한국인의 PGM1 , PI , PLG 및 POX 다형현상

백용균,Goedde, H Werner,조율희 한국유전학회 1988 Genes & Genomics Vol.10 No.3

Phenotypes and gene frequencies among 364 Koreans were studied for three serum protein polymorphisms (PLG, Pi with subtypes and POX) and one red cell enzyme polymorphism (PGM_1 with subtypes). Pi and PGM_1 subtyping was conducted by polyacrylamide gel IEF, PLG typing by immunofixation after IEF, and POX activity measurement by direct spectrophotometry. The allele frequencies obtained are as follows: Pi*M1=0.7665, M2=0.1690, M3=0.0577, P=0.0041, G=0.0014, V=0.0014; PLG*1=0.9835, 2=0.0027, A=0.0014, B=0.0124; PGM_1*a1=0.7060, a2=0.1580, a3=0.0948, a4=0.0330, 6=0.0014, 8=0.0069. The frequency distribution of POX activity in this study appears to show a unimodality, giving a mean activity of 221.01 U/1. The results are discussed in relation to earlier known estimates in Koreans and those obtained in other geographic populations.

Incidence of Viral Diseases and Occurrence of Three Unreported Viruses in Yams in Korea

Lee, Joong-Hwan,Park, Chung Youl,Cho, Ha-Jeong,Oh, Jonghee,Kim, Bong-Sub,Park, Eun Hey,Son, Chang-Gi,Lee, Su-Heon The Korean Society of Plant Pathology 2017 식물병연구 Vol.23 No.1

During 2012 to 2014, a survey for the presence of viral diseases in yam plants was carried out in a field of the Institute for Bioresources Research in Gyeongsangbuk-do, Korea. A total of 88 leaf samples were collected and tested by reverse transcription polymerase chain reaction using specific primer sets. Eighty-one samples were positive for Broad bean wilt virus 2 (BBWV2), Chinese yam necrotic mosaic virus (ChYNMV), Cucumber mosaic virus (CMV), Japanese yam mosaic virus (JYMV), and Yam mild mosaic virus (YMMV), whereas Yam mosaic virus (YMV) was not detected. Additionally, seven samples were negative for all viruses. Several samples exhibited mixed (double and triple) infections. Three viruses (CMV, JYMV, and YMMV) were detected for the first time in yam plants in Korea. A BLAST search showed that three viruses shared nucleotide identities with CMV-Ca (98%), JYMV-O2 (91%), and YMMV-TG_NH_1 (86%). Thus, our findings confirmed that yam plants cultivated in Korea were infected with multiple viruses with three of these viruses reported for the first time in Korea.

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.

순수 췌액 중 K-ras 유전자의 점 돌연변이 검출과 췌장암의 진단

최호순(Ho Soon Choi),박경남(Kyung Nam Park),조율희(Youl Hey Cho),이성구(Sung Koo Lee),김명환(Myung Hwan Kim),민영일(Young Il Min) 대한소화기학회 1997 대한소화기학회지 Vol.29 No.2

N/A Background/Aims: Despite considerable advances in imaging technique and diagnostic tool, early diagnosis of pancreatic adenocarcinoma and differential diagnosis from chronic pancreatitis remain elusive. Mutations in K-ras oncogene at codon I are detected at 75 100% in pancreatic carcinornas and are believed to be a critical event in early stage of oncogenesis. As most pancreatic cancers are adenocarcinoma derived from the ductal epithelium, proliferating cancer cells ot the ductal nest may puss into pancreatic juice. Therefore the author attempted to detect K-ras mutations in DVA ohtained from pure pancreatic juice collected endoscopically as a novel noninvasive diagnostic method to detect pancreatic carcinoma. Methods: K-ras mutations were examined using the two-step polymerase chain reaction(PCR) combined with restriction enzyme digestion, followed by single strand conformation polymorphism(SSCP) analysis and direct sequencing. Results: Specific mutations of K-ras gene at codon 12 were found in seven of nine(77.8%) chict cell carcinonas by enriched PCR and SSCP method. K-ras mutations were not detected in the pancreatic juice frorn IO healthy control subjects, five patients with chronic pancreatitis, or two patients with mucinous cystadenoma. The most frequently observed type of mutations at codon 12 was G - C transversion(GCiT - CGT), resulting in alteration of glycine to arginine. There was no apparent correlation between the location, size or stage of the tumor and the detection rate of K-ras mutations at codon 12. Conclusions: Detection of K-ras mutation at codon 12 in pancreatic juice is a highly specific diagnostic modality for pancreatic ductal carcinoma and may be valuable for early detection of pancreatic carcinoma and differentiation between chronic pancreatitis and carcinoma.(Korean J Gastroenterol 1997;29:234-246)

Population Genetic Data on the Thirteen CODIS Short Tandem Repeat Loci in Koreans : FISH를 이용한 정자내 성염색체 이상 분석 Sex Chromosome Abnormalities in Spermatozoa of Fertile and Infertile Men Detected by FISH

Han, Myun Soo,Hong, Seung Beom,Choi, Sang Kyu,Cho, Youl Hey,Jin, Han Jun,Kwak, Kyoung Don,Kim, Wook,Kim, Jong Bong,Son, Su Min 한국유전학회 2002 Genes & Genomics Vol.24 No.1

We analyzed variations at thirteen Combined DNA Index System (CODIS) short tandem repeat (STR) loci (CSF1PO, FGA, THO1, TPOX, vWA, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, and D21S11) in a sample from 130 unrelated individuals in the Korean population. Allele and genotype frequencies were determined using commercial PCR amplification kits. The Exact Test demonstrated that all loci were found to be no deviations from Hardy-Weinberg expectations (P>0.05). The distribution pattern of allele frequencies of the 13 STR loci reflected a common genetic affinity in contemporary populations from east Asians, but the Koreans are more closely related with the Chinese than to the Japanese and Vietnamese in east Asians surveyed so far. Based on the results of allele frequencies of the 13 CODIS STR loci, Koreans studied here were the most significantly different from those of African-American and Caucasian. For forensic testing, the power of discrimination (PD) index ranged from 0.760 at TPOX to 0.961 at FGA. The combined probability of match (PM) calculated from all 13 core CODIS STR loci was 1.94×10 exp (-14), which is highly informative. Therefore, the Korean 13 CODIS STR data could be useful for the regional specific and prerequisite references to the forensic community.

Forensic Genetic Analysis for the PowerPlex-16 System in the Korean Population

Han Jun Jin,Kyoung Don Kwak,Seung Bum Hong,Youl Hey Cho,Myun Soo Han,Wook Kim 한국유전학회 2007 Genes & Genomics Vol.29 No.4

We have analyzed 15 short tandem repeat (STR) markers included the Power Plex-16 (Promega) kit in a sample of 165 unrelated individuals from Korea. Allele frequencies and forensic parameters were calculated to provide an expanded and reliable forensic database. The Exact Test demonstrated that all loci surveyed here were found to be no deviation from Hardy-Weinberg equilibrium. Statistical analyses based on allele frequencies of the 15 STR loci show that twelve Eurasian populations tested can be classified into two distinct clusters; the Koreans appear to have the most genetic affinity with the Japanese of the East Asian cluster but tend to be different from the European cluster. The calculated parameters showed Penta E to be the most valuable marker from the STR loci studied. The combined probability of match calculated from 15 STR loci was 2.19 × 10-17, which is highly informative. Our data, therefore, can be used to extend the results obtained with other STRs, as well as provide valuable information for forensic and population genetic studies in the Korean population.

한국인의 약리 유전학적 연구

김인규,백용균,Goedde, H Werner,Benkmann, Heide G,조율희 한국유전학회 1988 Genes & Genomics Vol.10 No.4

Serum cholinesterase and N-acetyltransferase polymorphisms were investigated in unrelated individuals from different parts of South Korea. The frequency of the allele(Ac*S) controlling the slow acetylation was ca. 0.561; no atypical variants of normal serum cholinesterase which fail to hydrolyse suxamethonium could be found. The phenotype distribution of the two pharmacogenetic markers in different populations of the world is described.

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.

한국인 만성폐쇄성 호흡기질환 환자들에 있어서 혈중 Alpha1-Antitrypsin치와 Protease Inhibitor 표현형에 관한 연구

고윤석 ( Youn Suck Koh ),윤호주 ( Ho Ju Yun ),류우진 ( Woo Jin Lew ),박성수 ( Sung Soo Park ),이정희 ( Jung Hee Lee ),조율희 ( Youl Hey Cho ) 대한결핵 및 호흡기학회 1988 Tuberculosis and Respiratory Diseases Vol.35 No.2