• The korean journal of orthodontics
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• v.36 no.4
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• pp.284-294
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• 2006

Objective: Activating mutations in the fibroblast growth factor receptor-2 (FGFR2) have been shown to cause syndromic craniosynostosis such as Apert and Crouzon syndromes. The purpose of this pilot study was to investigate the resultant phenotypes induced by the two distinctive bone-targeted gene constructs of FGFR2, Pro253Arg and Cys278Phe, corresponding to human Apert and Crouzon syndromes respectively. Methods: Wild type and a transgenic mouse model with normal FGFR2 were used as controls to examine the validity of the microinjection. Micro-CT and morphometric analysis on the skull revealed the following results. Results: Both Apert and Crouzon mutants of FGFR2 induced fusion of calvarial sutures and anteroposteriorly constricted facial dimension, with anterior crossbite present only in Apert mice. Apert mice differed from Crouzon mice and transgenic mice with normal FGFR2 in the anterior cranial base flexure and calvarial flexure angle which implies a possible difference in the pathogenesis of the two mutations. In contrast, the transgenic mice with normal FGFR2 displayed normal craniofacial phenotype. Conclusion: Apert and Crouzon mutations appear to lead to genotype-specific phenotypes, possibly causing the distinctive sites and sequence of synostosis in the calvaria and cranial base. The exact function of the altered FGFR2 at each suture needs further investigation.

• Journal of Genetic Medicine
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• v.4 no.2
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• pp.186-189
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• 2007

More than 6,000 rare disorders including genetic diseases have been reported. Of them, 1,500 diseases (1,211 for clinical diagnosis and 289 for research only) are technically possible for genetic testing. In Korea, since 2005, only 63 genetic diseases is permitted for prenatal genetic testing by the "Bioethics and Biosafety Law". The article 25 in the law prescribes 63 genetic diseases without clear indication for its selection and inclusion criteria. In EU, USA, and other foreign countries, however, there is no provision in the statute on prenatal genetic testing; it is not restricted by a law. Recently, a woman (Mrs. L, 38y) who is a carrier for Menkes disease made an appeal to a government for an amendment of the "Bioethics and Biosafety Law" prohibiting the prenatal diagnosis of her pregnancy at risk for Menkes disease. Menkes disease (MNK) is an X-linked recessive disorder characterized by neurodegeneration, connective tissue defects and hair abnormalities, and no effective treatment is available yet. The prevalence rate of MNK is one in about 250,000 live births. Menkes syndrome patients fail to absorb copper from the gastrointestinal tract in quantities adequate for meeting nutritional needs. These needs seem particularly acute during the initial 12 month of life, when the velocity of brain growth and motor neurodevelopment. Most of pts. die around 3yrs. of age. Mrs. L had a boy with Menkes disease who died at 2y.o. in 2001. Subsequent pregnancy in 2003, she was able to have prenatal genetic testing for mutation of the Menkes (ATP7A) gene and delivered a healthy baby boy. Now, She is pregnant again and wants to have prenatal diagnosis. however, this time, she was not allowed to have any more because Menkes disease is not included in 63 genetic diseases permitted by the law for prenatal genetic testing, in spite of the fact that she is a Menkes disease carrier and her pregnancy is at risk to have an affected baby. This case shows the practical problem of the legal restriction for prenatal genetic testing in Korea. In this study, we report a arguable case and discuss the controversial issues in the legal restriction for prenatal genetic testing in Korea.

• Journal of Animal Science and Technology
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• v.46 no.6
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• pp.887-896
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• 2004

The present study was carried out to investigate the blood markers of Mongolian horses. The blood redcell types and blood protein types(biochemical polymorphisrns) were tested from 19 Mongolian horses by serological and electrophoretic procedure, and their phenotypes and gene frequencies were estimated. The blood group and biochemical polymorphism phenotypes observed with high frequency were $A^{af}$(42.1%), $C^a$(89.5%), $K^-$(84.2%), $U^a$(63.2%), $P^a$(42.1%) $P^-$42.1%), $Q^c$(31.6%) $Q^-$(31.6%), $AL^{AB}$((52.6%), AI$B^K$(89.5%), $ES^1$(63.2%), $GC^F$(78.9%), $HB^BI$1(68.4%), PG$D^F$(84.2%), $TF^{FIR}$(21.1%), $TF^{F2R}$(21.1%)(21.1%), and genotypes $D^{cgm/dghm}$(15.8%), $D^{dghm/dghm}$(15.8%), $D^{ad/dghm}$(10.5%), $D^{ade/dghm}$(10.5%), in Mongolian horses, respectively. Alleles observed with high frequency were $A^a$(0.4211), $C^a$(0.8947), $K^-$(0.8421), $U^a$(0.6316), $P^a$(0.4474), $Q^c$(0.4474), $D^{dghm}$(0.4211), $AL^B$(0.6579), $AIB^K$(0.9211), $ES^I$(0.7895), $GC^F$(0.8947), $HB^{BI}$(0.7895), $PGD^F$(0.8421) and $TF^R$(0.3421) in Mongolian horses. These results present basic information for estimating the genetic relationships between the Korean native horse, and developing a system for parentage verification and individuals identification in Mongolian horse.

• Journal of Ginseng Research
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• v.41 no.3
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• pp.257-267
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• 2017

Background: Heat-processed ginseng, sun ginseng (SG), has been reported to have improved therapeutic properties compared with raw forms, such as increased antidiabetic, anti-inflammatory, and antihyperglycemic effects. The aim of this study was to investigate the antiobesity effects of SG through the suppression of cell differentiation and proliferation of mouse 3T3-L1 preadipocyte cells and the lipid accumulation in Caenorhabditis elegans. Methods: To investigate the effect of SG on adipocyte differentiation, levels of stained intracellular lipid droplets were quantified by measuring the oil red O signal in the lipid extracts of cells on differentiation Day 7. To study the effect of SG on fat accumulation in C. elegans, L4 stage worms were cultured on an Escherichia coli OP50 diet supplemented with $10{\mu}g/mL$ of SG, followed by Nile red staining. To determine the effect of SG on gene expression of lipid and glucose metabolism-regulation molecules, messenger RNA (mRNA) levels of genes were analyzed by real-time reverse transcription-polymerase chain reaction analysis. In addition, the phosphorylation of Akt was examined by Western blotting. Results: SG suppressed the differentiation of 3T3-L1 cells stimulated by a mixture of 3-isobutyl-1-methylxanthine, dexamethasone, and insulin (MDI), and inhibited the proliferation of adipocytes during differentiation. Treatment of C. elegans with SG showed reductions in lipid accumulation by Nile red staining, thus directly demonstrating an antiobesity effect for SG. Furthermore, SG treatment down-regulated mRNA and protein expression levels of peroxisome proliferator-activated receptor subtype ${\gamma}$ ($PPAR{\gamma}$) and CCAAT/enhancer-binding protein-alpha ($C/EBP{\alpha}$) and decreased the mRNA level of sterol regulatory element-binding protein 1c in MDI-treated adipocytes in a dose-dependent manner. In differentiated 3T3-L1 cells, mRNA expression levels of lipid metabolism-regulating factors, such as amplifying mouse fatty acid-binding protein 2, leptin, lipoprotein lipase, fatty acid transporter protein 1, fatty acid synthase, and 3-hydroxy-3-methylglutaryl coenzyme A reductase, were increased, whereas that of the lipolytic enzyme carnitine palmitoyltransferase-1 was decreased. Our data demonstrate that SG inversely regulated the expression of these genes in differentiated adipocytes. SG induced increases in the mRNA expression of glycolytic enzymes such as glucokinase and pyruvate kinase, and a decrease in the mRNA level of the glycogenic enzyme phosphoenol pyruvate carboxylase. In addition, mRNA levels of the glucose transporters GLUT1, GLUT4, and insulin receptor substrate-1 were elevated by MDI stimulation, whereas SG dose-dependently inhibited the expression of these genes in differentiated adipocytes. SG also inhibited the phosphorylation of Akt (Ser473) at an early phase of MDI stimulation. Intracellular nitric oxide (NO) production and endothelial nitric oxide synthase mRNA levels were markedly decreased by MDI stimulation and recovered by SG treatment of adipocytes. Conclusion: Our results suggest that SG effectively inhibits adipocyte proliferation and differentiation through the downregulation of $PPAR{\gamma}$ and $C/EBP{\alpha}$, by suppressing Akt (Ser473) phosphorylation and enhancing NO production. These results provide strong evidence to support the development of SG for antiobesity treatment.

• Research in Plant Disease
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• v.21 no.2
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• pp.50-57
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• 2015

Control of nematode has become difficult owing to the restricted use of effective soil fumigant, methyl bromide, and other non-fumigant nematicides. Therefore, it is urgently necessary to develop microbial nematicide to replace chemical nematicides. In this study, the 50% aqueous methanol extraction solution of fermentation broths of 2,700 actinomycete strains were tested for their nematicidal activity against second stage of juveniles (J2s) of Meloidogyne incognita. As the results, only the 50% aqueous methanol extraction solution of AN110065, at 20% equivalent to 10% fermentation broth, showed strong nematicidal activity with 78.9% of mortality 24 h after treatment and 94.1% of mortality at 72 h. The 16S rRNA gene sequencing showed that the strain sequence was 99.78% identical to Streptomyces netropsis. The extract of S. netropsis AN110065 fermentation broth was successively partitioned with ethyl acetate and butanol and then the ethyl acetate, butanol and water layers were investigated for their nematicidal activity against the M. incognita. At $1000{\mu}g/ml$, ethyl acetate layer showed the strongest activity of 83.5% of juvenile mortality 72 h after treatment. The pot experiment using the fermentation broth of AN110065 on tomato plant against M. incognita displayed that it evidently suppressed gall formation at a 10-fold diluent treatment. The tomato plants treated with the fermentation broth of S. netropsis AN110065 did not show any phytotoxicity. The results suggest that S. netropsis AN110065 has a potential to serve as microbial nematicide in organic agriculture.

• KOREAN JOURNAL OF CROP SCIENCE
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• v.29 no.1
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• pp.76-83
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• 1984

This experiment was performed to investigate the flowering habit of sesame (Sesamum indicum L.). Sesame varieties tested could be classified into 8 different plant types by their morphological traits such as capsule shape, capsule setting habit and branching types among sesame gene pool of Crop Experiment Station, ORD. The first flower was appeared at the lowest node on main stem. Flowers were appeared progressively toward the tip of the main stem and also toward the tips of branches. The interval of flowering for a node was about one day, but 3 to 8 days for the flowers on the tips. Side flowers started at 4 to 5 nodes lower than those of center flower at the same day. Flowers were beared 2 by 1 node on the middle part of flower setting node (7-9) in mono capsule setting habit in spite of its normal is 1 by 1 node on the other nodes. Flowers were beared opposite direction on each node of stem and flowering toward the tip of main stem composed of cross shape between nodes and spiral, reverse of clockwise direction. We called this habit as cross spiral flowering order and cross spiral phyllotaxis. The first flower on branches was appeared when center flower on the 5th node of main stem began to flower. The branches produced at higher nodes on main stem showed larger flowering periods and more number of flowers than that at lower parts. BTB (Branch, Tricapsule, Bicarpels, 4 Loculi) type showed three capsule setting habits and same flowering period both on main stem and branches while BTQ (Branch, Tricapsule, Quadricarpels, 8 Loculi) type showed three capsule setting habit on main stem and mono-capsule setting habit on branches. In BTQ type, the period of flowering was much shorter on branches than on main stem. Branching type was considered more promising than non branching type for the breeding of early maturing high yielding variety because branching type has the advantage of bearing a lot of flowers in comparatively short flowering period.

• Journal of Practical Agriculture & Fisheries Research
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• v.4 no.1
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• pp.70-79
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• 2002

This study was conducted to determine correlations and combining abilities of leaf lengths, leaf widths, petiole lengths, number of branches, number of leaves, leaf areas, fresh weights, dry weights and number of flowers in F₁ crosses made with the partial seven-parent diallel cross in Viola tricolor. Leaf lengths and leaf widths showed highly positive correlation with petiole length and negative correlation with number of branches, number of leaves and number of flowers. There was positive correlation between the number of leaves and flowers as well as between leaf area and fresh weight. Mean squares of general combining ability(GCA) and specific combining ability(SCA) were highly significant for all the parameters. Variance component values of SCA were greater than those of GCA for all the parameters except leaf length, implying preponderance of non-additive gene actions for these characters. The lines C and G for leaf lengths and widths, the lines A and F for number of leaves, the lines A, B and G for leaf areas, and the lines B and F for number of flowers showed relatively high GCA effects. The crosses of A×B and B×D exhibited high SCA effects on increasing leaf lengths, leaf widths, number of leaves, fresh weights and number of flowers. And also the crosses of B×E and D×G exhibited high SCA effects on decreasing leaf lengths, leaf areas and fresh weights as well as increasing number of flowers. The broad sense heritabilities of most characters were high compared with the narrow sense one. Those of leaf length, leaf width, petiole length and number of leaves were high in both the broad and narrow sense heritabilities.

• Journal of Genetic Medicine
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• v.7 no.2
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• pp.125-132
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• 2010

Purpose: Preimplantation genetic diagnosis (PGD), also known as embryo screening, is a pre-pregnancy technique used to identify genetic defects in embryos created through in vitro fertilization. PGD is considered a means of prenatal diagnosis of genetic abnormalities. PGD is used when one or both genetic parents has a known genetic abnormality; testing is performed on an embryo to determine if it also carries the genetic abnormality. The main advantage of PGD is the avoidance of selective pregnancy termination as it imparts a high likelihood that the baby will be free of the disease under consideration. The application of PGD to genetic practices, reproductive medicine, and genetic counseling is becoming the key component of fertility practice because of the need to develop a custom PGD design for each couple. Materials and Methods: In this study, a survey on the contents of genetic counseling in PGD was carried out via direct contact or e-mail with the patients and specialists who had experienced PGD during the three months from February to April 2010. Results: A total of 91 persons including 60 patients, 49 of whom had a chromosomal disorder and 11 of whom had a single gene disorder, and 31 PGD specialists responded to the survey. Analysis of the survey results revealed that all respondents were well aware of the importance of genetic counseling in all steps of PGD including planning, operation, and follow-up. The patient group responded that the possibility of unexpected results (51.7%), genetic risk assessment and recurrence risk (46.7%), the reproduction options (46.7%), the procedure and limitation of PGD (43.3%) and the information of PGD technology (35.0%) should be included as a genetic counseling information. In detail, 51.7% of patients wanted to be counseled for the possibility of unexpected results and the recurrence risk, while 46.7% wanted to know their reproduction options (46.7%). Approximately 96.7% of specialists replied that a non-M.D. genetic counselor is necessary for effective and systematic genetic counseling in PGD because it is difficult for physicians to offer satisfying information to patients due to lack of counseling time and specific knowledge of the disorders. Conclusions: The information from the survey provides important insight into the overall present situation of genetic counseling for PGD in Korea. The survey results demonstrated that there is a general awareness that genetic counseling is essential for PGD, suggesting that appropriate genetic counseling may play a important role in the success of PGD. The establishment of genetic counseling guidelines for PGD may contribute to better planning and management strategies for PGD.