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

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

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

OBJECTIVES: Considering large diversity of clinical presentation of schizophrenia, it is important to identify valid clinical subtypes or dimensions that might have homogeneous biological underpinning. The current study aimed to explore lifetime symptom-based dimensional phenotypes in patients with chronic schizophrenia, and to investigate their correlation with cognitive functions and other clinical characteristics. METHODS: Lifetime-based symptoms and additional clinical variables were measured using the Diagnostic Interview for Genetic Studies and the Schedule for the Deficit Syndrome in 315 clinically stable patients with chronic schizophrenia. Through principal components factor analysis, eight dimensional phenotypes were obtained. Comprehensive neuropsychological tests were administered for 103 out of 315 patients, and domain scores were calculated for cognitive domains defined in the MATRICS consensus battery. RESULTS: 'Non-paranoid delusion factor' including delusions of grandiose or religious nature, showed significant negative correlation with processing speed, working memory, attention/vigilance, and general cognitive ability, and positive correlation with intra-individual variability. 'Negative symptom factor' showed significant negative correlation only with general cognitive ability. Those two factors were also negatively correlated with function levels measured by Global Assessment Scale (GAS), and associated with poor treatment responses. CONCLUSION: Symptom-based dimensional phenotypes of schizophrenia measured on a lifetime basis showed discriminative correlation with cognitive function domains, global functioning level, and overall treatment responses, indicating their possibility as valid phenotype axes of schizophrenia having homogeneous biologic basis.
Appointments and Schedules ; Cognition ; Consensus ; Delusions ; Humans ; Memory, Short-Term ; Neuropsychological Tests ; Phenotype ; Schizophrenia*

In order to determine paternity by genetic testing, the Paternity Index (PI) and probability of paternity are calculated using likelihood ratio method. However, when it is necessary, additional testing can be performed to validate the genetic relationship. This research demonstrates autosomal short tandem repeat (STR) results of Jeju Island population in order to determine genetic relationship. Two notable cases showed that despite the acceptable PI value obtained from STR testing, average of 12 mismatches were found in total of 169 autosomal single nucleotide polymorphism typing. Such cases imply that cautious statistical approach is necessary when determining genetic relationship, especially within an isolated population group. Moreover, this would suggest that a further research and investigation are needed in order to understand the population structure of Korea.
Genetic Testing ; Humans ; Korea ; Microsatellite Repeats ; Oligonucleotide Array Sequence Analysis ; Paternity* ; Polymorphism, Single Nucleotide ; Population Groups

In recent years, genome-wide association (GWA) studies have successfully led to many discoveries of genetic variants affecting common complex traits, including height, blood pressure, and diabetes. Although GWA studies have made much progress in finding single nucleotide polymorphisms (SNPs) associated with many complex traits, such SNPs have been shown to explain only a very small proportion of the underlying genetic variance of complex traits. This is partly due to that fact that most current GWA studies have relied on single-marker approaches that identify single genetic factors individually and have limitations in considering the joint effects of multiple genetic factors on complex traits. Joint identification of multiple genetic factors would be more powerful and provide a better prediction of complex traits, since it utilizes combined information across variants. Recently, a new statistical method for joint identification of genetic variants for common complex traits via the elastic-net regularization method was proposed. In this study, we applied this joint identification approach to a large-scale GWA dataset (i.e., 8842 samples and 327,872 SNPs) in order to identify genetic variants of obesity for the Korean population. In addition, in order to test for the biological significance of the jointly identified SNPs, gene ontology and pathway enrichment analyses were further conducted.
Blood Pressure ; Genome-Wide Association Study ; Joints ; Obesity ; Polymorphism, Single Nucleotide

Purpose: We investigated the effects of economic status (classified based on insurance type and residential area) on oncological outcomes of prostate cancer using a nationwide database. We additionally investigated oncological outcomes based on economic status and residential area in patients who underwent surgical treatment. Materials and Methods: The study included 75,518 men with newly diagnosed prostate cancer between 2009 and 2018 in whom oncological outcomes were investigated based on economic status and residential area. Among the 75,518 men with prostate cancer, the data of 29,973 men who underwent radical prostatectomy were further analyzed. Multivariate analysis was performed to determine the effects of economic status and residential area on postoperative oncological outcomes. Results: Among the 75,518 patients with prostate cancer, 3,254 (4.31%) were medical aid beneficiaries. The 5-year overall survival rates were 81.2% and 64.8% in the health insurance and medical aid groups, respectively. Radical prostatectomy was more common in the health insurance group, and surgical intervention was significantly affected by the residential area. Among patients who underwent surgery, 5-year androgen deprivation therapy–free and overall survival were better in the health insurance group. Multivariate analysis showed that insurance type and residential area were significantly associated with the androgen deprivation therapy–free and overall survival after adjustment for other variables. Conclusion Economic status and residential area were shown to affect not only treatment patterns but also post-diagnosis and postoperative oncological outcomes. Political support for early diagnosis and appropriate treatment of prostate cancer is warranted for medically vulnerable populations.

Short tandem repeats (STRs) are the most popular markers for human identification in forensics. These markers can be easily analyzed through a multiplex polymerase chain reaction and electrophoresis and provide high discrimination power. However, in STR analysis, several atypical phenomena can be observed such as allelic dropouts, drop-ins, or imbalance, which may be due to DNA polymerase slippage or DNA degradation effects. The observed atypical STR profiles can also provide information for mixed DNA samples or chromosomal abnormalities. In this study, we report a case of mosaicism detected in routine casework of paternity testing. Hair samples from a phenotypically normal male were tested, and the result presented a typical STR profile of a female for the amelogenin gene (XX). Through chromosome analysis using peripheral blood, it was found that 45,X/46,XY mosaicism resulted in the discrepancy between the genotype and the phenotype. In addition, the amount of Y chromosome detected was particularly low in hair compared to that in blood. This study shows that mosaicism can make interpretation difficult during STR analysis and suggests that sample types and repeated analysis should be considered even for routine STR testing.

Objectives: Difficulties in interpersonal relationships intensify negative emotions and act as risk and maintenance factors for eating pathology in eating disorders. Rejection sensitivity refers to the tendency to react sensitively to a rejection. Patients with eating disorders experience difficulties in interpersonal relationships because of their high sensitivity to rejection. Cognitive bias modification interpretation (CBM-I) is a treatment developed to correct interpretation bias for social and emotional stimuli. In this review, we searched for research characteristics and trends through a systematic literature analysis of CBM-I for eating disorders. Methods: Five papers that met the selection and exclusion criteria were included in the final literature review and analyzed according to detailed topics (participant characteristics, design, and results). Results: The literature supports the efficacy of the CBM-I in reducing negative interpretation bias and eating disorder psychopathology in patients with eating disorders. CBM-I targets emotional dysregulation in adolescent patients with eating disorders and serves as an additional strengthening psychotherapy to alleviate eating disorder symptoms. Conclusion The current findings highlight the potential of CBM-I as an individualized adjunctive treatment for adolescents with eating disorders and social functioning problems.

Mitochondrial DNA (mtDNA) genome analysis has been a potent tool in forensic practice as well as in the understanding of human phylogeny in the maternal lineage. The traditional mtDNA analysis is focused on the control region, but the introduction of massive parallel sequencing (MPS) has made the typing of the entire mtDNA genome (mtGenome) more accessible for routine analysis. The complete mtDNA information can provide large amounts of novel genetic data for diverse populations as well as improved discrimination power for identification. The genetic diversity of the mtDNA sequence in different ethnic populations has been revealed through MPS analysis, but the Korean population not only has limited MPS data for the entire mtGenome, the existing data is mainly focused on the control region. In this study, the complete mtGenome data for 186 Koreans, obtained using Ion Torrent Personal Genome Machine (PGM) technology and retrieved from rather common mtDNA haplogroups based on the control region sequence, are described. The results showed that 24 haplogroups, determined with hypervariable regions only, branched into 47 subhaplogroups, and point heteroplasmy was more frequent in the coding regions. In addition, sequence variations in the coding regions observed in this study were compared with those presented in other reports on different populations, and there were similar features observed in the sequence variants for the predominant haplogroups among East Asian populations, such as Haplogroup D and macrohaplogroups M9, G, and D. This study is expected to be the trigger for the development of Korean specific mtGenome data followed by numerous future studies.