• Annals of Clinical Neurophysiology
• /
• 제22권1호
• /
• pp.29-32
• /
• 2020

Sarcoglycanopathies are a rare group of autosomal recessive limb-girdle muscular dystrophies (LGMDs) caused by genetic variants in α-, β-, γ-, or δ-sarcoglycan that maintain membrane integrity and contribute to molecular signal processing. High-throughput nucleotide sequencing was performed in patients with slowly progressive proximal muscle weakness from early childhood with respiratory involvement, which detected a novel homozygous nonsense variant (c.601C>T;p.Gln201Ter) in SGCB. This report informs about the clinical characteristics of LGMD2E (type-2E LGMD) in Korea and provides genetic confirmation of the disease.

• Mycobiology
• /
• 제38권2호
• /
• pp.122-127
• /
• 2010

Different strains of mold were screened for the production of high quality Korean traditional rice wine with anti-hypertension and good acceptability. We isolated 867 nuruk mold strains and selected 24 for further study based on measurement of amylase activity. Among them, mold No. 17 showed high ethanol production upon fermentation with Saccharomyces cerevisiae as well as anti-hypertensive properties. The No. 17 strain was therefore selected as the functional mold and later identified as Rhizopus stolonifer based on molecular biological characteristics. Optimal fermentation conditions for the brewing of anti-hypertensive traditional rice wine comprised the addition of R. stolonifer No. 17 koji at a concentration of 35 sp/g and a fermentation period of 10 days at $25^{\circ}C$ using S. cerevisiae.

• 한국가금학회지
• /
• 제27권2호
• /
• pp.91-98
• /
• 2000

Phylogenetic tree constructed from the nucleotide sequences of the S1 gene showed that the 15 Korean strains of infectious bronchitis virus(IBV) examined were classified into 2 genetically distinct groups, except one respiratory strain, RB86, which was clustered with Massachusetts group. All the 5 respiratory strains belonged to Korean group I and the rest 9 nephropathogenic strains belonged to Korean group II according to the analysis, based on S1 gene sequences. Like previous classifications corresponded with the geographic origin, Korean stains were discriminated from geographically distinct reference strains of IBV. The nephropathogenic strains within Korean group IIsharing 96% homology were continuously isolated since 1990, and seemed to be genetically stable. Whereas the respiratory strains within Korean group Ⅰ sharing 88% homology were sporadically isolate since 1986m and seemed to be genetically unstable. Because we found putative accumulated point mutation as well as recombination events in Korean group Ⅰ, we discussed why genetic variations have often occurred in respiratory strains rather than nephropathognic strains.

• Korean Circulation Journal
• /
• 제53권10호
• /
• pp.693-707
• /
• 2023

Background and Objectives: Inherited arrhythmia (IA) is a more common cause of sudden cardiac death in Asian population, but little is known about the genetic background of Asian IA probands. We aimed to investigate the clinical characteristics and analyze the genetic underpinnings of IA in a Korean cohort. Methods: This study was conducted in a multicenter cohort of the Korean IA Registry from 2014 to 2017. Genetic testing was performed using a next-generation sequencing panel including 174 causative genes of cardiovascular disease. Results: Among the 265 IA probands, idiopathic ventricular fibrillation (IVF) and Brugada Syndrome (BrS) was the most prevalent diseases (96 and 95 cases respectively), followed by long QT syndrome (LQTS, n=54). Two-hundred-sixteen probands underwent genetic testing, and 69 probands (31.9%) were detected with genetic variant, with yield of pathogenic or likely pathogenic variant as 6.4%. Left ventricular ejection fraction was significantly lower in genotype positive probands (54.7±11.3 vs. 59.3±9.2%, p=0.005). IVF probands showed highest yield of positive genotype (54.0%), followed by LQTS (23.8%), and BrS (19.5%). Conclusions: There were significant differences in clinical characteristics and genetic yields among BrS, LQTS, and IVF. Genetic testing did not provide better yield for BrS and LQTS. On the other hand, in IVF, genetic testing using multiple gene panel might enable the molecular diagnosis of concealed genotype, which may alter future clinical diagnosis and management strategies.

• Mycobiology
• /
• 제42권1호
• /
• pp.73-78
• /
• 2014

Cryptococcal infection is primarily caused by two species, Cryptococcus neoformans and C. gattii. Between the two species, C. neoformans var. grubii is the major causative agent of cryptococcosis in Asia. We investigated the molecular characteristics of 46 isolates of C. neoformans from patients with cryptococcosis between 2008 and 2012 in Seoul, Korea. All the isolates were determined to be C. neoformans var. grubii (serotype A), mating type $MAT{\alpha}$, and molecular type VNI by PCR-restriction fragment length polymorphism of the URA5 gene. Multilocus sequencing type (MLST) analysis using the International Society of Human and Animal Mycoses (ISHAM) consensus MLST scheme identified two sequence types (ST). Out of the 46 strains, 44 (95.7%) were identified as ST5, and remaining 2 were identified as ST31. Our study revealed that the clinical strains of C. neoformans in Korea are genetically homogeneous with the VNI/ST5 genotypes, and new appearance of VNI/ST31 genotype may serve as an important indicator of global genetic analysis.

• BMB Reports
• /
• 제35권3호
• /
• pp.251-254
• /
• 2002

The genetic factors that contribute to the development of coronary artery disease (CAD) are poorly understood. It is likely that multiple genes that act independently or synergistically contribute to the development of CAD and the outcome. Recently, an insertion/deletion (I/D) polymorphism of the human angiotensin I-converting enzyme (ACE) gene, a major component of the renin-angiotensin system (RAS), was identified. The association of the ACE gene D allele with essential hypertension and CAD has been reported in the African-American, Chinese, and Japanese populations. However, other studies have failed to detect such an association. It has been suggested that these inconsistencies may be due to the difference in backgrounds of the population characteristics. In the present study, we investigated the I/D polymorphism of the ACE gene in 103 subjects of both sexes, consisting of 59 normal controls and 44 patients with hypertension. The allele and genotype frequency were significantly different between the hypertensive and control groups (p < 0.01). Among the three ACE I/D variants, the DD genotype was associated with the highest value of the mean systolic blood pressure [SBP] and mean diastolic blood pressure [DBP] (p = < 0.05) in men, but not in women. In the overall population, the mean SBP and DBP was highest in DD subjects, intermediate in I/D subjects, and the least in II subjects.

• 미술이론과 현장
• /
• 제15호
• /
• pp.137-165
• /
• 2013

The prefix 'bio' with the meaning of 'life,' has been used for biotechnology, biochemistry, bioengineering, biomedicine, bioethics, bio-information as well as 'bio art' since 1990s. Bio art is an art as life itself and a kind of new direction in contemporary art that manipulates the processes of life. Bio artists use the properties of life and materials as scientists in laboratory of biology, and change organisms within their own species, of invents life with new characteristics. Technologically and socio-culturally, bio art has been connected with bioengineering. This essay is on the bio art that use vegetables, and on the specified gaze of so-called 'Sci-Artists.' Not only the genetically modified vegetables like works of George Gessert, Ackroyd & Harvey, and Eduardo Kac, but also the works made from the critical viewpoint like those of Paul Vanouse, Natalie Jeremijenko, and Amy Youngs, have 'the molecular gaze'(Suzanne Anker and Dorothy Nelkin's concept) of the genetic age in their art works. As the art history have showed, artists' gazes have insights about social problems that surround us. Bioartists' gazes reveal their insights about social and ethical problems, possibly concealed by science itself. Those problems are about results from practical discoveries of the sequencing of the genome, genetic engineering, cloning and reproduction of human and animals, body transformation, and the commercialization of cell and genes etc. We can find the significance of bioart in the molecular gaze about those problems, and we can rethink the identity of human, the reception of social influences from bio-technology and medicine.

• 한국식물병리학회:학술대회논문집
• /
• 한국식물병리학회 2003년도 정기총회 및 추계학술발표회
• /
• pp.122-123
• /
• 2003

Apple stem grooving virus (ASGV) belongs to Capillovirus and infects pome fruits. Transmission mode of ASGV is known by grafting and mechanical inoculation into susceptible hosts, not by any other natural vectors. But we have observed the spread of ASGV in the field without mechanical inoculation or grafting. Transmission seems to be occurred from tree-to-tree and tree-to-susceptible herbaceous plants along but not across ditches in the field. In order to ascertain this possibility, various fungi were isolated and cultured from ASGV-infected plants and 69 isolates were characterized. By means of RNA dot-blot hybridization and PCR analysis, 3 isolates were sorted out for further studies. The isolates were identified to Tataromyces sp. and belonged to Phenicillium by morphological characteristics and molecular markers. As an experimental host, 10 kidney beans (Phaseolus vulgaris) were screened and Kyunggi-5 was selected for virus amplification and symptom development. Kyunggj-5 infected by fungi which seemed to carry ASGV showed the typical disease symptoms and viral coat protein genes were detected from all tested plants. To confirm the Koch's rule, fungi cultured from inoculation origins of kidney bean were grown on PDA media and re-inoculated to hosts. The fungi isolated from inoculation origins induced the typical disease symptoms on hosts. However virus free fungi did not induce any symptom on the experimental hosts. This bioassay showed that these typical symptoms were caused by virus, not fungi.

• International Journal of Industrial Entomology and Biomaterials
• /
• 제37권1호
• /
• pp.1-8
• /
• 2018

The nerippe fritillary butterfly, Argynnis nerippe, is listed as an endangered species in Korea. Establishment of effective conservation strategies can be aided by the development and application of molecular markers that can be used to investigate the population genetics of the butterfly. Therefore, in this study, we identified ten microsatellite markers specific to A. nerippe using the Next-Seq 500 platform, and applied these markers to investigate the characteristics of five South Korean butterfly populations. Genotyping of 48 A. nerippe individuals from five localities showed that at each locus the number of alleles ranged from 4 to 14, and that the observed and expected heterozygosities were 0.324-0.863 and 0.138-0.985, respectively. Significant deviation from the Hardy-Weinberg equilibrium was not observed at any locus. Population structure analysis indicated that there are two genetic groups in Korea, but no population-based gene pool assignments were found. Analysis of $F_{ST}$, $R_{ST}$, and a principal coordinates analysis suggested that the Gureopdo and Yaecheon populations were isolated from other populations. Genetic isolation of the Gureopdo population may be a consequence of unequal population change between Gureopdo and inland populations and to the offshore habitat of Gureopdo. Genetic isolation of the Yaecheon population may be a consequence either of the southernmost location of the population or of the limited sample size available. Further studies with increased sample sizes will be necessary to draw robust conclusions on population isolation and to devise conservation strategies.

• BMB Reports
• /
• 제44권11호
• /
• pp.719-724
• /
• 2011

The $Sec61{\alpha}$ subunit is the core subunit of the protein conducting channel which is required for protein translocation in eukaryotes and prokaryotes. In this study, we cloned a $Sec61{\alpha}$ subunit from Penicillium ochrochloron ($PoSec61{\alpha}$). Sequence and 3D structural model analysis showed that $PoSec61{\alpha}$ conserved the typical characteristics of eukaryotic and prokaryotic $Sec61{\alpha}$ subunit homologues. The pore ring known as the constriction point of the channel is formed by seven hydrophobic amino acids. Two methionine residues from transmembrane ${\alpha}$-helice 7 (TM7) contribute to the pore ring formation and projected notably to the pore area and narrowed the pore compared with the superposed residues at the corresponding positions in the crystal structures or the 3D models of the $Sec61{\alpha}$ subunit homologues in archaea or other eukaryotes, respectively. Results reported herein indicate that the pore ring residues differ among $Sec61{\alpha}$ subunit homologues and two hydrophobic residues in the TM7 contribute to the pore ring formation.