Cytochrome B 유전좌를 이용한 종 감별

이숭덕,이윤성,이정빈 대한법의학회 2001 대한법의학회지 Vol.25 No.1

The feasibility of species identification using sequence analysis of the cytochrome B (Cyt B) gene in mitochondrial DNA was investigated DNA was extracted from rune different animals that could be easily met in our surroundings and Cyt B gene was amplified. Direct sequencing results for the amplified PCR products were compared with each other. Human was also included Nucleotide sequence of the Cyt B gene for earth animals was also compared with the previously known ones registered in nucleotide databases, Genebank. The inter-species sequence variation was high as the percent similarity of each sequences ranged 64.6-83.5%. Compared to this the percent similarity of sequences obtained here were high when compared to the sequences of the same species registered in the database showing relatively low intra-species variation. This data shows that the nucleotide sequences of Cyt B gene in t certain biological materials can be identified at species level. The applicability of this method to the forensic field is also demonstrated by performing a casework, determination of the origin for the placentae which were commercial available as "invogorant". Points about the use of Cyt B gene in forensic field was also reviewed.

Amelogenin 유전좌를 이용한 성별검색의 유용성에 관한 연구

이숭덕,이정빈,이윤성 大韓法醫學會 2000 대한법의학회지 Vol.24 No.1

The aim of this study was to validate the sex typing based on amplification of X-Y homologous Amelogenin locus in Korean including mutation rate in this locus. It was found that there was no case with reported mutation that may hinder the exact sex typing among 240 Koreans, and the sex typing was successful even with subnanogram quantities of male and female DNA. There was no difference in the sensitivity of reaction among male and female. Differential amplification between X and Y amelogenin bands in some samples was noted, and dilution study revealed that this phenomenon was more frequent when the quantity of sample was low, usually less than 10 ng. That phenomenon was variable between amplification reactions, and was also dependent on different Taq enzyme used for the amplification. When there was differential amplification, the intensity ratio (Y band/X band) ranged about 0.68-0.87.

대량재해에 있어 미토콘드리아 DNA의 다형성을 이용한 개인식별

이숭덕,김기범,이윤성,최영태,신창호,이정빈 大韓法醫學會 1996 대한법의학회지 Vol.20 No.1

The mitochondrial DNA(mtDNA) is a small extranuclear DNA molecule that has been sequenced in man. the mtDNA has distinct characteristics over nuclear DNA. First, the evolutionary rate of nucleotide substitution appears to be larger compared with the nuclear DNA. Second, mtDNA is maternally inherited, so the determination of the various haplotype is unequivocal and no recombination has to be involved. Third, there is a 1.1 kb long control region, which shows severe polymorphism. These characteristics have been applied for several evolutionary study. Furthermore, they exist in cytoplasm with numerous copy number and their size, 16,569 bp is small relative to nuclear DNA, so they are more resistant to degradation or can be types in samples with only cytoplasm such as hair shaft without hair root. These presented the possibility of mtDNA as a tool in individual identification, especially when the nuclear DNA be unavailable. Actually, polymorphism in control region has been applied to individual identification for the skeletal remain found in Vietnam war. So we decided to apply the polymorphism of mtDNA in control region for the individual identification in case of mass disaster-"Downfall of Sampoong Department". Human remains from total 27 different individuals and 178 control persons were submitted for the individual identification. As the mtDNA comparison could be done through maternal lineage, 12 individual from 9 families from the control group were ruled out, because these families were consisted of father or were seeking for their father. Sequencing for the mtDNA control region was done using ABI automatic sequencer and DyeDeoxy Terminator Cycle Sequencing Kit. For convenience, sequencing reaction was done for two separate control region, region I from 16016-16401 in Anderson sequence, and regionⅡ from 048-388. First, sequences in regionⅡ of all samples and control persons were compared, and 20 samples were ruled out with no identical sequences in control group. Remaining 7 samples showed identical sequences with some of the control persons in three groups, and these identical pairs underwent mtDNA region I study. After region I study all samples except two dropped out in blood relationship. For the confirmation, STR and VNTR study such as MCT118, apoB, YNZ22, vWF, MBP, D21S11, TC-11 were done for remaining the two samples. The result denied the blood relationship between these two samples and any of the control group.

다량재해에 있어 미토콘드리아 DNA의 다형성을 이용한 개인식별 : 삼풍백화점 사건에 대하여

이숭덕,신창호,김기범,최영태,이윤성,이정빈 內務部 國立科學搜査硏究所 1996 國立 科學 搜査 硏究所 年報 Vol.28 No.-

소뇌 혈관아세포종 출혈에 의한 돌연사 부검 1예

이윤성,이숭덕,권오준 大韓法醫學會 1996 대한법의학회지 Vol.20 No.1

A rare case of fatal intratumoral hemorrhage in a cerebellar hemangioblastoma is described. A 320year-old soldier was presented with loss of consciousness of acute onset, followed by rapidly progressing coma. At autopsy it was shown that the brain was edematous and covered with basal subarachnoid hemorrhage, and well circumscribed cystic tumor was noted in cerebellum. The tumor involved the cerebellar vermis and the right hemisphere, protruding upward from the superior surface of the cerebellum. The cystic portion was filled with fresh blood clot. Histologic study confirmed the diagnosis of hemangioblastoma showing typical two components of large polygonal stromal cell and anastomosing capillary network.

서울지역 의과대학에서의 법의부검 : 서울의대에서 과거 5년동안 실시한 부검 경험 보고

이숭덕,이정빈,이윤성 대한법의학회 2000 대한법의학회지 Vol.24 No.1

This is the statistical analysis about the medicolegal autopsy cases performed by the Department of Forensic Medicine, Seoul National University Medical College during the last 5 years. 1.The total number of cases was 330, among which male took 256(77.5%) cases, female 74(22.5%) cases. The natural death took 134(40.6%) cases, unnatural death 177(53.6%) cases. For remaining 19(5.8%) cases the cause of death was known, although thorough analyses including microscopic examination, toxicology study were done. The thirties were most as 25.4% of the total cases and the forties followed the second. 2.The number of autopsy showed severe variation annually or monthly in a year. 3.Among unnatural death, death by violent injury took 87(49.2%) cases, asphyxia 48(27.1%) cases, intoxication 17(9.6%) cases and death by thermal injuries or electric injuries 25(14.1%) cases. 4.Among natural death the abnormality in cardiovascular system were the most as 73(54.5%) cases, gastrointestinal system 38(28.4%) cases and central nervous system 12(8.9%) cases. 5.There were some differences between these and the data from other institute in the ratio of male to female, ratio of natural death to unnatural death and the ratio of specific cause of death among natural and unnatural death. 6.During this work, there were some difficulties in the aspect the irregularity of the work, in requesting toxicology and in the expense needed for the process. Considering the educational aspect for the students and the residents in pathology, performing medicolegal autopsy in medical college should be encouraged. The small number of autopsy and the closeness of the scene made the scene investigation possible in several cases, which is the ideal form that we must consider when we set up our system for the postmortem investigation.

사건 현장에서의 시체 다루기

이숭덕 대한법의학회 2000 대한법의학회지 Vol.24 No.2

Today's criminals are sophisticated and the pattern of crimes have become more complicated. To solve this, 'scientific investigation' has been stressed. Contrary to the old traditional investigator-based procedure in crime investigation, it requires more experience and knowledge, even patience. As a non-MD investigator it is not easy to be prepared to crime investigation when the human body is involved. Much knowledge in medicine and experience are required to deal with the dead body. Here I arrange several points that should be checked in practical crime-scene investigation for the dead body, and explain how it can be easily done. And the manual based procedure, team work approach and appropriate recording are stressed for successful crime investigation.

한국인에서 DXS7132 유전좌와 GATA31D10 유전좌의 다형성에 관한 연구

안종성,장영길,이숭덕,신창호,이윤성,이정빈 大韓法醫學會 2000 대한법의학회지 Vol.24 No.1

The validation study for two STR loci on X-chromosome, DXS7132 and GATA31D10, was done including allelic distribution and frequency of each allele to use these results for individual identification and paternity testing. For 496 unrelated Koreans, above two STR loci were amplified simultaneously using duplex PCR amplification method. The amplified products were analyzed by polyarylamide gel electrophoresis followed by silver staining. In male DXS7132 locus revealed 7 different alleles ranging from 276bp to 300bp. The largest allele was consisted of 14 repetition of [TCTA] unit and took 0.3417. The allele 15 followed next as 0.3165 and allele 13 as 0.1726. In female general distribution was same except one allele, allele 18 was found additionally. The heterozygosity was 0.7706 and 23 different genotypes were found. Polymorphism information content(PIC) was 0.727. Two cases of mutation were noted in DXS7132 locus In both male and femal 7 different alleles were noted in GATA31D10 locus and the alleles ranged from 195bp to 231bp. The allele 15(199bp) took the majority of all as 0.825. The other alleles showed rather relatively low frequency. The heterozygosity was 0.2385 and 11 different genotypes were found. PIC was 0.2521, and no mutation was noted in GATA31D10 locus. Considering these two loci together, 22 different halpotype were noted.

한국인에서 Quadruplex PCR을 이용한 8종류 상염색체 STR 유전좌의 다형성 분석

장영길,김기범,신창호,이숭덕,이윤성,이정빈 大韓法醫學會 2001 대한법의학회지 Vol.25 No.1

Two quadruplex PCR reactions were designed for 7 tetrameric (D3S2406, D4S2368, D5S818, D7S821, D9S925, D13S317, D19S253) and one trimeric (D6S1043) short tandem repeats loci to study the allele frequency and the applicability of genetic variation in these loci in forensic case works. For 310 unrelated Koreans DNA was isolated from peripheral blood using phenol/chloroform method. Quadruplex I was consisted of D4S2368, D6S1043, D7S821, D9S925 and quadruplex II D3S2406, D5S818, D13S317, D19S253. The amplified products were analyzed by 5% polyacrylamide gel electrophoresis followed by silver staining. The heterozygosity in each loci ranged 92.91-66.13%, and PD(Power of Discrimination) was above 085 in each loci. Every loci except D6S1043 followed hardy-Weinberg expectation. The cumulative PI was low as 1.65×10-10. Two mutations were noted, one in D19S253 and the other in D9S925 among 234 gametes. With these results above eight STR loci studied here preyed to be highly polymorphic enough to be used in forensic field. This study provides valuable population data in these loci for Korean.

동일한 시료에 대한 국내 기관간의 STR 분석결과 비교 : STR 유전자좌 분석법의 표준화 설정을 위하여

박종태,신경진,양윤석,우광만,이숭덕,이승환,이정빈,정연보,조승희,한길로,한면수,홍승범 大韓法醫學會 2001 대한법의학회지 Vol.25 No.1

This paper described a collaborative exercise intended to see what kinds of short tandem repeat (STR) loci are used in different DNA typing laboratories in Korea and to compare their results for the demonstration whether uniformity of DNA profiling results from different laboratory could be achieved in Korea Laboratories were asked to test five tissue DNAs using methods routinely used in each laboratory and to report the results to the coordinating laboratory. The exercise demonstrated that each laboratory was using different STR loci for the typing with different STR numbers,2 VNTRS,36 STRs and amelogenin in total, and the direct comparison of the results from all the laboratory for the 18 loci could not be done as only one laboratory submitted typing results. Among 21 loci for which several laboratories submitted typing results, results for 14 loci were the same and results for the other 7 loci were different depending on the participating laboratory. D1S80, F13A01, D16S539, D21S11, D18S51, D3S1744 were the loci with different typing results. Even in the cases where commercial kits were used, the results were not the same depending on the machines used, that is the capillary electrophoresis or the gel based electrophoresis. The reason for the different results, points about the standardization of the methods arid the profiling data were described.