• Clinical and Experimental Reproductive Medicine
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• 제26권3호
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• pp.467-474
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• 1999

Objectives: Cytogenetic investigations were carried out on 770 women with primary (n=560) and secondary amenorrhea (n=210) to determine the frequency of chromosomal or genetic causes of amenorrhea. Materials and Methods: In 770 women with primary amenorrhea (n=560) and secondary amenorrhea (n=210), chromosomal analysis were performed. Results: 1) The most prevalent age group is 16-20 years of age group with primary amenorrhea and 26-30 years of age group with secondary amenorrhea. 2) Out of 560 cases of primary amenorrhea, 343 cases (61.3%) had the normal chromosome constitution and 217 cases (38.7%) had the abnormal chromosome constitution including 46,XY. 3) In 217 cases of abnormal chromosome of primary amenorrhea, 57 cases (26.3%) had 45,X and 34 cases (15.8%) had the 46,XY, 24 cases (11.0%) had 45,X/46,X,i (Xq), 23 cases (10.6%) had 45,X/46,X,+mar and 14 cases (6.6%) had 45,X/46,XY. 4) Out of 210 cases of secondary amenorrhea, 181 cases (86.2%) had the normal chromosome constitution and 29 cases (13.8%) had the abnormal chromosome. 5) In 29 cases of abnormal chromosome of secondary amenorrhea, 7 cases (24.1%) had 45,X/46, X,i (Xq), 4 cases (13.8%) had 45,X/46,XX. Conclusion: High percentage of chromosomal abnormalities was diagnosed in primary amenorrhea and most of them were sex chromosome anomalies. In secondary amenorrhea, the prevalence was lower than primary amenorrhea, so a preselection of patients with secondary amenorrhea for cytogenetic investigations seems to be necessary.

• 한국작물학회:학술대회논문집
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• 한국작물학회 2022년도 추계학술대회
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• pp.221-221
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• 2022

Chromosome breakage occurred by DNA methylation inhibitor. Zebularine is known as DNA methylation inhibitor and suitable for water solubility among different DNA methylation inhibitors as 5-Azacytidine and 5-aza-2'-deoxycytidine. We used zebularine as mutagen according to different methods by roots absorption and seed imbibition. After zebularine treatment, DNA methylation inhibitor, we observed mitotic chromosome behavior what is different according to two different treatment methods. First, seed imbibition treatment in 1,000 μM of zebularine solution for 72 hours in dark conditions. The second treatment to seedlings of Keumkang was also treated in 1,000 μM of zebularine solution for 72 hours after germination. Root and shoot showed different elongations in each treatment. Root absorption treatment(3.01±0.48, 2.00±0.26) showed the shortest elongation in root and shoot than control(8.16±0.61, 4.03±0.48) and seed imbibition treatment(4.33±0.80, 2.48±0.36). It can be explained root tip meristematic cell activity was damaged by DNA methylation inhibitor. Primary root tips were collected in DW for 24 hours at low temperature(0℃) and fixed in fixation solution for 3 days to chromosome observation in mitosis. Mitotic index, chromosome structure and chromosome aberration were observed by phase-contrast microscope. Mitotic index of the control(0.29) showed twice mitotic cells as the treated groups(imbibition 0.15, absorption 0.14). Observation of chromosomes showed some short chromosomes and loosen chromosomes affected by zebularine. It is considered because of zebularine damage DNA in mitosis. We observed "gap by chromosome breakage" in chromosomes that have loose parts between centromere and telomere. It seems demethylation of zebularine occurs chromosome breakage.

• 대한두경부종양학회지
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• 제16권1호
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• pp.3-8
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• 2000

Background and Objectives: Adenoid cystic carcinoma of salivary glands is characterized by insidious growth over many years, local recurrences, and distant metastasis and classified to three distinct histologic subtypes: tubular, cribriform, and solid. The solid type is known to have the worst prognosis. However, histopathologic heterogeneity is observed in tumors from the same patient. We have attempted to elucidate the genotypic differences, characterized by polysomies of chromosome 17, in adenoid cystic carcinoma according to the phenotypic histopathologic heterogeneity. Materials and Methods: Fluorescence in situ hybridization was performed on formalin-fixed paraffin blocks from seven patients with head and neck adenoid cystic carcinoma, using the centromeric $\alpha$-satellite probe of chromosome 17 to detect nuclei exhibiting polysomy. The difference in polysomeric chromosome expression in cribriform, tubular, solid type and type I, II, III according to the Szanto classification was analyzed. Results: Polysomy of chromosome 17 was found in 15.28% of the cribriform type, in 15.68% of the tubular type, and in 18.87% of the solid type. The proportion of polysomy was statistically higher in the solid type than in the cribriform type(p<0.05), and the proportion of polysomy increased progressively from type 1 to type 3, but this trend was statistically insignificant(p>0.05). Conclusion: We suggest that there may be genetic variations in tumor from the same patient depending on the histopathologic heterogenetiy in adenoid cystic carcinomas.

• 한국자원식물학회:학술대회논문집
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• 한국자원식물학회 2019년도 추계학술대회
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• pp.24-24
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• 2019

Iris L. is a perennial genus comprising approximately 300 species worldwide, with the greatest number of endemic species occurring in Asia. Iris is one of the largest genera in the family Iridaceae and includes ca. 15 species native to Korea. Although chromosome number change, karyotype restructuring, and genome size variation play an important role in plant genome diversification, understanding the karyotype variation in Korean Iris species has been hampered by the wide range of base chromosome number (x = 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 22) reported to date. This study documents the chromosome numbers, karyotype structure and genome size variation in Iris ruthenica K. Gawl., an endangered species in Korea obtained using classic Feulgen staining and flow cytometry. The chromosome number of all investigated plants from the nine populations was 2n = 42. All individuals studied possessed metacentric and submetacentric chromosomes. The genome size of the I. ruthenica in eight wild populations ranged from 2.39 pg/1C to 2.45 pg/1C ($2.42{\pm}0.02pg/1C$: $mean{\pm}SD$). This study provides the first report of genome size variation in Iris ruthenica in Korea. This study lays foundation for cytogenetic further analyses employing by fluorescence in situ hybridization (FISH) to better understand the chromosomal evolution in this species and in the whole genus.

• Neonatal Medicine
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• 제15권2호
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• pp.200-206
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• 2008

안면 기형, 삼각두, 뇌량 무형성, 감각 신경성 난청, 시각장애, 심기형, 심근병증, 폐동맥 고혈압, 배꼽 탈장과 생식기 기형이 있는 환아에게 동반된 9번 염색체 단완이질염색질 부위의 첨가를 발견하여 9번 염색체 p13 부위의 첨가와 연관된 다발성 기형의 발생을 보고하는 바이다.

• 한국동물학회지
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• 제15권3호
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• pp.95-100
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• 1972

回復複製(unscheduled DNA synthesis or repair replication)와 染色體交換 및 分裂活動과의 相關關係를 추구하기 위해 X-線을 處理한 4種의 哺乳動物 細胞를 材料로 回復複製 時期와 線量反應을 調査하였다. 回復複製는 調査한 4種의 細胞에서 모두 일어나고 그 率은 照射線量에 比例하며 細胞 種類에 따라 差가 난다. 그러나 回復複製가 일어나는 時期는 細胞 種類에 관계없이 X-線 照射후 2時間까지 지속되고 있다. 또 回復複製의 相對量은 細胞의 種族染色體數, 分裂活動 및 染色體交換率과 직접적인 관련이 없다. 分裂活動能力과 染色體交換은 다 線量에 比例하나 그 率은 逆比例 관계를 나타낸다.

• 한국동물학회지
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• 제13권1호
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• pp.15-20
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• 1970

초파리의 성 염색체의 구성 여하에 따라 그 제 3염색체의 분리가 달라지는가를 조사하기 위하여 성 염색체의 구성이 다른 8가지 인자형을 만들고 제 3염색체 marker로서 e와 se를 이용하여 se의 분리를 k값으로 검토하고 아울러 성비를 조사 검토한 결과는 다음과 같다. 1. se의 분리 즉 k 값은 인자형간에 그리고 성간에 매우 유의적인 차를 보였으며 인자형과 성과의 상호작용도 유의적 차이를 보여 주었다. 이것은 분명히 se 제3염색체의 분리가 성 염색체의 구서에 영향을 받은 것을 말해 준다. 2. k(여) 값이나 k(남)값은 다 같이 인자형간에 유의적 차이를 볼 수 없다. 3. se자손의 성비는 인자형간에 매우 유의적 차이를 보였으나 e자손에서는 뚜렷한 차이를 볼수 없었다. 4. 평균적으로 k(남) 값은 k(여)값보다 높고, se자손의 성비는 e자손의 성비보다 높았다. 5. 이러한 결과는 어떤 종류의 prezygotic selection이 작용하는 것으로 해석할수 있는데, 즉 e 제3염색체와 Y염색체의 조합이 수정전에 감수되는 것으로 생각할 수 있다. 이러한 문제는 종래 초파리 등에서 실시했던 생존력 추정을 재 평가할 필요성을 말해주는 것이다.

• Animal Bioscience
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• 제36권2호
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• pp.191-199
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• 2023

Objective: This study aimed to investigate the significant single nucleotide polymorphisms (SNPs) and genes associated with nine reproduction and morphological traits in three breed populations of Chinese goats. Methods: The genome-wide association of nine reproduction and morphological traits (litter size, nipple number, wattle, skin color, coat color, black dorsal line, beard, beard length, and hind leg hair) were analyzed in three Chinese native goat breeds (n = 336) using an Illumina Goat SNP50 Beadchip. Results: A total of 17 genome-wide or chromosome-wide significant SNPs associated with one reproduction trait (litter size) and six morphological traits (wattle, coat color, black dorsal line, beard, beard length, and hind leg hair) were identified in three Chinese native goat breeds, and the candidate genes were annotated. The significant SNPs and corresponding putative candidate genes for each trait are as follows: two SNPs located on chromosomes 6 (CSN3) and 24 (TCF4) for litter size trait; two SNPs located on chromosome 9 (KATNA1) and 1 (UBASH3A) for wattle trait; three SNPs located on chromosome 26 (SORCS3), 24 (DYM), and 20 (PDE4D) for coat color trait; two SNPs located on chromosome 18 (TCF25) and 15 (CLMP) for black dorsal line trait; four SNPs located on chromosome 8, 2 (PAX3), 5 (PIK3C2G), and 28 (PLA2G12B and OIT3) for beard trait; one SNP located on chromosome 18 (KCNG4) for beard length trait; three SNPs located on chromosome 17 (GLRB and GRIA2), 28 (PGBD5), and 4 for hind leg hair trait. In contrast, there were no SNPs identified for nipple number and skin color. Conclusion: The significant SNPs or genes identified in this study provided novel insights into the genetic mechanism underlying important reproduction and morphological traits of three local goat breeds in Southern China as well as further potential applications for breeding goats.

• Tuberculosis and Respiratory Diseases
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• 제49권1호
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• pp.49-59
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• 2000

연구배경 : 암 발생 및 진행 과정 중 암유전자의 활성화, 종양억제유전자의 불활성화 등이 중요한 역할을 한다고 알려져 있으며, 종양억제유전자의 불활성화는 많은 경우에서 하나의 대립형질의 돌연변이와 다른 대립 형질의 결손에 의한다고 한다. 따라서 암 발생 및 진행에 관여하는 특이 종양 억제유전자를 찾고자 종양 억제유전자 불활성의 특성인 LOH를 분석하는 다양한 연구를 시행하여 왔다. 아직까지 소세포폐암과 관련된 특이 유전자가 확인되지 않았기 때문에 원발성 소세포폐암의 발생과 진행에 병인적 중요성을 갖는 종양억제 유전자를 찾고자 시행하였다. 대상 및 방법 : 연세대학교 의과대학 세브란스병원에서 원발성 소세포폐암으로 진단된 15명의 남자 환자를 대상으로 하였다. 암 조직과 이에 대응하는 정상 조직의 파라핀포매 블록으로부터 DNA를 추출하였으며, 염색체 5번 장완에 위치하는 19개의 현미부수체 표지자들을 이용하여 PCR-LOH 분석을 시행하였다. 결과 : 1) 15예 중에서 LOH가 1개라도 관찰된 경우는 10예로 66.7%이었다 (Fig. 1). 2) LOH가 있는 10예 중 검사를 시행한 모든 표지자들의 결혼이 있는 경우는 2예(SCLC1, SCLC3)로써 13%이었다 (Fig. 1). 3) 경사를 시행한 19개의 표지자들중 5개에서 50% 이상의 LOH 빈도를 확인할 수 있었는데 5q14-15에 위치하는 D5S409와 5q23-31에 위치하는 D5S404와 사이인 18.3 cM 간격에서 57.1%, 5q31.l에 위치한 IRF-1에서 63.6%, 5q31.3-33.3에 위치하는 D5S209에서 54.5%, 5q34-35에 위치하는 D5S400에서 54.5%, 그리고 5q34-qter에 위치하는 D5S429와 5q35.2-35.3에 위치하는 D5S498사이인 5.5cM 간격에서 75%의 빈도로 관찰되었다(Table 1, Fig. 1, Fig. 2). 4) Shifted bands는 15예 중 3예에서 관찰되었는데 SCLC8에서 26.3%, SCLC 6 에서 5.3%, SCLC14 에서 5.3%의 altered loci가 관찰되었다 (Fig. 1, Fig. 2). 5) Shifted bands는 검사한 총 285 loci 중 2.5%인 7 loci에서 관찰되었다 (Fig. 1). 결론 : 염색체 5번의 장완에는 원발성 소세포폐암 일부에서 발생 및 진행에 관여하는 최소 5개의 종양억제유전자좌가 존재할 것으로 생각되며, 향후 특이 유전자를 찾기 위한 추가적인 노력이 있어야 할 것으로 생각된다.

• 한국수정란이식학회:학술대회논문집
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• 한국수정란이식학회 2004년도 제4회 발생공학 국제심포지움 및 학술대회
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• pp.15-17
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• 2004