A case of lymphatic cyst of the adrenal gland in a 55-year-old woman is described. The patient presented with vague abdominal pain, and abdominal CT and ultrasonography suggested a pancreatic cyst. The cyst, 10x8x6 cm in size, was found in the left adrenal gland; it was multilocular and septated with thin walls that were lined by a single layer of attenuated cells. The lining cells gave a weak positive immunoreactivity against factor VIII-related antigen and Ulex eurapaeus, and ultrastructural study revealed the lining cells to be of endothelial origin. Together with small tiny proliferative cystic spaces were intermixture of the normal adrenal cortical cells in the transition zone between large cysts and adrenal cortex. No histologic distinction between cystic lymphangioma and lymphangiectatic cyst was obtained; instead, a term of lymphatic cyst seems preferred unless otherwise confirmed. With its classification, the pathogenesis of adrenal lymphatic cysts is reviewed.
Female ; Humans ; Cysts

We present 20 medicolegal autopsies performed at the Department of Forensic medicine, Seoul National University Medical College during the year of 1996. In Korea Postmortem Invesigation (PI) system is not established and is needed greatly provide the basic considerations on PI system, we detailed the cases with impediments to be overcome. Among the 20 cases, 13cases were unusual deaths and 6 cases were natural. For unusual deaths, 7 were by mechanical injuries, four by asphyxia. Test for toxic stance was the most needed part to be solved.
Asphyxia ; Autopsy* ; Forensic Medicine ; Humans ; Korea ; Seoul

At "Keumjung-gul" site, bones of more than 153 persons are excavated in October 1995. They were interred in Autumn of 1950 during Korean War. Among them, 70 skulls were examined in morphological method and DNA test for sex determination. With PCR amplification of amelogenin, 60 skulls were proved male, 9; female, 1; not amplified. Result with Y27H39LR, SRY and alphoid repeats were not satisfactory. The morphologic determination for sex were made maily by (1) prominence of the supercilliary arch, (2) prominence of the external occipital protuberance and crest, (3) size and shape of the mastoid process. The concurrence rate between two examiner, and between two morphologic result and DNA result were low (<70%), largely because of the subjectivity of morphologic trait and the paucity of experiences.
Amelogenin ; DNA* ; Female ; Humans ; Korean War ; Male ; Mastoid ; Polymerase Chain Reaction ; Skull*

We report an autopsy of a male fetus that showed multiple congenital anomalies that could best be designated as Meckel-Gruber syndrome. The fetus was born dead at the gestational age of 38 weeks. His parents denied any history of congenital malformation. And the parity of the mother was 0-0-0-0, but she had the past history of receiving herb medication for common cold. The congenital anomalies found in this case consited of occipital meningoencephalocele, midline cleft palate, bifid epiglottis, hepatic fibrosis, choledochal cyst, bilateral polycystic kidneys, postaxial polydactyly of both hands and feet, aplasia of the left testis, secundum type atrial septal defect and patent ductus arterious. This malformation syndrome is rare and lethal. The prenatal diagnosis should be made by ultrasound study or analysis of the amniotic fluid for alpha-feto protein during intrauterine period. The kidneys showed Potter type III cystic change and there was a characteristic hepatic fibrosis.
Male ; Humans

No abstract available.
Fires*

To know the amplification pattern according to relative concentration ratio in mixed samples, two STRloci, vwF locus and MBP locus and two VNTR loci, D1S80 locus and d17S5 locus were amplified in DNA with various concentration of two individuals were easily identified. But when the concentration of one person were lowered to 1/20-1/40 of the other's the intensity of product bands diminshed and hardly discernible. Also different amplification efficiency according to the template length was noted, especially in VNTR loci. Using automatic sequencer and RFLP scan program, the intensity OD of each PCR product band could be calculated, and this correlates the felative amplification efficiency of each allele. By using this we could construct quantitative PCR for the mixed samples. This could be used in practical case work for forensic purpose, and also be a valuable candidate for 'chimerism detection' in case of bone marrow transplatation.
Alleles ; Bone Marrow ; DNA ; Humans ; Minisatellite Repeats ; Polymerase Chain Reaction* ; Polymorphism, Restriction Fragment Length

DNA profiling with sets of short tandem repeat (STR) markers is the most popular method for identifying human DNA in forensics. Identification by STR typing might fail when DNA is degraded or is present in low amounts, such as in disaster victim identification (DVI) samples. In such cases, more information might be obtained by using additional markers such as single nucleotide polymorphisms (SNPs). Multiplex PCR and microarray are convenient techniques to analyze SNP markers. We used an AccuID(TM) Chip, SNP-based DNA chip manufactured by DNA Link Corporation, to confirm genetic relationship between two human bone samples that had been buried for more than 50 years and blood samples from the alleged descendants of the sources of the bone fragments. The chip combines an Affymetrix resequencing array with a multiplex PCR technology and can genotype hundreds of SNP markers in a single experiment. Genotyping the two bone samples yielded 90.5 and 77 SNP markers. The commonly genotyped markers (61 and 47 SNP loci) in each bone-family pair provided high paternity indices to support the genetic relationships in both cases.
Disasters ; DNA Fingerprinting ; DNA* ; Forensic Anthropology* ; Genotype ; Humans* ; Microsatellite Repeats ; Multiplex Polymerase Chain Reaction ; Oligonucleotide Array Sequence Analysis* ; Paternity ; Polymorphism, Single Nucleotide

Serum is free of cellular components. Because DNA is located in the nuclei or mitochondria of cells, serum could be assumed DNA free. Few previously published case reports to date have used serum for DNA typing. Here, we report on human genotyping via short tandem repeat (STR) analysis using serum as a sample, and discuss problems involved in the process.
DNA Fingerprinting* ; DNA* ; Humans ; Microsatellite Repeats* ; Mitochondria

Multiplex PCR for three STRs of same repetition unit [GATA]n, 4804LR[D12S66], 27H39LR[DYS19] and 4815LR[D12S67] loci, was constructed for forensic application DNA was extracted from 200 unrelated Koreans and amplified with a mixture of polyacrylamide gel electrophoresis, so called Amp-FLP procedure. Three loci could be co-amplified in a reaction with easy, and reaction condition was not so quite different from that of each locus. The PCR products of each locus could be separated bp, and 4815LR from 241 bp to 281 bp, so these alleles of each locus could be separated on a single electrophoresis. A total of six alleles was noted in 4804LR and heterozygosity was 0.5764. The allele 11 and allele 12 were frequently noted with the frequency of 0.6225 and 0.1775, respectively. Sequencing was done for 2 alleles, and the exact size of the alleles and the repetition unit were confirmed. Through statistical analysis forensic applicability of the STR 4804LR locus was confirmed. For 4815LR and heterozygosity was 0.5764. The allele 11 and llele 12 were frequently noted with the frequency of 0.6225 and 0.1775, respectively. Sequencing was done for 2 alleles, and the exact size of the alleles and the repetition unit were confirmed. Through statistical analysis forensic applicability of the STR 4804LR locus was confirmed. For 4815LR locus the amplification was successful, but the separation of the alleles on routine polyacrylamide gel was not successful. Some alleles was hardly separable, some alleles did not match the allelic ladder exactly, so the interallele was suspicious. On sequencing gel the electrophoresis pattern was quite different with that of routine polyacrylamide gel. A total of 11 allele was noted in 4815LR and heterozygosity was 0.765. For the routine use of the 4815LR locus, more meticulous method for the separation of the alleles such as using automatic DNA sequencer was necessary.
Alleles ; DNA ; Electrophoresis ; Electrophoresis, Polyacrylamide Gel ; Multiplex Polymerase Chain Reaction* ; Polymerase Chain Reaction

Recently, studies on mitochondrial DNA (mtDNA) have increased rapidly. Conventional parameters, such as diversity index, pairwise comparison, are used to interpret and validate data on autosomal DNA; however, the use of these parameters to validate data from mitochondrial DNA databases (mtDNA DBs) needs to be verified because of the different transmission patterns of mtDNA. This study was done to verify the use of these conventional parameters and to test the "coverage concept" for a new parameter. The mtDNA DB is not very big; however, it is necessary to check how the change in parameters corresponds to the DB size. For this, we artificially rearranged a Korean DB into several small sub-DBs of variable sizes. The results show that the diversity in nucleotide variations and the different haplotype numbers do not vary as the size of DB increases. However, the "coverage" changed a lot. The coverage increased from 0.113 in a DB of 100 people to 0.260 in a DB of 653 people. Additionally, using the "coverage concept", we predicted how the total number of haplotypes changed with variations in the sub-DB size and compared the predicted result with final result. In conclusion, "coverage", in addition to conventional statistical parameters, can be used to check the usability of an mtDNA DB. Finally, we tried to predict the size of the whole mtDNA number in Korea using "saturation concept".
DNA ; DNA, Mitochondrial* ; Haplotypes ; Korea ; Phylogeny