• Radiation Oncology Journal
• /
• v.24 no.1
• /
• pp.30-36
• /
• 2006

Purpose: It is well known from clinical experience that acute complications of chemoradiation therapy vary from patients to patients. However, there are no known factors to predict these acute complications before treatment starts. The human XRCC1 gene is known as a DNA base excision repair gene. We investigated the possibilities of XRCC1 gene polymorphisms as a predictor for the acute complications of chemoradiation therapy in colorectal cancer patients. Materials and Methods: From July 1997 to June 2003, 86 colorectal cancer patients (71 rectal cancer, 13 sigmoid colon cancer and 2 colon cancer patients) were treated with chemoradiation therapy at the Department of Radiation Oncology, Inha University Hospital. Twenty-two patients were in stage B, 50 were in stage C, 8 were in stage D and 6 patients were unresectable cases. External radiation therapy was delivered with 10MV X-ray at a 1.8 Gy fraction per day for a total dose of radiation of $30.6{\sim}59.4 Gy$ (median: 54 Gy). All the patients received 5-FU based chemotherapy regimen. We analyzed the acute complications of upper and lower gastrointestinal tract based on the RTOG complication scale. The initial and lowest WBC and platelet count were recorded during both the RT period and the whole treatment period. Allelic variants of the XRCC1 gene at codons 194, 280 and 399 were analyzed in the lymphocyte DNA by performing PCR-RFLP. Statistical analyses were carried out with the SAS (version 6.12) statistical package. Results: When all the variables were assessed on the multivariate analysis, recurrent disease revealed the factors that significantly correlated with upper gastrointestinal acute complications. Arg399Gln polymorph isms of the XRCC1 gene, the radiation dose and the frequencies of chemotherapy during radiation therapy were significantly correlated with lower gastrointestinal complications. Arg399Gln polymorph isms also affected the decrease of the WBC and platelet count during radiation therapy. Conclusion: Although the present sample size was too small for fully evaluating this hypothesis, this study suggests that Arg399Gln polymorph isms of the XRCC1 genes may be used as one of the predictors for acute complications of chemoradiation therapy in colorectal cancer patients.

• Korean journal of applied entomology
• /
• v.60 no.4
• /
• pp.387-401
• /
• 2021

Thrips infesting hot peppers were monitored in greenhouses using yellow sticky traps. In addition, the hot peppers infected with tomato spotted wilt virus (TSWV) were observed during the monitoring period. The flower thrips (Frankliniella intonsa) were initially trapped at a low density just after transplanting seedlings of hot peppers at late March. The western flower thrips (Frankliniella occidentalis) were trapped after mid April. These two thrips represented more than 98% of the total thrips attracted to the traps after May, in which F. intonsa showed higher occurrence frequency than F. occidentalis. The total number of thrips had two peaks at mid May with a small and short-term peak and at June-July with a large and long-term peak. The trapped thrips exhibited inconsistent sex ratios, suggesting a seasonal parthenogenesis. Different geographical populations were varied in cytochrome oxidase I sequences, in which local populations in Andong shared a high sequence similarity. TSWV-infected hot peppers, which might be mediated by these two thrips species, were observed and confirmed by an immunoassay kit and a molecular diagnosis using RT-PCR. In addition, the TSWV was detected in F. occidentalis collected from the infected hot peppers. Three open reading frames (NS_S, N, and NS_M) of the isolated TSWV genomes were sequenced and showed multiple point mutations containing missense mutations among geographical variants. When the isolated TSWV was fed to nonvirulent thrips of F. occidentalis, the virus was detected in both larvae and adults. However, the viral replication occurred in larvae, but not in adults.

• Journal of Life Science
• /
• v.29 no.7
• /
• pp.800-808
• /
• 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 Life Science
• /
• v.29 no.1
• /
• pp.1-8
• /
• 2019

In Hanwoo cattle (Korean native cattle), there is a scarcity of comparative analysis papers using highdepth sequencing and haplotype phasing, particularly a comparative analysis of the Truseq Synthetic Long-Read Haplotyping sequencing platform serviced by Illumina (TSLRH) versus the Chromium Genome Sequencing platform serviced by 10X Genomics (10XG). DNA was extracted from the sperm of a Hanwoo breeding bull (ID: TN1505D2184/27214) provided by Hanwoo research canter and used for the generation of sequence data from both the sequencing platforms. We then identified SNVs using an appropriate analysis pipeline tailored for each platform. The TSLRH and 10XG platforms generated a total of 355,208,304 and 1,632,772,004 reads, respectively, corresponding to a Q30 (%) of 89.04% and 88.60%, respectively, of which 351,992,768(99.09%) and 1,526,641,824(93.50%) were successfully mapped. For the TSLRH and 10XG platforms, the mean depth of the sequencing was 13.04X and 74.3X, the longest phase block was 1,982,706 bp and 1,480,081 bp, the N50 phase block was 57,637 bp and 114,394 bp, the total number of SNVs identified was 4,534,989 and 8,496,813, and the total phased rate was 72.29% and 87.67%, respectively. Moreover, for each chromosome, we identified unique and common SNVs using both sequencing platforms. The number of SNVs was directly proportional to the length of the chromosome. Based on our results, we recommend the use of the 10XG platform for haplotype phasing and SNV identification, as it generated a longer N50 phase block, in addition to a higher mean depth, total number of reads, total number of SNVs, and phase rate, than the TSLRH platform.

• Korean Journal of Environment and Ecology
• /
• v.35 no.3
• /
• pp.223-236
• /
• 2021

This study aims to provide basic data for the systematic conservation and efficient management of forest ecosystems by analyzing changes in understory vegetation of temperate broad-leaved deciduous forests. One-hectare permanent survey plot, consisting of 100 subplots sized 10 × 10 meters, was installed in Gwangneung forest in Pocheon, Gyeonggi-do in 2003. The state of stands and the understory vegetation in the permanent survey plot were examined at a 5-year interval from 2003 to 2018. The vascular plants found in the survey area were 56 families, 128 genera, 176 species, 18 variants, 4 varieties, and 1 subspecies, for a total of 199 taxa. The number of species in both the shrub layer and the herbaceous layer showed a tendency to decrease with time. The MRPP-tests showed a significantly differing species composition of the shrub layer in all years except 2008-2013, whereas significant differences were found in all years concerning the herbaceous layer. As for the average importance value, Euonymus oxyphyllus (18.23%), Acer pseudosieboldianum (16.48%), and Callicarpa japonica (13.85%) were dominant in the shrub layer, while Ainsliaea acerifolia (23.41%), Disporum smilacinum (9.45%), and Oplismenus undulatifolius (5.62%) were dominant in the herbaceous layer. In the shrub layer, the richness of Smilax china, Lonicera subsessilis, and Philadelphus schrenkii was high when the basal area and the stand density of an upper layer were high. By contrast, smaller basal area and stand density were associated with the richness of Acer pseudosieboldianum, Deutzia glabrata, Morus bombycis, and Cornus kousa. Furthermore, it was found out that the impact of the basal area and the stand density on the herbaceous layer decreased over time, while the herb layer's species composition was greatly affected by cover degrees of Euonymus oxyphyllus and Acer pseudosieboldianum in the shrub layer. In conclusion, the number of species in the understory vegetation in Gwangneung forest is continuously decreasing, thus implying that species diversity, basal area, and stand density of an upper layer can influence the species composition in understory vegetation.

• Journal of Life Science
• /
• v.31 no.12
• /
• pp.1088-1093
• /
• 2021

Jeju horse (Equus ferus caballus) is a Korean horse breed that has been native to Jeju Island for a long time. Jeju horses are used as racehorses, and their racing ability is a major economic trait. The role of the myostatin (MSTN) gene in skeletal muscle mass has been studied in various mammals, and mutations in the MSTN gene are known to affect the racing ability and stamina of thoroughbreds. In this study, we compared the frequency of mutations in the MSTN gene in several horse breeds, including 1,433 Jeju horses. Among the mutations (ECA18 g.66493737C>T) in the MSTN gene, the long-distance aptitude genotype (TT) was found to have a frequency of 0.826 in Jeju horses, which was higher than that in Halla horses (0.285) and thoroughbreds (0.252). The genotypes and arrival records of Jeju horses were compared according to various distances (400 m, 800 m, 900 m, 1,000 m, 1,110 m, and 1,200 m). According to the results, the CT type showed a faster-reaching record than the TT type in races of less than 1,000 m. However, almost identical results were confirmed in races over 1,110 m. This study suggests that the MSTN mutation in Jeju horses may be related to race distance aptitude. In future research, the data in this study can be used for developing markers related to race distance aptitude and racing abilities in Jeju horses.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.21 no.1
• /
• pp.15-21
• /
• 2021

Purpose: Urea cycle disorder (UCD) is an inherited inborn error of metabolism, acting on each step of urea cycle that cause various phenotypes. The purpose of the study was to investigate the long-term clinical consequences in different groups of UCD to characterize it. Methods: Twenty-two patients with UCD genetically confirmed were enrolled at Pusan National University Children's hospital and reviewed clinical features, biochemical and genetic features retrospectively. Results: UCD diagnosed in the present study included ornithine transcarbamylase deficiency (OTCD) (n=10, 45.5%), argininosuccinate synthase 1 deficiency (ASSD) (n=6, 27.3%), carbamoyl-phosphate synthetase 1 deficiency (CPS1D) (n=3, 13.6%), hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS) (n=2, 9.1%), and arginase-1 deficiency (ARG1D) (n=1, 4.5%). The age at the diagnosis was 32.7±66.2 months old (range 0.1 to 228.0 months). Eight (36.4%) patients with UCD displayed short stature. Neurologic sequelae were observed in eleven (50%) patients with UCD. Molecular analysis identified 37 different mutation types (14 missense, 6 nonsense, 6 deletion, 6 splicing, 3 delins, 1 insertion, and 1 duplication) including 14 novel variants. Progressive growth impairment and poor neurological outcomes were associated with plasma isoleucine and leucine concentrations, respectively. Conclusion: Although combinations of treatments such as nutritional restriction of proteins and use of alternative pathways for discarding excessive nitrogen are extensively employed, the prognosis of UCD remains unsatisfactory. Prospective clinical trials are necessary to evaluate whether supplementation with BCAAs might improve growth or neurological outcomes and decrease metabolic crisis episodes in patients with UCD.

• Journal of Life Science
• /
• v.32 no.12
• /
• pp.929-937
• /
• 2022

To investigate the anti-inflammatory activity of the grains of sorghum, three Sorghum bicolor (L.) Moench variants (Hwanggeumchal, Huinchal, and Chal) being cultivated in Korea, the 80% ethanol (EtOH) extracts of individual sorghum grains were compared for their inhibitory activity against nitric oxide (NO) production in lipopolysaccharide (LPS)-stimulated RAW264.7 murine macrophage cell line. Among them, the EtOH extract of sorghum Hwanggeumchal grains could exert the highest inhibitory effect on the LPS-induced NO production. However, under these conditions, the viability of RAW264.7 cells was not affected. When the EtOH extract of sorghum Hwanggeumchal grains was sequentially fractionated with n-hexane, methylene chloride (MC), ethyl acetate (EtOAc), and n-butanol, the anti-NO production activity was predominantly detected in both MC and EtOAc fractions. In particular, treatment with the MC fraction reduced dose-dependently the expression levels of iNOS, COX-2 and pro-inflammatory cytokines (IL-1β, IL-6, and TNF-α) in LPS-stimulated RAW264.7 cells. Simultaneously, the MC fraction could prevent LPS-induced activating phosphorylation of p38 mitogen-activated protein kinase (MAPK), c-Jun N-terminal kinase (JNK) and extracellular signal-regulated kinase (ERK). HPLC analysis of the MC fraction showed gentisic acid and naringenin as the major phenolic components. Both gentisic acid and naringenin commonly exhibited a potent inhibitory activity against LPS-induced NO production in RAW264.7 cells. Together, these results provide the evidence of the inhibitory activity of Hwanggeumchal grains on LPS-induce inflammatory responses in RAW264.7 murine macrophage cells and also suggest that sorghum grains possess beneficial health effects which can be applicable in development of the grain-based functional foods.

• Journal of Environmental Impact Assessment
• /
• v.31 no.1
• /
• pp.11-46
• /
• 2022

This study was carried out to examine vascular plants and invasive alien plants in Gyodong Island, located at the northwestern Civilian Control Line (CCL) of Ganghwa-gun, Incheon, and to use them as basic data for systematic management of identified plants and establishing biodiversity conservation measures. The survey was conducted 13 times from April 2019 to August 2021. The vascularflora in Gyodong Island was identified as 109 families, 378 genera, 641 species, 15 subspecies, 49 variants, 8 forma, a total of 713 taxa. This was found to be about 15.36% of the total 4,641 taxa of vascular plants in Korea. The northern linage plants on the Korean Peninsula appearing in the Gyodong Island area were identified in 83 classification groups, including Red-based leaf edge (Carex erythrobasis H.Lev. & Vaniot). Korea endemic plants were identified as 16 taxa such as Seoul wild-ginger [Asarum heterotropoides var. seoulense (Nakai) Kitag.], and a total of 20 taxa of rare plants designated by IUCN were observed, including the endangered grade Beardless iris (Iris ruthenica Ker Gawl.). Floristic target species were classified with a total of 99 taxa. For V grade, Beardless iris 1 taxon was found. and also IV grade and III grade were identified in 8 taxa and 20 taxa respectively. The invasive alien plants identified as 75 taxa, such as Verbesina alternifolia (L.) Britton ex Kearney. The naturalization rate was 10.51%, and the urbanization index was calculated as 23.29%. Since large-scale construction has been currently underway on Hwagae Mt. in Gyodong Island as the target of survey area, the influx of invasive plants will be expected to promote. Therefore, it is urgent to establish in-situ protection and conservation measures for notable plants such as Beardless iris and Water smartweed [Persicaria amphibia (L.) S.F.Gray].

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.21 no.1
• /
• pp.7-14
• /
• 2021

Purpose: Pseudohypoparathyroidism (PHP) is caused by genetic and epigenetic alteration in the GNAS locus, and characterized by the resistance to multiple hormones and the Albright's hereditary osteodystrophy (AHO) phenotype. This study investigated the phenotypic characteristics and molecular features of PHP. Methods: Eight patients who diagnosed as PHP were enrolled at Pusan National University Children's hospital and clinical features, biochemical and genetic findings were retrospectively reviewed. Results: Of a total of 8 patients, 5 were diagnosed with PHP1a, and 3 were diagnosed with PHP1b. Patients with PHP1a had three different mutations in the GNAS gene, and patients with PHPIb had imprinting defect in differentially methylated regions (DMRs) of the GNAS locus. Two novel GNAS variants were identified in patients with PHP1a, including c.313-2A>T and c.1094G>A. All patients with PHP1a displayed AHO features; short stature (80%), brachydactyly (80%), a round face (80%), obesity (40%), heterotopic ossification (60%), and intellectual disability (60%), whereas only one patient (33.3%) with PHP1b showed AHO feature such as a round face. When phenotypic features between PHP1a and PHP1b patients were compared, patients with PHP1b showed a tendency of higher current height standard deviation scores (SDS) compared to patients with PHP1a, (-3.2±2.1 vs.-1.1±0.8; P=0.06) Conclusions: This study summarizes the phenotypic and genetic features of the PHP patients. Although we found considerable clinical overlap between PHP1a and PHP1b, further long-term follow-up is needed to evaluate the growth and development of children with PHP, as well as the effects of end-organ resistances to endocrine hormones.