• Korean Journal of Agricultural Science
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• v.47 no.4
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• pp.815-827
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• 2020

The epidermal growth factor (EGF) transgenic soybean was developed and biosynthesis of human epidermal growth factor (hEGF) in soybean seeds was confirmed. Also, EGF transgenic soybean were found to contain a herbicide resistance selectable marker by introduction of phosphinothricin acetyltransferase (PAT) gene from the Streptomyces hygroscopicus. For biosafety assessment, the EGF transgenic soybean expressing the EGF biosynthesis gene EGF and herbicide resistant gene PAT was tested to determine effects on survival of Cyprinus carpio, commonly used as a model organism in ecotoxicological studies. C. carpio was fed 100% ground soybean suspension, EGF soybean or non-genetically modified (GM) counterpart soybean (Gwangan). Gene expression of EGF soybean was confirmed by PCR and ELISA to have EGF/PAT. Feeding test showed that no significant differences in cumulative immobility or abnormal response between C. carpio samples fed on EGF soybean and non-GM counterpart soybean. The 48 h-EC50 values of the EGF and non-GM soybean were 1,688 mg·L-1 (95% confidence limits: 1,585 - 1,798 mg·L-1) and 1,575 mg·L-1 (95% confidence limits: 1,433 - 1,731 mg·L-1), respectively. The soybean NOEC (no observed effect concentration) value for C. carpio was suggested to be 625 mg·L-1. We concluded that there was no significant difference in toxicity for non-target organisms (C. carpio) between the EGF soybean and non-GM counterparts.

• Journal of Korean Society of Occupational and Environmental Hygiene
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• v.25 no.3
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• pp.254-284
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• 2015

Objectives: There is a requirement to select target materials for mutagenicity(Genotoxicity) testing, so we determined to set the test priorities of them by searching the related database. Methods and Results: We searched a number of databases to find information on mutagenicity tests with chemicals under the Occupational Safety and Health Act(OSH Act), such as KOSHANET, National Toxicology Program(NTP), European Chemicals Agency(ECHA), US National Library of Medicine(NLM), and Genetic Toxicology Data Bank(GENE-TOX), as well as ChemIDplus webpage, and presented the information. Also we anticipated their hazards with ACToR sites to confirm the 58 mutagenicity(Genotoxicity) tests we will perform. Conclusions: We presented target materials for mutagenicity testing with specific GLP tests consisting of reverse mutation(Ames), chromosomal aberration and micronucleus test.

• Asian-Australasian Journal of Animal Sciences
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• v.15 no.12
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• pp.1822-1830
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• 2002

The microsatellites are the short tandem repeats of 1 to 6 bp long monomer sequences that are repeated several times. These short tandem repeats are considered to be generated by the slipped strand mispairing. Based on the unique capability of alternating purine-pyrimidine residues to form Z-DNA, the possible role of the microsatellites in gene regulation has been proposed. The microsatellites are highly polymorphic, follow Mendelian inheritance and are evenly distributed throughout the genomes of eukaryotes. They are easy to isolate and the polymerase chain reaction based typing of the alleles can be readily automated. These properties make them the preferred markers for comparison of the genetic structure of the closely related breeds/populations; very high-resolution genetic mapping and parentage testing etc. The microsatellites have rapidly replaced the restriction fragment length polymorphism (RFLP) and the random amplified polymorphic DNA (RAPD) in most applications in the population genetics studies in most species, including the various farm animals viz. cattle, buffalo, goat, sheep and pigs etc. More and more reports are now available describing the use of microsatellites in pigs ranging from measurement of genetic variation between breeds/populations, developing high resolution genetic maps to identifying and mapping genes of biological and economic importance.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.2
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• pp.891-894
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• 2014

This study is aimed to investigate the role of paired boxed gene 1 (PAX1) methylation analysis by methylation-sensitive high-resolution melting (MS-HRM) in the detection of high grade lesions in atypical squamous cells cannot exclude high-grade squamous intraepithelial lesion (ASC-H) and compared its performance with the Hybrid Capture 2 (HC2) human papillomavirus (HPV) test. In our study, 130 cases with a diagnosis of ASC-H from the cervical cytological screening by Thinprep cytologic test (TCT) technique were selected for triage. Their cervical scrapings were collected and evaluated by using PAX1 methylation analysis (MS-HRM) and high-risk HPV DNA test (HC2), followed by colposcopy and cervical biopsy. Chi-square test were used to test the differences of PAX1 methylation or HPV infection between groups. In the detection of CIN2+, the sensitivity, specificity, the PPV, NPV and the accuracy of PAX1 MS-HRM assay and high-risk HPV (HR-HPV) tests were respectively 80.6% vs 67.7%, 94.9% vs 54.5%, 83.3%, vs 31.8%, 94.0% vs 84.4%, and 91.5% vs 57.7%. The PAX1 MS-HRM assay proved superior to HR-HPV testing in the detection of high grade lesions (CIN2+) in ASC-H. This approach could screen out the majority of high grade lesion cases of ASC-H, and thus could reduce the referral rate to colposcopy.

• Korean Journal of Veterinary Research
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• v.47 no.4
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• pp.457-460
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• 2007

The objective of the study was to establish routine parentage testing system in Beagle dogs using 22 ISAG (International Society for Animal Genetics) canine microsatellite markers (2005). Blood collections were obtained from a mother dog, 4 candidate father dogs and 3 offspring (n = 8). Genomic DNA samples were extracted from 8 Beagle dogs blood for PCR analysis. PCR products for the allele were analyzed by ABI 3130 DNA Sequencer and GeneScan (Ver 3.0) analysis and Genotyper (Ver. 2.1) software. The genetic relationship of mother and 3 offspring as well as one father dog among 4 candidate father dogs was confirmed by microsatellite allele analysis. The results of locus for amelogenin, which was designed for sexing, were matching with real gender among 8 Beagle dogs (female; 217/217 homozygosity, male; 179/217 heterozygosity). Twenty two ISAG microsatellite markers are useful the parentage test of Beagle dogs. In addition, amelogenin is an applicable marker to detecting real sex in dogs.

• Journal of Genetic Medicine
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• v.19 no.1
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• pp.27-31
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• 2022

X-linked dominant hypophosphatemic rickets are the most common form of familial hypophosphatemic rickets resulting from hypophosphatemia caused by renal phosphate wasting, which in turn is a result of loss-of-function mutations in PHEX. Herein, we report a 39-year-old female with short stature and skeletal deformities and 12-month-old asymptomatic daughter. The female has a history of multiple surgical treatments because of lower limb deformities. Her biochemical findings revealed low serum phosphorus levels with elevated serum alkaline phosphatase activity and normal serum calcium levels, suggesting presence of hypophosphatemic rickets. To identify the molecular causes, we used a multigene testing panel and found a mutation, c.667dup (p.Asp223GlyfsTer15), in PHEX gene. To the best of our knowledge, this is a novel mutation. A heterozygous form of the same variant was detected in daughter, who showed no typical symptoms such as bow legs, frontal bossing, or waddling gate, but presented early signs of impaired mineralization in both X-ray and biochemical findings. The daughter was initiated onto early medical treatment with oral phosphate supplementation and an active vitamin D analog. Because the daughter was genetically diagnosed based on a family history before the onset of symptoms, appropriate medical management was possible from early infancy.

• Clinical and Experimental Pediatrics
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• v.54 no.11
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• pp.473-476
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• 2011

Primary hypokalemic periodic paralysis (HOKPP) is an autosomal dominant disorder manifesting as recurrent periodic flaccid paralysis and concomitant hypokalemia. HOKPP is divided into type 1 and type 2 based on the causative gene. Although 2 different ion channels have been identified as the molecular genetic cause of HOKPP, the clinical manifestations between the 2 groups are similar. We report the cases of 2 patients with HOKPP who both presented with typical clinical manifestations, but with mutations in 2 different genes ($CACNA1S$ p.Arg528His and $SCN4A$ p.Arg672His). Despite the similar clinical manifestations, there were differences in the response to acetazolamide treatment between certain genotypes of $SCN4A$ mutations and $CACNA1S$ mutations. We identified p.Arg672His in the $SCN4A$ gene of patient 2 immediately after the first attack through a molecular genetic testing strategy. Molecular genetic diagnosis is important for genetic counseling and selecting preventive treatment.

• Journal of Genetic Medicine
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• v.10 no.1
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• pp.43-46
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• 2013

Adrenoleukodystrophy (ALD) is an X-linked disorder which has diverse constellation of clinical pictures, ranging from the severe childhood cerebral form to adrenocortical insufficiency without neurological manifestations. This disorder is caused by the mutations in the ABCD1 gene encoding the adrenoleukodystrophy protein (ALDP), a transporter in the peroxisome membrane. ALD in most cases is inherited from one parent. Here, we report an incidentally identified sporadic case with ALD after traffic accident. He had adrenocortical insufficiency as well as abnormal findings in brain image. Genetic testing of ABCD1 gene revealed a previously reported mutation. With the description of clinical features of ALD in this patient, we discussed the difficulty in determining an appropriate therapeutic option for ALD patients with minimal neurological manifestation.

• Proceedings of the Korean Society of Crop Science Conference
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• 2017.06a
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• pp.114-114
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• 2017

The aim of this research is to improve Korean lettuce varieties in terms of Fusarium wilt, bolting under hot weather and nutritional function applying genomics approaches. To find related gene/molecular markers, we selected 96 lettuce varieties which are popular in domestic fresh vegetable markets. To construct frame works of the genomic approaches, we exploited GBS(Genotyping by Sequencing) and found total 61,407 SNPs from lettuce whole genomes (MAF>0.02). We observed that Three SNPs array per 100kb of lettuce genome. Average LD decay is expected to expand up to 3.9M(million)bp. Thus, we concluded that about 104 SNPs exist within a LD, which is sufficient to use GWAS(Genome-wide Association Study) to explore the useful gene/molecular markers. In addition, we optimized mass screening method to evaluate disease resistance levels against Fusarium wilt and are testing the bolting sensitivity during summer growing season for those lettuce allele mining set.

• The Plant Pathology Journal
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• v.23 no.3
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• pp.155-160
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• 2007

In order to develop chili pepper bacterial spot resistant cultivars and near-isogenic lines (NILs) to prompt the molecular mapping of the resistance gene, we have run backcross breeding program since 1994. Two resistance genes against Xanthomonas axonopodis pv. vesicatoria Bs2 from Fla. XVR 3-25 and Bs3 from our breeding line 25-11-3-2, were introduced into a land race, Chilseongcho (abbreviated to Chilseong hereafter) with good fruit guality. We report here the testing of $BC_4F_3\;to\;BC_4F_5$. We found that $BC_4F_5$ lines of the crosses were homozygous with respect to the respective genes of introduction. The lines, in which Bs2 gene was introduced, were hypersensitively resistant to both race 1 and race 3 of X. axonopodis pv. vesicatoria, whereas, those in which Bs3 was introduced were resistant to race 1.