• Journal of Genetic Medicine
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• v.19 no.1
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• pp.7-13
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• 2022

Purpose: Preimplantation genetic testing for monogenic disorders (PGT-M) has been successfully used to prevent couples with monogenic disorders from passing them on to their child. Charcot-Marie-Tooth Disease (CMT) is a genetic disorder characterized by progressive extremity muscle degeneration and loss of sensory function. For the first time in Korea, we report our experience of applying single nucleotide polymorphism genotyping and karyomapping for PGT-M of CMT disease. Materials and Methods: Prior to clinical PGT-M, preclinical tests were performed using genotypes of affected families to identify informative single-nucleotide polymorphisms associated with mutant alleles. We performed five cycles of in vitro fertilization PGT-M in four couples with CMT1A, CMT2A, and CMT2S in CHA Fertility Center, Seoul Station. Results: From July 2020 through August 2021, five cycles of PGT-M with karyomapping in four cases with CMT1 and CMT2 were analyzed retrospectively. A total of 17 blastocysts were biopsied and 15 embryos were successfully diagnosed (88.2%). Ten out of 15 embryos were diagnosed as unaffected (66.7%). Five cycles of PGT-M resulted in four transfer cycles, in which four embryos were transferred. Three clinical pregnancies were achieved (75%) and the prenatal diagnosis by amniocentesis for all three women confirmed PGT-M of karyomapping. One woman delivered a healthy baby uneventfully and two pregnancies are currently ongoing. Conclusion: This is the first report in Korea on the application of karyomapping in PGT-M for CMT patients. This study shows that karyomapping is an efficient, reliable and accurate diagnostic method for PGT-M in various types of CMT diseases.

• Asian-Australasian Journal of Animal Sciences
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• v.23 no.7
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• pp.863-866
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• 2010

Myostatin, which is also known as growth and differentiation factor 8 (GDF8), has been reported to act as a negative regulator of skeletal muscle development. Variation in the myostatin gene (MSTN) has been associated with variation in muscularity in certain "meaty" sheep breeds. Polymerase Chain Reaction-Single Strand Conformational Polymorphism (PCR-SSCP) analysis was used to investigate allelic variation in the previously described g+6223G>A single-nucleotide polymorphism (SNP) in the 3' untranslated region (3' UTR) of MSTN. The sheep studied were 79 New Zealand (NZ) Romney lambs derived from a single sire heterozyous for g+6223G>A, which is in itself notable as this polymorphism has not been described previously in this breed. Allelic variation was observed to be associated with an abnormal gender ratio (p = 0.046) in the progeny. The presence of allele A was observed to have an effect (p<0.05) on birth weight, mean loin yield, proportion yield loin and total muscle yield. Allelic variation did not significantly affect mean shoulder yield, leg yield, proportion yield shoulder and proportion yield leg. This preliminary result suggests that while the A allele at MSTN g+6223 appears to improve some valuable traits in NZ Romney sheep, further research is required to understand if and how it may affect other traits.

• ALGAE
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• v.25 no.4
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• pp.187-195
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• 2010

The genus Rosenvingea is well known in the tropics. Four species have been reported from Pacific Mexico: R. floridana, R. antillarum, R. intricata and R. sanctae-crucis. We collected a plant (Boca del Cielo, Chiapas) that we identified as Rosenvingea orientalis, a species not previously reported from Pacific Mexico. We were able to characterize the life cycle of this species for the first time in laboratory culture. It reproduced exclusively by plurilocular sporangia (plurangia). The mature plants were up to 6 cm long with cylindrical to compressed fronds (to 2 mm wide) with dichotomous branches in the upper half of the thallus. The medulla was hollow with 2-3 layers of large inflated colourless cells at the periphery. The cortex was comprised of 1 layer of small cells, each with a single chloroplast and pyrenoid. Linear plurangial sori with phaeophycean hairs formed along the mature fronds. Zoospore germlings developed into prostrate filamentous systems, each with a single phaeophycean hair that gave rise to a single erect shoot with multiple hairs arising near the tip. Molecular phylogeny using the psaA gene placed this isolate within the Scytosiphonaceae. It does not confirm the exact identification of R. orientalis, although its placement close to other Rosenvingea sequences was confirmed and morphological evidence supports its placement in R. orientalis. Our culture investigations indicated that it has an asexual life cycle. Further collections are needed to resolve the full generic and specific relationships of Rosenvingea and related taxa, and their reproductive patterns.

• Asian-Australasian Journal of Animal Sciences
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• v.31 no.3
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• pp.309-315
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• 2018

Objective: This study aimed to test the expression patterns of ERBB receptor feedback inhibitor 1 (ERRFI1) before and after exercise and the association of non-synonymous single-nucleotide polymorphisms (nsSNPs) of horse ERRFI1 with racing traits in Thoroughbreds. Methods: We performed bioinformatics and gene expression analyses for horse ERRFI1. Transcription factor (TF) binding sites in the 5'-regulatory region of this gene were identified through a tool for prediction of TF-binding site (PROMO). A general linear model was used to detect the association between the nsSNP (LOC42830758 A to G) and race performance. Results: Quantitative polymerase chain reaction analysis showed that expression level of ERRFI1 after exercise was 1.6 times higher than that before exercise. Ten transcription factors were predicted from the ERRFI1 regulatory region. A novel nsSNP (LOC42830758 A to G) was found in ERRFI1, which was associated with three racing traits including average prize money, average racing index, and 3-year-old starts percentile ranking. Conclusion: Our analysis will be helpful as a basis for studying genes and SNPs that affect race performance in racehorses.

• The Journal of Korea Institute of Information, Electronics, and Communication Technology
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• v.7 no.1
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• pp.26-35
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• 2014

This research aims to identify relationships between stress level of parents in single parent families and life satisfaction in accordance with methods of getting rid of stress. Subject of the research were 260 parents in single parent families, centering on small towns in midsection sphere based on answers to questionnaire executed from March 1, 2013 to July 31, 2013. Collected data were analyzed by executing frequency analysis, factor analysis, t-test, one-way ANOVA, correlation analysis, regression analysis, etc. and an empirical verification was performed at 5% of significance level. From the result of the research, stress level appeared according to factors in a sequence of economic power, physical strength, social relation, family, mentality, etc. and significant influence to life satisfaction was found depending on factors such as stress removing methods and controlling effect. And minor factors were shown in a sequence of finance, emotion and acknowledgement. Suggestive points of the research are thought to be significance of stress removing method to the enhancement of life satisfaction, which will be a good material for the establishment of fundamental supporting plans and development of programs for single parent families.

• Proceedings of the Plant Resources Society of Korea Conference
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• 2018.04a
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• pp.37-37
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• 2018

The genus Crepidiastrum (Asteraceae), containing ca. 20 species, is mainly distributed in Asia. Crepidiastrum denticulatum, an edible plant that commonly call "e-go-deulppae-gi" in Korean, distributes in Korea, Japan, and China. The complete chloroplast (cp) genome sequences of C. denticulatum was characterized from MiSeq2000 (Illumina Co.) pair-end sequencing data. The cp genome of C. denticulatum has a total sequence length of 152,689 bp and show a typical quadripartite structure. It consists of the large single copy (LSC: 84,022 bp), small single copy (SSC: 18,519 bp), separated by a pair of inverted repeats (IRs: 25,074 bp) and contains 110 unique genes and 18 genes duplicated in the IR regions. Our comparative analysis identified three cpDNA regions (matK, rbcL, and psbA-trnH) from three Crepidiastrum species, which may be useful for molecular identification of each species, and providing a guideline for its clear confirming about dried medical herb.

• Proceedings of the Plant Resources Society of Korea Conference
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• 2018.04a
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• pp.38-38
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• 2018

The genus Carduus (Asteraceae), containing ca. 90 species, is mainly distributed in Eurasia and Africa. Carduus species are one of the most hazardous invasive species, which causes serious environmental threats and biodiversity damages in North America. Thus, the member of Carduus are targeted for classical biological control in this region. Here, we provide the complete cp genome of Carduus crispus using next-generation sequencing technology. The size of cp genomes of C. crispus is 152,342 bp. It shows a typical quadripartite structure, consisting of the large single copy (LSC; 83,254 bp), small single copy (SSC; 18,706 bp), separated by a pair of inverted repeats (IRs; 25,191 bp). It contains 115 unique genes of which 21 genes duplicated in the IR regions. The cpSSR regions of Carduus species were searched through the complete chloroplast genome sequence using a tandem repeat search tool in Geneious with the parameters set to ${\geq}7$ mononucleotide repeats, ${\geq}4$ di- and trinucleotide repeats, and ${\geq}3$ tetra-, penta-, and hexanucleotide repeats. A total of 22 repeat motifs were identified, which may be useful for molecular identification of Korean Carduus species (C. cripus), and providing a guideline for its conservation.

• Korean Journal of Social Welfare Studies
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• v.49 no.4
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• pp.159-193
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• 2018

This study aims to examine life experiences of single mothers according to three types of single parent families, divorced, widowed and unmarried and how they cope with their difficulties to become self-reliant and to identify strengths promoting self-reliance. The researchers analyzed personal, environmental and life factors by using the strengths perspective and discovered distinctive features of three types of single mothers that promote self-reliance. Data were collected by in-depth interviews with 20 single mothers, 4 widows, 8 divorced mothers and 8 unmarried single mothers. The results show that participants defined their experiences of self-reliance as a process to increase capability to accomplish their responsibilities as a mother, rather than as a completed goal. Increasing capability not only means achieving economic self-sufficiency, but also gaining psychosocial strengths that are developed by embracing one's own life, having sense of control and empowerment. This study identified commonalities and differences of strengths and resources and unique experiences of participants and proposed implications for policy and practice related to the roles of service delivery and support system.

• Journal of Families and Better Life
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• v.32 no.2
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• pp.131-141
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• 2014

This study attempted to achieve an understanding of how ever-single women in their 40s and 50s deconstructed and restructured on marriage and family. For this aim, this study adopted a qualitative method. The participants were 13 single women in their 40s and 50s who had never been married. In-depth individual interviews were carried out, focusing on ever-single women's views about marriage and family. The result of theme analysis indicated that the participants considered marriage as an unfavorable lifestyle for women. The participants could be split into two types based on their perspectives on marriage. The first type had a universal concept of marriage. In other words, they believed that when they growup, they should be married women. The other type had a negative concept of marriage because of their parents'unhappy marriage. Despite their view of marriage, all of the participants recognized marriage as a patriarchal structure. Also, they had a strong sense of responsibility to their original families. They had a broad definition of family, so they considered their parents, siblings, and siblings' family members as their family. In addition, they interacted with their families, especially their mothers, who did not have control over their lives but supported them and showed interest in their lives. Like this, the participants maintained their views of married life and family without changing after their single status and had close relationships with their family members.

• The Plant Pathology Journal
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• v.33 no.5
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• pp.478-487
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• 2017

Soybean is the most important legume crop in the world. Several diseases in soybean lead to serious yield losses in major soybean-producing countries. Moreover, soybean can be infected by diverse viruses. Recently, we carried out a large-scale screening to identify viruses infecting soybean using available soybean transcriptome data. Of the screened transcriptomes, a soybean transcriptome for soybean seed development analysis contains several virus-associated sequences. In this study, we identified five viruses, including soybean mosaic virus (SMV), infecting soybean by de novo transcriptome assembly followed by blast search. We assembled a nearly complete consensus genome sequence of SMV China using transcriptome data. Based on phylogenetic analysis, the consensus genome sequence of SMV China was closely related to SMV isolates from South Korea. We examined single nucleotide variations (SNVs) for SMVs in the soybean seed transcriptome revealing 780 SNVs, which were evenly distributed on the SMV genome. Four SNVs, C-U, U-C, A-G, and G-A, were frequently identified. This result demonstrated the quasispecies variation of the SMV genome. Taken together, this study carried out bioinformatics analyses to identify viruses using soybean transcriptome data. In addition, we demonstrated the application of soybean transcriptome data for virus genome assembly and SNV analysis.