• Journal of Genetic Medicine
• /
• v.4 no.2
• /
• pp.160-166
• /
• 2007

Purpose : The ${\beta}$-adrenoceptors are pharmacologically classified into ${\beta}_1$-, ${\beta}_2$- and ${\beta}_3$-adrenoceptor. The gene of each subtype has polymorphisms related to their function (${\beta}_1$-adrenoceptor: Ser49Gly, ${\beta}_2$-adrenoceptor: Gln27Glu, ${\beta}_3$-adrenoceptor: Trp64Arg). The objectives of this study were to analyse the allelic and genotypic distribution of the representative polymorphism of ${\beta}$-adrenoceptors in preeclampsia and to investigate whether combined genotype of ${\beta}$-adrenoceptors may be associated with preeclampsia. Methods : Blood samples were collected from a Korean population (159 preeclamptic pregnancies and 168 normotensive pregnancies). The ${\beta}_1$-, ${\beta}_2$- and ${\beta}_3$-adrenoceptor genotypes was determined using polymerase chain reaction-restriction fragment length polymorphism. Results : There were no differences in allelic and genotypic distribution of ${\beta}_1$- and ${\beta}_2$-adrenoceptor polymorphisms between the two groups. However, the Arg allele of ${\beta}_3$-adrenoceptor polymorphism were more frequent in preecalmpsia than in controls (P<0.05, OR=1.57, 95% CI=1.01-2.46). Moreover, prevalence of genotype carrying heterozygote of ${\beta}_3$-adrenoceptor polymorphism was increased in preeclampsia compared with controls (P<0.05, OR 1.76, 95% CI 1.06-2.92). When combination of the three polymorphisms were evaluated, pregnancies with the particular combined genotype that is consisted of heterozygote of ${\beta}_1$-, ${\beta}_3$-adrenoceptor and wild homozygote of ${\beta}_2$-adrenoceptor (Ser/Gly, Gln/Gln, Trp/Arg), showed a significant increase in the risk of preeclampsia (P<0.05, OR=3.01, 95% CI 1.12-8.08). Conclusion : A particular combined genotype (Ser/Gly, Gln/Gln, Trp/Arg) of - adrenoceptors was associated with the risk of preeclampsia.

• Korean Journal of Biological Psychiatry
• /
• v.13 no.3
• /
• pp.178-190
• /
• 2006

Objectives : We investigated the relationship of the alcohol withdrawal symptoms with genetic polymorphism among alcohol dependence patients. Method : The measuring instruments used in this study were the Clinical Institute Withdrawal Assessment for Alcohol(CIWA-Ar). We analyzed DRD2 TaqI A polymorphism, dopamine transporter(DAT 1) polymorphism, and catechol-O-methyltransferase(COMT) polymorphism in 108 male alcoholics and 76 healthy controls. Results : The major findings was as follows. No significant differences for genotype distribution or allele frequency were revealed comparing controls and alcoholic patients. DRD2 Taq I : The subscale score of auditory hallucination among CIWA-Ar scale in homozygote was significantly higher than in heterozygote(OR=1.34). The total score of CIWA-Ar scale in heterozygote was significantly higher than in homozygote. DAT1 : In the subject without DAT-9 gene allele, it was significantly higher of the subscale score of sweating, anxiety among CIWA-Ar scale than in the subject with DAT-9 gene allele. And The total score of CIWA-Ar scale in the subject without DAT-9 gene allele was significantly higher than in the subject with DAT-9 gene allele. COMT : The total score of CIWA-Ar scale in heterozygote was significantly higher than in homozygote. Conclusion : Our results suggest the relationship between specific genetic factors and the withdrawal symptoms of alcohol dependent patients. As the candidate gene of the severity of alcohol withdrawal syndrome, DRD2 Taq1 gene was recommended.

• Journal of Animal Science and Technology
• /
• v.44 no.4
• /
• pp.391-398
• /
• 2002

This study was conducted to determine the polymorphism of transferrin exons 13, 15 and 16 by Single-Strand Conformation Polymorphism(SSCP) analysis and to compare their genotypes of Cheju horse Group I (Cheju Institute), Cheju horse Group II (farms), and Thoroughbred (KRA). SSCP of transferrin exon 13, 15, and 16 showed two (A, B), three (A, B, C) and three (A, B, C) codominant alleles, respectively. The Group I and Thoroughbred showed the similar frequencies of allele A and B in transferrin exon 13, but only allele A was observed in Group Ⅱ. In transferrin exons 15 and 16, the frequencies of each allele were different in each Groups. The multiple allele frequencies in exons 15 and 16 suggested that the genotyping of this locus could be used to identify an individual and to test the parentage of offspring. The probability for parentage exclusion were 0.46 and 0.374 for exons 15 and 16 for Cheju horse Group I. Among the 13 combined genotypes of exons 13, 15 and 16, the genotype AA-AB-AB (0.372) is the most common in Cheju horse Group I, but genotype AA-AA-AA is common in the Cheju horse Group II (0.366) and Thoroughbred (0.767). The present study showed two new SNP, which was at the cDNA position 1626 (A/G) in B allele of the exon 13 and 2075 (C/T) in C allele of the exon 16 resulting in amino acid change (Threonine $\longrightarrow$ Methionine). Result showed that polymorphism of exons 13, 15 and 16 in Cheju horses was as high as in Thoroughbred and there was a differences of transferrin allele frequencies in Cheju horses.

• Clinical and Experimental Pediatrics
• /
• v.51 no.9
• /
• pp.964-970
• /
• 2008

Purpose : Methylmalonic aciduria (MMA) and propionic aciduria (PA) are inborn errors in the catabolism of branched-chain amino acids. The study was undertaken to investigate the genotypes and clinical features of Korean patients with MMA and PA. Methods : This study examined 12 patients with MMA and eight with PA. We analyzed various clinical features, laboratory findings, treatments, and neuro-developmental outcomes. Diagnoses were based on the presence of characteristic compounds detected by amino acid analysis in serum and organic acid analysis in urine. Mutation analysis was performed in the genes of MUT, MMAA, MMAB, and MMACHC for MMA and PCCA and PCCB for PA. Results : Among the 20 patients, six patients were diagnosed before one month of age and nine patients were diagnosed after the newborn period. Five patients were diagnosed via a neonatal screening test. Patients with early-onset forms had more severe illness at presentation and generally poor outcomes. A favorable outcome was obtained in 55% patients; most of them were of a late-onset type or diagnosed by neonatal mass screening test without symptoms. Genotypes were confirmed in all patients with MMA. We detected 11 different mutations by MUT gene analysis in 10 patients, and three different mutations in MMACHC genes in two patients. PCCA and PCCB gene mutations were identified in 14 of the 16 alleles, in eight patients with PA. Conclusion : Organic aciduria is a fatal disease; however, better outcomes are expected whenever early diagnosis and prompt management are made possible. Mutation analysis is useful for confirming diagnoses and planning management strategies.

• Korean Journal of Microbiology
• /
• v.48 no.4
• /
• pp.240-245
• /
• 2012

Pseudomonas aeruginosa is an opportunistic Gram-negative bacterium that causes serious infection, particularly in immunocompromised patients. Also, P. aeruginosa possessing carbapenem-resistant metallo-${\beta}$-lactamases (MBL) has been reported with increasing frequency in Korea. We therefore analyzed the level of multidrug-resistant clinical P. aeruginosa isolated from a secondary hospital in Korea in 2010. A total of 92 isolates of P. aeruginosa were collected from Sahmyook Medical Center in 2010. Susceptibility to antimicrobial agents was determined by analysis of the minimum inhibitory concentration test; the inhibitor-potentiated disk diffusion (IPD) test was performed for MBL detection. RAPD-PCR was used for genotyping to rapidly characterize P. aeruginosa strains isolated from clinical patients. The percentages of non-susceptible isolates were as follows: 40.2% to ceftazidime, 58.7% to meropenem, 56.5% to gentamicin, 46.7% to tobramycin, 62.0% to ciprofloxacin and 97.8% to chloramphenicol. The 29 multidrug-resistant strains were screened by the IPD test: of the 21 PCR-positive isolates, 19 were IPM-1 producers and 2 were VIM-2 producers. Among the 19 IMP-1-producing P. aeruginosa isolates, 16 isolates showed similar patterns, and three different banding patterns were observed. The proportion of IMP-1-producing multidrug-resistant P. aeruginosa from clinical isolates steadily increased in this secondary hospital in Korea in 2010. This study provides information about the antimicrobial-resistant patterns and genotype of multidrug-resistant P. aeruginosa isolated from clinical isolates in Korea, 2010.

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

• Economic and Environmental Geology
• /
• v.51 no.4
• /
• pp.323-343
• /
• 2018

This study defines the mineralogical, micro-textural and geochemical characteristics for the carbonate rocks and discusses the fluids that have affected the depositional environment of the Lower Makgol Formation in Seokgaejae section. Based on analysis of X-ray Diffraction (XRD), Scanning Electron Microscope-Energy Dispersive X-ray Spectrometry (SEM-EDS), Electron Probe Micro Analyzer-Wavelength Dispersive X-ray Spectrometry (EPMA-WDS) and Laser Ablation-Inductively Coupled Plasma-Mass Spectrometry (LA-ICP-MS), carbonate miorofacies in the basal and the lower members of the Makgol Formation are distinguished and classified into four types. Type 1 dolomite (xenotopic interlocking texture) and Type 2 dolomite (idiotopic interlocking texture) have relatively high Mg/Ca ratio, flat REE pattern, low Fe and Mn. Extensively interlocking textures in these dolomites indicate constant supply of Mg ion from hypersaline brine. Type 3 and Type 4 dolomite (scattered and loosely-aggregated texture) have relatively moderate Mg/Ca ratio, MREE enriched pattern, low to high Fe and Mn. These partial dolomitization indicate limited supply of Mg ion under the influx of meteoric water with seawater. Also, the evidence of Fe-bearing minerals, recrystallization and relatively high Fe and Mn in Type 4 indicates the influence of secondary diagenetic fluids under suboxic conditions. Integrating geochemical data with mineralogical and micro-textural evidence, the discrepancy between the basal and the lower members of the Makgol Formation indicates different sedimentary environment. It suggest that hypersaline brine have an influence on the basal member, while mixing meteoric water with seawater have an effect on the lower member of the Makgol Formation.

• Proceedings of the Korean Society for Food Science of Animal Resources Conference
• /
• 2000.11a
• /
• pp.59-75
• /
• 2000

This study was carried out to develop a DNA marker for identifying between Korean cattle (Hanwoo) and other breeds. First experiment was performed to isolate Hanwoo specific DNA marker at sequence characterized amplified regions (SCARs). Five breeds of cattle including Hanwoo, Holstein, Hereford, Angus and Charolais were represented with the from 8 to 20 individuals. Fourteen primers of 300 arbitrary primers of 10 nucleotides showed reproducible polymorphism across the breeds. An amplified band of 0.9 kb in the primer MG-3 showed the specificity to Holstein breed. And MG-6 and MG-12 detected the Hereford and Hanwoo specific markers at the size of 2.0 kb and 1.0 kb, respectively. A 1.0 kb band of MG-12 was cloned and sequenced. A SCAR primer was designed based on the obtained sequences. It was possible to identify the Hanwoo from Holstein breed. Second experiment was carried out to observe the genotype frequencies of MC1R in 1,044 samples of imported beef and eight different cattle breeds including Hanwoo, Holstein, Angus, Brown-Swiss, Charolais, Limousin, Simmental and Hereford. The primers for the amplification of bovine MC1R gene were designed based on a bovine MC1R gene sequence (GenBank accession no.Y19103). A size of 350 bp was amplified by polymerase chain reaction(PCR), digested with two different restriction enzyme, BsrFI and MspA II, and electrophoresed in 2.5% Metaphore agarose gel for determination of genotypes. Genotype frequencies of Hanwoo were 0.10 in E+e and 0.90 in ee. Allele ED was shown in all of Holstein and Angus breeds tested which have black coat color phenotypes. We suggested that SCAR marker and the bovine MC1R gene could be used as a DNA marker for distinguishing beef between Hanwoo and Holstein.

• Tuberculosis and Respiratory Diseases
• /
• v.54 no.5
• /
• pp.485-494
• /
• 2003

Background : Most previous studies regarding the role of GSTMl and GSTT1 on lung cancer risk have been focused mainly on male smokers. However, epidemiological characteristics, histologic types and risk factors are different in female and male lung cancers, we investigated the association between these genotypes and lung cancer risk in males and females separately. Materials and Methods : The study population consisted of 253 lung cancer (153 males and 100 females) and 243 controls (140 males and 103 females). GSTM1 and GSTT1 genotypes were determined by a multiplex PCR. Results : In the male population, neither GSTM1 nor GSTT1 null genotype showed significant difference between cases and controls. In the female population, the frequencies of GSTM1 null genotype showed no significant difference between cases and controls. However, the frequencies of GSTT1 null genotype was significantly higher in cases (70.3%) than controls (55.3%, odds ratio (OR)=2.18; 95% confidence interval (CI=l.21-3.93). When the female population was stratified by age and smoking status, the ORs for GSTT1 null genotype were significantly higher in subgroups of ${\leq}60$ years (OR=4.82; 95% CI=l.61-14.4) and never-smokers (OR=4.29; 95% CI=1.94-9.48) but not in subgroups of >60 years or smokers. When stratifying the female never-smokers by age, the ORs for GSTT1 null genotype were significantly higher in both age groups of ${\leq}60$ years (OR=7.64; 95% CI=2.00-29.2) and >60 years (OR=2.89; 95% CI=1.05-7.94). Conclusion : We found that GSTT1 null genotype was associated with an increased risk of lung cancer in Korean female never-smokers. This result suggests that GSTT1 null genotype could be used as a biomarker for genetic susceptibility to lung cancer in Korean female never-smokers.

• Journal of Life Science
• /
• v.28 no.11
• /
• pp.1255-1261
• /
• 2018

Whole genome analysis have been made possible with the development of DNA sequencing technologies and discovery of many single nucleotide polymorphisms (SNPs). Large number of SNP can be analyzed with SNP chips, since SNPs of human as well as livestock genomes are available. Among the various missing nucleotide imputation programs, Minimac3 software is suggested to be highly accurate, with a simplified workflow and relatively fast. In the present study, we used Minimac3 program to perform genomic missing value substitution 1,226 animals 770K SNP chip and imputing missing SNPs with next generation sequencing data from 311 animals. The accuracy on each chromosome was about 94~96%, and individual sample accuracy was about 92~98%. After imputation of the genotypes, SNPs with R Square ($R^2$) values for three conditions were 0.4, 0.6, and 0.8 and the percentage of SNPs were 91%, 84%, and 70% respectively. The differences in the Minor Allele Frequency gave $R^2$ values corresponding to seven intervals (0, 0.025), (0.025, 0.05), (0.05, 0.1), (0.1, 0.2), (0.2, 0.3). (0.3, 0.4) and (0.4, 0.5) of 64~88%. The total analysis time was about 12 hr. In future SNP chip studies, as the size and complexity of the genomic datasets increase, we expect that genomic imputation using Minimac3 can improve the reliability of chip data for Hanwoo discrimination.