• Clinical and Experimental Reproductive Medicine
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• 제26권3호
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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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• 제29권4호
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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.

• 한국독성학회:학술대회논문집
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• 한국독성학회 2002년도 Current Trends in Toxicological Sciences
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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)

• 한국작물학회지
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• 제43권4호
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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.

• 한국어류학회지
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• 제24권1호
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• pp.1-10
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• 2012

미꾸라지, 미꾸리 및 상반교배를 통해 유도된 종간 잡종의 세포유전학적 분석을 수행하였다. 미꾸라지와 미꾸리의 염색체 수는 각각 2n=48 (12M+4SM+32A), 2n=50 (10M+4SM+36A)이었고, 잡종군들의 염색체수는 각각 2n=49 (11M+4SM+34A)였다. 모든 그룹의 염색체는 동일한 arm number (NF=64)를 갖고 있었으며, 염색체 다형현상, 암수 간 이형의 염색체는 관찰되지 않았다. 적혈구의 크기, DNA 함량을 분석한 결과 잡종군들은 미꾸라지와 미꾸리의 중간 값을 나타냈다. 염색체의 NORs (nucleolar organizing regions)은 모두 동일한 중부염색체 단완부에서 Ag-positive signal이 나타났다. 이상의 결과는 미꾸라지의 1번 중부 염색체와 미꾸리의 차단부 염색체가 Robertsonian 형의 염색체 전좌 과정을 거쳤을 것을 시사한다.

• Clinical and Experimental Pediatrics
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• 제48권7호
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• pp.701-705
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• 2005

목 적 : 부모에게서 받은 유전정보는 자손의 유전표현에 필수적인 역할을 한다. 만일 어머니나 아버지로부터 받는 유전자가 서로 전좌가 일어날 경우 자손에게 부여되는 유전정보는 충분하지 않거나 필요이상으로 많이 받게 되어 자손에게 임상적 문제점을 일으킬 수가 있다. 임상적으로 정상인 부모로부터 태어나 정신발달이상과 행동발달지연을 보인 한 가족의 세포 유전학적인 연구와 임상 소견들을 관찰하여 원인규명과 앞으로의 예후를 평가할 목적으로 이 연구를 실시하였다. 방 법 : 대상 환아는 충남대학교병원 소아과에 입원한 11세의 여아와 가족의 총 5명으로 하였다. 환자의 병력청취와 이학적 검사, 가족력조사를 시행하였으며 원인을 밝히기 위하여 염색체 분석, FISH, 대사질환 분석, 정신 사회학적 검사인 소아정신과 상담과 치료받은 기록 및 사회성숙도 검사, 심리평가, EEG를 실시하였고, 성장발달검사를 위해 혈액검사와 방사선학적 검사, 내분비 검사를 시행하였다. 결 과 : 염색체 검사는 환아의 아버지와 언니는 정상이었고 환아의 어머니는 임상적으로 정상이었지만, 46, XX. t(15,18)(p11.2;p11.3)을 보였고, 남동생은 복부비만, 과식, 난폭한 행동, 괴성, 주의력 산만, 학습장애, 언어 발달 지연 등의 임상 소견을 보이면서 46, XY der(15) t(15;18)(p11.2;p11.3)이며 환아는 46, XX. der(18) t(15;18)(p11.2;p11.3)로 대사이상 검사상 미토콘드리아 기능 저하를 의심할 수 있는 소견과 내분비 검사상 성장호르몬 결핍소견을 보였고, 운동 및 신경정신과적 발달 검사상 행동발달 지연, 언어발달 지연, 사회성 발달지연 및 중등도의 정신 지체를 보였다. 결 론 : 정상인 아버지와 임상적으로 정상이면서 균형전좌(balanced translocation)인 46, XX. t(15,18)(p11.2;p11.3)를 갖는 어머니로부터 태어난 자녀들이 염색체 15번 장완과 18번 장완의 비균형 전좌(unbalanced translocation)로 인해 이형성(dysmorphogenesis)을 유발하고, 뇌의 전반적인 기능저하, 얼굴 모양의 기형, 성장지연, 면역력의 저하 등 다양한 임상소견을 보임을 알 수 있었다.

• 한국가축번식학회지
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• 제15권2호
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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.

• 한국환경성돌연변이발암원학회지
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• 제22권2호
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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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• 제13권2호
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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.

• 한국연초학회지
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• 제17권1호
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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.