• Clinical and Experimental Reproductive Medicine
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• v.26 no.3
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• pp.475-481
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• 1999

Objective: The purpose of this investigation is to determine the frequency of chromosomal or genetic causes of recurrent spontaneous abortion. Methods: A cytogenetic study was made in of 921 couples for 13 years from January 1984 to December 1997 in which the woman was ascertained to have had two or more spontaneous abortions at our Cytogenetic Laboratory, Institute of Reproductive Medicine and Population, Seoul National University. Results: The overall incidence of chromosome anomaly was 80 out of 921 (8.7%). There were 34 cases (3.69%) of reciprocal balanced translocation and 13 cases (1.41%) of Robertsonian translocation. Also 17 cases (1.85%) of inversion and 5 cases (0.54%) of X chromosome mosiacism was observed. In the case of reciprocal balanced translocation, chromosome 8,6,7,13 were preferentially involved over others. And in the case of Robertsonian translocation, chromosome 13 was preferentially involved. Conclusion: Our study demonstrates that cytogenetic analysis is indicated in couples with 2 or more spontaneous abortion and about half of these disorders are reciprocal balanced or Robertsonian translocations.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.29 no.4
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• pp.206-211
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• 2003

The pleomorphic adenoma is the most common neoplasm involving both the major and minor salivary glands. It is a benign, slowgrowing tumor, but local recurrences can occur. The pleomorphic adenoma gene 1 (PLAG1), which is a novel zinc finger gene, is frequently activated by reciprocal chromosomal translocations involving 8q12 in a subset of salivary gland pleomorphic adenomas. This experimental study was preformed to observe the translocation patterns between PLAG1 gene and the three translocation partner genes. We also have analyzed the presence of PLAG1 transcripts by RT-PCR. CTNNB1/PLAG1 gene fusion was observed in three of nine pleomorphic adnomas. However, LIFR/PLAG1 and SII/PLAG1 gene fusions were not detectable. All of three gene fusions was not detectable in one Warthin's tumor and three inflammatory salivary gland tissues. PLAG1 transcripts were expressed in all inflammatory salivary gland tissues and tumors except for three pleomorphic adenomas. Of particular one pleomorphic adenoma showing CTNNB1/PLAG1 gene fusion did not express PLAG1 transcipt. Our data indicate that gene fusion involving PLAG1 is a frequent event in pleomorphic adenoma, but correlation between gene fusion involving PLAG1 and PLAG1 transcription is not definite.

• Proceedings of the Korean Society of Toxicology Conference
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• 2002.05a
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• pp.124-124
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• 2002

In order to determine the effect of the DNA repair inhibitors, cytosine arabinoside(Ara C)and 3-aminobenzamide(3AB) on the frequenceis of chromosomal aberrations and micronuclei induced by radiation. After in vitro exposure of human lymphocytes to x-ray(1-3Gy) DNA repair inhibitors, Ara C and 3AB were treated and the frequencies of micronuclei, translocation and dicentric chromosomes were analysed using FISH technique with DNA probe for chromosome 4.(omitted)

• KOREAN JOURNAL OF CROP SCIENCE
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• v.43 no.4
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• pp.228-233
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• 1998

Seed storage proteins have been used for studying biochemical genetics and end-use quality aspects. We conducted enzyme-linked immunosorbent assay (ELISA) and one-dimensional SDS-PAGE (1D SDS-PAGE) to evaluate different cereal crop species and Korean wheat lines for rye secalin proteins. The antisecalin antibody showed consistent specificity for rye secalin with little cross-reactivity to gliadins. Immunological cross-reactivities measured by the ELISA technique using competition assay showed significant differences of absorbance among rye, triticale, wheat-rye translocated wheat and non-translocated wheat. The absorbance values were lowest in rye followed by triticale, translocated wheat and non-translocated wheat. The ELISA for discrimination of wheat-rye translocation on the basis of antigen-antibody reactivity showed that none of the Korean wheat lines possessed 1RS and secalin proteins. The competitive ELISA experiment demonstrated specific determination for secalin that was originated from rye chromosomal parts. The result of 1D SDS-PAGE for identifying rye secalin subunits showed all three rye specific secalin protein subunits (75 KDa, 45 KDa, and 40 KDa) for rye and triticale, and 1RS specific secalins (45 KDa and 40 KDa) for 1AL/1RS and 1BL/1RS translocated wheats. All Korean wheats were lacking 1RS of rye chromosome and secalin.

• Korean Journal of Ichthyology
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• v.24 no.1
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• pp.1-10
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• 2012

Reciprocal hybrids between the mud loach ($Misgurnus$ $mizolepis$) and cyprinid loach ($M.$ $anguillicaudatus$) were produced by artificial fertilization. The chromosome number of mud loach was 2n=48, consisting of 12M+4SM+32A chromosomes. The cyprinid loach has 2n=50, consisting of 10M+4SM+36A chromosomes. The chromosome numbers of the diploid reciprocal hybrids were 2n=49, consisting of 11M+4SM+34A chromosomes. All the karyotypes documented in this study had the same arm number of 64. There was no evidence of chromosomal polymorphisms or sex-related heteromorphism. The cytogenetic traits of the hybrid genotypes were intermediate between those of the parent species. In all genotypes, the chromosomal NORs localized to the terminal short arms of the same metacentric chromosome pair. These results suggest that Robertsonian translocation occurred between metacentric chromosome 1 of mud loach and acrocentric chromosome of cyprinid loach.

• Clinical and Experimental Pediatrics
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• v.48 no.7
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• pp.701-705
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• 2005

Purpose : Parents' genetic information plays an important role in their children's genetic expression. Human chromosome has 23-paternal chromosomes and 23-maternal chromosomes. Parental chromosomal translocation can induce clinical problems in their children because of imbalance in genetic information. We intent to analyze the cytogenentic and clinical features about children with maternal balanced translocation between chromosome 15 and 18. Methods : We detected by one family's FISH study of chromosome 15. We have evaluated children born to clinically normal parents about peripheral bood analysis, endocrine, metabolic, radiologic study, electroencephalogram and social & intelligence scale. and We analysis their clinical manifestation by hospital records. Results : Patient's father and elder sister are normal clinically and genetically. Her mother's chromosome show balanced translocation, 46, XX, t(15;18)(p11.2;p11.3). One child has 46, XX, der(18) t(15;18)(p11.2;p11.3), mental retardation, growth retardation, speech & social developmental delay, recurrent infection and mild mitochondria dysfunction. Her young brother has 46, XY, der(15) t(15;18) (p11.2;p11.3), mental retardation, aggressive behavior, obesity and speech developmental delay. Conclusion : In this study we observed the children with developmental delay, dysmorphic facial features, mental retardation, growth retardation associated with growth hormone deficiency and aggressive behavior due to unbalanced translocation between chromosome 15 and 18.

• Korean Journal of Animal Reproduction
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• v.15 no.2
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• pp.87-95
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• 1991

The chromosome analyses of blood culture were made of 11 Korean native and 53 crossbred males between the Korean native cattles(K) and Charolais(C), which consisted of $K\times$K, $C\times$K, $C\times$CK, CK$\times$CCK and Charolais synthetic males(CK$\times$CCK or CCK$\times$CK). 1. The diploid(2n=60, XY) Charolais synthetic male has the 29 pairs of acrocentric autosomes, a single large submetacentric X and a small metacentric Y chromosome. 2. The numbers of G-band of karyotype in these males were a few differences in the 8 pairs of autosomes(chromosome 2, 4, 5, 6, 9, 11, 19 and 26) compared to those of purebred Korean native ones. G-banding qualities were not matched in chromosome 16, 19 and 29 with the Korean native males and also in chromosome 14, 20 and 22 with other domestic cattles. 3. The G-banding pattern between chromosome 4-6-7 and 24-25-27 was alomost similar together and the possibilityof misidentification was greater in the G-banded preparations. 4. 1/29 Robertsonian translocation and other abnormalities were not observed among 11 Korean native and 53 crossbred males. This result is considered in relation to limited data and further investigation based on larger samples may be necessary for definite conclusion.

• Environmental Mutagens and Carcinogens
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• v.22 no.2
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• pp.90-96
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• 2002

Benzene is a widespread human carcinogen, inducing leukemia and hematotoxicity. Exposure to benzene metabolites has been shown to cause genetic damage, including aneusomy and chromosome aberrations. Fluorescence in situ hybridization(FISH) procedure was used to determine if the benzene metabolite, 1, 2, 4-benzenetriol(BT), hydroquinone(HQ) and trans, trans-muconic acid(t,t-MA) induced specific chromosomal change in HL-60 cells. Treatment with BT, HQ and t,t-MA resulted in the induction of monosomy 8 and 21 in HL-60 cells in a dose-dependent manner. All of these metabolites also induced trisomy 8 and 21, but no correlation between frequencies of trisomy and concentration was found. Translocations between chromosome 8 and another unidentified chromosome ［t(8:\ulcorner)］, and between chromosome 21 and another unidentified chromosome ［t(8:21)］ were found. However, translocation between chromosome 8 and 21 ［t(8:21)］ was not found. Results indicate that the benzene metabolites, BT, HQ and t,t-MA, induce chromosome specific numerical and structural aberrations, and the fluorescence in situ hybridization (FISH) approach may be a useful and powerful technique for detection of aneuploidy.

• Clinical and Experimental Reproductive Medicine
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• v.13 no.2
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• pp.145-151
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• 1986

The purpose of this study is to investigate the cytogenetic characteristics of Down's syndrome in Korea. For this study, selected were 92 patients who were diagnosed as Down's syndrome by the chromosomal analyses, among 115 patients who were supected of Down's syndrome and referred to the Cytogenetic Laboratory, Institute of Reproductive Medicine and Population, Seoul National University, for 2 years from January 1984 to December 1985. Among 92 patients with Down's syndrome 83 (90.2%) had G-trisomy, 4 (4.3%) had translocation, and 2 (2.2%) had mosaicism of normal and G-trisomic cell lines. Two patients of the remaining 3 had both G-trisomic and translocation, 47, XX, t (1:21) (p32:q22), +21, 47, XX, t (9:11) (q34:q14), +21. The remaining 1 patient had 47, XY, +mar.

• Journal of the Korean Society of Tobacco Science
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• v.17 no.1
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• pp.49-56
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• 1995

Morphology, chromosome and transmission of potato virus Y(PVY) of the green peach aphid populations collected from tobacco fields were examined. Based on the morphological characteristics, especially values of linear discriminant functions and length of ultimate rostral segment, 8 green peach aphid clones with different color morphs could be divided into two groups, namely Myzus persicae and M. nicotianae, according to the proposal by Blackman in 1987. The red (RED)-, Brown (BRN)- and green-colored (GR1, GR2) aphid clones belonged to the M. nicotianae type, while the pale green (PG1, PG2, PG3) and dark brown (DBR) clones to the M. persicae type. The karyotype of the pale green-colored clone (PG1, M. persicae type) appeared normal and was 2n=12 with no indication of chromosomal translocation. On the contrary, in the green-colored aphid clone (GR1, M. nicotianae type), translocation and dissociation of autosome 3 were often found, having karyotype of 2n=13. Both of the above aphid clones transmitted PVY-VN to tabacco plants (cv. Burley 21), but the GR1 clone had higher transmissibility than the PG1 clone.