Archaeogenetics is an academic discipline that aims to establish scientific facts of human history by integrating ancient DNA analyses with archaeological and anthropological evidence. After ancient DNA research was initiated about 30 years ago, it has been innovated so rapidly that the range of analysis has been extended toward the whole genome sequence of ancient genomes in recent 10 years. By this development, researchers have been able to study in detail the origins and migration patterns of hominin species and ancient human populations by approaches of evolutionary genetics. This study has reviewed main principles of the archaeogenetic analysis and the current trends of ancient genome studies with recent achievements. While sampling techniques and statistical analyses have been improved, typical research methods have been established by the findings on hominins and ancient western Eurasia populations. Recently, archaeogenecists have been applying the methods to studying those in other geographical areas. Nonetheless, there is still the lack of ancient genome research about populations in Eastern Asia including the Korean peninsula. This review ultimately aims to predict possibilities and promise of future ancient genome studies of ancient Korean populations.
DNA ; Far East ; Genetics ; Genome* ; Hominidae ; Humans

PURPOSE: To study the refractive outcome of cataract surgery employing partial coherence interferometry (PCI) and to compare this outcome with that of A-scan ultrasound in a prospective study of 96 eyes of 96 patients that underwent phacoemulsification with intraocular lens (IOL) implantation. METHODS: The SRK-T formula was employed, using PCI (IOL Master(R): the only commercially available model) and A-scan ultrasound data, to predict patients' implanted IOL power. Four to six weeks after cataract surgery, the refractive outcome was determined, and results from the two different biometry methods were compared. RESULTS: Ninety-six patients (mean age: 67.64, SD: 9.91) underwent phacoemulsification with IOL implantation. The optical axial length obtained using the IOL Master(R) was significantly longer (p<0.001, Student's t-test) than the axial length obtained via by A-scan ultrasound, 24.29 (SD 1.80) mm vs. 24.19 (1.75) mm. When using the IOL Master(R), the mean prediction error (PE; planned target of refraction - postoperative refraction) was 0.30 (0.60) D, and the mean absolute prediction error (APE) was 0.51 (0.44) D. When using A-scan ultrasound, the mean PE was 0.01 (0.64) D, and the mean APE was 0.47 (0.43) D. The difference in mean APE between the two biometry methods was not statistically significant (p=0.236, Wilcoxon signed rank test). Among the eyes with an axial length greater than 25 mm, as determined by A-scan ultrasound, the difference in the mean APE was not statistically significant (0.48 (0.87) vs. 0.58 (0.61), p=0.094). Likewise, among the eyes for which with axial length measured by A-scan ultrasound longer than IOL Master(R), the difference in the mean APE error was not statistically significant, (0.33 (0.30) vs. 0.46 (0.41), p=0.110). CONCLUSIONS: IOL power calculation using the PCI is as accurate as that using A-scan ultrasound for predicting the postoperative refractive state of patients who have undergone cataract surgery.
Biometry ; Cataract ; Hominidae ; Humans ; Interferometry ; Lenses, Intraocular ; Phacoemulsification ; Prospective Studies ; Ultrasonography*

Karyotype analysis by G-anding is the standard method for identifying numerical and structural chromosomal aberrations in cytogenetic laboratories. However, the origins of marker chromosomes, subtle translocations, or complex chromosomal rearrangements are often difficult to identify with certainty. Cross-pecies color banding is a new FISH-ased screening technique that enables the generation of a specific color banding pattern for each human chromosome based on the genomic homologies between man and various species of apes. We report application of Cross-pecies color banding (RxFISH) to characterize the chromosomal rearrangements of one leukemia sample the G-and karyotype of which were incomplete. The combination of G-anding and RxFISH in this case study yielded additional information beyond that obtained by either technique used alone in determining the precise breakpoints in complex chromosomal rearrangements.
Chromosome Aberrations ; Chromosomes, Human ; Cytogenetics ; Hominidae ; Humans ; Karyotype ; Leukemia ; Mass Screening

Karyotype analysis by G-anding is the standard method for identifying numerical and structural chromosomal aberrations in cytogenetic laboratories. However, the origins of marker chromosomes, subtle translocations, or complex chromosomal rearrangements are often difficult to identify with certainty. Cross-pecies color banding is a new FISH-ased screening technique that enables the generation of a specific color banding pattern for each human chromosome based on the genomic homologies between man and various species of apes. We report application of Cross-pecies color banding (RxFISH) to characterize the chromosomal rearrangements of one leukemia sample the G-and karyotype of which were incomplete. The combination of G-anding and RxFISH in this case study yielded additional information beyond that obtained by either technique used alone in determining the precise breakpoints in complex chromosomal rearrangements.
Chromosome Aberrations ; Chromosomes, Human ; Cytogenetics ; Hominidae ; Humans ; Karyotype ; Leukemia ; Mass Screening

Like the body of Hominin, mind is the result of natural selection. Therefore, an evolutionary approach in the biological aspects is essential for an intrinsic understanding of mental disorders. However, the evolutionary medical approach to mental disordershas not been well researched because evolutionary psychiatry is not widely accepted, and the conceptual paradigm has not been unified. Nevertheless, some evolutionary hypotheses about some mental disorders have been proposed, including the following: 1) thesimple disease argument that mental disorder is a mere disease, 2) the genomic lag hypothesis that current genes are incompatible with evolutionary environmental changes, 3) the developmental mismatch hypothesis that brain development cannot reflect entire-information of surrounding environment, 4) the trade-off hypothesis that costs are offset by other adaptive benefits, 5) the by-product hypothesis that mental disorders are inevitable outcome of evolutionary design, 6) the cliff-edge model that the encephalizationin the Hominin caused mental disorders, 7) the inclusive fitness hypothesis that costs of individual are compensated by benefits of kinship, 8) the antagonistic polymorphism hypothesis that differential costs and benefits according to sex or age cause ofpolymorphic psychological traits 9) the heterozygote advantage hypothesis that the heterozygous genotypes have higher relative fitness, so they can persist even though homozygous genotypes cause mental disorders, and 10) a genomic imprinting hypothesis that conflicts between maternal genes and paternal genes cause mental disorders. I will summarize and compare the evolutionary hypotheses of mental disorders and present the lim itations of each hypothesis.
Brain ; Cost-Benefit Analysis ; Genomic Imprinting ; Genotype ; Heterozygote ; Hominidae ; Humans ; Mental Disorders ; Selection, Genetic

BACKGROUND/AIMS: Chronic thromboembolic pulmonary hypertension (CTEPH) is a life-threatening complication after acute pulmonary embolism (APE) and is associated with substantial morbidity and mortality. This study aimed to investigate the incidence of CTEPH after APE in Korea and to determine echocardiographic predictors of CTEPH. METHODS: Among 381 patients with APE confirmed by chest computed tomography (CT) between January 2007 and July 2013, 246 consecutive patients with available echocardiographic data were enrolled in this study. CTEPH was defined as a persistent right ventricular systolic pressure (RVSP) greater than 35 mmHg on echocardiography during follow-up and persistent pulmonary embolism on the follow-up CT. RESULTS: Fifteen patients (6.1%) had CTEPH. The rate of right ventricular (RV) dilatation (66.7% vs. 28.1%, p = 0.002) and the RVSP (75.5 mmHg vs. 39.0 mmHg, p < 0.001) were significantly higher in the CTEPH group. D-dimers, RV dilatation, RV hypertrophy, RVSP, and intermediate-risk APE were associated with the risk of CTEPH after APE (odds ratio [OR] 0.59, 5.11, 7.82, 1.06, and 4.86, respectively) on univariate analysis. RVSP remained as a significant predictor of CTEPH on multivariate analysis (OR, 1.056; 95% confidence interval, 1.006 to 1.109; p = 0.029). CONCLUSIONS: This study showed that the incidence of CTEPH after APE in Korea was 6.1% and that initial RVSP by echocardiography was a strong prognostic factor for CTEPH.
Blood Pressure ; Dilatation ; Echocardiography* ; Follow-Up Studies ; Hominidae ; Humans ; Hypertension, Pulmonary* ; Hypertrophy ; Incidence ; Korea* ; Mortality ; Multivariate Analysis ; Pulmonary Embolism* ; Thorax

BACKGROUND: Apo E lipoprotein is made up of 299 amino acid and is classified into three major isoforms(E2, E3 and E4). Aop E lipoprotein plays an important role in the regulation of the lipid metabolism. The purpose of this study is to evaluate the variations of plasma lipids depending on the apo E genotype in the Korean males. METHODS: We studied 257 male subjects without evidence of coronary artery disease. Apo E genotyping was determined with the INNO-line probe assay apo E test, which is based on reverse hybridization. RESULTS: Apo E genotype frequencies for 257 subjects were as follows, 73.9% for epsilon3/3, 16% for epsilon4/3, 8.2% for epsilon3/2, 1.2% for epsilon2/2, and 0.8 for epsilon4/4. We found significant differences in apo E allele frequencies of our subjects campared with those of western populations. Compared to the subjects with apo epsilon3, the subjects with apo epsilon2 was associated with higher levels of triglyceride, and the subjects with apo epsilon4 had lower levels of HDL cholesterol. CONCLUSION: The frequencies of apeE genotype varies depending on the ethnic origin. ApoE polymorphism plays an important role in determining individual differences in plasma lipids.
Apolipoproteins E ; Apolipoproteins* ; Cholesterol, HDL ; Coronary Artery Disease ; Gene Frequency ; Genotype ; Hominidae ; Humans ; Individuality ; Lipid Metabolism ; Lipoproteins ; Male* ; Plasma* ; Triglycerides

This study was performed to verify whether transcranial magnetic stimulation (TMS) ca induce seizures in epileptic patients or not and to compare motor evoked potentials (MEP between patients with idiopathic epilepsy and normal control group. MEP were elicited witl TMS using a magnetic coil in 22 normal control group (16 men and 6 women) and 3 epileptic patients (19 men and 12 women). MEP were recorded by using digitimer magneti stimulator model D190 and Medelec ER94a/Sensor apparatus, and MEP were evoked b magnetic stimulations at the vertex, the 7th cervical vertebra and Erb's ploint. Central motor conduction time (CMCT) was calculated by subtracting the latency of compound muscle action potentials from abductor pollicis brevis (APB) muscle obtained by magnetic stimulation over C7/T1 interspace from that obtained by stimulation over the motor cortex. The mean latency, arnplitude of MEP from APB and CMCT at three stimulus sites, were not significant difference between age and height matched patients with generalized seizure and norrnal control group. In patients with focal seizure, the mean latency of MEP from APE and CMCT at three stimulus sites. Were not significant difference between involved site anc uninvolved site. Seizures of any type were not observed during and 1 hour after TMS in norrnal contro group and epileptic patients. The seizure frequencies in 2 months before and after TMS were not significant difference in patients with focal seizure and generalized seizure. This result suggested that TMS as currently used for the study of corticomotor evoked responses does not induce seizures in epileptic patients receiving antiepileptic drug therapy.
Action Potentials ; Drug Therapy ; Epilepsy ; Evoked Potentials, Motor* ; Hominidae ; Humans ; Male ; Motor Cortex ; Seizures ; Spine ; Transcranial Magnetic Stimulation*

PURPOSE: The purpose of this study was to illuminate the life experiences of 10 Korean men with HIV. METHOD: This is qualitative research using a grounded theory methodology. RESULT: A core category-enduring under the yoke of HIV and 5 subcategories emerged: Accepting the fact of HIV infection unwillingly with shock, Conflict between the secret concealment and disclosure, Resisting social prejudice and discrimination, Change of the daily life and management of health, Remembering their past lives without HIV and reconstructing their own lives with HIV. CONCLUSION: The findings contributed to understanding the HIV/AIDS illness experiences among men with hetero and homo sexuality, and revealing the prejudice against HIV in Korean society. The results have very important implications for health care professionals working with HIV-positive men.
Delivery of Health Care ; Disclosure ; Discrimination (Psychology) ; HIV ; HIV Infections ; Hominidae ; Humans ; Life Change Events* ; Male ; Prejudice ; Qualitative Research ; Sexuality ; Shock

Structural and functional changes in the major apurinic/apyrimidinic DNA endonuclease (APEX) gene in human colorectal cancers were investigated. DNAs were prepared from surgically removed 25 human colorectal tissues and direct sequencing of PCR-amplified APEX gene covering the entire protein coding region was performed. Point mutations in 3 and silent mutations in 3 out of 25 colorectal cancer patients were found. Base substitutions in intron II were also found in 2 patients. T<-> C or some A<-> G transitions were the most typical pattern of the mutations. AP DNA endonuclease (APE) activities in normal and tumor tissues were 65.7 EU/mg and 21.7 EU/mg, respectively. APEX protein was detected in both normal and tumor tissues and no remarkable difference in the amount of APEX protein between colorectal cancer tissues and their normal counterparts was observed. The incidence of APEX gene mutation in colorectal cancer was 12% which is relatively lower than that of other genes associated with colorectal tumor, but a significant reduction of APE enzyme activities in tumor tissues, especially in those with APEX mutations, was observed. These results indicate that the decreased APE enzyme activity might be closely related to the colorectal tumorigenesis, although no quantitative correlation between APE enzyme activity and APEX content exists.
Carcinogenesis ; Colorectal Neoplasms* ; Deoxyribonuclease I ; DNA Repair* ; DNA* ; Hominidae ; Humans* ; Incidence ; Introns ; Open Reading Frames ; Point Mutation