• Tuberculosis and Respiratory Diseases
• /
• v.40 no.6
• /
• pp.653-658
• /
• 1993

Background: Recent advancement of molecular genetics has revealed that malignant transformation of a cell may be a complex multistep process and this process is grouped, in general, into two distinct categories, activation of protooncogenes and inactivation of tumor suppressor genes. This study was focused on the mutation of p53 tumor suppressor gene, because p53 gene mutation is now generally accepted to be one of the most frequent genetic changes in a variety of human cancers. Although lung cancer is one of the common cancers in Korea, the genetic change in the carcinogenesis process is not yet known clearly. To investigate the role of p53 gene mutation in lung cancer, we examined the mutations of exon 4-8 of the p53 gene in humna lung cancer cell lines, because most of the mutations of p53 gene have been reported to develop in exon 4-8. Method: Genomic DNA was obtained by the digestion of proteinase K and the extraction by phenol-chloroform-ethanol method from two human pulmonary adenocarcinoma cell lines, PC-9 and PC-14, and one human small cell lung cancer cell line, H69. To detect the mutations of exon 4-8 of the p53 gene, polymerase chain reaction single-strand conformation polymorphism(PCR-SSCP) analysis was performed with the DNA extracted from the cells. Results: The mutation of p53 gene was present in all three cell lines tested. In PC-9, PC-14 and H69, the altered mobility was detected in exon 7, 7 and 5, respectively. Conclusion: These results suggest that p53 gene mutation plays an important role in certain steps of the carcinogenesis of human non-small cell and small cell lung cancer.

• Tuberculosis and Respiratory Diseases
• /
• v.58 no.4
• /
• pp.367-374
• /
• 2005

Background : The fact that only 10-20% of chronic cigarette smokers develop chronic obstructive pulmonary disease (COPD) reflects the presence of genetic factors associated with the susceptibility to COPD. Recently, it was reported that the surfactant protein A increases the secretion of matrix metalloprotease 9, which degrades extracellular matrices of the lung, through a Toll-like receptor 2 (TLR2). In this context, possible role of TLR2 in the pathogenesis of COPD was postulated, and a functional dinucleotide repeat polymorphism in intron II of TLR2 was evaluated for any association with COPD. Method : Male patients with COPD and male smokers with a normal pulmonary function were enrolled in this study. The number of Guanine-Thymine repeats in intron II of the TLR2 gene were counted. Because the distributions of the repeats were trimodal, the alleles were classified into three subclasses, 12-16 repeats: short (S) alleles; 17-22 repeats: medium length (M) alleles; and 23-27 repeats: long (L) alleles. Result : 125 male patients with COPD and 144 age- and gender-matched blood donors with a normal lung function were enrolled. There were no differences in the distribution of each allele subclass (S, M and L) between the COPD and control group (p=0.75). The frequencies of the genotypes with and without each allele subclass in the COPD and control group were similar. Conclusion : A microsatellite polymorphism in intron II of TLR2 gene was not associated with the development of COPD in Koreans.

• Tuberculosis and Respiratory Diseases
• /
• v.54 no.5
• /
• pp.485-494
• /
• 2003

Background : Most previous studies regarding the role of GSTMl and GSTT1 on lung cancer risk have been focused mainly on male smokers. However, epidemiological characteristics, histologic types and risk factors are different in female and male lung cancers, we investigated the association between these genotypes and lung cancer risk in males and females separately. Materials and Methods : The study population consisted of 253 lung cancer (153 males and 100 females) and 243 controls (140 males and 103 females). GSTM1 and GSTT1 genotypes were determined by a multiplex PCR. Results : In the male population, neither GSTM1 nor GSTT1 null genotype showed significant difference between cases and controls. In the female population, the frequencies of GSTM1 null genotype showed no significant difference between cases and controls. However, the frequencies of GSTT1 null genotype was significantly higher in cases (70.3%) than controls (55.3%, odds ratio (OR)=2.18; 95% confidence interval (CI=l.21-3.93). When the female population was stratified by age and smoking status, the ORs for GSTT1 null genotype were significantly higher in subgroups of ${\leq}60$ years (OR=4.82; 95% CI=l.61-14.4) and never-smokers (OR=4.29; 95% CI=1.94-9.48) but not in subgroups of >60 years or smokers. When stratifying the female never-smokers by age, the ORs for GSTT1 null genotype were significantly higher in both age groups of ${\leq}60$ years (OR=7.64; 95% CI=2.00-29.2) and >60 years (OR=2.89; 95% CI=1.05-7.94). Conclusion : We found that GSTT1 null genotype was associated with an increased risk of lung cancer in Korean female never-smokers. This result suggests that GSTT1 null genotype could be used as a biomarker for genetic susceptibility to lung cancer in Korean female never-smokers.

• KOREAN JOURNAL OF CROP SCIENCE
• /
• v.64 no.4
• /
• pp.299-310
• /
• 2019

The eating quality of rice is one of the main concerns of rice breeding programs in many countries, especially in japonica rice cultivation areas. To select new resources with high eating quality from Korean native japonica rice, we evaluated a total of 76 varieties, including 47 native rice resources (26 landraces + 21 weedy rice) of Korea. In this study, all eating quality traits varied widely among the native resources, and some of the native resources revealed a high evaluation score in the palatability, expected eating quality, and physicochemical traits among the tested whole-plant materials. From the results, we selected two landraces (Sangdo and Waebyeo) and three weedy rice varieties (Hoengseongaengmi3, Namjejuaengmi6, and Wandoaengmi6) as promising resources for improvement of rice eating quality. Specifically, Wandoaengmi6 presented potential as a key breeding material for improving the eating quality of Korean rice cultivars, having the best evaluation results in palatability score (PS 0.83) from the sensory test and glossiness value (GV 81.8) from the Toyo taste meter of cooked rice. Given the urgent need to overcome the constraint of the narrow genetic background of Korean japonica rice, the results could be a practical solution for exploring new opportunities for improving rice eating quality through the expansion of genetic resources.

• Journal of Life Science
• /
• v.23 no.11
• /
• pp.1325-1335
• /
• 2013

Working dogs, such as rescue dogs, military watch dogs, guide dogs, and search dogs, are selected by in-training examination of desired traits, including concentration, possessiveness, and boldness. In recent years, genetic information has been considered to be an important factor for the outstanding abilities of working dogs. To characterize the molecular features of the canine genes related to phenotypes for working dogs, we investigated the 24 previously reported genes (AR, BDNF, DAT, DBH, DGCR2, DRD4, MAOA, MAOB, SLC6A4, TH, TPH2, IFT88, KCNA3, TBR2, TRKB, ACE, GNB1, MSTN, PLCL1, SLC25A22, WFIKKN2, APOE, GRIN2B, and PIK3CG) that were categorized to personality, olfactory sense, and athletic/learning ability. We analyzed the chromosomal location, gene-gene interactions, Gene Ontology, and expression patterns of these genes using bioinformatic tools. In addition, variable numbers of tandem repeat (VNTR) or microsatellite (MS) polymorphism in the AR, MAOA, MAOB, TH, DAT, DBH, and DRD4 genes were reviewed. Taken together, we suggest that the genetic background of the canine genes associated with various working dog behaviors and skill performance attributes could be used for proper selection of superior working dogs.

• Korean Journal of Breeding Science
• /
• v.50 no.4
• /
• pp.415-423
• /
• 2018

Rice panicle architecture is an important factor affecting yield potential. Korean rice cultivars have a narrow genetic background for panicle architecture. To enhance the yield potential of Korean rice cultivars, we developed and characterized rice lines with new panicle architecture. Rice with improved panicle architecture has clustered spikelets and dense panicles (CD type). CD rice was derived from a cross between "Binhae Col.#1" carrying dense panicles, and "ARC10319" that has the clustered spikelets gene (Cl). CD rice lines had short and semi-erect panicles with two to five high density spikelets clustered at the tips of primary and secondary rachis branches. CD rice lines had dramatically increased numbers of spikelets; almost twice as many as those of Korean rice cultivars. The increase in spikelet number was mainly caused by the increased spikelets and branches on secondary rachises compared to those on primary rachises. The increase in spikelet number was expected to enhance the yield of CD rice by expanding sink capacity. However, the yield of selected lines; CD9, CD27, CD34, and CD39, did not reach the level of the Korean high-yielding cultivars "Boramchan" and "Hanareum2," due to the reduction in panicle number and grain weight, and poor ripening. Although no substantial yield increase was observed in CD rice, the panicle architecture of CD rice, clustered spikelets, and dense panicles could be new genetic resources as breeding material for diversifying panicle architecture and enhancing yield potential.

• Journal of Korean Society of Forest Science
• /
• v.100 no.3
• /
• pp.522-534
• /
• 2011

The aim of this study is to draw forth the tasks for establishing the right of native biology in Korea through the case study on 'Access on genetic resources and Benefit Sharing'. For this purpose, this study decided on its research subject by selecting Hoodia, on which ABS treaty was made the most recently, through the examination of the representative ABS precedents on plant species. This study analyzed the process background of ABS on Hoodia, and compared & analyzed the ABS procedures of 'Bonn Guidelines' adopted by the 6th Conference of the Parties of the Convention on Biological Diversity in 2002 and Hoodia case. Together with the ABS major issues in common drawn as a result of this analysis, and "Nagoya Protocol" adopted by the 10th Conference of the Parties of the Convention on Biological Diversity, this study intended to shed a light on the impending tasks which Korea faces at present and its role relationship. The research results are as follows: 1. It is required that species habitats should be divided based on biological classification and its subsequent community should be established with the development of infrastructure such as a community's independent production, management and monitoring of bio-species. 2. There needs to be a designation of ABS National Focal Point for sharing of ABS-related general information, boosting of implementation of the relevant convention. 3. There needs to be the establishment of ABS convention system consequent on legislative, administrative, political procedures, and designation of the Competent National Authorities for the provision of the format of Prior Informed Consent (PIC) and Mutually Agreed Terms (MAT) and their contents assessment and confirmation. 4. There should be the establishment of integrated management system of ABS-related research and development of forest biological resources and its relevant research projects. 5. There should be information development through the distribution of responsibility and role between the ministries and offices concerned according to bio-resources, and there needs to be efforts in aiming for opening a working group of academic-industrial institutions for developing a mutually interchangeable system. 6. It's required that the efficient access between industrial circles and the people should be promoted by setting up ABS support center of biological resources in ministry and office's charge. 7. There should be a selection of a national supervisory organization for securement of the right of a local community and monitoring of ABS convention implementation, and a countermeasure system for preventing outflow of forest bioresources. Conclusively, it's judged that it will be possible to inquire into the countermeasures for the establishment of the native forest biology dominion through such research results.

• Tuberculosis and Respiratory Diseases
• /
• v.45 no.1
• /
• pp.77-89
• /
• 1998

Background: Genetic and environmental factors are known to affect the incidence and severity of asthma. Stimulation of $\beta_2$-Adrenergic Receptor ($\beta_2$AR) results in smooth muscle relaxation, leading to decrease in resistance of airflow. The gene encoding the $\beta_2$AR has recently been seguenced. The $\beta_2$AR genotype at the polymorphic loci of codons 16, 27, 34, and 164 was known to cause changes in the amino acids. The relationships between the structure of the $\beta_2$AR and its functions are being elucidated. Purpose : The gene encoding the $\beta_2$AR was carried out to assess the frequency of polymorphisms in bronchial asthma, to determine wheather these polymorphisms have any relation to the severity, or nocturnal symptoms in bronchial asthma. Methods: The subjects studied were 103 patients with bronchial asthma, which consisted of 30 mild episodic, 32 mild persistent, 17 moderate, and 24 severe asthma patients. The polymorphisms of the $\beta_2$AR gene were detected by mutated allele specific amplification (MASA) method at the codons 16,27,34, and 164. Results: The most frequent polymorphism was arginine 16 to glycine. The other two polymorphisms, valine 34 to methionine and glutamine 27 to glutamic acid occured in 11 and 6 patients respectively. The polymorphism of threonine 164 to isoleucine was not found in our enrolled patients. The homozygous polymorphism of $\beta_2$AR gene was found in only arginine 16 to glycine (12.6%). The heterozygous polymorphisms of $\beta_2$AR gene were in arginine 16 to glycine, valine 34 to methionine, and glutamine 27 to glutamic acid, as 65.1 %,10.7%, and 5.8% respectively in asthma patients. The presence of agrginine 16 to glycine heterozygous or/and homozygous polymorphism was associated in severe asthma (p=0.015), but there was no association between the other three polymorphisms and the severity of asthma. The frequency of the $\beta_2$AR gene polymorphisms was no relation in nocturnal asthma as compared with non-nocturnal asthma. Conclusion: The arginine 16 to glycine polymorphism of the $\beta_2$AR gene is the most frequently found in asthma patients and association with severe asthma. But there was no association between the polymorphism of the $\beta_2$AR gene and nocturnal asthma.

• Journal of Chest Surgery
• /
• v.38 no.12 s.257
• /
• pp.835-843
• /
• 2005

Background: Cancer of the esophagus is one of the most malignant tumors with poor prognosis. The p53 gene alteration, over expression of Cyclin D1, and Ki67 index were thought to be the prognostic factors. However, their clinical significances in esophageal squamous cell carcinoma are controversial and p53 accumulation may not correlate with genetic mutation. The current study investigates their prognostic significance in squamous cell carcinoma of the esophagus. Material and Method: The Subjects studied were 124 esophageal squamous cell carcinoma patients who underwent esophagectomy. The mutation of p53, over expression of Cyclin D1, Ki67 labelling index, mitotic index were examined by using an immunohistochemical staining. We compared the results and investigated the correlation with the mutation of p53, overexpression of Cyclin D1, Ki67 labelling index, mitotic index and tumor size, and duration of survival. Result: There was no correlation between the results in immunohistochemical staining according to age, sex, tumor size, Iymph node status, and clinical stage of the disease. Mutant p53 protein was found in 69 cases (55.6$\%$). Median survival time was 21 months in cases with negative for mutant p53 protein and 22 months in positive cases. There was no significant difference in survival (p=0.46). Median survival time was 22 months in cases with negative for Cyclin D1 and 16 months in positive cases (p=0.18). Median and mean survival time was 22 months and 36 months when Ki67 labeling index was 40 or less (102 cases). Median and mean survival was 16 months and 23 months, when Ki67 labeling index was more than 40 (22 cases). There was significant difference in survival rate (p=0.011). Conciusion: Positivity of p53 and cyclin D1 was not useful in predicting the prognosis in our study. There was no significant correlation among mutant p53 protein accumulation, Cyclin D1 over expression, and Ki67 labeling index. However, in several studies, PCR single strand conformational polymorphism analysis of p53 showed a correlation to the prognosis. We thought that there was a significant discordance between p53 gene mutation and mutant p53 protein accumulation. When Ki67 labeling index was more than 40, prognosis was poorer, Ki67 seems to be a prognostic factor in our study. Therefore, we confirmed the possibility of using molecular markers as prognostic factors.

• The korean journal of orthodontics
• /
• v.34 no.3 s.104
• /
• pp.261-267
• /
• 2004

Nonsyndromic cleft lip and/or palate (NSCLP) is one of the most common congenital deformities and its prevalence in Far East Asia, such as within Korean and Japanese populations, is relatively high. However, in the eastern part of Europe, clefts are relatively rare situations. These ethnic differences infer a genetic background of the disease. The objective of this study was to compare the frequency of single nucleotide polymorphism (SNP) in $TGF-{\beta}3$ between Korean and Romanian cleft families. Korean cleft families samples were collected from twenty-six families (n=78) and Romanian cleft families samples were collected from eighteen families (n=41). For sequencing, the blood or saliva of the subjects was sampled. A single nucleotide polymorphism was observed in the intron 5 of $TGF-{\beta}3$ (Al8141G). The frequency of each allele was significantly different between the Korean and Romanian samples. The Ah allele was present in 18 out of 78 Korean samples (23.1%) and in 27 out of 41 Romanian samples (65.9%). The AG was present in 27 (34.6%) out of 78 Koreans and in 13 (31.7%) out of 41 Romanians. The GG was found in 33 (42.3%) Koreans and in 1 (2.4%) Romanian. The difference between the groups was significant (p<0.001). In conclusion, the frequency of observed SNP was significantly different between the two countries. SNP in $TGF-{\beta}3$ in the Korean population seemed to have a higher possibility of occurrence for nonsyndromic cleft palate than the Romanian population.