• 대한본초학회지
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• 제28권5호
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• pp.1-6
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• 2013

Objectives : This study was conducted to identify the original Sinomini Caulis et Rhizoma plant among Stephania tetrandra, Cocculus trilobus, and Aristolochiae fangchi to develop the genetic marker for Sinomini Caulis et Rhizoma. Methods : Sinomenium acutum was identified by the classification and identification committee of the National Center for Standardization of Herbal Medicines. The chloroplast ndhF gene was amplified. We performed sequences alignment analysis of Sinomenium acutum, Stephania tetrandra, C. trilobus, and A. fangchi using BioEdit program. The SFR markers designed were consisted of SF01, SR04, and SR05 primers. Results : Many variations of Sinomeni Caulis et Rhizoma are currently commercialized as herbal medicine. We compared the base sequences of the ndhF intergenic space of chloroplast DNA with Sinomenium acutum, Stephania tetrandra, C. trilobus, and A. fangchi. According to the results, it showed that the nucleotide variations were seen in 30 genes of four species. Phylogenetic analysis revealed that 4 species were classified into five groups based on an inter-group divergence in nucleotide sequence of 9%. We developed SFR marker nucleotides enough to authenticate respective species and confirmed its application on the band size at 419 base pair. These sequence differences at corresponding positions were available genetic markers to identity the Sinomeni Caulis et Rhizoma. Conclusions : Base on these results, the ndhF region was effective in distinguishing Sinomini Caulis et Rhizoma The SFR genetic marker was useful for identifying Sinomini Caulis et Rhizoma with other species.

• 한국발생생물학회지:발생과생식
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• 제22권2호
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• pp.193-198
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• 2018

The author undertook PCR-founded genetic platform to investigate the hierarchical dendrogram of Euclidean genetic distances of one razor clam population, particularly for Solen corneus, which was further associated with those of the other clam population, by engaging with the precisely designed oligonucleotide primer sets. Seven oligonucleotides primers were used producing a total of 639 counted bands in population A and 595 in population B, respectively, ranging in size of DNA fragments from larger than approximately 50 bp to less than 1,100 bp. Their primers generated 39 specific fragments (6.10%) in population A and 47 (7.90%) in population B, respectively Comparatively, individuals of one razor clam population were fairly related to that of the other clam population, as shown in the hierarchical dendrogram of Euclidean genetic distances. The analysis of genetic variation between razor clam populations could offer important statistics for fisheries and mariculture. Generally the results showed specific and/or conserved genetic loci between razor clam populations. Specific markers established by the author will be valuable for the genetic analysis, species protection and increase of razor clam individuals in coastal region of the Korean Peninsula.

• Clinical Nutrition Research
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• 제12권1호
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• pp.40-53
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• 2023

Differential bitterness perception associated with genetic polymorphism in the bitter taste receptor gene taste 2 receptor member 38 (TAS2R38) may influence an individual's food preferences, nutrition consumption, and eventually chronic nutrition-related disorders including cardiovascular disease. Therefore, the effect of genetic variations on nutritional intake and clinical markers needs to be elaborated for health and disease prevention. In this study, we conducted sex-stratified analysis to examine the association between genetic variant TAS2R38 rs10246939 A > G with daily nutritional intake, blood pressure, and lipid parameters in Korean adults (males = 1,311 and females = 2,191). We used the data from the Multi Rural Communities Cohort, Korean Genome and Epidemiology Study. Findings suggested that the genetic variant TAS2R38 rs10246939 was associated with dietary intake of micronutrients including calcium (adjusted p = 0.007), phosphorous (adjusted p = 0.016), potassium (adjusted p = 0.022), vitamin C (adjusted p = 0.009), and vitamin E (adjusted p = 0.005) in females. However, this genetic variant did not influence blood glucose, lipid profile parameters, and other blood pressure markers. These may suggest that this genetic variation is associated with nutritional intake, but its clinical effect was not found. More studies are needed to explore whether TAS2R38 genotype may be a potential predictive marker for the risk of metabolic diseases via modulation of dietary intake.

• Asian-Australasian Journal of Animal Sciences
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• 제32권12호
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• pp.1809-1815
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• 2019

Objective: Copy number variations (CNVs) are a major source of genetic diversity complementary to single nucleotide polymorphism (SNP) in animals. The aim of the study was to perform a comprehensive genomic analysis of CNVs based on high density whole-genome SNP markers in Chinese Dongxiang spotted pigs. Methods: We used customized Affymetrix Axiom Pig1.4M array plates containing 1.4 million SNPs and the PennCNV algorithm to identify porcine CNVs on autosomes in Chinese Dongxiang spotted pigs. Then, the next generation sequence data was used to confirm the detected CNVs. Next, functional analysis was performed for gene contents in copy number variation regions (CNVRs). In addition, we compared the identified CNVRs with those reported ones and quantitative trait loci (QTL) in the pig QTL database. Results: We identified 871 putative CNVs belonging to 2,221 CNVRs on 17 autosomes. We further discarded CNVRs that were detected only in one individual, leaving us 166 CNVRs in total. The 166 CNVRs ranged from 2.89 kb to 617.53 kb with a mean value of 93.65 kb and a genome coverage of 15.55 Mb, corresponding to 0.58% of the pig genome. A total of 119 (71.69%) of the identified CNVRs were confirmed by next generation sequence data. Moreover, functional annotation showed that these CNVRs are involved in a variety of molecular functions. More than half (56.63%) of the CNVRs (n = 94) have been reported in previous studies, while 72 CNVRs are reported for the first time. In addition, 162 (97.59%) CNVRs were found to overlap with 2,765 previously reported QTLs affecting 378 phenotypic traits. Conclusion: The findings improve the catalog of pig CNVs and provide insights and novel molecular markers for further genetic analyses of Chinese indigenous pigs.

• Annals of Clinical Neurophysiology
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• 제23권1호
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• pp.53-55
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• 2021

Congenital myasthenic syndromes (CMSs) are rare genetic disorders characterized by weakness and fatigue resulting from impaired neuromuscular transmission. Genetic testing can confirm the diagnosis for some types of CMS; however, variations in genotype, clinical phenotypes, age at disease onset, and responses to treatment make diagnosis very difficult. Here we present two adult patients who had significant decremental responses in repetitive nerve stimulation testing and multi-minicore pathology, and who responded to treatment with a cholinesterase inhibitor.

• 한국발생생물학회지:발생과생식
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• 제16권4호
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• pp.315-320
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• 2012

The gDNA isolated from Cyclina sinensis from Gochang (GOCHANG), Incheon (INCHEON) and a Chinese site (CHINESE), were amplified by PCR. Here, the seven oligonucleotide decamer primers (BION-66, BION-68, BION-72, BION-73, BION-74, BION-76, and BION-80) were used to generate the unique shared loci to each population and shared loci by the three cyclina clam populations. As regards multiple comparisons of average bandsharing value results, cyclina clam population from Chinese (0.763) exhibited higher bandsharing values than did clam from Incheon (0.681). In this study, the dendrogram obtained by the seven decamer primers indicates three genetic clusters: cluster 1 (GOCHANG 01~GOCHANG 07), cluster 2 (INCHEON 08~INCHEON 14), cluster 3 (CHINESE 15~CHINESE 21). The shortest genetic distance that displayed significant molecular differences was between individuals 15 and 17 from the Chinese cyclina clam (0.049), while the longest genetic distance among the twenty-one cyclina clams that displayed significant molecular differences was between individuals GOCHANG no. 03 and INCHEON no. 12 (0.575). Individuals of Incheon cyclina clam population was somewhat closely related to that of Chinese cyclina clam population. In conclusion, our PCR analysis revealed a significant genetic distance among the three cyclina clam populations.

• Animal Systematics, Evolution and Diversity
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• 제32권2호
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• pp.105-111
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• 2016

The genetic structure of marine animals that inhabit the seashore is affected by numerous factors. Of these, gene flow and natural selection during recruitment have strong influences on the genetic structure of seashore-dwelling species that have larval periods. Relative contributions of these two factors to the genetic structure of marine species would be determined mainly by the duration of larval stage. The relationship between larval period and genetic structure of population has been rarely studied in Korea. In this study, genetic variations of cytochrome oxidase subunit I (COI) were analyzed in two dominant species on rocky shore habitats in the Korean peninsula: periwinkle Littorina brevicula and acorn barnacle Fistulobalanus albicostatus. Both species are not strongly structured and may have experienced recent population expansion. Unlike periwinkle, however, barnacle populations have considerable genetic variation, and show a bimodal pattern of mismatch distribution. These results suggest that barnacle populations are more affected by local adaptation rather than gene flow via larval migration. The bimodal patterns of barnacle populations observed in mismatch distribution plots imply that they may have experienced secondary contact. Further studies on seashore-dwelling species are expected to be useful in understanding the evolution of the coastal ecosystem around Korean waters.

• 식물분류학회지
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• 제53권2호
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• pp.148-156
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• 2023

Hibiscus hamabo (Malvaceae) is a deciduous shrub mainly found in northeast Asia, including China, Japan, and Korea. Due to its limited distribution on Jejudo Island and at several sites in Jeollanam-do in Korea, H. hamabo has been designated as an endangered species by the Ministry of the Environment and has been the subject of several restoration programs. In this study, we quantified genetic variations using double-digestion restriction-associated DNA sequencing technology in 96 individuals of H. hamabo from 13 distinct populations in Korea. We determined 3,352 genome-wide single nucleotide polymorphism loci after stringent filtering processes and analyzed the level of genetic variation within and among populations as well as the population differentiation and genetic ancestry with various assumptions pertaining to the population origin. Our results indicated weak differentiations among populations surveyed in this study but clearly suggested that most of the H. hamabo populations maintain a relatively high level of genetic diversity as evidence of frequent genetic exchanges among populations via outcrossing or sequential gene flows. For a more detailed analysis of the origin of Korean H. hamabo and its demographic history, it will be necessary to expand sampling in China and Japan.

• 한국가금학회지
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• 제50권3호
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• pp.187-191
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• 2023

Korean native ducks (KNDs) continue to have a high preference from consumers due to their excellent meat quality and taste characteristics. However, due to low productivity and fixed plumage color phenotype, it could not secure a large share in the domestic market compared to imported species. In order to improve the market share of KNDs, the genetic characteristics of the breed should be identified and used for improvement and selection. Therefore, this study was conducted to identify the genetic information of colored and white KNDs using next-generation resequencing data and screening for differences between the two groups. As a result of the analysis, the genetic variants that showed significant differences between the colored and white KND groups were mainly identified as mutations related to tyrosine activity. The variants were located in the genes that affect melanin synthesis and regulation, such as EGFR, PDGFRA, and DDR2, and these were reported as the candidate genes related to plumage pigmentation in poultry. Therefore, the results of this study are expected to be useful as a basis for understanding and utilizing the genetic characteristics of KNDs for genetic improvement and selection of white broiler KNDs.

• Parasites, Hosts and Diseases
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• 제52권5호
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• pp.557-564
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• 2014

The vir genes are antigenic genes and are considered to be possible vaccine targets. Since India is highly endemic to Plasmodium vivax, we sequenced 5 different vir genes and investigated DNA sequence variations in 93 single-clonal P. vivax isolates. High variability was observed in all the 5 vir genes; the vir 1/9 gene was highly diverged across Indian populations. The patterns of genetic diversity do not follow geographical locations, as geographically distant populations were found to be genetically similar. The results in general present complex genetic diversity patterns in India, requiring further in-depth population genetic and functional studies.