21. Fragile site induction by excess thymidine in neuroblastoma patients

최인장,정용욱,김대광,김홍태,장성익 대한체질인류학회 1991 대한체질인류학회 학술대회 연제 초록 Vol.34 No.-

5-bromodeoxyuridine으로 치환된 CHO세포에 유산암모니움에 의해 제한효소 AluI으로유발된 염색체 이상과 자매염색분체 교환빈도의 증가

최인장,이인환,장성익 대한해부학회 1991 Anatomy & Cell Biology Vol.24 No.1

Southern blot hybridization의 새로운 기법

최인장,정용욱,김대광,장성익,이인환 대한해부학회 1991 Anatomy & Cell Biology Vol.24 No.2

Duchenne씨 근 이영양증(DMD) 가계에서의 pERT 87-8 유전자의 변이

정용욱,김홍태,이인환,장성익,김대광,최인장 게명대학교 의과대학 1991 계명의대학술지 Vol.10 No.2

Duchenne muscular dystrophy(DMD) is a severe human X-linked degenerative disorder of muscle with fatal evolution before the end of third decade of life. It affects about 1 in 3500 live born males. The high disease frequency correlates with the high rate of new mutations, estimated to represent one-third of all DMD cases, because this gene is very large size. The DNA of a DMD-deletion patient was used to isolate 7 pERT clones that were absent from this patient's DNA. One of these deletion specific clones, pERT(DXS164), was found to be tightly linked to the DMD gene. We investigated DMD family in which 2 sons expired from this disease. We used the pERT 87-1, pERT 87-30 as genomic probes in Southern blot hybnrdization. The pERT 87 for a large gene is located in band Xp21 at DMD locus, sparing more than 2,000 kb of genomic distance. And we found abnormal bands, (8.5/5.2/5.3)kb, in Hind Ⅲ/pERT 87-8 combination of Ⅱ-2, Ⅲ-5, Ⅳ-2, Ⅳ-4, that is, there was 3.2kb extra band. Those who have abnormal bands are normal phenotypically. They are, probably carrier and the gene of mother's DMD locus(Ⅱ-2) is ne mutation. In karyotyping, no chromosomal alteration was found in X chromosome of all cases.

염색체 이상의 유전상담

장성익,최인장 啓明大學校 醫科大學 1984 계명의대학술지 Vol.3 No.2

저자들은 최근 모친이 Down syndrome의 상호전좌 보인자로서 Down syndrome형제를 출산한 가족을 대상으로 유전상담한 결과 유전상담이 가족에만 국한 시킬것이 아니라 사회적 목표를 향해 counselling해야 할 것으로 생각되었다. 특히 우리나라에서 유전의료 service를 정착 시키기 위해서는 하루빨리 전문 staff를 양성하여 임상 각과와 공동작업을 하고 지역간의 협조, 나아가서 전국 network化 하여 체계있는 유전상담을 실시 하므로서 유전병에 대한 국민계몽 및 재발위험율을 줄여 나가서 보다 건전한 사회가 되도록 노력 해야 할 것으로 생각된다. Genetic counselling is the process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder, the probability of developing and transmitting it and of the ways in which this may be prevented or ameliorated. In order to set up foundation of genetic medical services, it is very important, especially in Korea, that producing speciality for genetic counsellors. It will have been noted that the emphasis so far has been placed on ensuring that a correct diagnosis and risk estimate have been reached and that those being counselled have correctly understood the situation.

B 細胞融合과 細胞選別 方法

張性翼,崔寅章 啓明大學校 醫科大學 1985 계명의대학술지 Vol.4 No.2

저자들은 BALB/C mouse의 비장細胞와 myeloma cell line인 P₃-U₁細胞를 다른 농도의 PEG로 融合하여 融合된 細胞를 HAT 배지 및 HAT와 RPMI 혼합배지액으로 細胞選別한 것을 요약하면 다음과 같다. 1. BALB/C mouse의 染色體 數는 40個였고 P₃-U₁cell의 染色體 數는 61-64個 사이였으며 이들 細胞間의 融合細胞의 染色體 數는 84個-94個 사이로 감소되었음을 알 수 있는데 이것은 細胞融合 즉시 강력한 분열과정 中에서 一部 染色體의 결손상태로 기인된 것으로 생각되었다. 2. 細胞融合은 41% PEG를 使用했을때 融合된 細胞는 14%였고, 45% PEG에서는 21%, 50% PEG를 使用했을 때 28%였다. 3. 細胞融合후 細胞選別을 위하여 HAT 培養液만 使用했을 때는 41% PEG로 融合細胞를 만들었을 때는 5%에서만 生存하였고, 45% PEG에서는 13%, 50% PEG에서는 27%였으나, HAT와 RPMI 혼합액으로 選別한 결과 각각 5%, 21%, 38%였다. 이상의 成積을 종합해 보면 B cell의 細胞融合은 50% PEG가 가장 좋았으며 細胞融合은 HAT 단독보다 HAT와 RPMI를 혼합한 培養液으로 하는것이 더 효과적이었음을 알 수 있었으며 이 方法은 monoclonal antibody를 만드는 技術에 가장 必要한 technique가 될 것으로 생각된다. For the the basic technique of the monoclonal antibody, cell fusion was performed with spleen cell of BALB/C mouse and myeloma cell line treated with 41% PEG, 45% PEG and 50% PEG, and cell selection was performed with exchange of HAT media only and HAT contained RPMI plus 15% FCS for one week respectatively. The results were summerized as follows; 1. The number of chromosome on lymphocyte of BALB/C mouse was 40 and in the P₃-U₁cell line it was variable from 61 to 64 numbers. 2. There was a strong tendency for loss of chromosomes in fused cells as a range 84 to 94 chromosomal numbers. 3. For the cell fusion, we found it was the best status treated with 50% PEG and for the cell selection, it was better condition used to HAT and RPMI plus 15% FCS than used to HAT only.

Chlorambucil이 수컷 생쥐의 Sertoli 세포의 미세구조에 미치는 영향

최인장,장성익,김덕훈,이인환 啓明大學校 醫科大學 1988 계명의대학술지 Vol.7 No.2

This study was investigated the effect of chlorambucil (Leukeran) on the Sertoli cell of male mouse by electron microscope. Chlorambucil suspended in the 0.5N sodium bicarbonate (pH 8.0) was injected into the male mouse by intraperitoneal at doses level (16mg/kg) for one week, 3 weeks, respectively. The results were as follows; 1. One week after adminstration of chlorambucil, swelling and their inner cristae distruption of some mitochondria, mild vacuolation of cytoplasm, moderate dilation of smooth endoplasmic reticulum (SER) were presented. But, lipid droplet and secondary lysosome were severely increased. 2. After 3 weeks, the dilation of SER and vacuolation of some cytoplasm, the swelling and inner cristae destruption of most mitochondria were appeared. The lipid droplet and lysosome were midly increased. 3. After 5 weeks, most mitochondria were swelling and their membrane were almost disrupted. The dilation of SER and vacuolation of most cytoplasm were almost severely increased. But lipid droplet and lysosome were not observed. As a results, the duration of the chlorambucil administration is longer, the degeneration of the cytoplasm organelles is increased in comparison with control group. On the other hand, nucleus is not degenerated.

Densitometry를 이용한 사람염색체 High-resolution Band 연구

최인장,김덕훈,장성익,이인환 啓明大學校 醫科大學 1988 계명의대학술지 Vol.7 No.2

This paper was performed to investigate the satellite DNA of human chromosome 1, 9, 16 and Y on male Korean by high-resolution banding and densitometric graph method. The results are summarized as follows: 1) The satellite DNA Ⅰ was observed the short arm peak of the centromere circumference of each chromosome. 2) The satellite DNA Ⅱ appeared the short arm peak of the centromere neighborhood on the 1, 9, and 16 chromosome. 3) The satellite DNA Ⅲ was presented the long arm peak of the contromere circumference of the 1, 9, and 16 chromosome. 4) The high peak of each chromsome was infered the heterochrochromain region, but the low peak was infered the euchromatin.

중추신경계에 발생한 미성숙 기형종의 세포유전학적 특성

최인장,장성익,김동원 啓明大學校 醫科大學 1993 계명의대학술지 Vol.12 No.2

외배엽, 내배엽과 중배엽에서 각각 유래한 조직들이 함유된 미성숙 기형종은 2개월된 영아 측뇌실의 측두각과 후두각이 만나는 삼각부위에서 발견하였다. 미성숙 기형종의 크기가 커서 정확한 기원부위를 결정하기는 어려웠다. 미성숙 기형종 세포를 배양하여 4세대까지 핵형분석을 G-banding법으로 실시한 결과를 요약하면: 세포유전학적 특성은 염색체 22의 단배체인 45,XX,-22가 stem line이었으며 정상핵형은 side line으로 밝혀졌다. 염색체 22의 소실외에 성염색체를 포함한 여러염색체들이 무작위적으로 소실되었다. Hypotetraploid와 염색체 12의 삼배체는 관찰된 48개 세포중 각각 3세포와 2세포에서 관찰되었다. 계대배양을 통한 정상핵형세포들의 증가가 많으므로 염색체 연구를 위해서는 되도록 일차배양된 세포에서 실시하는 것이 미성숙 기형종의 세포유전학적 특성을 밝히는데 유용할 것으로 사료되었다. A 2-month-old infant presented with immature teratoma, containing tissues derived from extoderm, endoderm and mesoderm, and detected at trigone in lateral ventricle. The size of teratoma was large at discovery that an exact localization of the origin was not possible. Karyotyping was performed on this tetratoma by G-banding from primary culture to third passage. Cytogenetic characteristics of this immature teratoma were hypodiploid stem line(45,XX,-22) with a related normal diploid side line. In addition to chromosome 22, other chromosome including gonsome were lost randomly. Hypotetraploid and trisomy 12 were observed only 3 cells and 2 cells from 48 cells analysed respectively. We wish to recommend that whenever the culture method is used chromosome analysis should be performed on cells from primary cultures as soon as possible, because the rapid growth of normal cells in vitro from immature tetratomas was observed in passage 1 to passage 3.

단완 12부위에서 장완 13부위의 완간역위를 가진 22번 염색체 모자이크삼체성

최인장(Choi In Jang),이인환(Lee Ihn Hwan),고복현(Ho Bok Hyun),장성익(Chang Sung Ik) 대한체질인류학회 1991 대한체질인류학회지 Vol.4 No.2

정상분만과 정상의 신체발육한 11세 환아의 주된 증상은 지능장애였으며 그의 관찰된 임상소견으로 눈꺼풀 틈새의 하사성, 넓고 납작한 코, 긴 인중, 작은 하악골 및 비정상적인 귀여다. 사지와 생식기에는 전혀 이상이 없었으며 흉부와 복부에도 특이할 만한 이상은 발견되자 않았다. 말초혈액세포를 이용한 Gㆍband와 NORㆍband로 22번 염색체 모자이크 삼체성이였으며, 특이한 22번 염색체는 일반적인 길이와 완비(arm ratio)를 기초로 하여 단완 12부위에서 장완 13 부위의 완간역위를 가진 산물로 밝혀졌다.