• Journal of Life Science
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• v.22 no.8
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• pp.1057-1063
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• 2012

Epilepsy is the most prevalent chronic neurological disorder and can be controlled by antiepileptic drugs (AEDs) in up to 70% of patients. We performed an association study between adverse drug reactions and the genetic polymorphisms of CYP2C9, CYP2C19, ABCB1, and SCN1A. The clinical data of 83 epilepsy patients who had received AEDs containing carbamazepine (CBZ) were collected. We extracted genomic DNA from peripheral blood and then genotyped CYP2C9 ($CYP2C9^*2$, $CYP2C9^*3$), CYP2C19 ($CYP2C9^*2$, $CYP2C9^*3$), ABCB1 (C3435T), and SCN1A (IVS5N+5 G>A) using direct sequencing. The allele frequencies of $CYP2C9^*3$, $CYP2C9^*2$, $CYP2C9^*3$, ABCB1 (3435C>T), and SCN1A (IVS5N+5 G>A) were 0.93, 0.72, 0.91, 0.61, and 0.55, respectively. Statistically significant differences were indicated from the data obtained. Patients with SCN1A genotype CC or CT were compared with patients with SCN1A genotype TT while using more than 500mg of carbamazepine. We have associated functional polymorphisms with the dose used in regular clinical practice for Korean epilepsy patients who had received antiepileptic drugs (AEDs) containing carbamazepine. For AEDs, we found that one of the SCN1A genotypes is associated with a 500 mg dose. There was no association found with CNS ADR caused by AEDs.

• Korean Journal of Clinical Laboratory Science
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• v.49 no.4
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• pp.401-406
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• 2017

In this study, using the VITEK 2 system, 74 samples (22.6%) out of 327 specimens were identified by the growth of Enterococcosel media (EV6 agar) supplemented with $6{\mu}g/mL$ of vancomycin. Enterococcus faecium was identified as 55 strains (74.3%), Enterococcus casseliflavus as 2 strains (2.7%), Enterococcus avium as 1 strain (1.4%), and Enterococcus gallinarum as 16 strains (21.6%). Among the 55 phenotypes of Enterococcus faecium, 42 (76.4%), 9 (16.4%), and 4 strains (7.3%) showed the vanA, vanB, and vanC phenotype, respectively. The 16 strains of Enterococcus gallinarum and 2 strains of Enterococcus casseliflavus showed the vanC phenotype and the 1 strain of Enterococcus avium had the vanB phenotype. The one strain of Enterococcus faecium propagated only in EV4 and was susceptible to both vancomycin and teicoplanin according to the antimicrobial susceptibility test using the VITEK 2 system. The vancomycin resistance phenotype gene was not detected by PCR. A total of 327 specimens were cultured in Enterococcosel broth supplemented with $6{\mu}g/mL$ of vancomycin (EV6 broth), and 120 strains (36.7%) were isolated. These 120 strains were subjected to vancomycin resistant genotyping by a multiplex real-time polymerase chain reaction and 51 strains (42.5%) showed vanA; 5 strains (4.2%) showed vanA and vanC; and 18 strains (15%) showed vanC. Vancomycin resistance genotypes were not detected in the remaining 46 strains (38.3%).

• Childhood Kidney Diseases
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• v.8 no.1
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• pp.26-32
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• 2004

Purpose : Hypercoagulability is present in patients with nephrotic syndrome. Plasminogen activator inhibitor type 1(PAI-1) is a major inhibitor of plasminogen activators. PAI-1 inactivates both tissue plasminogen activator(tPA) and urokinase plasminogen activator(uPA) by rapid formation of inactive 1:1 stoichiometric complexes. Recently some studies showed that the enhanced PAI-1 expression may be involved in the intraglomerular fibrinogen/fibrinrelated antigen deposition seen in nephrotic syndrome. Methods : PAI-1 gene promoter -844(G/A) polymorphism was evaluated in 146 children with minimal change nephrotic syndrome(MCNS) and 230 control subjects. The patients with MCNS were subdivided into 85 infrequent-relapser(IR) group and 61 frequent relapser(FR) group. PCR of PAI-1 gene promoter region including -844(G/A) and RFLP using the restriction enzyme Xhol were performed for each DNA samples extracted from the groups. Results : The distribution of PAI-1 genotype in the control group was G/G 81(32.5%), A/A 42(16.9%), and G/A 126(50.6%). The distribution of PAI-1 genotypes in the IR group of MCNS was G/G 29(34.1%), A/A 15(17.7%), and G/A 41(48.2%). The distribution of PAI-1 genotype in the FR group of MCNS was G/G 17(27.9%), A/A 18(29.5%), and G/A 26(42.6%). There was a significantly increased frequency of A/A genotype(P=0.0251) in the FR group of MCNS. Conclusion : Our results indicate that the PAI-1 gene promoter A/A genotype may be associated with the FR in MCNS.

• Childhood Kidney Diseases
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• v.8 no.1
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• pp.10-17
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• 2004

Purpose : $Henoch-Sch\"{o}nlein$ purpura(HSP) nephritis has a variable range of prevalence from 25 to 50% among HSP patients and is a common cause of chronic glomerulonephritis in children. In our study, we evaluated the distribution and the association of the angioten-sinogen(AGT) M235T polymorphism with the clinical manifestations, particularly proteinuria in children with HSP with or without nephritis. Methods : The AGT M235T polymorphism was determined in children with HSP nephritis (n=33) or HSP without nephritis(n=28) who had been diagnosed at Busan Paik hospital from January 1996 to June 2001. The M235T polymorphism of the AGT gene was determined by PCR amplification of the genomic DNA. Results : The M235T polymorphism of AGT gene frequency was MM 75%, MT : 25%, TT : 0% in HSP and MM : 64%, MT : 36%, TT : 0% in HSP nephritis, there was no significant differences in the genotype and allele frequencies between the two groups. No significant differences in clinical manifestations at onset and last follow-up were seen between the two genotypes. When statistical analysis was done according to the presence of the M allele, the amount of 24-hour urinary protein excretion and the incidence of moderate to heavy proteinuria(>500 $mg/m^2/day$) at onset and at last follow-up were higher in the MT genotype than in those of in the MM genotype but these difference were not statistically significant. Conclusion : We suggest a lack of association between M235T polymorphism of the AGT gene and clinical manifestations in children with HSP nephritis. However, further follow-up studies based on sufficient number of patients and long term follow up periods are necessary to confirm the role of M235T polymorphism of AGT gene in children with HSP nephritis.

• Journal of Animal Science and Technology
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• v.53 no.5
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• pp.389-395
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• 2011

This study was conducted to investigate the combined effect of fatty acid synthase (FASN) and Acetyl CoA Carboxylase-${\alpha}$ (ACACA) genes on carcass traits of Korean cattle (Hanwoo). A total of 1,057 commercial Hanwoo cattle provided by the NongHyup Livestock Research Center (NLRC) and Hanwoo Performance Competition (HPC) were used to analyze the effect of four single nucleotide polymorphisms (SNPs) within FASN (g.11280A>G, g.16024A>G, g.16039T>C, and g.17924A>G) and one SNP within ACACA (g.2274G>A) genes. In addition, the effect of genotypic combinations between FASN (g.17924A>G) and ACACA (g.2274G>A) SNPs has been studied with carcass traits. Significant associations were identified between g.17924A>G of FASN and carcass weight and back fat, and between the ACACA gene SNP g.2274G>A and longissimus muscle area with HPC samples. It was also found that both effects of FASN g.17924A>G and ACACA g.2274G>A polymorphisms were consistent in NLRC samples. Combined analyses of both NLRC and HPC samples also revealed the significant associations between the FASN g.17924A>G and carcass weight and back fat and between the ACACA g.2274G>A and back fat, respectively. The effect of the genotypic combination of g.17924A>G within FASN and g.2274G>A within ACACA genes showed that the combination of both GG genotypes of FASN and ACACA SNPs causes higher carcass weight and marbling score. The results of this study indicate that the two SNP markers within the FASN and ACACA genes can be utilized to select superior Hanwoo cows and calves in commercial Hanwoo farms.

• KOREAN JOURNAL OF CROP SCIENCE
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• v.60 no.4
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• pp.448-457
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• 2015

Developing rice lines with various amylose contents is necessary to diverse usages of rice in terms of raw materials for processed food production, and thereby to promote rice consumption in Korea. A rice mutant line, 'Namil(SA)-dull1' was established through sodium azide mutagenesis on 'Namil', a non-glutinous Korean Japonica rice cultivar. Namil(SA)-dull1' had dull endosperm characteristics and the evaluated amylose content was 12.2%. A total of 94 F2 progenies from a cross between 'Namil(SA)-dull1' and 'Milyang23', a non-glutinous Tongil-type rice cultivar, was used for genetic studies on the endosperm amylose content. Association analyses, between marker genotypes of 53 SSR anchor markers and evaluated amylose contents of each 94 F2:3 seeds, initially localized rice chromosome 6 as the harboring place for the modified allele(s) directing low amylose content of 'Namil(SA)-dull1'. By increasing SSR marker density on the putative chromosomal region followed by association analyses, the target region was narrowed down 0.94 Mbp segment, expanding from 28.95 Mbp to 29.89 Mbp, on rice chromosome 6 pseudomolecule. Among the SSR loci, RM7555 explained 84.2% of total variation of amylose contents in the $F_2$ population. Further physical mapping on the target region directing low amylose content of 'Namil(SA)-dull1' would increase the breeding efficiency in developing promising rice cultivars with various endosperm characteristics.

• 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 Animal Science and Technology
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• v.46 no.6
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• pp.947-956
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• 2004

The primary role of lipoprotein lipase(LPL) is the hydrolysis of triglycerides(TG) from the core of triglyceride-rich lipoproteins such as chylomicrons and very low density lipoproteins in plasma. Fatty acids liberated by LPL on capillary endothelial surfaces are available for tissues as energy sources especially in muscles or for storage in the form of TG in adipose tissues. Therefore, as the candidate gene related to the carcass traits of the beef cattle, we have directly sequenced the exon 5${\sim}$exon 6 region in the bovine LPL gene for discovery of single nucleotide polymorphism(SNP) with 24 unrelated Hanwoo(Korean cattle). Novel eight sequence variants were detected: three loci on exon 5, three on intron 5 and two on exon 6. All SNPs identified were strongly linked each other, and one hundred twenty eight Hanwoo samples were genotyped one SNP on intron 5 using PCR-restriction fragment length polymorphism method by digestion with Hae III restriction enzyme. The allele frequency of the polymorphism was 0.76 and 0.24. The effects of this polymorphism on the breeding values of the carcass weight, loin muscle area, back fat thickness and marbling score were analyzed using least square methods of SAS GLM. The marbling score of BB genotype was significantly higher than those of AA and AB genotypes(P<0.05). This result indicates that this polymorphism may be associated with the variation of marbling score. Further study is warranted to investigate the phenotypic association in Hanwoo.

• Journal of Animal Science and Technology
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• v.55 no.3
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• pp.165-171
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• 2013

Genomic relationship matrix (GRM) was constructed using whole genome SNP markers of swine and genomic breeding value was estimated by substitution of the numerator relationship matrix (NRM) based on pedigree information to GRM. Genotypes of 40,706 SNP markers from 448 pure Landrace pigs were used in this study and five kinds of GRM construction methods, G05, GMF, GOF, $GOF^*$ and GN, were compared with each other and with NRM. Coefficients of GOF considering each of observed allele frequencies showed the lowest deviation with coefficients of NRM and as coefficients of GMF considering the average minor allele frequency showed huge deviation from coefficients of NRM, movement of mean was expected by methods of allele frequency consideration. All GRM construction methods, except for $GOF^*$, showed normally distributed Mendelian sampling. As the result of breeding value (BV) estimation for days to 90 kg (D90KG) and average back-fat thickness (ABF) using NRM and GRM, correlation between BV of NRM and GRM was the highest by GOF and as genetic variance was overestimated by $GOF^*$, it was confirmed that scale of GRM is closely related with estimation of genetic variance. With the same amount of phenotype information, accuracy of BV based on genomic information was higher than BV based on pedigree information and these symptoms were more obvious for ABF then D90KG. Genetic evaluation of animal using relationship matrix by genomic information could be useful when there is lack of phenotype or relationship and prediction of BV for young animals without phenotype.

• Journal of Animal Science and Technology
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• v.55 no.3
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• pp.185-194
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• 2013

Microsatellite markers have been a useful genetic tool in determining diversity, relationships and individual discrimination studies of livestock. The level of genetic diversity, relationships among two Korean indigenous chicken brand populations (Woorimatdag: WR, Hanhyup3: HH) as well as two pure populations (White Leghorn: WL, Rhode Island Red: RIR) were analyzed, based on 26 MS markers. A total of 191 distinct alleles were observed across the four chicken populations, and 47 (24.6%) of these alleles were unique to only one population. The mean $H_{Exp}$ and PIC were estimated as 0.667 and 0.630. Nei's $D_A$ genetic distance and factorial correspondence analysis (FCA) showed that the four populations represented four distinct groups. However, the genetic distance between each Korean indigenous chicken brand (WR, HH) and the pure population (WL, RIR) were threefold that among the WR and HH. For the STRUCTURE analyses, the most appropriate number of clusters for modeling the data was determined to be three. The expected probabilities of identity among genotypes of random individuals (PI) were calculated as $1.17{\times}10^{-49}$ (All 26 markers) and $1.14{\times}10^{-15}$, $7.33{\times}10^{-20}$ (9, 12 with the highest PI value, respectively). The results indicated that the brand chicken breed traceability system employing the own highest PI value 9 to 12 markers, and might be applicable to individual identification of Korean indigenous chicken brand.