• The korean journal of orthodontics
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• v.33 no.3 s.98
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• pp.185-197
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• 2003

This study was performed to identify the characteristics of the OFC1 gene (locus: chromosome 6p24.3) in Korean patients, which is assumed to be the major gene behind the nonsyndromic cleft lip and palate. The sample consisted of 80 subjects: 40 nonsyndromic cleft lip and palate patients (proband, 20 males and females, mean age 14.2 years); and 40 normal adults (20 males and 20 females, mean age 25.6 years). Using PCR-based assay, the OFC1 gene was amplified, sequenced, and then searched for similar protein structures. Results were as follows: 1. The OFC1 gene contains the microsatellite marker 'CA' repeats. The number of the reference 'CA' repeats was 21 times, and formed as TA(CA)11TA(CA)10. But, in Koreans, the number of tandem 'CA' repeats was varied from 17 to 26 except 18, and 'CA' repeats consisted of TA(CA)n. 2. Nine allelic variants were found. Distribution of the OFC1 allele was similar between the patients and control group. 3. There was a replacement of the base 'T' to 'C' after 11 tandem 'CA' repeats in Koreans compared with Weissenbach's report. However, the difference did not seem to be the ORF prediction results between Koreans and Weissenbach's report. 4. The BLAST search results showed the Telomerase reverse transcriptase (TERT) and the Nucleotide binding protein 2 (NBP2) as similar proteins. The TERT was a protein product by the hTERT gene in the locus 5p15.33 (NCBI Genome Annotation; NT023089) The NBP2 was a protein product by the ABCC3 (ATP-binding cassette, sub-family C) gene in the locus 17q22 (NCBI Genome Annotation; NT010783). 5. In the Pedant-Pro database analysis, the predictable protein structure of the OFC1 gene had at least one transmembrane region and one non-globular region.

• Clinical and Experimental Pediatrics
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• v.46 no.10
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• pp.996-1002
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• 2003

Purpose : In Rett syndrome patients, the incidence of sudden death is greater than that of the general population, and cardiac electrical instability including fatal cardiac arrhythmia is a main suspected cause. In this study, we are going to find out the possible cause of the higher risk of sudden death in Rett patients by the evaluation of heart rate variability, a marker of cardiac autonomic activity and corrected QT intervals. Methods : Diagnosis of Rett syndrome was made by molecular genetic study of Rett syndrome (MECP2 gene) or clinical diagnostic criteria of Rett syndrome. Heart rate variability and corrected QT intervals were measured by 24 h-Holter study in 12 Rett patients, and in 30 age-matched healthy children with chief complaints of chest pain or suspected heart murmurs. The were compared with the normal age-matched control. Results : Patients with total Rett syndrome, classic Rett syndrome, and Rett variants had significantly lower heart rate variability(especially rMSSD)(P<0.05) and longer corrected QT intervals than age-matched healthy children(P<0.05). Sympathovagal balance expressed by the ratio of high to low frequency(LF/HF ratio) also showed statistically significant differences between the three groups considered(P<0.05). Conclusion : A significant reduction of heart rate variability, a marker of autonomic disarray, suggests a possible explanation of cardiac dysfunction in sudden death associated with Rett syndrome.

• Current Research on Agriculture and Life Sciences
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• v.31 no.1
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• pp.45-50
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• 2013

Mutagenesis is used to study gene function and obtain new genetic resources for plant breeding. Soybean is an important oil crop in the world. Thus, to find new genetic resources, a mutation population was developed from the soybean cultivar Pungsannamul using 0.3% ethyl methane sulfonate. The variation of fatty acids was then evaluated among 892 M4 generation mutant lines selected from 3,774 mutant lines. While the wild type Pungsannamul showed 11.6, 3.4, 23.8, 53.3, and 7.8% for palmitic, stearic, oleic, linoleic and linolenic acid, respectively. the fatty acid variations in the mutant lines ranged from 7.4 to 19.7%, 2.2 to 13.0%, 14.7 to 49.0%, 31.8 to 63.9%, and 3.9 to 15.9% with an average of 10.8, 3.8, 25.3, 52.0, and 8.1% for palmitic, stearic, oleic, linoleic and linolenic acid, respectively. Thus, two mutation lines with higher plamitic acid, PE1542 (17.1%) and PE3058 (17.0%), one line with lower stearic acid, PE2166 (1.9%), one line with higher stearic acid, PE977 (12.7%), two lines with higher oleic acid, PE450 (44.4%) and PE2742 (47.7%), and two lines with lower linolenic acid, PE594 (4.6%) and PE1690 (3.7%), were selected from this study. The newly selected fatty acid variants will be good genetic sources for gene function analyses and breeding soybean varieties with altered fatty acids for various industrial and human food applications.

• Journal of Chest Surgery
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• v.36 no.1
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• pp.15-20
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• 2003

Myasthenia gravis is a rare autoimmune disease involving acetylcholine receptor and its autoantibody on neuromuscular junction. The methods of treatment are medical treatment and surgical thymectomy. In this paper we analyzed the result of thymectomy and the factors affecting the postoperative symptom improvement. Material and method : This study obtained medical records of 37 patients who received the thymectomy for myasthenia gravis from March 1986 to December 1998. Result Out of 37 cases, 21 cases(57%) showed improvement, of which 8 cases (50%) in the group of thymoma(n=16), and 13 cases (62%) in the group of thymic hyperplasia(n=21) showed the improvement of symptoms. Postoperative complications were respiratory insufficiency due to aggravation of symptoms after operation, including tracheal intubation for ventilator support in 9 cases, pneumonia in 3 cases, pneumothorax in 2 cases and left vocal cord palsy in 1 case. There was one postoperative mortality. The relation between postoperative improvement and sex(P=0.3222), age(P=0.7642), thymic pathologic variants,(P=0.4335) and classification of thymoma(P=0.20) showed no statistically significant correlation. However, the lower grade of preoperative symptoms can predict the lower grade of postoperative symptoms significantly(P=0.0032). Follow up study to 36 postoperative survivors was performed in October 2002 based on the out-patient records and call with patients. Out of 36 cases, 33 cases(91.7%) could be investigated and 3 cases could not. Mean follow up period was 83.2 months. Out of 33 cases, 25 cases(75.8%) showed symptomatic improvement, of which 8 cases(53.3%) in the group of thymoma(n=15) and 17 cases(94.4%) in the group of thymic hyperplasia(n=18) showed the improvement of$\boxUl$ symptoms. Conclusion : In myasthenia gravis, thymectomy showed the good improvement, and more important factor affecting the improvement of symptoms was the grdae of preoperative symptoms. Also midterm and long term follow up results showed good symptomatic improvement.

• Journal of Animal Science and Technology
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• v.46 no.6
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• pp.947-956
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• 2004

The primary role of lipoprotein lipase(LPL) is the hydrolysis of triglycerides(TG) from the core of triglyceride-rich lipoproteins such as chylomicrons and very low density lipoproteins in plasma. Fatty acids liberated by LPL on capillary endothelial surfaces are available for tissues as energy sources especially in muscles or for storage in the form of TG in adipose tissues. Therefore, as the candidate gene related to the carcass traits of the beef cattle, we have directly sequenced the exon 5${\sim}$exon 6 region in the bovine LPL gene for discovery of single nucleotide polymorphism(SNP) with 24 unrelated Hanwoo(Korean cattle). Novel eight sequence variants were detected: three loci on exon 5, three on intron 5 and two on exon 6. All SNPs identified were strongly linked each other, and one hundred twenty eight Hanwoo samples were genotyped one SNP on intron 5 using PCR-restriction fragment length polymorphism method by digestion with Hae III restriction enzyme. The allele frequency of the polymorphism was 0.76 and 0.24. The effects of this polymorphism on the breeding values of the carcass weight, loin muscle area, back fat thickness and marbling score were analyzed using least square methods of SAS GLM. The marbling score of BB genotype was significantly higher than those of AA and AB genotypes(P<0.05). This result indicates that this polymorphism may be associated with the variation of marbling score. Further study is warranted to investigate the phenotypic association in Hanwoo.

• Journal of Life Science
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• v.27 no.11
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• pp.1369-1375
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• 2017

The purpose of this study was to investigate the cellular characterization of phospholipase C-${\delta}1$ in olive flounders (Paralichthys olivaceus). In general, phospholipase C signaling pathways are distributed in nuclei at plasma membranes and in cytoplasms, although the pathways' nuclear localization mechanisms are unclear. P. olivaceus duplicates type-A PoPLC-${\delta}1$ (PoPLC-${\delta}1A$), which has a high similarity to the human isoform PLC-${\delta}$; type-B PoPLC-${\delta}1$ (PoPLC-${\delta}1B$ [Sf]), which has a low similarity to the human isoform PLC-${\delta}$ and the alternative splice variant PoPLC-${\delta}1B$ (Lf), which has a nuclear localization signal (NLS) and a nuclear export signal (NES) for nuclear imports and exports, respectively. This study confirmed the effects of the cellular localization and translocation of GFP-tagged PoPLC-${\delta}1A$, PoPLC-${\delta}1B$ (Sf) and PoPLC-${\delta}1B$ (Lf). It administered treatments of $Ca^{2+}$ ionophore ionomycin and endoplasmic reticulum (ER)-$Ca^{2+}$ pump inhibitor thapsigargin to hirame natural-embryo (HINAE) cells. A laser-scanning confocal microscope was used. GFP-tagged PoPLC-${\delta}1A$ was distributed to the cellular organelles, rather than to the cytoplasms and cytomembranes, when PoPLC-${\delta}1B$ (Lf) and PoPLC-${\delta}1B$ (Sf) were localized at the plasma membranes. The treatments of ionomycin and thapsigargin showed the accumulation of PoPLC-${\delta}1A$ in the nuclei when PoPLC-${\delta}1B$ (Lf) nucleocytoplasmic shuttling and PoPLC-${\delta}1B$ (Sf) nucleocytoplasmic shuttling were not observed. The results were the first evidence that PoPLC-${\delta}1A$, which contains functional, intact NES sequences, has a main role in nucleocytoplasmic shuttling and translocation in fish.

• Sleep Medicine and Psychophysiology
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• v.20 no.2
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• pp.63-68
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• 2013

Objectives: Several evidence has been suggested that the circadian gene variants contribute to the pathogenesis of seasonal affective disorder. In this study, we aimed to investigate the polymorphism in RORA (Retinoid-related orphan receptor A) gene in relation to seasonal variations among healthy young adults in Seoul, Korea. Methods: A total of 507 young healthy adult subjects were recruited by advertisement. Seasonal variations were assessed by the Seasonality Pattern Assessment Questionnaire (SPAQ). Single-nucleotide polymorphism in the RORA rs11071547 gene was genotyped by PCR in 507 individuals. Considering summer type as confounding factor, we conducted analysis 478 subjects except 29 subjects of summer type. The Chi-square test was conducted to compare differences between groups of seasonals and non-seasonals. Association between genotypes and Global Seasonality Score (GSS) were tested using ANCOVA (Analysis of covariance). Results: In this sample, the prevalence of SAD was 12.1% (winter type 9.3%, summer type 2.8%). There is no significant difference in genotyping distribution of RORA rs11071547 between groups of seasonals and non-seasonals. Global seasonality score (GSS) and scores of all subscales except body weight and appetite were not significantly different between the group with C allele homozygote and the group with T allele homozygote and heterozygote (p-value 0.138). Scores of body weight and appetite were significantly higher in group with C allele homozygotes. Conclusion: These results suggest that RORA gene polymorphism play a role in seasonal variations in appetite and body weight and is associated with susceptibility to seasonal affective disorder in some degree in the population studied.

• Tuberculosis and Respiratory Diseases
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• v.58 no.1
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• pp.54-58
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• 2005

Background : To evaluate the role of estrogen and progesterone in the carcinogenesis of NSCLC, IHC studies for the expression of the receptors of estrogen and progesterone have been performed with inconsistent results. Recently the TMA method has been developed and has become recognized as a useful and rapid method for extensively analysing molecular markers at the gene and protein level. We have investigated their expressions in the tissue from NSCLC using the microarray method. Methods : The TMA construction was made with 70 formalinfixed, paraffin-embedded tissues of NSCLC. After heat-induced epitope retrieval, IHC staining on primary tissues of NSCLC was performed with the monoclonal antibodies, ER1D5 and PR1A6. Results : Our sample of 70 consisted of 74% men and 26% women. Of the patients, 49% were current smokers, 27% were non-smokers and 24% were former smokers. By histologic classification, 34 patients had squamous cell carcinoma, 24 had adenocarcinoma, 9 had adenosquamous cell carcinoma, and 3 had other carcinomas. No cancer cells were immunostained with these monoclonal antibodies in any primary tissues of NSCLC. Conclusions : No expression of neither of the two receptors was found in any of the lung cancer tissues. This suggests that adequate genetic variants for IHC staining need to be developed for NSCLC.

• Korean Journal of Environment and Ecology
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• v.29 no.4
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• pp.570-579
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• 2015

Lindera sericea, which belongs to genus Lindera in the Lauraceae family, is labeled under Least Concerned (LC) among Korean rare plants, floristics specific species IV grade and also flagpole species of the Mudeung National Park. It is distributed in Mt. Mudeung, Mt. Cheonbong and Mt. Chogye within gradients from $12^{\circ}$ to $51^{\circ}$. The slope area is from northeast to northwest sides and the altitude range of distribution site is between 220 m and 533 m. The vascular plants in the quadrate where Lindera sericea were studied were identified as a total of 72 taxa; 37 families, 54 genera, 66 species, 5 variants and 1 forma. Among the floristics specific species, IV grade species was Lindera sericea and III grade species were Stewartia pseudocamellia and Acer palmatum. Korean endemic species were Stewartia pseudocamellia and Carex okamotoi. As for the vegetation group, Quercus mongolica and Q. serratak - Lindera sericea, Styrax japonicus populations were found in Mt. Mudeung area where Lindera sericea appeared, Stewartia pseudocamellia-Lindera sericea and Sasa borealis populations were found in Mt. Cheonbong areas, Carpinus laxiflora - Lindera sericea and Sasa borealis populations were found in Mt. Chogye area, and Stewartia pseudocamellia-Lindera sericea and Sasa borealis populations were found in Songgwangsa area. A total number of 662 Lindera sericea individuals were examined. The number of trees with 1 trunk including younger individuals was 353 (53.32%), and the number of trees with 2 to 5 stems was 270 (40.79%). The number of trees with the greatest number of sprouts was 27. Of 662 trees in total, the total number of sprouts was 1,198. Among these, 699 trees (58.34%) were between 50 cm and 150 cm in height. The tallest tree was 585 cm. The most common root-collar diameter of sprouts (992, 82.81%) was under 1 cm, followed by the sprouts with collar diameter from 1.0 to 1.5 cm(156, 13.2%). Among them, the largest root-collar diameter was 3.2 cm. This Lindera sericea specimen had the tallest trunk (565 cm) which was torn lengthwise on one side. Its root and breast parts were decayed by 50% and 25 respectively. Some branches of the three trunks that were more than 4 m in length were dead in the apical portion. Therefore, it is proposed that the Korean Lindera sericea maintains an apical dominance tree type while showing morphological adaptation as a typical shrub because it autonomously decays some branches and trunks over a certain height while increasing the number of its sprouts.

• Journal of Life Science
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• v.20 no.3
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• pp.365-373
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• 2010

To monitor newly emerged influenza virus variants and to investigate the prevalence pattern, our laboratory performed isolation of the viruses from surveillance sentinel hospitals. In the present study, we analysed influenza A/H1N1, A/H3N2, B viruses isolated in Busan during the 2006/07 and 2007/08 seasons by sequence analysis of the hemagglutinin (HA1 subunit) and neuraminidase (NA) genes. The isolates studied here were selected by the stratified random sample method from a total of 277 isolates, in which 15 were A/H1N1, 16 were A/H3N2 and 29 were B. Based on the phylogenetic tree, the HA1 gene showed that A/H1N1 isolates had a 96.7% to 97.7% homology with the A/Brisbane/59/2007, A/H3N2 isolates had a 98.4% to 99.7% homology with the A/Brisbane/10/2007, and B isolates had a 96.5% to 99.7% homology with the B/Florida/4/2006(Yamagata lineage), which are all the vaccine strains for the Northern Hemisphere in 2008~2009 season. In the case of the NA gene, A/H1N1 isolates had 97.8% to 98.5% homologies, A/H3N2 isolates had 98.9% to 99.4% homologies, and B isolates had 98.9% to 100% homologies with each vaccine strain in the 2008~2009 season, respectively. Characterization of the hemagglutinin gene revealed that amino acids at the receptor-binding site and N-linked glycosylation site were highly conserved. These results provide useful information for the control of influenza viruses in Busan and for a better understanding of vaccine strain selection.