Frquency of Aldehyde Dehydrogenase 1 Isozyme Deficiency in Koreans : A Pilot Study

백용균 ( H . Werner Goedde,Dharam Pal Agarwal,Yong Kyun Paik ) 한국유전학회 1983 Genes & Genomics Vol.5 No.3

ALDH I isozyme deficiency was studied in a Korean sample. Out of 75 subject, 26.7% showed a lack of ALDH 1 isozyme.

C-분염(分染)에 의한 사람의 염색체 다형성에 관한 연구

최수경,백용균,이형환,Choi, Soo-Kyung,Paik, Yong-Kyun,Lee, Hyung-Hoan 대한생식의학회 1989 Clinical and Experimental Reproductive Medicine Vol.16 No.1

사람에 있어서 C-이질염색질의 다형성을 관찰하기 위하여, 일반환자 234명(여자 165, 남자 69)의 말초혈액백혈구을 배양하였다. 슬라이드 제작후 C-분염법(NOR-염색법, GC-분염법 포함)에 의해 염색체 1, 9, 16번 그리고 Y의 이질염색질(qh)과 D와 G군의 부수체와 단완의 변이를 관찰한후 변이를 나타낸 환자와 임상적 고찰을 함께 실시 하였다. I. 234명중 변이세포를 갖는 사람은 91명(여 68, 남 23)이었으며, 변이세포를 갖고 있지않은 사람은 143명(여97, 남 46)이다. 변이세포를 갖고있는 91명에 대한 총변이수는 125예로서 다음과 같다. 1) 염색체 1, 9, 16번과 Y의 qh변이의 수는 99예 였고, 2) D와 G군의 부수체(Satellite)와 단완의 변이의 수는 21예 였으며, 3) 염색체 9번의 편동원체 역위인 경우가 5예였다. II. 염색체 1번, 9번, Y에서 이질염색질이 크게 증가한 환자 12명의 병력을 조사하여 다음과 같은 결과을 얻었다. 1) 생식기관의 이상(reproductive failure)인 경우가 3예 (1qh+)였고, 2) 3회이상의 반복유산(habitual abortion)인 경우가 3예, 즉 inv(9)이 2예, 1qh+가 1예 이고, 3) 암의 초기상태(precancerous state)가 2예, 즉 inv(9)이 1예, 1qh+가 1예, 4) 결핵(tuberculosis)은 1예(1qh+), 5) 정상(normal)은 3예, (1qh +2예, Yqh+1예)였다. 위와같은 결과를 통하여, 본 실험에서의 염색체 1, 9, 16번 그리고 Y의 qh의 변이중 이질염색 질의 감소(qh-)는 단순한 다형현상이라 생각되며, 이질염색질의 증가(qh+)와 9번염색체의 편동원체 역위현상은 임상적 질환과 상당한 연관성이 있다고 사료된다. 추후 이러한 C-이질염색질의 다형성과 임상적 이상과의 관계에 대한 지속적인 연구가 필요하다고 사료된다. Lymphocyte chromosome preparations obtained by the micromethod (Arakaki and Sparkes, 1963) from 234 our patients (165 females and 69 males) were analysed by C-, NOR-and GC-bandings for chromosome heteromorphisms. The centromeric regions of chromosomes 1,9,16 and the long arm of the Y chromosomes were tested for C heteromorphism. Minor variations found in this study such as inv(9), prominant short arms and large satellites of acrocentrics were also examined by appropriate banding techniques. Of the 234 probands, a total of 125 different C-variants were detected, and the average frequency of the variants per individual was estimated to be 0.53. The observed variations were as follows : 99 qh variants, 5 pericentric inversions of chromosome 9, and 21 satellite and/or short arm variants.

반복유산을 경험한 384부부의 세포유전학적 연구

최수경,민응기,노성일,백용균,유명수,Choi, Soo-Kyung,Min, Eung-Ki,Roh, Sung-Il,Paik, Yong-Kyun,Lyu, Myung-Soo 대한생식의학회 1991 Clinical and Experimental Reproductive Medicine Vol.18 No.2

During the years 1984 to 1989, in order to determine of chromosome abnormalities are associated with recurrent spontaneous abortions, cytogenetic studies were performed 384 couples. Abnormal karyotypes were found in 51(13.3%) couples. There was no apparent relation with the number of abortions. The abnormalities were as follows: 17(4.4%) balanced translocation; 15(3.9%) mosaicisms; 17(4.4%) pericentric inversion; 2(0.5%) addition or isochromosome. Chromosome abnormalities were observed in 34(67%) of the wives and 17(33%) of the husbands. In addition, we detected polymorphic variants of chromosomes in 89(23.2%) subjects. Reciprocal translocations(13/17) were more common than the robertsonian type(4/17). All of the mosaicisms were associated with the sex chromosomes in 10 females and 5 males subjects. Pericentric inversions were most common in chromosome 9. Compared to previously studied general populations, significantly higher frequencies of translocations, mosaicisms and inversions were found in couples with repetitive spontaneous abortion. This suggests that couples should have chromosome studies after two or more abortions.

한국의 정상인 및 간경변증 환자에서의 Pi 표현형의 출현빈도

기춘석(Choon Suhk Kee),박경남(Kyung Nam Park),이민호(Min Ho Lee),이종철(Jong Chul Lee),안명주(Myung Ju Ahn),차호진(Ho Jin Chan),함준수(Joon Su Ham),조율희(Youl Hey Cho),백용균(Yong Kyun Paik) 대한소화기학회 1987 대한소화기학회지 Vol.19 No.1

N/A Alphai-antitrypsin is a major component of alpha-1-electrophoretic band of serum protein. Because alphai-antitrypsin is a broad spectrum inhibitor of proteolytic enzymes such as trypsin, elastase or collagenase, it is so called as Pi (Protease inhibitor) system. It is generally believed that the inhibition of granulocytic proteases by alphai-antitrypsin is most important for protecting the human organism against autodigestion. Alphai-antitrypsin is under genetic control, and more than 30 codominant variant alleles at a single chromosomal locus have been identified. Some of these alleles (particularly the alleles z, s, null) have been associated with serum alphai- antitrypsin deficiency of varying degree and with pulmonary emphysema or juvenile liver cirrhosis by autodigestion of normal tissue. We determined Pi phenotypes by IEF (isoelectric focusing) method in 440 normal controls and 143 patient of liver cirrhosis probably at first in Korea. Our purposes were determination of the distribution of Pi phenotypes in Korea and the clinical significance of Pi phenotypes in liver cirrhosis patients. The results as follows; 1) The Pi gene frequencies of 440 normal population are M1 = 0.7447, M2 = 0.1682 M3 = 0.0761, M4 = 0.0046, I=0.0023, S =0.0011, G=0.0034 (p>0.10). 2) The Pi gene frequencies of 143 liver cirrhosis patients (male 97, female 46) are M1 = 0.7443, M2 = O.Zll63 M3=0.0489, P=0.0070, Z=0.0035, (p>0.70) and alphai-antitrypsin deficiency case was seen only one patient. 3) There was no significant difference between normal population and liver cirrhosis patients in Pi gene frequency (p>0.20). Therefore, in Korea, there was almost no clinical signinficance of alphai- antitrypsin deficiency in old age liver cirrhosis except Juvenile cirrhosis.

環境과 遺傳病

白龍均 대한의학협회 1979 대한의학협회지 Vol.22 No.10

小兒 急性白血病에 關한 細胞遺傳學的 硏究

이항,김도현,류명수,백용균 한양대학교 의과대학 1992 한양의대 학술지 Vol.12 No.1

Chromosomal analysis of human cancer is one of the most rapidly progressing areas of cancer reseach. Major advances in our understanding of the specificties of some of the karyotypic abnormalities have occurred as a result of the application of chromosome banding technique and improved methods of cell culture. The reports of cytogenetic analysis of acute leukemia are rare in Korea especially in childhood. This study was performed to investigate the patterns of chromosomal abnormalities among Korean children with acute leukemia. Fifty four newly diagnosed children with acute lymphocytic leukemia(ALL) and twenty children with acute non-lymphocytic leukemia(ANLL) diagnosed and treated at the Department of Pediatrics at Hanyang University from July 1984 to June 1992, were studied to determine the frequency and type of chromosomal abnormalities and their clinical significance. The results obtained were as follows. Twenty-two children(41%) with ALL revealed chromosomal abnormalities including 36% of non-T, non-B ALL, 40$ of T-ALL and 100% of B-All(n=1). Male patients were more frequently affected than female patients(48%, 33%): hyperdiploidy was the most common chromosomal abnormality(n=6) followed by hypodiploidy(n=5), Philadelphia chromosome(n=4), inv(9)(n=2), 14q+and del(6). Karyotypic abnormality was more frequently detected between 2-10 years of age(46%) and the incidence of structural changes had a tendency to increase with age. Hemoglobin and LDH levels were significantly higher in the pseudodiploid group, leukocyte counts were also higher in this group(highest in the Philadelphia positive ALL). Children with hyperdiploid karyotype survived longer than other chromosome group. Clonal abnormalities were normalized with anti-leukemic therapy in 25%(2/8) after remission induction, 100% at cessation of maintenance therapy. Three cases of chromosomal abnormalities were noted among 9(33%) long-term survivors:>50 hyperdiploid, hypodiploid, +5 del(9). Analysis of banded chromosomes revealed clonal chromosome abnormalities in 9 children(45%) with acute non-lymphocytic leukemia including t(8;21) were associated with children over 7 years of age. Association between chromosomal abnormalities and the FAB subgroup were demonstrated for the t(8;21) in M₂leukemia, t(6'11) in M₄and +8 in ??. Leukocyte counts were higher in the abnormal karyotype group though statistically not significant. Complete remission was achieved in 2(33%) out of 6 with normal chromosome and in 2(67%) out of 3 with abnormal chromosomes. Bone marrow cytogenetic studies should be performed in all acute leukemia patients at diagnosis to identify the high risk karyotype group who may require more intensive therapeutic approaches.

한국인의 유전적 표지 6종에 대한 집단 유전학적 연구

김영호,김광회,조율희,백용균 한양대학교 의과대학 1988 한양의대 학술지 Vol.8 No.2

Enzyme and protein polymorphisms were investigated in 218 probands from two population groups in Korea. ALDH 1 phenotypes were determined using hair-root samples after isoelectric focusing. EsD and C3 phenotypes were studied on agarose gel and AcP, 6-PGD and ADA on starch gel by means of conventional electrophoretic techniques. Out of 218 probands tested,about 30% showed a lack of ALDH 1 isozyme, and the frequency obtained has proved to be the lowest of all the Asiatic populations so far examined. The Korean frequency of EsD*2(0.351-0.365) was close to the values found in Japanese, while it was somewhat higher than other Asiatic populations. Our frequency value of AcP*B(0.782) was similar to that found in Japanese, but slightly higher than in Chinese; it was apparently higher than Europeans but lower compared to African Blacks. The PGD*C frequency (0.1043) in our samples corresponds well with results reported in other Orientals, while it is significantly higher than those reported from Europeans and African Blacks; the new variant PGD*Korea was not found in the present study. As for the ADA system, ADA*2 frequency (0.043) in this study is similar to that found in Chinese, but slightly higher than that of Japanese, it was somewhat intermediate between those reported from Europeans and African Blacks. Our frequency of C3*S (0.007) corresponds well with the previous observations among different Oriental populations, but it is apparently lower than in Europeans.

子宮頸癌 患者의 姉妹染色分體交換에 관한 硏究

裵東漢,金斗相,白龍均 한양대학교 의과대학 1984 한양의대 학술지 Vol.4 No.1

The frequency of sister chromatid exchange (SCE) was investigated in cultured lymphocytes from 22 women with cervical cancer together with 22 control women. For scoring SCE, 40 second-and/or third cycle metaphases were analyzed from each subject. The SCE frequencies were found to be 7.75±0.19 and 5.25±0.11 in cancer cases and controls, respectively. The average increase of SCE was about 50% in cancer cases, and the difference is highly significant (P<0.001). The individual SCE frequency (based on the number of SCE in 40 metaphases)among control subjects was relatively constant compared with cancer patients, and the variance of SCE frequency among controls was significantlt smaller than among cancer cases (P<0.01). The SCEs in both 6 cases of carcinoma in situ (CIS) and 1 case of cervical dysplasia were found to be significantly more in comparison to controls as well. In comparison to the lymphocytes from healthy controls, the cells responding to PHA-M in cultures from cancer cases showed no cell cycle retardation. The significance of this study in relation to the possibility of using SCE as a preclinical marker for early detection of cervical cancer has been discussed.

한국인 혈청 단백질의 집단 유전학적 연구

김용필,백용균 한양대학교 의과대학 1988 한양의대 학술지 Vol.8 No.1

Protein polymorphism is studied in more than 400 serum samples obtained from three population groups in Korea, and the characterization of the population grous has been performed. The PLG Gc, TF and a-1-antitrypsin subtype polymorphisms were determined after isoelectric focusing while Hp, Bf and C3 were studied by means of conventional electrophoretic techniques on starch gel, cellogel and agarose gel, respectively. The Korean frequencies for the two common alleles (Tf*C1 and Tf*C2) are close to teh corresponding figures observed in other Asiatic populations. However, the Tf*C2 is more frequent in our samples than in Japanese and Chinese and it is significantly higher compared to European and African populations. Tf*D and Tf*B variants are observed, their frequencies being low compared to that in other geographic regions. The a-1-antitrypsin polymorphism corresponds to the presence of the three Pi*M subtypes and the polymorphic gene frequencies are in accordance with earlier known estimates in Chinese populations. Three variants, Pi*J, Pi*S and Pi*G are observed in the frequencies less than 0.01. The Bf*F frequency in our samples is higher than those in Chinese,and a rare Bf*SO.7 variant is also found, its frequency being low compared to that in other geographic regions, however. The Korean frequencies of the three common Gc alleles (Gc*1F, Gc*1S and Gc*2) are not significantly different from those found in Japanese. Approximately the same Hp*1 frequency as observed in the Korean populations is found among various ethnic groups of Orientals. The frequencies of PLG*1 and PLG*2 are very similar to the corresponding values in Japanese, and our frequency of C3*S corresponds welll with the previous observations among different Oriental populations.

한국인의 효소계 6종에 대한 집단 유전학적 연구

신승주,백용균 한양대학교 의과대학 1988 한양의대 학술지 Vol.8 No.1

Enzyme polymorphism was investigated in more than 400 probands from three population groups in Korea. ALDH 1 phenotypes were determined using hair-root samples after isoelectric focusing. For phenotyping of sulfadimidine acetylation, a test dose of sulfadimidine was applicated to the fasting probands and acetylation rate after two hours was estimated in blood by a spectrophotometric method. ALADH and PGM1 common types were studied on starch gel and Glo on agarose gel by menasof conventional electrophoretic techniques. PGM1 subtyping was also performed by IEF. Out of 420 probands tested about 26% showed a lack of ALDH 1 isozyme, and the frequency obtained has proved to be the lowest of all the Asictic populations so far examined. A maximum likelihood estimate of our gene frequency in Ac(Ac*S=0.51) was similar to that in other Oriental populations, while the frequency value was ixtremely lower than in Europeans and African Blacks. The Korean frequency of ALADH*1 (0.955-0.970) was close to the values found in Japanese, while it was somewhat intermediate between those reported from Europeans and African populations in which ALADH*1 is known to be fixed. Our frequency value of AcP*B (0.81) was not significantly different from that found among other ethnic groups of Orientals; it was apparently higher than Europeans but lower compared to African Blacks; AcP*C could not be observed in our samples. The Glo*1 frequency (0.12) in our samples corresponds well with the results reported from Northern China, and the low frequency of this allele appears to be a characteristic of the Orientals. Two rare PGM1 phenotypes (8-1 and 6-2) were observed in this study beside the common genes 1 and 2. Average gene frequencies of PGM1 subtypes (PGM* 1a=0.65; PGM*2a=0.20; PGM*3a= 0.098; PGM*4a=0.040) observed in this study correspond with the data of Japanese populations and three monorities in Northern China. In our study, the sum of the allele frequencies of PGM*1a and PGM*3a was essentially the same as the PGM*1 allele frequency, PGM*2a and PGM*4a had a frequency of 0.242, which is similar to the PGM*2 allele.