RESUMEN
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.
Asunto(s)
Citosina , ADN Mitocondrial , Cabello , Reacción en Cadena de la PolimerasaRESUMEN
A population study of the X-chromosomal short tandem repeat (STR) loci DXS9898, DXS6809, DXS7424 and DXS10011 was carried out by single multiplex PCR in a sample of 300 unrelated Korean individuals (150 males and 150 females). For accurate and reproducible STR typing, sequenced allelic ladders were constructed and GenoTyper macro was programmed. In this study, four types of the repre-sentative repeat sequence structure of DXS10011 were observed and the allele loss at DXS9898 was observed in 13 of 450 chromosomes (2.9%). The inter-population comparison of the allele frequencies at the 4 X-STRs showed significantly different distributions (p<0.01) for Koreans and Germans except DXS10011. All statistical parameters for forensic efficiency showed that the 4 X-chromosomal STRs are highly informative. Especially, DXS10011 is expected to be the most useful marker for forensic practice.
Asunto(s)
Humanos , Masculino , Alelos , Frecuencia de los Genes , Repeticiones de Microsatélite , Reacción en Cadena de la Polimerasa MultiplexRESUMEN
DNA quantification is important to ensure the consistency and the reliability in the interpretation of degraded low copy number DNA typing. We applied the simple PCR quantification method using fluo-rescently labeled primers for the amplification of mtDNA and amelogenin gene in 50 year old skeletal remains (e.g. bone and tooth). K562 DNA was serially diluted and used as a standard for concentration marker to gauge the amount of DNA from PCR versus the peak area. The quantities of DNA extracted from bones and teeth did not show significant difference in the analyses both using mtDNA and amelo-genin gene as an amplification target. To test the efficiency of DNA profiling of degraded low copy number DNA samples, mtDNA PCR quality evaluation and DNA typing for 16 autosomal STR and 9 Y chromosomal STR loci were per-formed and the correlation between DNA quantities and PCR amplification efficiencies of the samples was analyzed. The DNA quantities assayed by the simple method suggested in the present study could be good indicator for mtDNA and STR analysis. As the allele drop-out was observed in less than 0.050ng DNA samples, at least 0.100ng of DNA is required to produce informative STR profiles. Also, STRs with less than 200bp amplification sizes produce efficient DNA profiles in most cases. Therefore, the develop-ment of mini-STRs with less than 200bp amplification sizes is expected to improve DNA typing in degraded low copy number DNA. Y-STRs are easy to detect allele drop-out or drop-in, and accordingly the efficiency test of Y-STRs as well as autosomal STRs for profiling of degraded low copy number DNA samples is thought to be important.
Asunto(s)
Humanos , Persona de Mediana Edad , Alelos , Amelogenina , Dermatoglifia del ADN , ADN , ADN Mitocondrial , Reacción en Cadena de la Polimerasa , DienteRESUMEN
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.
Asunto(s)
Humanos , ADN , ADN Mitocondrial , Endopeptidasa K , Haplotipos , Corea (Geográfico) , Hígado , Pulmón , Momias , Reacción en Cadena de la Polimerasa , Análisis de Secuencia , Dióxido de SilicioRESUMEN
Panoramic radiography, which can show dental characteristics in one film and evaluate postmortem information, may be highly valuable in human identification. The purpose of this study is to evaluate usefulness of human identification with dental characteristics shown in panoramic radiography through panoramic radiographies of 300 randomly selected patients who visited Yonsei University Dental Hospital. Dental characteristics of each film were classified into 8 types and diversity of dental characteristics was evaluated by turning the informations into codes. Diversity of panoramic radiography using both maxillary and mandibular dental characteristics was 99.58%. When mandibular dental characteristic (98.99%) was used alone, the diversity was found to be higher than that of maxillary dental characteristic (97.92%). Maxillary dental characteristics showed diversity in the order of right molars (92.32%), left molars (92.02%), and incisors (41.54%), while that of mandible was in the order of right molars (96.09%), left molars (95.70%), and incisors (18.97%). As a result, human identification using panoramic radiography proved to be useful not only when the whole teeth are present but also when only molars are present. Therefore, it is expected to be applied more economically and practically in identifying a large number of victims from mass disasters as well as wars.
Asunto(s)
Humanos , Desastres , Antropología Forense , Incisivo , Mandíbula , Diente Molar , Radiografía Panorámica , DienteRESUMEN
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.
Asunto(s)
Femenino , Humanos , Masculino , Alelos , Discriminación en Psicología , ADN , Frecuencia de los Genes , Genotipo , Reacción en Cadena de la Polimerasa , Grupos de PoblaciónRESUMEN
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.
Asunto(s)
Humanos , Alelos , Amelogenina , Criminales , Bases de Datos de Ácidos Nucleicos , Discriminación en Psicología , ADN , Genotipo , Repeticiones de Microsatélite , Reacción en Cadena de la Polimerasa Multiplex , Paternidad , Reacción en Cadena de la Polimerasa , Estados UnidosRESUMEN
This study intends to evaluate usefulness of ABO gene in forensic identification. The genotype and allele frequency of ABO gene was investigated and the power of identification information of ABO gene was calculated. 100 unrelated Korean individuals were selected. DNA was extracted from sample and PCR and sequencing were performed to analyze sequence of exon 6 and exon 7 in ABO gene, the following results were obtained: 1. The polymorphic nucleotide positions of ABO gene are 216, 297 in exon 6 (2 positions) and 467, 526, 579, 646, 657, 681, 703, 771, 796, 803, 829, 930 in exon 7 (12 positions) in Korean. 2. Amomg Korean population, 18 ABO genotypes and 7 alleles were observed. O01 is most frequent (27.6%) and then A102 (22.0%), B101 (22.0%), O02 (21.0%). 3. In A type allele, the frequencies of A101 and A102 are 21.4%, 78.6% respectively. And in B type, B101 is 97.7%, the most part of them. In O type, O01 is 56.0%, O02 is 42.0% and O04 is 2.0%. 4. The observed heterozygosity and the expected heterozygosity is 0.670, 0.784 each. The polymorphism information content (PIC) is 0.744. The power of discrimination (PD) and the mean exclusion chance (MEC) are calculated to be 0.924 and 0.576. Based on the results of this study, the determination of ABO genotype by sequencing may be useful in forensic identification including finding an individual in relation to criminal case, paternity test, and confirming possible relationships between family members.
Asunto(s)
Humanos , Alelos , Criminales , Discriminación en Psicología , ADN , Exones , Frecuencia de los Genes , Genotipo , Paternidad , Reacción en Cadena de la Polimerasa , Análisis de SecuenciaRESUMEN
During the exhumation of victims of Korean War, among the memorial activities of Korean War, we found a dead body in a tomb in Kyung-Ju city. With the testimony of natives we could find the family related with the body. Using bone and teeth of it we determined that it was male and about 20 years old or more and the result was unite with the insistence of the bereaved family. With the photography offered by the family and the skull we did the photographic superimposition and according to the result we could not exclude that it was the same person with him. We performed mitochondrial DNA(mtDNA) sequencing and it reveals that the dead body and the family have same maternal inherited mtDNA. Finally, We could identify the dead body. At present it is very difficult thing to collect much data of victims of Korean War because it passed over 50 years. But if we find the bereaved family of them we can identify them more accurate and more objective with the forensic identification method like sex determination, age estimation, superimposition and mtDNA sequencing and so on.
Asunto(s)
Humanos , Masculino , Adulto Joven , ADN Mitocondrial , Exhumación , Guerra de Corea , Fotograbar , Grupos de Población , Cráneo , DienteRESUMEN
A Korean Airliner, KAL 858 was exploded over Thailand on November 29, 1987. The suspect with the forged Japanese passport was dead by biting an ample of cyanide gas contained in the filter tip of a cigarette. Forensic odontological examinations including bite mark, dental age estimation and dental characteristics were performed. From these examinations, it could be assumed that (1) he had specific difference in dental treatment which suggested a North Korean by comparison of the fisherman arrested under the North Korea, (2) the filter of cigarette was positioned between the suspect's dentition, (3) he was approximately 70 years old by dental age estimation at time of death. This paper indicates that forensic odontological examination can support personal identification and the circumstances of death in international case where disguised identity plays a part.
Asunto(s)
Anciano , Humanos , Pueblo Asiatico , Bombas (Dispositivos Explosivos) , República Popular Democrática de Corea , Dentición , Tailandia , Productos de TabacoRESUMEN
It is noteworthy that most unidentified dead are unnatural and violent deaths. The accurate identification of a decedent permits certification of death and notification of next of kin. Only then may they proceed with the probate of wills, apply for disbursement of benefits and insurance, and begin to work through the grieving process. Law enforcement agencies need positive identification to pick up the leads of investigation to develop suspects, establish the corpus delicti of homicide and reconstruct the sequence of events of a crime. Agencies and a variety of consultants are involved in recognizing and developing the unique features of a decedent that lead to identification. Cooperative working relations with newspaper and other media will help in publicizing the need for persons with information to come forward diagrammatically. In this paper, 5 individual identification cases in unexpected or homicidal deaths are described. The comparison between the postmortem and antemortem records show that the victims are correctly identified.
Asunto(s)
Humanos , Certificación , Consultores , Crimen , Homicidio , Seguro , Aplicación de la Ley , Publicación PeriódicaRESUMEN
It is noteworthy that most unidentified dead are unnatural and violent deaths. The accurate identification of a decedent permits certification of death and notification of next of kin. Only then may they proceed with the probate of wills, apply for disbursement of benefits and insurance, and begin to work through the grieving process. Law enforcement agencies need positive identification to pick up the leads of investigation to develop suspects, establish the corpus delicti of homicide and reconstruct the sequence of events of a crime. Agencies and a variety of consultants are involved in recognizing and developing the unique features of a decedent that lead to identification. Cooperative working relations with newspaper and other media will help in publicizing the need for persons with information to come forward diagrammatically. In this paper, 5 individual identification cases in unexpected or homicidal deaths are described. The comparison between the postmortem and antemortem records show that the victims are correctly identified.
Asunto(s)
Humanos , Certificación , Consultores , Crimen , Homicidio , Seguro , Aplicación de la Ley , Publicación PeriódicaRESUMEN
We report here estimating a victim who might be involved 5.18 Kwang Ju democratic movement in 1980. One skeletonized skull and mandible were sent for examination to see if any information could be elicited which might aid in search for the missing person. The examination was made on the usual lines, first to ascertain the sex, age, etc., then any particular features which might lead to identification, the circumstances of death and the length of time since the death took place. From the examination of the specimen it could reasonably be assumed (1) that the fracture of teeth and alveolar bone due to trauma which was speedily and strong (2) that the skull and mandible were belong to one person, (3) that the specimen was an adult man about 42 years old, (4) that he was dead before 6 years ago as a result of racemization. This paper indicates that forensic odontology examination have another valuable means of identification, i.e. dental age estimation, time interval since death, analysis of trauma in oral and facial region. This information can help in attempting to establish not only the personal identification but also the circumstances of death.
Asunto(s)
Adulto , Humanos , Mandíbula , Esqueleto , Cráneo , DienteRESUMEN
In this paper, a new superimposition scheme using a computer vision system was proposed with pairs of skull and ante-mortem photographs, which were already identified through other tests and DNA fingerprints at the Korea National Institute of Scientific Investigation. In this computer vision system, an unidentified skull was caught by video-camcoder with the MPEG and the other ante-mortem photograph was scanned by scanner. These two images were processed and superimposed using pixel processing. This recognition of individual identifications by anatomical references can be performed on the two superimposed images for many big cases like as Guam KAL accident in 1997.