Intra-individual Difference of Length Heteroplasmy in Blood and Hair Shaft Mitochondrial DNA / 대한법의학회지

To observe mtDNA length heteroplasmy in a homoploymeric cytosine tract of the mitochondrial HV2 region, we carried out size-based separation of PCR products, which was produced by using primers designed to minimize the stutter production. Blood and hair shaft samples were collected from 25 individuals. The result showed significant qualitative/quantitative peak pattern variations among blood and hair shaft mtDNA profiles. Based on the results of this study, an exclusion depended solely on differences in length of the major C-tract variant could thus be an erroneous interpretation. Therefore, differences in the number of cytosine or qualitative/quantitative peak pattern variations in the C-tract of the mtDNA HV2 region cannot be used alone to support an interpretation of exclusion.

Transmesenteric Hernia: 3 Autopsy Cases / 대한법의학회지

Transmesenteric hernia is a rare cause of small bowel obstruction and is caused by congenital mesenteric defect or postoperative complication. At first because it is a rare type of internal hernia and also clinical simptoms can be nonspecific or intermittent, it is seldom diagnosed before laparotomy or autopsy. We report 3 cases, 1-, 2-, and 4-year-old children and found a small bowel gangrene caused by a congenital defect of mesentery. We describe autopsy findings, clinical simptoms and clinical diagnosis.

Polymorphism and forensic efficiency of 5X-STR loci in Korean / 대한법의학회지

This study intends to examine the polymorphism of 5 STR loci inX-chromosome (GATA172D05, HPRTB, DXS8377, DXS101, HumARA) and to evaluate usefulness of them in forensic identification. 100 unrelated Korean men and women were selected. DNA was extracted from these sample and PCR was performed to amplify it. And using automated DNA sequencer and computer program, the genotype and allele frequency of them were investigated and analyzed. The following results were obtained: 1. The genetic analysis of 5 STR loci inX-chromosome was performed with quadruplex PCR for GATA172D05, HPRTB, DXS8377, HumARA and monoplex PCR for DXS101. 2. Polymorphism information content of 5 loci is higher than 0.5, the high information content is observed. The heterozygosity is higher in DXS8377, DXS101, HumARA than others. 3. The power of discrimination is revealed high in all 5 loci in women, but in men DXS8377 and HumARA is higher than others. 4. The mean exclusion chance is revealed high in DXS8377 and HumARA which have more alleles than others in trio case and motherless case. 5. The difference of allele frequency is observed with other population group in DXS8377, DXS101, HumARA of Korean population group. Based on the results of this study, the allele frequency and population data of 5 STR loci inX-chromosome may be useful in forensic investigation.

A Korean population study for the COfiler STR loci (D3S1358, D16S539, TH01, TPOX, CSF1PO, D7S820) / 대한법의학회지

In the United States, the Federal Bureau of Investigation (FBI) officially launched its national DNA database. This database, named the combined DNA Index System (CODIS), included one gender-determining amelogenin and 13 polymorphic short tandem repeats (STR) loci. To introduce a new STR system, a population database for the relevant population must be established for the statistical analysis of forensic cases. AmpFlSTR Profiler Plus PCR Amplification Kit (Profiler Plus Kit) and AmpFlSTR COfiler PCR Amplification Kit (COfiler Kit) are required to obtain information from all the 13 CODIS core STR loci. Study on 9 STR loci using Profiler Plus kit was already performed in a Korean population, but not yet on 6 STR loci using COfiler Kit. This study intends to evaluate usefulness of 6 COfiler STR loci (D3S1358, D16S539, TH01, TPOX, CSF1PO, D7S820) in forensic identification. Buccal swab samples obtained from 300 randomly selected unrelated Koreans. DNA was extracted from the buccal swab samples and multiplex polymerase chain reaction (PCR) was performed using the COfiler Kit to amplify it. And using automated DNA sequencer and computer program, the allele and genotype frequency distribution is investigated and statistical analysis was performed for the PCR products. The following results were obtained: 1. The observed heterozygosity at each STR locus ranged from 0.650 to 0.800 and the expected heterozygosity at each STR locus ranged from 0.642 to 0.787. 2. The polymorphism information content (PIC) at each STR locus ranged from 0.583 to 0.752 and is higher than 0.5 for all loci to have relatively high information content. 3. The power of discrimination (PD) at each STR locus ranged from 0.811 to 0.921 and the combined power of discrimination is calculated to be 0.999996. 4. The mean exclusion chance (MEC) at each STR locus ranged from 0.386 to 0.576 and the combined mean exclusion chance is calculated to be 0.98088. Based on the results of this study, 6 COfiler STR loci may be useful in forensic identification including finding an individual in relation to criminal case and paternity testing.

Death due to glyphosate intoxication / 대한법의학회지

Glyphosate containing herbicides, such as 'Touchdown' or 'Roundup', have been known relatively safe. They have been introduced as substitute for highly toxic paraquat. Till now few researchers have paid their attention for this material, and few data are available concerning this. Recently we experienced seven cases of glyphosate intoxication during past three years. Most of the cases could be regarded as intentional ingestion and accidental intoxication seemed to be quite less compared to paraquat. As there exist technical difficulties for the clarification of the material quantitatively, some cases were disputable concerning the circumstances in which ingestion of the material or death have occurred. Cases were reviewed and several points about this material were discussed.

Analysis of Mitochondrial and Y-chromosomal DNA from 350-Year-Old Mummified Human Tissue / 대한법의학회지

This paper describes the successful DNA extraction and amplification, and analysis of mitochondrial and Y-chromosomal DNA from an approximately 350-year-old mummy exhumed from Gyunggi-do, South Korea in 2001. Sample tissue was obtained from internal organs such as lung, liver, and muscle of the mummy. Mummy tissue was rehydrated in trisodium phosphate solution, and protein was digested by proteinase K. Sample DNA was extracted using phenol-chloroform-isoamyl alcohol and silica column. Every step of DNA extraction and PCR was cautiously carried out according to general guideline to prevent contamination of the sample DNA. PCR products of mitochondial DNA (mtDNA) were observed with good yield, and sequence analysis of the mtDNA was successfully accomplished in the control regions (HV1, HV2, and HV3). In addition, minimal haplotype Y-STRs were tried to analysis. However, DYS19, DYS389l, DYS390, DYS391, DYS392 and DYS393 were only amplified and clearly genotyped. Sequence analysis of mtDNA and YSTR genotyping were performed more than twice with time intervals, and the results were accepted only when they showed the even profile for authenticating mummy DNA. There are some difficulties in the analysis of DNA from ancient mummified human remains has wellknown problems, such as low template quantity, poor quality of DNA, and the presence of PCR inhibitors. This implies that the most critical factor for ancient DNA analysis is extraction of DNA. In order to overcome these troubles, we used DNA extraction using phenol-chloroform-isoamyl alcohol and silica column and optimized PCR condition. Therefore, the analysis of mtDNA and Y-STRs from mummy was successfully performed.

Inadequacies of Death Certification: The Role of Forensic Pathologist / 대한법의학회지

Death certification is a public health surveillance tool and a valuable source of information at the national and local levels. Among activities that benefit from the availability of cause-of-death statistics obtained from death certificates are the monitoring of the health of populations, the setting of priorities and the targeting of intervention. Such statistics are also the keystone of much epidemiological study. So adequate writing cause-of-death statements for death is very important. The present study was undertaken to evaluate death certification in Seoul and Kyung-in area of Korea. The available 203 death certificates were obtained from the 1026 autopsy files of National Institute of Scientific Investigation(june, 2002-september, 2002). The summary of the results were: 1. Cases that writing the phenomenon such as cardiac or respiratory arrest, heart failure in the box of cause-of-death were 64 cases(31.5%). Cases that writing the immediate cause of death in the second or third line of box were 50 cases(24.6%). Cases that writing two or more immediate cause-of-death in one line of box were 36 cases(17.7%). 2. Cases that the statement of cause-of-death not correlated with the statement of manner-of-death were 18 cases(8.4%). 3. Cases that the immediate cause-of-death and manner-of-death is changed after autopsy were 179 cases(88.2%). The results of this study showed inadequacies of death certification in Seoul, Kyung-in area of Korea. We thought the reasons for this inadequacies of death certification were mainly insufficient education and campaign for physicians about accurate understanding of cause of death, manner of death. The forensic pathologists certified a number of deaths and have responsibility for education about cause of death, manner of death. So we emphasized need for forensic pathologists to be involved in works related with death certification forms and policies.

Comparison of parentage testing results from several institutes in Korea / 대한법의학회지

Collaborative work using same samples for the parentage testing, which was intended to see the status and the quality of several DNA typing laboratories in Korea, was described. Samples were consisted of two sets, one was a trio case and the other was a deficient case with two children. Samples were sent to six laboratories, among which five submitted the result. Each laboratory had used different number and set of STR loci using 14 - 23 loci, and total 33 different loci were used. Only one VNTR locus, D1S80 was included and all the remaining were STR loci. The loci included in the commercial kits were used more frequently. One laboratory had used Korean-made commercial kits. All the laboratories gave the same results about the parentage, although results for one locus were not the same through different laboratories. There existed minor difference in the PI calculation, especially in the statistical parameters such as allelic frequences, which might gave confusion to users of the results who were not familiar with the test. Necessity about the standardization and profiling data were discussed.

Comparison of STR Typing Results from Several Centers for the Same Samples: Steps to Standardization for STR Typing / 대한법의학회지

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 and the profiling data were described.

Comparison of STR Typing Results from Several Centers for the Same Samples: Steps to Standardization for STR Typing / 대한법의학회지

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 and the profiling data were described.

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.

Population Genetics of the Hypervariable Locus D12S391 in Korean / 대한법의학회지

The hypervariable short tandem repeat (STR) locus D12S391 was investigated in a Korean population. A total of 14 alleles were detected by size under denaturing conditions in 517 unrelated individuals. To confirm all of the alleles detected in a Korean population, a total of 34 fragments were sequenced. Prior to allele designation, we constructed the allelic ladders containing 11 alleles sequenced in this study. Allele 18 is the most common with a frequency of 0.281 in Koreans, and one variant allele 19.3 which have been confirmed by sequencing, was detected. The observed heterozygosity, the power of discrimination (PD), and the mean exclusion chance (MEC) for the locus D12S391 is 0.781, 0.946 and 0.652, respectively. No deviation from Hardy-Weinberg equilibrium was observed in a Korean population (p=0.557). In the 424 meioses in 105 Korean families confirmed using other 17 STR loci, no mutation was detected in locus D12S391. The STR locus D12S391system is useful both for the analysis identification and parternity.

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.

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.

Statistical Parameters for Evaluating the Identification Power of STR Loci / 대한법의학회지

When we intend to do the personal identification using DNA profiles, it will obviously be better to use as much information as possible. The power of identification is increased by using the genetic marker system such as VNTRs or STRs. Although STRs do not have many alleles per locus as VNTRs, these can be compensated by a large number of loci that are potentially usable. However, it will be more efficient to use a morphic loci. Therefore, prior to choose the genetic marker system of STRs for identification, it is essential to consider the statistical parameters of each STR locus, such as obs-H(observed heterozygosity), exp-H(expected heterozygosity), pM(probability of match), DI(discrimination index), PD(power of discrimination), MEC(mean exclusion chance), MEP(mean exclusion paternity), PIC(polymorphic information content) et al. In this article, we described the exact meaning of statistical parameters for the purpose of identification.

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.

Allele Frequency Distributions with an Analysis of Allelic Sequence Variations for HumFIBRA/FGA and D21S11 Loci in Korean / 대한법의학회지

Allele-and genotype frequencies of the two short tandem repeat (STR) loci, HumFGA and D21S11, were determined in Korean population(n=196). DNA typing was accomplished by applying fluorescence-labeled PCR products and a differently labeled sequenced allelic ladders, followed by automated analysis using ABI 377 automatic sequencer and GeneScan 2.02 software. Prior to typing, allelic ladder of each locus was constructed with a combination of all alleles occuring from the population sample. A total of 15 alleles and 48 genotypes with the heterozygosity of 0.854 for HumFGA, and 12 alleles and 33 genotypes with the heterozygosity of 0.787 for D21S11 are observed in a population of 196 genetically unrelated individuals. No deviations from Hardy-Weinberg equilibrium were observed(p=0.753 for HumFGA, p=0.262 for D21S11). The data presented here (power of discrimination and average power of exclusion) show that both STR Loci, HumFGA and D21S11, are very informative for individualization from criminal evidences, and are also useful for parentage testing.