• Journal of Physiology & Pathology in Korean Medicine
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• v.22 no.4
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• pp.993-999
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• 2008

Ischemic brain injury such as cerebral infarction is characterized by acute local inflammatory response mediated by cytokines. The mechanism of cytokines involved in cerebral infarction progression are uncompletely revealed yet. We investigated to find out the relationship between single nucleotide polymorphism (SNP) of interleukin 4 receptor(IL4R) and Oriental Medicine therapy efficacy in patients with cerebral infarction for 2 weeks. Oriental Korean Medicine therapies (herbal medicine and acupuncture) were applied daily and motor functions of patients were assessed using the modified cerebral vascular accident (MCVA) scores. Genotyping for IL4R polymorphism was done by pyrosequencing analysis. In IL4R genotypes and the frequency of alleles, there was no significant difference between cerebral infarction patients (n=124) and controls group (n=175). And there was also no significant difference among good and bad responders in cerebral infarction patients. In this study the IL4R genotype might not be the risk factor or a good predictive genetic marker for good and bad responders in cerebral infarction patients in Korean. Further studies including different cytokine genes will be necessary for the exact genetic markers.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.17 no.4
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• pp.239-247
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• 2014

Purpose: There are no studies of hepatic glycogen storage diseases (GSDs) other than type I and III in Korea. We aimed on investigating the characteristics of hepatic GSDs in Korea diagnosed and followed at a single center. Methods: We retrospectively analyzed patients who were diagnosed as GSD and followed at Samsung Medical Center from January, 1997 to December, 2013. Clinical manifestations, laboratory results, treatment, and prognosis were investigated. Results: Twenty-one patients were included in the study. The types of 17 patients were confirmed by enzyme activity tests and/or gene analysis. GSD Ia was diagnosed in 7 patients (33.3%), Ib in 1 patient (4.8%), III in 2 patients (9.5%), IV in 1 patient (4.8%), and IX in 6 patients (28.6%). Types other than GSD I constituted 52.9% (9/17) of the patients diagnosed with a specific type of hepatic GSD. The median age at presentation was 2 years. Hepatomegaly was observed in 95.2%, elevated liver transaminases in 90.5%, and hyperlactacidemia in 81.0% of the patients. The duration for follow-up was $77{\pm}62.0$ months. Uncooked corn starch was initiated in all the patients. No mortality was observed during the follow-up period, and liver transplantation was performed in 14.3%. Conclusion: Types other than GSD I comprised more than half of the patients diagnosed with a specific type of hepatic GSD. Clinical suspicion and thorough evaluation of hepatic GSDs in Korea should be focused not only on GSD I, but also on other types.

• The Journal of Internal Korean Medicine
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• v.31 no.4
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• pp.752-762
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• 2010

Objective : In the present study, we investigated genetic distribution of eight single nucleotide polymorphisms of PON1 between Dampness and Phlegm and non Dampness and Phlegm pattern identification(PI) among Korean stroke patients. Materials and Methods : One hundred forty stroke subject without Dampness and Phlegm and fifty eight stroke subjects with Dampness and Phlegm were participated in this study. After informed consents, eight single nucleotide polymorphisms(SNPs) in PON1 of each subjects were identified by DNA sequencing and primer extension method and statistical analysis was performed to determine the significant difference between Dampness and Phlegm and non Dampness and Phlegm groups. Results : Among anthropometric characteristics and blood parameters, waist circumference and total cholesterol were significantly higher in Dampness and Phlegm. Among 8 SNPs of PON1, frequency of M allele and subjects with M allele in L55M SNP were significantly higher in Dampness and Phlegm group (p=0.0032 and p=0.0053, respectively) but subjects with T allele in C-2033T SNP were lower in Dampness and Phlegm group(p=0.0302). Effect of L55M and C-2033T on Dampness and Phlegm were 3.07% and 1.75%, respectively. Conclusion : Our results suggest that L55M SNP in exon and C-2033T in promoter region of PON1 maybe affect to Dampness and Phlegm pattern identification. However, further study should be carried out to find out the detailed mechanism how L55M and C-2033T can affect Dampness and Phlegm stroke patients.

• The Journal of Korean Medicine
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• v.25 no.2
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• pp.207-219
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• 2004

Objectives : We investigated to find the relationship between single-nucleotide polymorphism (SNP) of IL4R, IL-10 and bee venom therapy efficacy in patients with RA treated with bee venom for 8 weeks. Methods : Korean RA patients (n=114) and healthy subjects (n=109) were included in this prospective study. Korean bee venom was dissolved in saline (diluted 1:3000) and administrated into acupuncture points. Bee venom therapy was applied twice a week and continued for 8 weeks. The clinical response was evaluated using various assessments before and after treatment. Disease severity was measured by determining the number of tender joints and swollen joints. Laboratory studies included ESR, CRP, and rheumatoid factor. Genotyping for IL-4R and IL-10 polymorphism was done by pyrosequencing analysis. Results : 1. In IL4R genotypes, there was significant difference between RA ptitients tind controls group. 2. In IL4R genotypes, there was significant difference among Good, Mild and Bad responders to in RA patients, but in the frequency of alleles and carriers, there were no significant difference. 3. There was no significant difference between RA patients and controls group in IL-10 gene genotypes. 4. In IL-10 genotypes, there was no significant difference among Good, Mild and Bad responders to in RA patients. 5. There was no significant difference in the improvement of ESR, CRP and KHAQ scores after bee venom therapy in RA patients among the IL4R or IL-10 genotypes. Conclusions : In IL-4R genotypes, there was significant difference between RA patients and control group, and among Good, Mild and Bad responders in RA patients. However, in IL-10 genotypes, there was no significant difference between RA patients and controls group and among Good, Mild and Bad responders in RA patients.

• Journal of Sericultural and Entomological Science
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• v.42 no.1
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• pp.14-23
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• 2000

The mitochondrial genome of domesticated silkworm (Bombyx mori) was mapped with five restriction endonucleases (BamHI, EcoRI, HindIII, PstI and XbaI), the entire genome was cloned with HindIII and EcoRI. From the end sequencing results of 5$^1$and 3$^1$region for full genome set of eleven mitochondrial clones, the seven mitochondrial genes (NADH dehydrogenase 6, ATPase 6, ATPase 8, tRN $A^{Lys}$, tRN $A^{Asp}$, tRN $A^{Thr}$ and tRN $A^{Phe}$ of mori were identified on the basis of their nucleotide sequence homology. The nucleotide composition of NADH dehydrogenase 6 was heavily biased towards adenine and thymine, which accounted for 87.76%. On basis of the sequence similarity with published tRNA genes from six insect species, the tRN $A^{Lys}$, tRN $A^{Asp}$ and tRN $A^{Thr}$ were showed stable canonical clover-leaf tRNA structures with acceptible anticodons. However, both the DHU and T$\psi$C arms of tRN $A^{Phe}$ could not form any stable stem-loop structure. The two overlapping gene pairs (tRN $A^{Lys}$ -tRN $A^{ASP}$ and ATPase8-ATPase6) were found from our sequencing results. The genes are encoded on the same strad. ATPase8 and ATPase6 overlaps (ATGATAA) which are a single example of overlapping events between abutted protein-coding genes are common, and there is evidence that the two proteins are transcribed from a single bicistronic message by initiation at 5$^1$terminal start site for ATPase8 and at an internal start site for ATPase6. Ultimately, this result will provide assistance in designing oligo-nucleotides for PCR amplification, and sequencing the specific mitochondrial genes for phylogenetics of geographic races, genetically improved silkworm strains and wild silkworm (mandarina) which is estimated as ancestal of domesticated silkworm.sticated silkworm.

• Asian-Australasian Journal of Animal Sciences
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• v.27 no.9
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• pp.1263-1269
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• 2014

Comprehensive information on genetic diversity and introgression is desirable for the design of rational breed improvement and conservation programs. Despite the concerns regarding the genetic introgression of Western pig breeds into the gene pool of the Korean native pig (KNP), the level of this admixture has not yet been quantified. In the present study, we genotyped 93 animals, representing four Western pig breeds and KNP, using the porcine SNP 60K BeadChip to assess their genetic diversity and to estimate the level of admixture among the breeds. Expected heterozygosity was the lowest in Berkshire (0.31) and highest in Landrace (0.42). Population differentiation ($F_{ST}$) estimates were significantly different (p<0.000), accounting for 27% of the variability among the breeds. The evidence of inbreeding observed in KNP (0.029) and Yorkshire (0.031) may result in deficient heterozygosity. Principal components one (PC1) and two (PC2) explained approximately 35.06% and 25.20% of the variation, respectively, and placed KNP somewhat proximal to the Western pig breeds (Berkshire and Landrace). When K = 2, KNP shared a substantial proportion of ancestry with Western breeds. Similarly, when K = 3, over 86% of the KNP individuals were in the same cluster with Berkshire and Landrace. The linkage disquilbrium (LD) values at $r^2_{0.3}$, the physical distance at which LD decays below a threshold of 0.3, ranged from 72.40 kb in Landrace to 85.86 kb in Yorkshire. Based on our structure analysis, a substantial level of admixture between Western and Korean native pig breeds was observed.

• Korean Journal of Plant Resources
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• v.24 no.5
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• pp.584-590
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• 2011

Wound inducible P450-Esg cDNA, one of cytochrome P450 gene family, was isolated from shoot of Euiseong garlic cultivar. P450-Esg cDNA possesses highly conserved heme-binding domain in the nucleotide sequence, and 1,419 bp of open reading frame (ORF) coding of 473 amino acids. Based on the nucleotide sequence analysis of P450-Esg homologous from twelve garlic cultivars, two domains, one domain between 472 to 510 bp, and the other between 1,210 to 1,249 bp from start codon (ATG), showed various nucleotide polymorphism among cultivars. Sequence of heme-binding domain in P450-Esg homologous, which is located at the domain between 1,210 to 1,240 bp from start codon, showed various nucleotide polymorphism as well as amino acid sequence polymorphism among twelve garlic cultivars. Anther domain, between 472 to 510 bp from start codon, showed exactly same amino acid sequence in the twelve garlic cultivars, but there were various single nucleotide polymorphism to the cultivars.

• Proceedings of the Plant Resources Society of Korea Conference
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• 2018.10a
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• pp.64-64
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• 2018

The genus Cenchrus (Poaceae), containing ca. 97 species, is distributed throughout Australia, Africa and Indian sub-continent and which was introduced to the United States and Mexico for use in improved pasture. In Korea, especially Daecheong Island, it is one of the most hazardous invasive plant, which causes serious environmental threats, biodiversity damages and physically negative impact on humans and animals. It can cause serious damage to farms, fields and white sand beaches. However, the chloroplast (cp) genome sequences and information of Cenchrus longispinus have been not addressed, so we provide the complete cp genome of Cenchrus longispinus using next-generation sequencing technology. The size of cp genomes of this Daecheong Island species (Cenchrus longispinus) is 137,144 bp, and it shows a typical quadripartite structure. Consisting of the large single copy (LSC; 80,223 bp), small single copy (SSC; 12,449 bp), separated by a pair of inverted repeats (IRs; 22,236 bp). This cp genome contains 75 unique genes, 4 rRNA coding genes, 33 tRNA coding genes and 21 duplicated in the IR regions, with the gene content and organization are similar to other Poaceae cp genomes. Our comparative analysis identified four cpDNA regions (rpl16, rbcL, ndhH and ndhF) from three Cenchrus species, two Setaria species and one Pennisetum species which may be useful for molecular identification.

• Genomics & Informatics
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• v.11 no.3
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• pp.129-134
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• 2013

Orthostatic hypotension (OH) is defined by a 20-mm Hg difference of systolic blood pressure (dtSBP) and/or a 10-mm Hg difference of diastolic blood pressure (dtDBP) between supine and standing, and OH is associated with a failure of the cardiovascular reflex to maintain blood pressure on standing from a supine position. To understand the underlying genetic factors for OH traits (OH, dtSBP, and dtDBP), genome-wide association studies (GWASs) using 333,651 single nucleotide polymorphisms (SNPs) were conducted separately for two population-based cohorts, Ansung (n = 3,173) and Ansan (n = 3,255). We identified 8 SNPs (5 SNPs for dtSBP and 3 SNPs for dtDBP) that were repeatedly associated in both the Ansung and Ansan cohorts and had p-values of < $1{\times}10^{-5}$ in the meta-analysis. Unfortunately, the SNPs of the OH case control GWAS did not pass our p-value criteria. Four of 8 SNPs were located in the intergenic region of chromosome 2, and the nearest gene (CTNNA2) was located at 1 Mb of distance. CTNNA2 is a linker between cadherin adhesion receptors and the actin cytoskeleton and is essential for stabilizing dendritic spines in rodent hippocampal neurons. Although there is no report about the function in blood pressure regulation, hippocampal neurons interact primarily with the autonomic nervous system and might be related to OH. The remaining SNPs, rs7098785 of dtSBP trait and rs6892553, rs16887217, and rs4959677 of dtDBP trait were located in the PIK3AP1 intron, ACTBL2-3' flanking, STAR intron, and intergenic region, respectively, but there was no clear functional link to blood pressure regulation.

• Asian-Australasian Journal of Animal Sciences
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• v.29 no.9
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• pp.1353-1362
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• 2016

Hanwoo, a Korean native cattle (Bos taurus coreana), has great economic value due to high meat quality. Also, the breed has genetic variations that are associated with production traits such as health, disease resistance, reproduction, growth as well as carcass quality. In this study, next generation sequencing technologies and the availability of an appropriate reference genome were applied to discover a large amount of single nucleotide polymorphisms (SNPs) in ten Hanwoo bulls. Analysis of whole-genome resequencing generated a total of 26.5 Gb data, of which 594,716,859 and 592,990,750 reads covered 98.73% and 93.79% of the bovine reference genomes of UMD 3.1 and Btau 4.6.1, respectively. In total, 2,473,884 and 2,402,997 putative SNPs were discovered, of which 1,095,922 (44.3%) and 982,674 (40.9%) novel SNPs were discovered against UMD3.1 and Btau 4.6.1, respectively. Among the SNPs, the 46,301 (UMD 3.1) and 28,613 SNPs (Btau 4.6.1) that were identified as Hanwoo-specific SNPs were included in the functional genes that may be involved in the mechanisms of milk production, tenderness, juiciness, marbling of Hanwoo beef and yellow hair. Most of the Hanwoo-specific SNPs were identified in the promoter region, suggesting that the SNPs influence differential expression of the regulated genes relative to the relevant traits. In particular, the non-synonymous (ns) SNPs found in CORIN, which is a negative regulator of Agouti, might be a causal variant to determine yellow hair of Hanwoo. Our results will provide abundant genetic sources of variation to characterize Hanwoo genetics and for subsequent breeding.