• The Korean Journal of Zoology
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• v.15 no.1
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• pp.35-38
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• 1972

Studies on the chromosome of Mus musculus have been done by Galton in 1965. In the present studies the authors have analyzed the chromosome pattern of Mus molossinus and found the same pattern of karyotype as observed by Galton. In addition, it was found that there exists no difference in karyotype between different localities and between different species.

• Clinical and Experimental Pediatrics
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• v.50 no.9
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• pp.875-881
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• 2007

Purpose : Chromosome analysis is important in genetic study and genetic counseling. This study was performed to evaluate the type and incidence of chromosome abnormalities in a single hospital for 25 years. Methods : Chromosome analyses were performed on peripheral blood lymphocytes, obtained from 4,856 patients with suspected chromosomal aberrations, referred to cytogenetic laboratory in Department of Pediatrics, Kyungpook National University Hospital from May 1981 to October 2005. Results : We analyzed 4,567 cases. Children were 3,014 cases (66.0%) and adult were 1,553 cases (34.0 %). The most common purpose of the chromosomal analysis was growth and developmental abnormality in children and infertility in adults. Total chromosomal aberration rate was 16.9% (770/4,567). Among those cases, the numerical abnormalities were 12.2% (558 cases), the structural abnormalities were 4.1% (187 cases), and others were 0.5% (25 cases). The relative frequencies of autosomal abnormalities were 6.4% (294 cases) in Down syndrome; 0.2% (7 cases) in Edwards syndrome; 0.1% (4 cases) in Patau syndrome; 0.2% (10 cases) in other abnormalities, of sex chromosome, 2.9% (131 cases) in Klinefelter syndrome; 2.2% (99 cases) in Turner syndrome; 0.2% (8 cases) in 47, XXX; 0.1% (3 cases) in 47, XYY. Among the structural abnormalities, translocation was 1.8% (84 cases), inversion was 0.8% (37 cases), deletion was 0.4% (17 cases), and insertion was 0.3% (13 cases), in order of frequency. Conclusion : In this study, the type, incidence and distribution of cytogenetic abnormalities by karyotype were reviewed. We hope that our study could be used as a basic information on the diagnosis, treatment and genetic counseling for chromosome abnormalities in Korea.

• Korean Journal of Crystallography
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• v.5 no.1
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• pp.39-50
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• 1994

Diamond thin films were deposited on silicon, molybdebum, titanum and tugsten substrates, and were chlwntnizen using scanning electron microscopy, X-ray diffraction analysis and Raman spectroscopy. From the result of experiment in various deposition periods, it was found that found that were nucleated and grown on interlayed carbide layers, which were formed on refractory metal substrates at the initial stage of.

• Journal of Aquaculture
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• v.6 no.3
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• pp.221-233
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• 1993

Cell size, DNA content, chromosome and PCR-based mitochondrial 12S rRNA gene analyses were conducted to obtain basic informations for genetic stock identification of spotted flounder (Verasper variegatus) from Yeocheun, Korea. The mean erythrocytic and nuclear volumes of spotted flounder were $211.10{\mu}m^3$ and $23.03{\mu}m^3$, respectively. The haploid DNA content of this species was 0.79 pg/cell which correspond to $46.5\%$ of carp and to $22.6\%$ of mammals. Spotted flounder had the 2n = 46 acrocentric chromosomes but no heteromorphic sex chromosomes was found. Mitochondrial DNA gene for 12S ribosomal RNA was amplified by polymerase chain reaction (PCR) and the PCR products were subjected to digestion with 15 restriction endonucleases. Restriction enzyme analyses revealed that Ava I, Mae II, Sma I and Xba I had one restriction site in the mitochondrial 12S rRNA gene segment of spotted flounder, while Mae I had two. Segments of 12S rRNA gene from mitochondria in spotted flounder were sequenced and compared with channel catfish and human as controls. The 12S rRNA gene of this species was more similar to that of channel catfish than to human's.

• Journal of Genetic Medicine
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• v.5 no.1
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• pp.41-46
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• 2008

Purpose : Fragile X syndrome (FXS) is the most common heritable cause of cognitive impairment. FXS is caused by hyperexpansion and hypermethylation of a polymorphic CGG trinucleotide repeat in the 5' untranslated region of the fragile X mental retadation-1(FMR1) gene. Combination of Southern blotting and simple polymerase chain reaction(PCR) amplification of the FMR1 repeat region is commonly used for diagnosis in females. To give a definite diagnosis in a female child suspected of having FXS, we carried out the molecular diagnostic test for FXS using the recently developed Abbott Molecular Fragile X PCR Kit. Methods : The PCR amplification of the FMR1 repeat region was performed using the Abbott Mdecular Fragile X PCR Kit. The amplified products were analyzed by size-separate analysis on 1.5% agarose gels and by DNA fragment analysis using Gene scan. Results : Agarose gel and Gene scan analyses of PCR products of the FMR1 repeat region showed that the patient had two heterozygous alleles with a normal 30 repeats and full mutation of >200 repeats whereas her mother had two heterozygous alleles with the normal 30 repeats and premutation of 108 repeats, suggesting that the premutation of 108 repeats in her mother may have led to the full mutation of >200 repeats in the patient. Conclusion : We diagnosed FXS in a female patient using a simplified molecular diagnostic test. This commercially available diagnostic test for FXS, based on PCR, may be a suitable alternative or complement method to Southern blot analysis and PCR analysis and/or methylation specific(MS)-PCR analysis for the molecular diagnosis of FXS in both males and females.

• Korean Journal of Fisheries and Aquatic Sciences
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• v.35 no.6
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• pp.682-685
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• 2002

Cytogenetic analysis was conducted to obtaining informations for genetic improvement of spotty belly greenling (Hexagrmmos agrammus) and greenling (H. otakii) in aquaculture. Erythrocytes of spotty belly greenling were slightly larger than those of greenling (p<0.05). The nuclear volume of spotty belly greening erythrocytes averaged 15.14 $\pm$ 0.92 ${\mu}m^3$ while that of greening averaged 14.61 $\pm$ 0.15 $\mu$m^3 the difference was not significant (p>0.05). Consequently, genome size of spotty belly greenling was also slightly larger than those of greenling. DNA content per cell of spotty belly greenling and greenling were 2.15 pg and 2.10 pg, respectively. The modal chromosome number of both greenling species were same as 2n=48 and karyotypes were also identical as 2 metacentrics, 11 snbrnetacentrics and 11 acrocentric pairs $(W: 74), There was no evidence of polymorphism including aneuploidy or sex-related heterornorphisrn for all specimens examined. The nuclear organizer regions (NOR_s)$ were localized on a small acrocentric chromosome pair in both species, Spotty belly greenling showed large sizes of active rRNA coding regions in their chromosomes. However, greenling examined only small sizes of active rRNA coding regions with dimorphism.

• Korean Journal of Medicinal Crop Science
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• v.4 no.1
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• pp.12-18
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• 1996

This study was investigated to improve the rate of the seed germination of Wasabia japonica with $GA_3$ and BAP. The germination rate was 36% with 100ppm $GA_3$ only and 32% with 10ppm BAP only, while that was 65% with combination of 100ppm $GA_3$ and 10ppm BAP compared to that of 7.5% in control. This results show us that the most effect of germination rate was with 100ppm $GA_3$ and 10ppm BAP. Mutagenesis was induced with mutagen, EMS and colchicine. Before the germination, the survival rate was 62% with 0.5% colchicine compared to that of 7% in control. After the germination, the 85% of developed seed was alive with treatment of 0.5% colchicine and 55% of those was alive with 0.06% EMS compared to that of 8% in control. We analyzed the karyotype and isozyme pattern of Wasabia japonica induced with colchicine and EMS. The tetratype of Wasabia japonica was observed from Wasabia japonica treated with 0.5% colchicine. whereas it was not observed with 0.06% EMS. The peroxidase pattern of colchicine treated Wasabia japonica was different from nontreatment. but that of EMS treated Wasabia japonica was the same with normal one.

• The Journal of the Korea Contents Association
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• v.22 no.2
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• pp.762-769
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• 2022

Genetic testing in prenatal diagnosis is a precious tool providing valuable information in clinical management and parental decision-making. For the last year, cytogenetic testing methods, such as G-banding karyotype analysis, fluorescent in situ hybridization, chromosomal microarray, and gene panels have evolved to become part of routine laboratory testing. However, the limitations of each of these methods demonstrate the need for a revolutionary technology that can alleviate the need for multiple technologies. The recent introduction of new genomic technologies based on next-generation sequencing has changed the current practice of prenatal testing. The promise of these innovations lies in the fast and cost-effective generation of genome-scale sequence data with exquisite resolution and accuracy for prenatal diagnosis. Here, we review the current state of sequencing-based pediatric diagnostics, associated challenges, as well as future prospects.

• Clinical and Experimental Pediatrics
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• v.45 no.3
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• pp.311-319
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• 2002

Purpose : We have performed this study to obtain reference data for the distribution of chromosomal aberrations in Korea. Methods : We analyzed 1,180 chromosomal study cases from Kwang ju Christian Hospital during the past 25 years. 756 cases suspected of characteristic chromosomal aberration syndromes and 424 cases with hermaphroditism, mild sexual abnormalities, multiple anomalies, or mental & growth retardation were included. Results : The male to female ratio of autosomal aberration syndromes was 1.2 : 1. 78.6% of autosomal aberrations were diagnosed under 1 year of age, whereas 89.8% of sex chromosomal aberrations were diagnosed over 12 years of age. Among 1,180 cases, 612 ones had chromosomal aberrations(51.9%) : 590 of 756 cases suspected of chromosomal aberration syndromes had aberrations( 78.0%), whereas 22 of 424 showing the above other features had aberrations(5.2%). Autosomal aberrations appeared in 514 cases(83.8%) and sex chromosomal aberrations appeared in 98 cases(16.2%). The most frequently observed abberation in autosomal aberrations was Down syndrome, followed by E, D, B, A and C group aberrations. The most common abberation in sex chromosomal aberrations was Turner syndrome, followed by Klinefelter syndrome and Fragile X syndrome. Conclusion : It is of vital importance that patients suspected of chromosomal aberrations undergo chromosomal analysis. Further advanced chromosomal staining and molecular genetic methods will raise the detection rate of chromosomal aberrations.

• Journal of Korean Society of Forest Science
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• v.62 no.1
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• pp.60-67
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• 1983

Karyotype analysis of somatic chromosome was attempted to find out the relationship among the 3 species of Abies growing in Korea, and A firma introduced from Japan The results were summarized as follows: 1) The number of somatic chromosome was equal for all species, 2n=24. 2) When somatic chromosome was arranged by descending order of the short arm length, the long arm of number 9 chromosome of A. holophylla was much larger than that of the other species. A. koreana and A. nephrolepis had a similarity in b/a value and A. holophylla and A. firma were also similar. 3) When it was arranged by descending order of the short arm length, eight chromosomes of A. koreana and A. nephrolepis showed a similar in b/a value, and two chromosomes of A. holophylla and A. firma did in its value. 4) When it was arranged by descending order of total length, chromosome numbers 7 and 8 in A. koreana were particularly similar to those in A. nephrolepis. 5) When it was arranged by descending order of total length, six somatic chromosomes of A. koreana and A. nephrolepis were similar in b/a value, and two somatic chromosomes of A. holophylla and A. firma similar in its value. 6) When it was arranged by descending order of long arm length, in the of b/a value of chromosome number one in A. koreana and A. nephrolepis was much larger, and that in A. holophylla and A. firma was much smaller than that in the others.