• Journal of Nutrition and Health
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• v.31 no.9
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• pp.1411-1421
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• 1998

The purpose of this study was to investigate the effects of apo E polymorphisms and dietary counseling on the levels of plasma lipids in hyperlipidemic patients. The changes of serum lipids were assessed f3r 34 hyperlipidemic out-patients who changed their basal diet containing 20.1% fat(236.0mg cholesterol/day), 15.7% protein, and 64.2% carbohydrate to a diet containing 18.3% fat(109.8mg cholesterol/day), 15.7% protein, and 66.0% carbohydrate for 12 weeks. At the beginning of this study, the levels of plasma LDL-cholesterol were high according to apo E genotypes in the following order : E2/3

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.15 no.2
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• pp.178-184
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• 2004

Objectives : This study was conducted to investigate the association of the COMT polymorphism with the TD in Korean sample of families with TD probands. The relationship between risk alleles and specific clinical features (tic severity, comorbidity, drug response) was also explored. Method : Patients were recruited from the Tic Disorder clinic at the Child & Adolescent Psychiatric Division of Seoul National University Hospital and assessed through 2 stage evaluation. Firstly, all the patients and parents received semistructured interview using Korean version of K-SADS-PL. Secondly all the patients received clinical interview and tic severity assessment with Korean version of YGTSS. The subjects in control group were recruited from the health promotion center in out hospital and were evaluated by SCL-90 and SCID-IV. Through these process, total of 42 children and adolescents with TD, their 84 parents and 86 control subjects were finally recruited. Genotyping for The Val158Met polymorphism of the COMT gene was done by standardized method. After collection of genetic data of all the patients, parents and control subjects, case-control comparison and tranmission dysequilibrium test was executed by SPSS version 11. Result : From the case-control comparison, the frequency of L-allele and LL genotype was significantly higher in TD group. However, no differences were found from the TDT. No significant differences were found in in family history of tic, ADHD, OCD, drug response and comorbid conditions among the three different genotypes in patients with TD. Conclusion : Though this study results should be interpreted cautiously due to small sample size and negative finding in TDT test, this study is the first report that there is positive association between the functional polymorphism of COMT gene the TD.

• Food Science of Animal Resources
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• v.24 no.4
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• pp.349-354
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• 2004

Stress-susceptible pigs have been known as the porcine stress syndrome (PSS), swine PSS, also known as malignant hyperthermia (MH), is characterized as sudden death and production of poor meat quality such as PSE (pale, soft and exudative) meat after slaughtering. PSS and PSE meat cause major economic losses in the pig industry. A point mutation in the gene coding for the ryanodine receptor (RYR1) in porcine skeletal muscle, also known calcium (Ca$^{2+}$) release channel, has been associated with swine PSS and halothane sensitivity. We used the PCR-RFLP(restriction fragment length polymorphism) and PCR-SSCP (single strand conformation polymorphism) methods to detect the PSS gene mutation (C1843T) in the RYR1 gene and to estimate genotype frequencies of PSS gene in Korean pig breed populations. In PCR-RFLP and SSCP analyses, three genotypes of homozygous normal (N/M), heterozygous carrier (N/n) and homozygous recessive mutant (n/n) were detected using agarose or polyacrylamide gel electrophoresis, respectively. The proportions of normal, carrier and PSS pigs were 57.1, 35.7 and 7.1％ for Landrace, 82.5, 15.8 and 1.7％ far L. Yorkshire, 95.2, 4.8 and 0.0％ for Duroc and 72.0, 22.7 and 5.3％ for Crossbreed. Consequently, DNA-based diagnosis for the identification of stress-susceptible pigs of PSS and pigs producing PSE meat is a powerful technique. Especially, PCR-SSCP method may be useful as a rapid, sensitive and inexpensive test for the large-scale screening of PSS genotypes and pigs with PSE meat in the pork industry.y.

• Korean Journal of Microbiology
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• v.50 no.4
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• pp.285-295
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• 2014

This study was conducted to survey the epidemiological characteristics and the isolated strains for pathogenic E. coli which was the major causative organisms for food poisoning occurred at school food services in the Gyeonggi-do area during the past three years. We investigated 19 accidents of food-borne disease outbreaks by pathogenic E. coli at school food services from 2010 to 2012. Food-borne disease outbreaks by pathogenic E. coli were usually occurred at direct management type (18 accidents, 95%) and high schools. For the seasonal factors, 13 accidents (65%) were occurred in June to September, especially the end of August and September after the summer holidays. The first patients were occurred on Wednesday (7 accidents, 37%) and Thursday (7 accidents, 37%), and they were mainly reported on Thursday (7 accidents, 37%) and Friday (5 accidents, 26%). The exposure of risk was estimated in Monday (4 accidents, 21%), Tuesday (7 accidents, 37%) and Wednesday (4 accidents, 21%), and kimchi (5 accidents, 50%) was estimated as the food of the high risk responsible for the outbreaks. 98 isolates of pathogenic E. coli consisted of PEC (50%), ETEC (34%), EAEC (15%), and EHEC (1%). The antibiotic resistance of pathogenic E. coli showed in the descending order of ampicilline (40%), nalidixic acid (37%), trimethoprim/sulfamethoxazole (24%), and tetracycline (19%). The antibiotics of second and third generation cephalosporins, cabarpenem, aminoglycosides, and second generation quinolones had antimicrobial susceptibilities and cefalotin, ampicillin/sulbactam and chloramphenicol showed medium resistance at 29%, 25%, and 6% respectively, and 70% of isolates were resistant to more than one antibiotic. By the PFGE analysis, they were classified into nine major groups and 31 profiles with 57% pattern similarity. It was very difficult to find the correlation of antimicrobial susceptibilities and genotype in the small scale-food poisoning, but the similarity of antimicrobial resistance and PFGE patterns in the large scale-food poisoning enabled the outbreaks to estimate the same pathotype of E. coli derived from identical origins.

• Journal of Genetic Medicine
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• v.4 no.1
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• pp.72-79
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• 2007

Purpose : Glycogen storage disease type III (GSD-III) is a rare autosomal recessive disorder of glycogen metabolism. The affected enzyme, amylo-1,6-glucosidase, 4-alpha-glucanotransferase (AGL, glycogen debranching enzyme), is responsible for the debranching of the glycogen molecule during catabolism. The disease shows clinical and biochemical heterogeneity, reflecting genotype-phenotype heterogeneity among different patients. In this study, we aim at analyzing mutations of the AGL gene in three unrelated Korean GSD-III patients, and characterizing their clinical and laboratory findings. Methods : We characterized the clinical features of three unrelated Korean GSD-III patients by biochemical, histological and imaging studies. The 35 exons and part of exon-intron boundaries of AGL were analyzed by direct sequencing using genomic DNA extracted from the peripheral leukocytes of patients. Results : Diverse clinical features were observed in these patients including hepatomegaly (all patients), seizures (patient 2), grow th failure (patients 1 and 2), hyperlipidemia (patients 1 and 3), raised transaminase and creatine kinase concentrations (all patients), and mild cardiomyopathy (patient 2). Liver transplantation w as performed in patient 2 due to progressive hepatic fibrosis. A dministration of uncooked corn starch maintained normoglycemia and improved biochemical and growth profiles. DNA sequence analysis revealed mutations in 5 out of 6 alleles. Patient 1 was a compound heterozygote of c.1282 G>A (p.R428K) and c.1306delA (p.S603PfsX6), patient 2 had c.1510_1511insT (p.Y 504L fsX 10), and patient 3 had c.3416 T >C (p.L 1139P) and c.1735+1 G>T (p.Y 538_R578delfsX 4) mutations. A part from the p.R428K mutation, the 4 other substitutions identified w ere nov el. Conclusion : GSD-III patients display variable phenotypic characteristics resembling those of GSD-Ia. Molecular defects in the AGL gene of Korean GSD-III patients are genetically heterogeneous.

• Journal of Life Science
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• v.29 no.7
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• pp.800-808
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• 2019

Charcot-Marie-Tooth disease (CMT) is a group of rare peripheral neuropathies characterized by progressive muscle weakness and atrophy and areflexia in the upper and lower extremities. The most common subtype of CMT is CMT1A, which is caused by a tandem duplication of the PMP22 gene in the 17p12 region. Patients with CMT1A show a loose genotype-phenotype correlation, which suggests the existence of secondary genetic or association factors. Recently, polymorphisms of rs71428439 (n.83A>G) and rs2292832 (n.86T>C) in the MIR149 have been reported to be associated with late onset and mild phenotypic CMT1A severity. The aim of this study was to examine the intrafamilial heterogeneities of clinical phenotypes according to the genotypes of these two SNPs in MIR149. For this study, we selected 6 large CMT1A families who showed a wide range of phenotypic variation. This study suggested that both SNPs were related to the onset age and severity in the dominant model. In particular, the AG+GG (n.83A>G) and TC+CC genotypes (n.86T>C) were associated to late onset and mild symptoms. Motor nerve conduction velocity (MNCV) was not related to the MIR149 genotypes. These results were consistent with the previous studies. Therefore, we suggest that the rs71428439 and rs2292832 variants in MIR149 may serve as genetic modifiers of CMT1A intrafamilial phenotypic heterogeneity, as they have a role in the unrelated patients. This is the first study to show an association using large families with variable clinical CMT1A phenotypes. The results will be helpful in the molecular diagnosis and treatment of patients with CMT1A.

• Journal of Plant Biotechnology
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• v.49 no.3
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• pp.240-249
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• 2022

Measuring chlorophyll fluorescence (CF) is a useful tool for assessing a plant's ability to tolerate abiotic stresses such as drought, waterlogging and high temperature. Korean ginseng is highly sensitive to water stress in paddy fields. To evaluate the possibility of non-destructively diagnosing waterlogging stress using chlorophyll fluorescence (CF) imaging techniques, we screened 57 ginseng accessions for waterlogging tolerance. To evaluate waterlogging tolerance among the 2-year-old Korean ginseng accessions, we treated ginseng plants with water stress for 25 days. The physiological disorder rate was characterized through visual assessment (an assigned score of 0-5). The physiological disorder rates of Geumjin, Geumsun and GS00-58 were lower than that of other accessions. In contrast, lines GS97-62, GS97-69 and GS98-1-5 were deemed susceptible. Root traits, chlorophyll content and the reduction rates decreased in most ginseng accessions. Further, these metrics were significantly lower in susceptible genotypes compared to resistant ones. All CF parameters showed a positive or negative response to waterlogging stress, and this response continuously increased over the treatment time among the genotypes. The CF parameter Fv/Fm was used to screen the 57 accessions, and the results showed clear differences in Fv/Fm between the susceptible and resistant genotypes. Susceptible genotypes had an especially low Fv/Fm value of less than 0.8, reflecting damage to the reaction center of photosystem II. It is concluded that Fv/Fm can be used as a CF parameter index for screening waterlogging stress tolerance in ginseng genotypes.

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

• KOREAN JOURNAL OF CROP SCIENCE
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• v.3
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• pp.89-98
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• 1965

The experimental studies were intended to clarify the effects of selection, and also aimed at estimating the heritabilities, the genotypic correlations among some agronomic characters, and at calculating the selection index on some selective characters for the selection of desirable lines, under different climatic conditions. Finally practical implications of these studies, especially on the selection index, were discussed. Twenty-two varieties, determinate growing habit type, were selected at random from the 138 soybean varieties cultivated the year before, were grown in a randomized block design with three replicates at Chinju, Korea, under May and June sowing conditions. The method of estimating heritabilities for the eleven agronomic characters-flowering date, maturity date, stem length, branch numbers per plant, stem diameter, plant weight, pod numbers per plant, grain numbers per plant and 100 grain weight, shown in Table 3, was the variance components procedures in a replicated trial for the varieties. The analysis of covariance was used to obtain the genotypic correlations and phenotypic correlations among the eight characters, and the selection indexes for some agronomic characters were calculated by Robinson's method. The results are summarized as follows: Heritabilities : The experiment on the genotype-environment interaction revealed that in almost all of the characters investigated the interaction was too large to be neglected and materially affected the estimates of various genotypic parameters. The variation in heritability due to the change of environments was larger in the characters of low heritability than in those of high heritability. Heritability values of flowering date, fruiting period (days from flowering to maturity), stem length and 100 grain weight were the highest in both environments, those of yield(grain weight) and other characters were showed the lower values(Table 3). These heritability values showed a decreasing trend with the delayed sowing in the experiments. Further, all calculated heritability values were higher than anticipated. This was expected since these values, which were the broad sense heritability, contain the variance due to dominance and epistasisf in addition to the additive genetic variance. Genotypic correlations : Genotypic correlations were slightly higher than the corresponding phenotypic correlations in both environments, but the variation in values due to the change of environment appeared between grain weight and some other characters, especially an increase between grain weight and flowering date, and the total growing period(Table 6). Genotypic correlations between grain weight and other characters indicated that high seed yield was genetically correlated with late flowering, late maturity, and the other five characters namely branch numbers per plant, stem diameter, plant weight, pod numbers per plant and grain numbers per plant, but not with 100 grain weight of soybeans. Pod numbers and grain numbers per plant were more closely correlated with seed yields than with other characters. Selection index : For the comparison and the use of selection indexes in the selection, two kinds of selection indexes were calculated, the former was called selection index A and the later selection index B as shown in Table 7. Selection index A was calculated by the values of grain weight per plant as the character of yield(character Y), but the other, selection index B, was calculated by the values of pod numbers per plant, instead of grain weight per plant, as the character of yield'(character Y'). These results suggest that selection index technique is useful in soybean breeding. In reality, however, as the selection index varies with population and environment, it must be calculated in each population to which selection is applied and in each environment in which the population is located. In spite of the expected usefulness of selection index technique in soybean breeding, unsolved problems such as the expense, time and labor involved in calculating the selection index remain. For these reasons and from these experimental studies, it was recognized that in the breeding of self-fertilized soybean plants the selection for yield should be based on a more simple selection index such as selection index B of these experiments rather than on the complex selection index such as selection index A. Furthermore, it was realized that the selection index for the selection should be calculated on the basis of the data of some 3-4 agronomic characters-maturity date(X$_1$), branch numbers per plant(X$_2$), stem diameter(X$_3$) and pod numbers per plant etc. It must be noted that it should be successful in selection to select for maturity date(X$_1$) which has high heritability, and the selection index should be calculated easily on the basis of the data of branch numbers per plant(X$_2$), stem diameter(X$_3$) and pod numbers per plant, directly after the harvest before drying and threshing. These characters should be very useful agronomic characters in the selection of Korean soybeans, determinate growing habit type, as they could be measured or counted easily thus saving time and expense in the duration from harvest to drying and threshing, and are affected more in soybean yields than the other agronomic characters.