• Clinical and Experimental Pediatrics
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• v.53 no.3
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• pp.273-285
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• 2010

Completion of the human genome project has allowed a deeper understanding of molecular pathophysiology and has provided invaluable genomic information for the diagnosis of genetic disorders. Advent of new technologies has lead to an explosion in genetic testing. However, this overwhelming stream of genetic information often misleads physicians and patients into a misguided faith in the power of genetic testing. Moreover, genetic testing raises a number of ethical, legal, and social issues. Diagnostic genetic tests can be divided into three primary but overlapping categories: cytogenetic studies (including routine karyotyping, high-resolution karyotyping, and fluorescent in situ hybridization studies), biochemical tests, and DNA-based diagnostic tests. DNA-based testing has grown rapidly over the past decade and includes preandpostnatal testing for the diagnosis of genetic diseases, testing for carriers of genetic diseases, genetic testing for susceptibility to common non-genetic diseases, and screening for common genetic diseases in a particular population. Theoretically, once a gene's structure, function, and association with a disease are well established, the clinical application of genetic testing should be feasible. However, for routine applications in a clinical setting, such tests must satisfy a number of criteria. These criteria include an acceptable degree of clinical and analytical validity, support of a quality assurance program, possibility of modifying the course of the diagnosed disease with treatment, inclusion of pre-and postnatal genetic counseling, and determination of whether the proposed test satisfies cost-benefit criteria and should replace or complement traditional tests. In the near future, the application of genetic testing to common diseases is expected to expand and will likely be extended to include individual pharmacogenetic assessments.

• Korean Journal of Plant Taxonomy
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• v.47 no.1
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• pp.6-10
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• 2017

Microsatellite markers were isolated for Daphne kiusiana var. kiusiana (Thymelaeaceae), an evergreen broad-leaved shrub endemic to Korea and Japan. Because its populations in Jeju Island are morphologically controversial, and consistently threatened by anthropogenic pressures, taxonomic delimitation and conservation effort are required at the genetic level. We developed 21 polymorphic microsatellite loci from Next Generation Sequencing data. The primer set included di-, tri-, and tetra-nucleotide repeats. Variability in the markers was tested for 80 individuals of D. kiusiana from three natural populations in Jeju Island and Japan. Among the 21 loci, three were unavailable for population JKJU of Japan. The Neighbor-Joining tree based on microsatellite markers described here classified the three populations into two groups according to geographical or morphological traits. These will be a powerful genetics tool for determining the taxonomic boundary and establishing suitable conservation strategies for D. kiusiana in Jeju Island.

• Journal of Forest and Environmental Science
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• v.32 no.3
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• pp.311-322
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• 2016

Since forest trees form the basis of forest ecosystem, their prolong subsistence is crucial for various flora and fauna. The foremost challenges to sustain the forest ecosystem comprise of the declining forest tree population accompanied with structural changes due to afforestation and exploitation of forest area, environment changes, pests, pollution, and introgressive hybridization. For ex situ conservation approach, in vitro techniques encompass basic role for conserving tree genetic resources, predominantly where natural propagules like recalcitrant seed might not be appropriate for long-term conservation. The practice includes restricted growth techniques, conventional micropropagation, production and storage of synthetic seeds, and cryopreservation. Even though these practices have been applied chiefly to herbaceous species, but recently, woody species were also focused upon. Key conceptions, challenges and techniques for forest tree seed conservation are discussed briefly in this review with special emphasis on some successful cryopreservation approaches for long-term storage.

• Korean Journal of Plant Taxonomy
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• v.48 no.3
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• pp.195-200
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• 2018

Genetic assessments of rare and endangered species are among the first steps necessary to establish the proper management of natural populations. Transcriptome-derived single-sequence repeat markers were developed for the Korean endangered species Astilboides tabularis (Saxifragaceae) to assess its genetic diversity. A total of 96 candidate microsatellite loci were isolated based on transcriptome data using Illumina pair end sequencing. Of these, 26 were polymorphic, with one to five alleles per locus in 60 individuals from three populations of A. tabularis. The observed and expected heterozygosity per locus ranged from 0.000 to 0.950 and from 0.000 to 0.741, respectively. These polymorphic transcriptome-derived simple sequence repeat markers would be invaluable for future studies of population genetics and for ecological conservation of the endangered species A. tabularis.

• The Plant Pathology Journal
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• v.35 no.1
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• pp.1-10
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• 2019

Wheat blast occurred in Bangladesh for the first time in Asia in 2016. It is caused by a fungal pathogen, Magnaporthe oryzae Triticum (MoT) pathotype. In this review, we focused on the current status of the wheat blast in regard to host, pathogen, and environment. Despite the many efforts to control the disease, it expanded to neighboring regions including India, the world's second largest wheat producer. However, the disease occurrence has definitely decreased in quantity, because of many farmers chose to grow alternate crops according to the government's directions. Bangladesh government planned to introduce blast resistant cultivars but knowledges about genetics of resistance is limited. The genome analyses of the pathogen population revealed that the isolates caused wheat blast in Bangladesh are genetically close to a South American lineage of Magnaporthe oryzae. Understanding the genomes of virulent strains would be important to find target resistance genes for wheat breeding. Although the drier winter weather in Bangladesh was not favorable for development of wheat blast before, recent global warming and climate change are posing an increasing risk of disease development. Bangladesh outbreak in 2016 was likely to be facilitated by an extraordinary warm and humid weather in the affected districts before the harvest season. Coordinated international collaboration and steady financial supports are needed to mitigate the fearsome wheat blast in South Asia before it becomes a catastrophe.

• Endocrinology and Metabolism
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• v.33 no.4
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• pp.435-444
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• 2018

The prevalence of chronic diseases including osteoporosis and sarcopenia increases as the population ages. Osteoporosis and sarcopenia are commonly associated with genetics, mechanical factors, and hormonal factors and primarily associated with aging. Many older populations, particularly those with frailty, are likely to have concurrent osteoporosis and sarcopenia, further increasing their risk of disease-related complications. Because bones and muscles are closely interconnected by anatomy, metabolic profile, and chemical components, a diagnosis should be considered for both sarcopenia and osteoporosis, which may be treated with optimal therapeutic interventions eliciting pleiotropic effects on both bones and muscles. Exercise training has been recommended as a promising therapeutic strategy to encounter the loss of bone and muscle mass due to osteosarcopenia. To stimulate the osteogenic effects for bone mass accretion, bone tissues must be exposed to mechanical load exceeding those experienced during daily living activities. Of the several exercise training programs, resistance exercise (RE) is known to be highly beneficial for the preservation of bone and muscle mass. This review summarizes the mechanisms of RE for the preservation of bone and muscle mass and supports the clinical evidences for the use of RE as a therapeutic option in osteosarcopenia.

• Journal of Genetic Medicine
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• v.16 no.1
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• pp.23-26
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• 2019

Thrombophilia refers to inherited or acquired hemostatic disorders that result in a predisposition to blood clot formation. When combined with the hypercoagulable state that is characteristic of pregnancy, there is an increased risk of severe and recurrent pregnancy complications. Activated protein C resistance caused by factor V Leiden (FVL) mutation is known to be the most common cause of inherited thrombophilia in Caucasian population. FVL mutation has been related to pregnancy complications associated with hypercoagulation, e.g. miscarriage, intrauterine fetal demise, placental abruption, and intrauterine growth retardation. Although the FVL mutation is easily detected using molecular DNA techniques, patients who are heterozygous for this disorder often remain asymptomatic until they develop a concurrent prothrombotic condition. Because there are potentially serious effects of FVL mutation for pregnancy, and because effective treatment strategies exist, early detection and treatment of this condition might be considered.

• Journal of Apiculture
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• v.34 no.4
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• pp.285-293
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• 2019

The honey bee queen shows extreme polyandry and controlling the mating partners can only be possible either by artificial insemination or having remote isolated mating locations. Here we report on the German North Sea island of Heligoland. Because of its location 60 km from the mainland, the lack of a local population of honey bees, its size of just 1.4 ㎢ and suitable weather conditions during the months of May to July, it is considered an ideal location for controlled inseminations of high-quality virgin queen bees with drones deemed genetically superior to others. Methods how to rear virgin queen bees are described and information is provided on the numbers of queen bees, their supporting workers and drone bees that are taken to the island in the mating season. The bee most commonly involved in the Heligoland mating trials has become Apis mellifera carnica strain "Baltica". In one summer, for example, 80 virgin queens (belonging to beekeepers from nine different locations in northern Germany) each with about 600 worker bees plus two drone populations of around 2,000 drones were taken by ship to Heligoland. On their return to the mainland no later than 3.5 weeks after the mating exercise, the beekeepers could register a mating success rate of 80%. This information can help operation management of the new remote mating centre of Weedo Island, Jeonbuk in Korea, which is currently under construction.

• Journal of Genetic Medicine
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• v.17 no.2
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• pp.92-96
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• 2020

Hypotonia, Ataxia, and Delayed Development Syndrome (HADDS) is an autosomal-dominant, extremely rare neurodevelopmental disorder caused by the heterozygous EBF3 gene mutation. EBF3 is located on chromosome 10q26.3 and acts as a transcription factor that regulates neurogenesis and differentiation. This syndrome is characterized by dysmorphism, cerebellar hypoplasia, urogenital anomaly, hypotonia, ataxia, intellectual deficit, and speech delay. The current report describes a 3-year-old Korean male carrying a de novo EBF3 mutation, c.589A>G (p.Asn197Asp), which was identified by whole exome sequencing. He manifested facial dysmorphism, hypotonia, strabismus, vermis hypoplasia, and urogenital anomalies, including vesicoureteral reflux, cryptorchidism, and areflexic bladder. This is the first report of a case of HADDS cause by an EBF3 mutation in the Korean population.

• ALGAE
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• v.37 no.2
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• pp.135-147
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• 2022

The red algal genus Chondrus have long been used as raw materials for carrageenan and dietary fiber in health foods. Despite the importance of genetic information in safeguarding natural seaweed resources, knowledge of the population genetics of Chondrus in the northwest Pacific is limited. In this study, genetic diversity and phylogeographic structure of 45 populations (777 specimens) of Chondrus from Korea, China, and Japan were evaluated based on mitochondrial COI-5P gene sequences, and phylogenetic relationships were confirmed based on plastid rbcL gene sequences. Molecular analyses assigned the specimens in this study to three Chondrus species: C. nipponicus, C. ocellatus, and C. giganteus; phenotype-based species classification was impossible owing to their high morphological plasticity. We found moderate intraspecific genetic diversity and a shallow phylogeographic structure in both for C. nipponicus and C. ocellatus, and low intraspecific genetic diversity in C. giganteus. Each of the three species exhibited high-level intraspecific gene flow among regions based on the most common haplotypes (CN1 for C. nipponicus, CO1 for C. ocellatus, and CG1 for C. giganteus). Our comprehensive genetic information provides insights into the phylogeographic patterns and intraspecific diversity of the economically important Chondrus species. It also highlights the need to conserve existing natural Chondrus resources through continuous monitoring of genetic diversity and phylogeographic pattern.