• Journal of Internet of Things and Convergence
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• v.4 no.2
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• pp.21-28
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• 2018

I investigated that ALK receptor tyrosine kinase (ALK) gene polymorphisms were contributed to susceptibility to ICH in Korean population. I recruited 156 ICH patients and 425 healthy controls for this study, respectively. rs1881421, rs1881420, rs3795850, and rs2246745 single nucleotide polymorphisms (SNPs) were genotyped. The genotype and allele distributions of tested four SNPs was analyzed using the SNPStats, SPSS 22.0, and the Haploview v.4.2 software. The Odd's ratios (OR), 95% confidence intervals (CI), and P values were calculated in allele and genotype models. I found that rs1881421, rs1881420, rs3795850, and rs2246745 SNPs of ALK gene (rs1881421, OR=2.02, 95% CI=1.54-2.64, p<0.001; rs1881420, OR=0.53, 95% CI=1.16-2.01, p=0.003; rs3795850, OR=1.54, 95% CI=1.17-2.02, p=0.002; rs2246745, OR=1.95, 95% CI=1.46-2.60, p<0.001 in each allele analysis). And distributions of CC, GT, and GC haplotypes between the ICH group and the control group also showed significant association with ICH (CC haplotype, p<0.001; GT haplotype, p=0.006; GC haplotype, p<0.001). These minor alleles of tested four SNPs in ALK gene were contributed to increased risk of development for ICH. Our findings suggested that the ALK gene may be a risk factor for susceptibility to ICH.The Korea Internet of Things Society.

• Journal of Plant Biotechnology
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• v.45 no.1
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• pp.17-29
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• 2018

This study was conducted to investigate a morphological trait in 294 rice accessions including Korean breeding lines. We also carried out a genome-wide association study (GWAS) to detect significant single nucleotide polymorphism markers and candidate genes affecting major agronomic traits. A Manhattan plot analysis of GWAS using morphological traits showed that phenotypic and statistical significance was associated with a chromosome in each group. The significance of SNPs that were detected in this study was investigated by comparing them with those found previously studied QTL regions related to agronomic traits. As a result, SNP (S8-19815442), which is significant with regard to leaf angle, was located in the known QTL regions. To observe gene mutations related to leaf angle in a candidate gene, Os08g31950, its sequences were compared with sequences in previously selected rice varieties. In Os08g31950, a single nucleotide mutation occurred in one region. To compare relative RNA expression levels of candidate gene Os08g31950, obtained from GWAS analysis of 294 rice accessions and related to lateral leaf angle, we investigated relative levels by selecting 10 erect leaf angle varieties and 10 horizontal leaf angle varieties and examining real-time PCR. In Os08g31950, a high level of expression and various expression patterns were observed in all tissues. Also, Os08g31950 showed higher expression levels in the erect leaf angle variety group and higher expression rates in the leaf than in the root. The candidate gene detected through GWAS would be useful in developing new rice varieties with improved yield potential through future molecular breeding.

• Journal of Life Science
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• v.20 no.3
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• pp.462-465
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• 2010

Sweetness plays an important role in providing calories and promoting appetite for food. Since it has been known that genetic factor(s) is involved in individual differences in taste sensitivity in humans, this study aimed to examine genetic variations of the TAS1R2 gene, one of the components for tasting sweet compounds, by using DNA sequencing analysis from 98 unrelated Korean subjects. As a result, 12 different single nucleotide polymorphisms (SNPs) were identified in the hTAS1R2 gene and most of them were nonsynonymous. Also, two novel SNPs were found for the first time in this study. It was noted that the frequencies of these SNPs were common in the Korean population. 20 different haplotypes with coding SNPs (cSNPs) were also found in this study. Three out of these haplotypes were common, showing frequencies of > 10%. The repertoire and frequencies of cSNPs and haplotypes in the hTAS1R2 gene will provide information that will help identify a functional ligand receptor common in the Korean population.

• Korean Journal of Plant Resources
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• v.28 no.5
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• pp.648-655
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• 2015

Balloon flower (Platycodon grandiflorum A. DC.) is a perennial plant of mainly Campanulaceae family, which have been widely used as a food ingredient and herbal medicine in East Asia. Although demands on related products and yearly cultivation area for balloon flower are increasing, diverse fundamental technologies and molecular breeding studies are not very well supported in Platycodons. In this study, 30 random amplification of polymorphic DNA (RAPD) primers were test in an attempt to explore genetic diversities. In addition, sequences information of the actin gene, a well conserved gene encoding a globular protein that forms microfilaments, was retrieved and analyzed. Two actin homologs were recovered; 3.4 kb fragment is a Pg-actin and 1.4 kb fragment is a Pg-actin homolog with 28.6% similarity. We have confirmed that the Pg-actin gene is configured into 4 exons and 3 introns. A single nucleotide polymorphism (SNP), G↔A, was detected on the intron 3, which served as a target for the CAPS marker development. The marker Pg-Actin-Int3 was applied to 32 balloon flower accessions. Balloon flower DNA sequence information generated in this study is expected to contribute to the analysis and molecular breeding and genetic diversity analysis of balloon flowers.

• Journal of Life Science
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• v.29 no.12
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• pp.1314-1320
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• 2019

This study aimed to identify single nucleotide polymorphisms in exon 8 region of the calmin (CLMN) gene and to evaluate their associations with meat yield and quality traits in Hanwoo (Korean cattle). We compared gene expression pattern of CLMN between high and low marbling score groups with extremely different intramuscular fat content of the longissimus lumborum muscles in Hanwoo. The CLMN gene was highly expressed in the high marbling score group. Total of nine SNPs were identified in the exon 8 region of CLMN gene, genotyping of the SNPs was carried out using direct-sequencing analysis in Hanwoo population (n=300) to evaluate their association with meat yield and quality traits. As a result, g.23249G>C in exon 8 was significantly associated with marbling score. Animals with the CC and GC genotypes had higher marbling score than those with the GG genotype. We constructed haplotypes of CLMN gene by linkage disequilibrium analysis and analyzed association between haplotypes and meat yield and quality traits. Haplotype of CLMN gene was associated with marbling score. As a result, animals with the CC-CC haplotype (g.23249G>C and g.23465T>C SNPs) had higher marbling score than those with CT and GT haplotypes. These findings suggest that the SNPs of bovine CLMN gene may be a useful molecular marker for selection of meat quality traits in Hanwoo.

• Clinical and Experimental Reproductive Medicine
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• v.41 no.3
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• pp.120-124
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• 2014

Objective: The aim of the present study was to examine whether interactions between polymorphisms in the thyroglobulin and ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16) genes are associated with the development of premature ovarian failure (POF). Methods: A total of 75 patients with POF and 196 controls were involved in this study. We used a GoldenGate assay to genotype single nucleotide polymorphisms (SNPs). Logistic regression analysis was performed to identify POF-associated polymorphisms and synergistic interactions between polymorphisms in the thyroglobulin and ADAMTS16 genes. Results: Single gene analyses using logistic regression analysis showed no significant association between polymorphisms in the two genes and POF. In the results from interaction analyses, we found seven synergistic interactions between the polymorphisms in thyroglobulin and ADAMTS16, although there was no combination showing p-values lower than the significant threshold using the Bonferroni correction. When the AG genotype was present at the rs853326 missense SNP, the A and G alleles at the tagging SNPs rs16875268 and rs13168665 showed significant interactions (odds ratios=5.318 and 16.2 respectively; 95% confidence intervals, 1.64-17.28 and 2.08-126.4; p=0.0054 and 0.0079). Conclusion: Synergistic interactions between polymorphisms in the thyroglobulin and ADAMTS16 genes were associated with an increased risk of POF development in Korean women.

• KOREAN JOURNAL OF CROP SCIENCE
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• v.44 no.1
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• pp.78-85
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• 1999

To investigate kernel hardness, a compression test which is widely used to measure the hardness of individual kernels as a physical testing method was made simultaneously with the measurement of friabilin (15KDa) which is strongly associated with kernel hardness and was recently developed as a biochemical marker for evaluating kernel hardness in 79 Korean wheat varieties and experimental lines. With the scattered diagram based on the principal component analysis from the parameters of the compression test, 79 Korean wheat varieties were classified into three groups based on the principal component analysis. Since conventional methods required large amount of flour samples for analysis of friabilin due to the relatively small amount of friabilin in wheat kernels, those methods had limitations for quality prediction in wheat breeding programs. An extraction of friabilin from the starch of a single kernel through cesium chloride gradient centrifugation was successful in this experiment. Among 79 Korean wheat varieties and experimental lines 50 lines (63.3%) exhibited a friabilin band and 29 lines (36.7%) did not show a friabilin band. In this study, lines that contained high maximum force and the lower ratio of minimum force to maximum force showed the absence of the friabilin band. Identification of friabilin, which is the product of a major gene, could be applied in the screening procedures of kernel hardness. The single kernel analysis system for friabilin was found to be an easy, simple and effective screening method for early generation materials in a wheat breeding program for quality improvement.

• Korean Journal of Agricultural Science
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• v.45 no.4
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• pp.715-723
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• 2018

The present study was done to investigate the effect of co-culturing muscle satellite cells (MSCs) and intramuscular preadipocytes (IPs) on the differentiation of adipocytes and muscle cells isolated from Korean native cattle. MSCs and IPs were single-cultured in 10% fetal bovine serum/Dulbecco's modified Eagles medium (FBS/DMEM) for 48 h followed by culturing in 5% FBS/DMEM as the growth media. Then, the growth media was replaced by differentiation media composed of 2% FBS/DMEM without any additives for the single- or co-culture of muscle cells and intramuscular adipocytes to induce the differentiation of both cell types. Cell differentiation was measured by morphological investigation and cytosolic enzyme analysis of glycerol-3-phosphate dehydrogenase (GPDH) for the adipocytes and creatine kinase (CK) for the muscle cells. In the morphological test, the presence of muscle cells did not stimulate adipocyte differentiation showing more differentiation of the adipocytes in the single-culture compared to the co-culture condition. However, the differentiation of muscle cells was promoted by adipocytes in the co-culture. The results of the enzymatic analysis were highly associated with the morphological results with a statistically higher GPDH activity (p < 0.05) appearing in the single-culture than in the co-culture, whereas the opposite was true for the CK activity of the muscle cells (p < 0.05). By manipulating in vivo the milieu using a co-culture, we could detect the difference in the rate of cell differentiation and suggest that a co-culture system is a more reliable and precise technique compared to a single-culture. Further studies on various co-culture trials including supplementation of differentiating substances, gene expression analysis, etc. should be done to obtain practical and fundamental data.

• Korean Journal of Biological Psychiatry
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• v.25 no.4
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• pp.101-109
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• 2018

Objectives According to previous studies, the Chromogranin B (CHGB) gene could be an important candidate gene for schizophrenia which is located on chromosome 20p12.3. Some studies have linked the polymorphism in CHGB gene with the risk of schizophrenia. Meanwhile, smooth pursuit eye movement (SPEM) abnormality has been regarded as one of the most consistent endophenotype of schizophrenia. In this study, we investigated the association between the polymorphisms in CHGB gene and SPEM abnormality in Korean patients with schizophrenia. Methods We measured SPEM function in 24 Korean patients with schizophrenia (16 male, 8 female) and they were divided according to SPEM function into two groups, good and poor SPEM function groups. We also investigated genotypes of polymorphisms in CHGB gene in each group. A logistic regression analysis was performed to find the association between SPEM abnormality and the number of polymorphism. Results The natural logarithm value of signal/noise ratio (Ln S/N ratio) of good SPEM function group was $4.19{\pm}0.19$ and that of poor SPEM function group was $3.17{\pm}0.65$. In total, 15 single nucleotide polymorphisms of CHGB were identified and the genotypes were divided into C/C, C/R, and R/R. Statistical analysis revealed that two genetic variants (rs16991480, rs76791154) were associated with SPEM abnormality in schizophrenia (p = 0.004). Conclusions Despite the limitations including a small number of samples and lack of functional study, our results suggest that genetic variants of CHGB may be associated with SPEM abnormality and provide useful preliminary information for further study.nwhile, smooth pursuit eye movement (SPEM) abnormality has been regarded as one of the most consistent endophenotype of schizophrenia. In this study, we investigated the association between the polymorphisms in CHGB gene and SPEM abnormality in Korean patients with schizophrenia. MethodsZZWe measured SPEM function in 24 Korean patients with schizophrenia (16 male, 8 female) and they were divided according to SPEM function into two groups, good and poor SPEM function groups. We also investigated genotypes of polymorphisms in CHGB gene in each group. A logistic regression analysis was performed to find the association between SPEM abnormality and the number of polymorphism. ResultsZZThe natural logarithm value of signal/noise ratio (Ln S/N ratio) of good SPEM function group was $4.19{\pm}0.19$ and that of poor SPEM function group was $3.17{\pm}0.65$. In total, 15 single nucleotide polymorphisms of CHGB were identified and the genotypes were divided into C/C, C/R, and R/R. Statistical analysis revealed that two genetic variants (rs16991480, rs76791154) were associated with SPEM abnormality in schizophrenia (p = 0.004). ConclusionsZZDespite the limitations including a small number of samples and lack of functional study, our results suggest that genetic variants of CHGB may be associated with SPEM abnormality and provide useful preliminary information for further study.

• Korean Journal of Ichthyology
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• v.17 no.1
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• pp.49-56
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• 2005

The full sequence analysis of 16 different $\beta-actin$ genes isolated from a single Rivulus marmoratus was performed. The numbers of isolated $\beta-actin$ genes varied from 1764 to 1769. They showed different amino acid residues at the exon 1 region. We named this new gene R. marmoratus $\beta-actin$ 2 gene. Intraspecific variation of R. marmoratus $\beta-actin$ 2 gene was also examined. Major differences of 16 isolated $\beta-actin$ genes, compared to already reported R. marmoratus $\beta-actin$ gene (GenBank AF168615), were observed in both deduced amino acid sequences (1~2%) and intron 2 sequences (4~5%). In this paper, we confirmed the intraspecific variation of $\beta-actin$ gene in this species.