• The korean journal of orthodontics
• /
• v.34 no.6 s.107
• /
• pp.537-543
• /
• 2004

Microsatellit markers are considered to be very promising genetic markers for genetic linkage analysis. The majority of the markers are as informative as in Caucasians but there are significant ethnic differences in the genetic variations. In order to investigate the genetic variations in the Korean and Japanese populations and their ethnic differences, 51 microsatellite marker loci spanning the whole human chromosome 1 were arranged from a commercially available set (ABI PRISM Linkage Mapping Set-HD5, Applied Biosystems, Foster City, CA, USA), and then determined the allelic frequencies and heterozygosities for these marker loci in the 90 unrelated Korean subjects and 90 unrelated Japanese subjects. Of all 51 markers tested, significant differences were observed when microsatellite allele frequency pattern of Korean was compared with those of Caucasian, while this pattern was highly similar between Korean and Japanese populations. Our data indicate that an extensive verification of public microsatellite markers in a particular population study should be undertaken prior to their linkage studies. Moreover, this information should facilitate genetic linkage studies of various hereditary diseases, especially in the Koreans and Japanese.

• Journal of Radiation Protection and Research
• /
• v.22 no.4
• /
• pp.227-235
• /
• 1997

Cytogenetic studies were performed in peripheral blood lymphocytes from hospital workers occupationally exposed to low doses of radiation (0.30 - 40.07mSv). The workers were divided into three groups according to their job area : 18 diagnostic radiology, 17 therapeutic radiology, and 16 nuclear medicine. The control group consisted of 49 non-radiation workers with no history of exposure to radiation. A higher percentage of cells with aberration(1.275%) was observed in the workers compared to the controls(0.677%) and the difference was statistically significant(p<0.001). The frequency of chromosomal aberration was $0.706{\times}10^{-2}$/cell in the exposed and $0.344{\times}10^{-2}$/cell in the control(p<0.05). Chromosomal exchange frequency was $0.083{\times}10^{-2}$/cell in the control vs $0.245{\times}10^{-2}$/cell in the workers. There was no evidence of significant increase of chromosome aberration related to age or to the duration of employment. The frequency of chromosomal exchange in workers of nuclear medicine was $0.313{\times}10^{-2}$/cell, which was significantly higher than in the control($0.083{\times}10^{-2}$/cell) or other working groups: therapeutic radiology($0.265{\times}10^{-2}$/cell), and diagnostic radiology($0.167{\times}10^{-2}$/cell). No dose-effect relation was found between chromosome aberration and total cumulative doses, recent 5 yr, recent 2 yr cumulative dose. But in case of last 1 yr cumulative dose, dose-dependant increase was observed when controls were considered(p<0.05). The radiation dose which workers have received was much lower than the maximum permissible dose, but there was a significant difference in the frequency of chromosome aberration between occupationally exposed workers and control. So, it is clear that chromosome aberration is a quite sensitive indicator of radiation exposure and it can be detected at very low dose level of occupational exposure.

• Korean Journal of Biological Psychiatry
• /
• v.3 no.2
• /
• pp.162-169
• /
• 1996

An association study with korean schizophrenic patients(N=75) and normal controls(N=87) was performed to find the relationship between D6S274 polymorphism and schizophrenia using polymerase chain reaction. Nine different alleles of a dinucleotide polymorphism on D6S273 locus were observed in both group. When we compared the frequencies of alleles between schizophrenics and normal controls, there was no significant difference between two groups. To increase homogeneity of schizophrenic group, we divided schizophrenic group by clinical phenotypes such as DSM-IV diagnostic subtype, family history, negative and positive symptoms(PANSS), soft neurologic signs(NES-K). Then we compared the frequencies of alleles among subgroups of clinical phenotypes. there was only significant difference between two subgroups on soft neurologic signs(p<0.05). Although our findings fail to provide on evidence of association between schizophrenia and D6S274 locus, follow-up investigation of this locus may be needed in homogeneous subtypes of schizophrenia and schizophrenic pedigrees.

• Journal of Animal Science and Technology
• /
• v.65 no.6
• /
• pp.1194-1204
• /
• 2023

Meat quality comprises a set of key traits such as pH, meat color, water-holding capacity, tenderness and marbling. These traits are complex because they are affected by multiple genetic and environmental factors. The aim of this study was to investigate the molecular genetic basis underlying nine meat quality-related traits in a Yorkshire pig population using a genome-wide association study (GWAS) and subsequent biological pathway analysis. In total, 45,926 single nucleotide polymorphism (SNP) markers from 543 pigs were selected for the GWAS after quality control. Data were analyzed using a genome-wide efficient mixed model association (GEMMA) method. This linear mixed model-based approach identified two quantitative trait loci (QTLs) for meat color (b^*) on chromosome 2 (SSC2) and one QTL for shear force on chromosome 8 (SSC8). These QTLs acted additively on the two phenotypes and explained 3.92%-4.57% of the phenotypic variance of the traits of interest. The genes encoding HAUS8 on SSC2 and an lncRNA on SSC8 were identified as positional candidate genes for these QTLs. The results of the biological pathway analysis revealed that positional candidate genes for meat color (b^*) were enriched in pathways related to muscle development, muscle growth, intramuscular adipocyte differentiation, and lipid accumulation in muscle, whereas positional candidate genes for shear force were overrepresented in pathways related to cell growth, cell differentiation, and fatty acids synthesis. Further verification of these identified SNPs and genes in other independent populations could provide valuable information for understanding the variations in pork quality-related traits.

• Asian-Australasian Journal of Animal Sciences
• /
• v.18 no.11
• /
• pp.1524-1528
• /
• 2005

Molecular genetic markers were used to detect chromosomal regions which contain economically important traits such as growth, carcass, and meat quality traits in pigs. A three generation resource population was constructed from a cross between Korean native boars and Landrace sows. A total of 240 F2 animals from intercross of F1 was produced. Phenotypic data on 17 traits, birth weight, body weights at 3, 5, 12, and 30 weeks of age, teat number, carcass weight, backfat thickness, body fat, backbone number, muscle pH, meat color, drip loss, cooking loss, water holding capacity, shear force, and intramuscular fat content were collected for F2 animals. Animals including grandparents (F0), parents (F1), and offspring (F2) were genotyped for 80 microsatellite markers covering from chromosome 1 to 10. Least squares regression interval mapping was used for quantitative trait loci (QTL) identification. Significance thresholds were determined by permutation tests. A total of 10 QTL were detected at 5% chromosome-wide significance levels for growth traits on SSCs 2, 4, 5, 6, and 8.

• Genomics & Informatics
• /
• v.4 no.1
• /
• pp.11-15
• /
• 2006

The aim of this study is to identify hRad21-binding sites in human chromosome, the core component of cohesin complex that held sister chromatids together. After chromatin immunoprecipitation with an hRad21 antibody, it was cloned the recovered DNA and sequenced 30 independent clones. Among them, 20 clones (67%) contained repetitive elements including short interspersed transposable elements (SINE or Alu elements), long terminal repeat (LTR) and long interspersed transposable elements (LINE), fourteen of these twenty (70%) repeats clones had Alu elements, which could be categorized as the old and the young Alu Subfamily, eleven of the fourteen (73%) Alu elements belonged to the old Alu Subfamily, and only three Alu elements were categorized as young Alu subfamily. There is no CpG island within these selected clones. Association of hRad21 with Alu was confirmed by chromatin immunoprecipitation-PCR using conserved Alu primers. The primers were designed in the flanking region of Alu, and the specific Alu element was shown in the selected clone. From these experiments, it was demonstrated that hRad21 could bind to SINE, LTRs, and LINE as well as Alu.

• Asian-Australasian Journal of Animal Sciences
• /
• v.15 no.3
• /
• pp.321-325
• /
• 2002

Karyotype analysis was carried out on blood samples of 30 water buffaloes belonging to different breed groups (i.e. Philippine Carabao (PC), Indian Murrah (IM), Bulgarian Murrah (BM), "$F_1$ 50% IM-50% PC", "$F_1$ 50% BM-50% PC" and "75% IM-25% PC"), using the modified Leucocyte Culture Technique. The modal chromosome numbers of the PC, "$F_1$ 50% IM-50% PC", "$F_1$ 50% BM-50% PC", IM, BM and "75% IM-25% PC" were 2n=48, 49, 49, 50, 50 and 50, respectively. The water buffalo chromosomes are mostly acrocentric (79.67%) and the remainder submetacentric (20.33%). Results of the ordinary least square analysis showed significant breed effects (p<0.01) on other karyotypic characteristics (i.e. relative length, arm ratio and centromeric index). Significant correlation between karyotypic characteristics and some animal performance traits were also found. The significant correlation values imply that karyotypic characteristics can be used as important criteria to select potentially productive young water buffaloes. In the future, more production and reproduction traits from non-institutional herds should be included in the analysis to reveal meaningful correlations with various karyotypic characteristics.

• Asian-Australasian Journal of Animal Sciences
• /
• v.19 no.7
• /
• pp.953-957
• /
• 2006

The eukaryotic elongation factor 1 A (EEF1A) participates in protein synthesis by forming the eEF1A GTP tRNA complex to deliver aminoacyl-tRNA to the A site of ribosomes. This study described cDNA sequences and partial genomic structure of porcine EEF1A1. The porcine EEF1A1 gene encoded a protein with 462 amino acids, which shared complete homology with human, chimpanzee and dog. The temporal expression pattern showed the diversity of EEF1A1 level in mRNA was relatively minor in prenatal embryo skeletal muscle, however, the expression decreased during aging after birth in skeletal muscle of the Chinese Tongcheng pig. The spatial expression patterns indicated that the gene expressed in skeletal muscle, heart, lung, liver, kidney, fat and spleen. In addition, we assigned the gene to porcine chromosome 1 using a radiation hybrid panel.

• Asian-Australasian Journal of Animal Sciences
• /
• v.16 no.3
• /
• pp.320-324
• /
• 2003

The objective of this study was to localize QTL affecting meat quality in a pig family of three generations. All animals were genotyped for twenty-four microsatellites on SSC3 (Sus scrofa chromosome 3), SSC4 and SSC7. One hundred and forty $F_2$ offsprings were scored for eleven meat quality traits. Least square regression interval mapping revealed quantitative trait loci (QTL) effect for meat pH (m. Semipinalis Capitis, SC) on SSC4 and SSC7; for moisture (m. Longissimus Dorsi, LD) on SSC3. Furthermore, there was suggestive evidence for a QTL on SSC4 affecting intramuscular fat (IMF) content that nearly approached the chromosomewise (p=0.05) significance threshold.

• Asian-Australasian Journal of Animal Sciences
• /
• v.14 no.12
• /
• pp.1665-1669
• /
• 2001

A QTL was localized near S0120 on porcine chromosome 18. The QTL was significant (p<0.05) for average daily gain (ADG) of body weight and backfat thickness (BFT). The estimates of additive and dominance effects for the QTL were 0.0135 kg/day (p<0.001) and 0.0138 kg/day (p>0.5) for ADG and 1.6115 mm (p<0.001) and 0.9281 mm (p>0.05) for BFT. The location of this QTL coincided with a few growth hormone pathway genes. This study suggested that a QTL allele probably resulted from a mutation responsible for physiological lipase deficiency favoring obesity. This QTL might be important to obesity as well as growth in pigs.