A Forensic Autopsy Case of Lissencephaly for Evaluating the Possibility of Child Abuse / 대한법의학회지

A 9-year-old Korean boy with lissencephaly was found dead at home. He had previously been diagnosed with lissencephaly that presented with infantile spasm on the basis of magnetic resonance imaging and electroencephalogram results. Antemortem chromosomal banding revealed a normal karyotype. A legal autopsy was requested to eliminate the possibility of neglect or abuse by his parents. The autopsy findings revealed type I lissencephaly with the associated microcephaly. No external wounds or decubitus ulcers were noted. Postmortem fluorescence in situ hybridization for the LIS1 locus and nucleotide sequence analysis of the whole coding regions of the LIS1 gene did not reveal any deletions. The antemortem and postmortem findings revealed that lissencephaly syndrome was associated with isolated lissencephaly sequence. External causes of death were excluded by the full autopsy and toxicology test results. Because patients with mental retardation are frequently victimized and suffer neglect or abuse, thorough external and internal examinations should be conducted at the time of autopsy.

DNA-Based Identification of Necrophagous Fly Species Using Abdominal-B (Abd-B) Homeobox Sequence / 대한법의학회지

In medicolegal investigations, correct identification of the necrophagous fly species collected around and on the corpse is an essential step for estimating the postmortem interval (PMI). Therefore, forensic pathologists and entomologists investigating deaths due to violent crimes need a rapid, easy-to-use protocol to identify fly species found on corpses. A rapid and robust DNA-based tool that can distinguish between various immature and mature species from the Calliphoridae, Muscidae, and Sarcophagidae families would be ideal for such investigations. To date, the DNA barcode initiative is the best approach for identifying species-specific nucleotide sequences. We have developed 3 sequence-characterized amplified region (SCAR)-based identification systems derived from the Abdominal-B homeobox sequences of 17 fly species belonging to the Muscidae and Sarcophagidae. The flies used in this study were collected in Korea. These assay systems can classify 17 forensically important fly species into the dipteran family group and reliably distinguish them from inter- and intraspecific fly species through a 2-step multiplex PCR. This novel approach may also be used as an alternative to conventional DNA-based identification methods.

Homicidal Fall from Height with 'Tram-line' Bruise at Buttocks / 대한법의학회지

A teenaged female was found dead in front of a three story building. Blunt force injuries were found mainly in the right upper-posterior part of the body. Autopsy findings revealed basal skull fracture, multiple rib fractures of the right thoracic cage, both scapular fractures and right iliac bone fracture. Additionally, typical so-called 'tramline'bruises were bilaterally noted at buttocks. The hymen was intact, but showed mucosal hemorrhage. After the personal identity was revealed, the police could find a witness who heard the detailed description of the criminal acts from one of the suspects. According to the witness, the deceased was pushed by two other teenaged girls from the concrete fence of the roof floor after the suspects molested the genitalia of the deceased and beat on the buttocks with a wooden stick. Mathematical estimation of the height of fall based on the severity of injuries correlates with that of the three story building. Authors suggest that a careful examination of injury patterns is required to differentiate homicidal falls from suicidal or accidental ones. Furthermore, application of mathematical model might be helpful to estimate the height of falls or correlate the assumed height of fall with severity of injuries.

Use of Cytochrome c Oxidase Subunit I (COI) Nucleotide Sequences for Identification of the Korean Luciliinae Fly Species (Diptera: Calliphoridae) in Forensic Investigations

Blowflies, especially species belonging to the subfamily Luciliinae, are the first insects to lay eggs on corpses in Korea. Fast and accurate species identification has been a key task for forensic entomologists. Because conventional morphologic identification methods have many limitations with respect to forensic practice, molecular methods have been proposed to identify fly species of forensic importance. To this end, the authors amplified and sequenced the full length of the cytochrome c oxidase subunit I (COI) gene of the Luciliinae fly species collected in Korea. The results showed the COI sequences are instrumental in identifying Luciliinae fly species. However, when compared with previously reported data, considerable inconsistencies were noted. Hemipyrellia ligurriens data in this study differed significantly from two of the five pre-existing data. Two closely related species, Lucilia illustris and Lucilia caesar, showed an overlap of COI haplotypes due to four European sequences. The results suggest that more individuals from various geographic regions and additive nuclear DNA markers should be analyzed, and morphologic identification keys must be reconfirmed to overcome these inconsistencies.

Molecular Identification of Four Muscidae Species Collected in Korea using the DNA Barcode Region of Mitochondrial Cytochrome Oxidase Subunit I / 대한법의학회지

DNA barcoding was recently introduced to molecular identification of forensically important fly species. So, we have analysed the barcode region (687 nucleotides) of mitochondrial cytochrome oxidase subunit I (COI) gene for four species of Muscidae flies collected from Korea. The sequences were aligned and analysed to construct a phylogenetic tree using DNA Star 5.01(DNAStar Inc) and MEGA 3.1 program(Kumar, Tamura, Nei 2004). Intraspecific variation was not noted between M.stabulans individual to each other. Intraspecific variation ranges of other species were 0.1%, 0.1~0.3% and 0.1~0.6% for O.leucostoma, M.angustifrons and M.domestica, respectively. Interspecific percent distance was minimal(9.7~10.0%) between M.stabulans and M.angustifrons. Other species showed above 10% distance from each other. The result showed that four species of Muscidae fly species (Muscina angustifrons, Muscina stabulans, Ophyra leucostoma and Musca domestica) were identifiable from each other with analysis of barcode region of COI gene. Therefore, we conclude that species identification of forensically important Muscidae flies used in this study is possible with percent distance of sequences of COI barcode region, but more species and individuals should be examined to be confident about the conclusion.

Identification Blow Fly Species in Korea by Mitochondrial DNA 'Barcodes' / 대한법의학회지

Recently many forensic scientists are trying to use the DNA 'barcode' region (upstream portion of mitochondrial cytochrome oxidase subunit I) to identify the species of forensically important fly species. We have analyzed to compare their sequences of the 'barcode' region for twelve blow fly species[A. grahami, C.lata, C. vicina, H.ligurriens, L. ampullaceal, L. Caesar, L. illustris, P. sericata, P. regina, T. calliphoroides, C. megacephala, C. pinguis] collected from the rural and urban regions in Korea. Intra- and interspecies sequence divergences were calculated as 0~0.9% and 0.9~11.4%, respectively. Phylogenetic trees were drawn with Mega 3.1 and Network 4.20 programs. The result illustrates that each genus is grouped as monophyletic group except for T. calliphoroides and all the same species were monophyletic group. This suggests that the 'Barcode' region of COI gene could be a marker for identification of necrophagous blow fly species. But the two closely related species, L.illustris and L.caesar show little differences from each other. Therefore more individuals of these species should be examined for population study.

Death due to hydrogen sulfide poisoning after drain cleansing in an apartment house / 대한법의학회지

A nine-year old boy was found unconscious by his father in his apartment house. He was transferred to the emergency unit immediately but resuscitation was failed. Drain cleansing was performed just before the deceased came home. The father stated that there was foul odor in the house when he opened the door. The autopsy finding showed only nonspecific findings including severe pulmonary edema. Significant amount of sulfide ion was detected from blood and brain tissue. The cause of death was concluded as hydrogen sulfide poisoning.

DNA-based Identification of Forensically Important Blow Fly Species in Korea; Aldrichina grahami, Calliphora lata, Calliphora vicina and Phormia regina / 대한법의학회지

Entomological evidence, especially necrophagous flies, are important in estimating postmortem interval in a putrefied corpse. Accurate and rapid species identification of eggs, maggots and pupae is required because growth rates and ecological characteristics are different among different species. But species identification of these immature stages of insects is difficult or impossible to even an expert entomologist. We tried to identify the necrophagous fly species using molecular data. Adult specimens of four forensically important blow fly species [Aldrichina grahami, Calliphora lata, Calliphora vicina and Phormia regina] were used for DNA extraction and sequences analysis of mitochondrial cytochrome oxidase subunit I (CO1) in this study. A total of 560 base pairs(bp) of the CO1 region was recovered using the newly designed specific primer pairs and was sequenced to compare it with those of same fly species registered in NCBI GenBank. The results presented in Table 2 to 6 demonstrate not only the potential utility of the COI sequence in interspecific discrimination, but also indicate that this sequence is probably not suitable for use with intraspecific studies, especially for dividing different local populations within the same species.

Molecular Identification of Six Necrophagous Fly Species (Family: Muscidae) by Mitochondrial Cytochrome Oxidase Subunit I / 대한법의학회지

Estimation of postmortem interval (PMI) in a putrefied corpse has been a long theme in the forensic medicine. Insects, especially necrophagous fly species are now utilized as indicators of PMI because the first visitors to a dead body are usually known to be blow fly species (Family Calliphoridae). House flies (Family Muscidae) are later visitors but they are very significant in forensic entomology because of their worldwide distribution. Entomologic evidences recovered from the scene are often immature individuals such as eggs, maggots and pupae. Because growth rates and ecological characteristics are different among fly species, accurate species identification is essential. As species identification in immature stages is very difficult or even impossible to an expert entomologist, many researchers are trying to identify fly species by molecular techniques. Authors analyzed 400bp of mitochondrial COI gene sequences of six Muscidae fly species (Fannia prisca, Muscina angustifrons, Muscina stabulans, Musca domestica, Hydrotaea dentipes and Ophyra leucostoma). In spite of limited number of flies analyzed in this study, all six fly species have different haplotype of COI gene and shows minimal intraspecific variation. This result shows that six fly species analyzed in this study can be discriminated each other by COI gene sequence analysis. But, more individuals from various geographic region should be analyzed to apply this result to a forensic entomology practice.

Comparison of Mitochondrial Cytochrome Oxidase Subunit I (CO I) Sequences of Five Blow Fly Species in Korea / 대한법의학회지

In criminal investigations, the accurate identification of specimens must be a vary important procedure in the estimation of post-mortem interval(PMI) using insect specimens. However, the morphological-based identification method has many limitations, as species identification for immature stages of many species being difficult or impossible, and more convenient methods are needed to identify necrophagopus fly species. So, many authors have proposed DNA-based methods for identifying fly specimen because of identifying all life stages of carrion flies. In this study, we sequenced a part of mitochondrial cytochrome oxodase subunit I (COI) for each five blow fly species [Hemipyrellia ligurriens, Lucilia illustris, Phaenicia sericata, Chrysomya. megacephala, Chrysomya pinguis] collected from the rural and urban regions in Korea, and compared 400 nucleotides of one species with those of another species. Percent similarity of sequence compared was highest value between Ch. pinguis and Ch. megacephala (97.8%), and lowest one between H. ligurriens and Ch. pinguis(89.2%). Maximun intraspecific variation was observed in L. illustris (0.5%). In conclusion, the experimental results indicate that sequence analyses of more necrophagous flies collected from various regions of Korea should be performed to construct a database of mitochondrial CO I of necrophagous fly species.

Paleopathologic Analysis of a Mummified Pregnant Woman of Papyung Yoon's Family

BACKGROUND: A mummy is a dead body of a human being or an animal that has been preserved artificially or naturally from decaying. Because the natural environment of Korea isn't appropriate for mummification and Korean people haven't artificially made mummies, mummies were rarely studied in Korea. METHODS: On September 6, 2002, a well-preserved female mummy was found in the grave of a family in Kyunggi-do. She was submitted to a thorough autopsy examination along with the review of genealogical documents. RESULTS: The mummy died in winter. She was pregnant and the fetal head was observed at the vaginal orifice. The uterine wall was ruptured, and the peritoneum was discolored, probably by hemorrhage. Histologically, the gastric mucosa was well preserved. On the smear cytology of gastrointestinal material and the fluid from the coffin, pollens and parasitic eggs were observed. The woman seemed to be death from hypovolemic shock due to uterine rupture during the 2nd phase of labor. CONCLUSION: From this case, we concluded the causes of the woman's mummification included the cold and dry circumstance at the time of her death, and the thick mortared wall of the grave that completely isolated the body from the outside.

SAS System for the Genetic Analysis of DNA Evidence / 대한법의학회지

DNA analysis has become one of the most powerful tools in forensic inference for human identification and is now used worldwide. It is used to be statistical technique for the individual identification of a civil and criminal action. The purpose of this article is computerization of the statistical technique for the population study and DNA evidence analysis. The system using SAS/AF and SAS/SCL is the graphic user interface and the correspondence of the changed experimental circumstances.

Non-amplification of an Allele of D8S1179 Locus Due to Point Mutation in Flanking Region / 대한법의학회지

AmpFlSTR Profiler PlusTM PCR amplification system is highly efficient commercial DNA profiling system that are used by many institute for forensic individual identification. During the population study of 128 true Korean families (626 persons) with 9 loci of AmpFlSTR Profiler PlusTM PCR amplification system, we found unusual homozygous genotype at the D8S1179 locus in 4 families that is hard to explain with the Mendel's hereditary principles. The genotyping results suggest possibility of presence of non-amplified alleles due to deletion of one allele or polymorphism of primer-binding site. So we designed a new pair of primers of D8S1179 locus from GenBank data (GenBank Accession No. G08710). The newly designed primers amplified alleles that are not amplified with AmpFlSTR Profiler PlusTM PCR amplification system and all homozygous genotypes are typed to heterozygous genotype. We sequenced alleles of family members who have non-amplified alleles and we found G to A transition at the position of 147th base of GenBank sequence.

Attitudes of General University Students and Medical College Students Toward Conducting an Autopsy / 대한법의학회지

The attitude toward the use of autopsies affects the incidence of performance of the procedure. In foreign countries, many studies on this subjects have been conducted. However, in Korea, no study has been reported. We hypothesized that the general university students may be negative, whereas the medical college students may have positive attitude toward the use of autopsies. In contrary to our hypothesis, there existed only a little difference for the attitude toward conducting an autopsy between the general university students and the medical students. Both groups had positive attitudes toward autopsy. When the medical students become medical doctors, the main reason for not requesting patients to be conducted an autopsy is that their family members may feel offended. These results show that the low incidence of autopsy cases in Korea is caused not by the attitude of the general population, but by the attitude of medical doctors. Thus, we should make every effort to increase the incidence of autopsy by educational programs and discussions about autopsy and death.

Motherless Case in Paternity Testing / 대한법의학회지

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, TH01, TPDX, 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.

Congenitally Corrected Transposition of the Great Arteries / 대한법의학회지

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.

How to Inspect the Dead Body?

No abstract available.

Frequencies of HLA-DRB1 Alleles in Korean Patients with Pemphigus / 대한피부과학회지

BACKGROUND AND 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 AND 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.

New Allele Designatin of HUMACTBP2 / 대한법의학회지

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.

Allele Sequence Variations of GABARB1 Locus and Allele Frequency by New Allele Designation in Korean / 대한법의학회지

To determine allele frequency of GABARB1 Jcus in Korean, first, we sequenced each allele, which was amplified with primers that published before. We found mismatching between allele number and size of each allele when 'GATA' repeats are counted. The sequence revealed new 'GATA' repeat. So we had made new allele designation with total number of in 176 Korean people. The heterozygosity this locus was 0.716 and mean exclusion chance (MEC) and power of discrimination (PD) were 0.433 and 0.845, respectively. In this study, we emphasized necessity of sequencing of 2-3 alleles, which have same size before setting up allelic ladder.