and 53 genes of MHC-I class in human and chimpanzee genome.

• Journal of Biomedical Engineering Research
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• v.18 no.3
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• pp.233-241
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• 1997

The research on chromosomes is very significant in cytogenetics since genes of the chromosomes control revelation of the inheritance plasma. The human chromosome analysis is widely used to study leukemia, malignancy, radiation hazard, and mutagen dosimetry as well as various congenital anomalies such as Down's, Klinefelter's, Edward's, and Patau's syndrome. The framing and analysis of the chromosome karyogram, which requires specific cytogenetic knowledge is most important in this field. Many researches on automated chromosome karyotype analysis methods have been carried out, some of which produced commercial systems. However, there still remains much room to improve the accuracy of chromosome classification and to reduce the processing time in real clinic environments. In this paper, we proposed a hierarchical artificial neural network(HANN) to classify the chromosome karyotype. We extracted three or four chromosome morphological feature parameters such as centromeric index, relative length ratio, relative area ratio, and chromosome length by preprocessing from ten human chromosome images. The feature parameters of five human chromosome images were used to learn HANN and the rest of them were used to classify the chromosome images. The experiment results show that the chromosome classification error is reduced much more than that of the other researchers using less feature parameters.

• Environmental Mutagens and Carcinogens
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• v.16 no.2
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• pp.88-96
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• 1996

Fluorescence in situ hybridization (FISH) with the DNA probe for human chromosome 4 was used to analyse in vitro radiation induced chromosome rearrangement in peripheral lymphocyte. Translocations, dicentrics, acentrics and color junctions involving the painted chromosome were scored according to the Protocol for Aberration Identification and Nomenclature Terminology (PAINT) system. The frequency of chromosome rearrangements including reciprocal translocation, dicentric, acentric fragment and color junction increased with radiation dose. The frequency of dicentric chromosome reduced by the fixation time following irradiation, whereas that of translocation was relatively persistent. The applicability of FISH for scoring stable translocation for biological dosimetry was demonstrated.

• Journal of Life Science
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• v.11 no.2
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• pp.81-82
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• 2001

The human ribosomal protein 54 genes, RPS4X and RPS4Y are located on the X and Y chromosomes. They have been postulated as candidate for Turner syndrome which was characterized by gonadal dysgenesis, short stature, and various external and internal anomalies. Using the BLAST search program, we identified sixteen RPS4 pseudogenes from the human genome and analyzed them phylogenetically. The RPS4-C12-1, C12-2, and C12-3 pseudogenes from chromosome 12 have been evolved independently during hominid evolution. The RPS4X gene from X chromosome it closely related to the RPS4-C12-2 from chromosome 12 and RPS4-C5 from chromosome 5, whereas the RPS4Y gene is very closely related to RPS4-C16 from chromosome 16. The exact mapping of the RPS4 pseudogene family was peformed, indicating that the RPS4 pseudogene family was mapped on human chromosomes 1, 2, 5, 6, 8, 10, 11, 12, 13, 16, 18, 19 and 20. Taken together, the precise chromosomal localization and phylegenetic relationship of the RPS4 pseudo-genes could be of great use in further study for understanding the Turner syndrome.

• Journal of Life Science
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• v.10 no.2
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• pp.12-13
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• 2000

A human-specific retroposon SINE-R.C2 has been derived from a human endogenous retrovirus HER V-K 10. It is absent in the genome of nonhuman primates and present within the third intron of the human C2 gene that is located in the class III region of the major histocompatibility complex. In the present study, we determined the regional location of the human C2 gene. The analysis of the Genebridge 4 radiation hybrid mapping panel using PCR amplification located the C2 gene between D6S1422 (10.1 cR) and CHLC.GATA4A03 (21.3) with a lod score of>3.0. This allowed us to localize C2 gene on the human chromosome 6 band p21.31.