한국인 천포창 환자에서의 HLA - DRB1 대립유전자의 빈도에 관한 연구

양홍윤 ( Hong Yoon Yang ),이창우 ( Chang Woo Lee ),김수찬 ( Soo Chan Kim ),정진호 ( Jin Ho Chung ),유희준 ( Hee Joon Yu ),황적준 ( Juck Joon Hwang ) 대한피부과학회 1998 대한피부과학회지 Vol.36 No.2

Background & Objectives : Pemphigus is an autoimmune bullous disease of the skin and mucous membranes. There are two major types of pemphigus, namely pemphigus vulgaris(PV) and pemphigus foliaceus(PF) which can be classified by the specificity of the autoantibodies against the epidermal desmosomal antigens in this disease. Like many other autoimmune diseases, pemphigus is also considered to be strongly associated with certain HLA alleles; some alleles can be detected with higher frequencies as compared with those found in ethnically matched populations. At this time, we tried to find out if there were certain HLA class II allele(s) associated significantly with Korean patients of pemphigus. Patients & Methods : Thirty patients with pemphigus (fifteen of PV and fifteen of PF), and one hundred healthy Korean controls were enrolled in this study. For the genotyping of HLA class II alleles in DRB1 loci, genomic DNAs prepared from buccal epithelia were amplified by polymerase chain reactions with nucleotide sequence-specific primers. Each allele of thirteen different generic types belonging to the DRB1 loci were used to identify the existence of each allele in both patient and control groups on gel electrophoreses. Results : In PV, there was a significantly increased frequency of HLA-DRB1*01 alleles than from the findings observed in the controls(pc=0.0013, RR:5). In patients with PF, there was a significant degree of association with HLA-DRB1*01(pc=0.00013, RR:5.5) when compared with that in normal controls. However, no allele of negative association with a significantly low frequency in the patient group was detected in both types of the disease. Conclusion : It can be suggested that DRB1*01 alleles may be susceptibility genes in Korean patients with PV, and DRB1*01 alleles could contribute to the autoimmune reactivity in patients with PF. This data shows different patterns in the frequency of each DRB1 allele in patient groups compared with those found in patients of other ethnic backgrounds. (Korean J Dermatol 1998;36(2): 252-260)

선천성 수정 대혈관 전위증 - 부검1 예 -

황적준,한길로,김윤신,서정욱 大韓法醫學會 1998 대한법의학회지 Vol.22 No.1

The corrected transposition of the great arteries is a rare congenital heart anomaly consisting of the discordant connections of both the atria to ventricles and the ventricles to the great arteries. But its circulation is physiologically corrected and therefore it is compatible with life unless there are associated lesions. Our case was associated with VSD, COA, and PDA. He was slightly cyanotic and irritable. Despite of oxygen supply, his symptoms were not improved and he eventually died in 52 hours after delivery. Medical record revealed severe respiratory and metabolic acidosis.

폐의 병태생리

한길로,황적준 大韓法醫學會 1997 대한법의학회지 Vol.21 No.2

The lungs are constructed to carry out their cardinal function, the exchange of gases between inspired air and the blood. Because of air pollution and smoking, primary respiratory infections, such as bronchitis, bronchopneumonia, and other forms of pneumonia, are commonplace in clinical and pathologic practice. Malignancy of the lungs has risen steadily in incidence. So review of diseases of lung is necessary to remind pathologic aspect of lungs.

韓國人에서 重合酵素反應으로 檢索되는 COL2A1 遺傳座位의 對立遺傳子 頻度

黃迪駿,明賢君,李羲碩,郭明宰 大韓法醫學會 1994 대한법의학회지 Vol.18 No.2

With the human genomic DNAs obtained from 128 unrelated Korean, the VNTR region 3' to the collagen type Ⅱ gene(COL2A1) was amplified in vitro by the polymerase chain reaction(PCR), and separated by 3% agarose(2% Nusieve and 1% Seakem) and 4% polyacrylamide gel' and analyzed to get the population genetic data for COL2A1 VNTR allele such as allele and genotype frequencies, and hetrozygosity were calculated based on the amplified fragments length polymorphism(AMP-FLP). 1. In 128 unrdlated Korean, 4 allelic variants(K2, K3, K4, and K5) at COL2A1 VNTR locus are observed, but K1 allele which was also observed in other study was not. 2. The observed allele frequencies for K4, K5, k3 and k2 are 0.519, 0.383, 0.094 and 0.008, respectively. 3. Of 10 possible genotypes, only 4 heterozygous genotypes(K5/K4, K5/K3, k4/K3, K4/K2) and 2 homozygous genotypes(K5/K5, K4/K4) are observed. However, the observed numgers of homozygous and heterozygous genotypes(46 and 82, respectively) are not significatly different from their expectations, 53.3 and 74.7. 4. The observed genotype frequencies are ordered as K5/K4(0.445), K4/K4(0,242), K5/K5(0.117), K5/K3(0.086) and K4/K2(0.086), which are in accordance with the Hardy-weinberg prediction based on the observed allele frequencies. 5. The overall heterozygosity at this locus is 0.563, while its expectation based on the allele frequencies is 0.584

친모의 유전자형을 알 수 없을 때 친자확인 유전자 검사

황적준,이재원,한길로,이혜승 大韓法醫學會 1999 대한법의학회지 Vol.23 No.1

In parentage testing DNA profiles are used to link the alleged father with paternity by matching their patterns. The probative value of a match is often calculated by multiplying together the estimated frequencies with which each particular VNTR or STR pattern occurs in a reference population. When this calculating method applies to the motherless case of paternity disputes, a calculation must usually be based on types determined for the child and the alleged father. In such case, the first consideration is to exclude a man from paternity of a child when the man did not have the child's paternal allele at some loci, or if the paternal allele cannot be determined, when the man had neither of the child's alleles. The second is to evaluate the DNA evidence when a man is not excluded by the paternal allele. This work is to provide theories of paternity analysis with three approach methods for the motherless case, and to evaluate their efficiency compared to the trio case when the man tested is not excluded. Consequently, the motherless case offers lower probability exclusion and questionable cumulative paternity index than those of the trio case as being typed with 14 STR loci(CSF1PO, THO1, TPOX, vWA, nity index than those of the trio case as being typed with 14 STR loci(CSF1PO, THO1, TPOX, vWA, D5S818, D13S317, D7S820, D16S539, FGA, D21S11, FES/FPS, F13A1, D18S80, D17S5). Since the motherless case in paternity disputes is less efficient for paternity exclusion of the child, the use of genetic maker systems with the higher value of mean exclusion chance(MEC) and exact levels of the relative probability of paternity must be of importance considered in the analysis of such deficiency cases.

事故死의 法醫剖檢 統計

黃迪駿 中央醫學社 1987 中央醫學 Vol.52 No.11

In order to evaluate the death structures of the accidental death in legal autopsy, a total of 1,751 cases out of 6,256 legal autopsies performed in National. Institute of Scienti-fic Investigation, during 1982-1986 were analyzed with. emphasis on types and causes of accidental death. The results obtained were as follows: 1. The annual death of accidental cases was 28.0% and the male to female sex ratio in the legal autopsy cases of accident was 1.78. 2. In age distribution, the most prevalent group was 20's (37.6% followed by 30's (18.6%, 10's (18.3%) and 40's (11.5%). 3. Pneumonia was the leading cause of death below 9, while carbon monoxide poisoning in other age groups. 4. In accidents the major types of death were poisoning (42.6%), asphyxia (17.6%), medical accidents (14.6%). traffic .accidents (8.0%) and fall from height (6.3%). 5. In. death related to medical care, the major causes of death were pneumonia (16.9%), atonic uterine bleeding (10.6%), coronary atherosclerosis (8.6%) and congestive heart failure (7.0%).

HUMACTBP2 대립 유전자의 새로운 명명법

구태완,이용욱,한길로,황적준 大韓法醫學會 1998 대한법의학회지 Vol.22 No.2

Allele designation for HumACTBP2 is not yet established while many authors introduced different kinds of designation methods. Here, we are introducing a new allele designation method. We used allelic ladder as an internal size standard on behalf of GS-500ROX and designation of each allele was followed recommendation of DNA commission of International Society of Forensic Hematogenetics(ISFH). This method is considered more reasonable for complex repeat loci like HumACTBP2 than other methods that published before.

螢光像 測定法으로 分析한 HUMACTBP2 遺傳座位에 대한 韓國人의 遺傳的 多樣性과 法醫學的 有用性

황적준,남용석,최하주,이혜린,한길로 大韓法醫學會 1997 대한법의학회지 Vol.21 No.1

The HUMACTBP2 locus was investigated to collect population genetic data in the Korean population and to evaluate the applicability for the forensic field. An Automatic fluorescent-based sequencer (377 automatic DNA sequencer, ABI) was used to detect amplified fragments of the HUMACTBP2 locus electrophoresed on 4% denaturing polyacrylamide sequencing gels. ACTBP2 allelic ladder consisting of different sizes of 18 alleles was constructed and employed as an internal size standard in combination with a GS-350 size standard for precision of allele-band sizing. By utilizing different fluorescent dyes, both the allelic ladders and samples were able to be analyzed in the same lane by 99% precision of allele-band sizing. Among the Korean population (n=224), 26 alleles in the range of 239-313 bp are determined. Allele No. 6 is found 45 times (0.100) which is mostly frequent, and the rest of allele is distributed with their relative frequency of 0.112-0.100. The comparison between observed and expected numbers of homozygous and heterozygous individuals confirms that ACTBP2 locus is in the state of Hardy-Weinberg equilibrium among the Korean population. The heterozygosity is 0.9389±0.0034(93.89%), and the power of discrimination)PD) and power of exclusion(PEX) are calculated to be 0.991(99.1%) and 0.890(89.0%), respectively, showing the high informativeness for individual identification. Thus, these results mean that the HUMACTBP2 locus can effectively be used for the forensic application.

삼풍백화점 붕괴사고 희생자들의 신원확인을 위한 유전자검사

남용석,이혜린,김경훈,김희선,이희석,황적준 大韓法醫學會 1996 대한법의학회지 Vol.20 No.1

A DNA typing was performed to identify decomposed body remains from Sampoong Department mass disaster in June 1995. These body parts include bone fragment, skin tissue, hairs, from which the extracted DNAs were highly degraded. Two VNTR loci, 4STR loci, and amelogenin gene were chosen for AMP-FLP, and mtDNA sequence analysis for the confirmation of maternal relationship. The results of AMP-FLP of the selected polymorphic loci showed different sucess rate for PCR. DIS80 and D17S5 loci were amplified successfully form 64.5%, and 67% of the samples, respectively. HUMTHOI, HUMCSF1PO, and HUMTPOX loci were amplified successfully from 90.3% of the samples each. HUMACTBP2 and amelogenin was amplified in 87% of the cases submitted. THE DNA types of 33 remains were compared with those of 81 bereaved families consisting of 173 member. Thirty three samples were reduced to 28 in numbers according to results of the same DNA types. Among them, the DNA types of 15 remains matched with those of bereaved families and the identified remains were reconfirmed by amelogenin sex typing and mitochondrial DNA sequence analysis. The others were not identified a family by failures of PCR amplification or non-matching of DNA types. Also it is confirmed that one hair sample should be artificial by non-digestion of protease and another be animal bone by result of dot blotting with human Alu probe. Our results indicate that multiplex PCR system consisting of several STR loci like HUMCSF1PO, HUMTPOX, and HUMTHO1 is more effective for the identification of highly decomposed human remains from mass disaster.

pV47-2 탐침으로 검색되는 유전자지문에 의한 가족 구성원간의 관계 분석

鄭宰安,黃迪駿 大韓法醫學會 1993 대한법의학회지 Vol.17 No.2

Human DNA fingerprints using multilocus ministellite probe pV47-2 are analyzed to investigate their mutation rate and band sharing rates between paternal parent and child, maternal prarent and child, and among sibs within each family in 106 individuals consisting of 33 korean families. The estimate of mutation rate is 0.1397 per individual or 0.0113 per band. The band sharing rates of fathers and nothers with their children do not differ significantly, their overall mean values are 53.1% and 57.1%, respectively. The average observed rate for parent-child band sharing is 55.45%, whereas its expected rate is 56.97%, which is distributed as binominal at 5% level of significance. The average band sharing rate between sibs is ranged from 26 to 87%(mean : 58.87%), which is also distributed as binominal at 5% level of significance. Though family relationships assessed from the band sharing rates between parent and child, and between members of both parents and child, these rates are prospective to be success fuly applied for distinguishing family relationship.