• Journal of Animal Science and Technology
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• v.46 no.3
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• pp.295-300
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• 2004

The identification of the leptin gene in 1994 and it's adipocytes specific protein leptin hal provided the first physiological links to the regulatory system controlling body weight and fat deposits. The meat tastes is mainly determined by quantifY and quality of triglyceride stored in adipose tissue. This study was conducted to analyze genetic cbaracteristics of Hanwoo leptin gene and also to investigate the association of DNA marlcer with some economic meat traits for Hanwoo. The leptin hormone gene polymorphisms were identified by digestion with Kpn2 I and Msp I. Slaughter weight(SWI), slaughter peroentage(SP), longissimus muscle area(LMA), beef marbling score(MS) and back fat thickness(BF) were compared among three genotypes by P(R..RFlJ> and showed significant differences among genotypes. PCR-RFLP(Kpn2 I) were detected significant for SP, MS and BF. The allele was essociated with fatter carcasses and C allele with leaner carcasses.

• Neonatal Medicine
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• v.16 no.2
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• pp.137-145
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• 2009

Purpose: The aim of this study was to determine the genotype frequencies of interleukin 10 (IL-10) gene polymorphisms and to investigate their association with the risk of respiratory distress syndrome (RDS) in preterm Korean infants. Methods: Two hundred fourteen preterm infants born at Ewha Womans University Mok Dong Hospital between November 2003 and July 2008 were studied. The cord blood of preterm neonates and the corresponding maternal blood were analyzed by PCR for IL-10 gene (IL-10 -1082A/G, -819T/C, and -592A/C) polymorphisms. The clinical data of patients were collected retrospectively by chart review. Results: The genotype frequencies of IL-10 genes in Korean mothers with preterm infants differ from other reports. The prevalence of two promoter SNPs of the IL-10 cytokine gene was similar but none had the IL-10-1082GG homozygote. Multiple logistic regression analysis demonstrated the risk of RDS to be significantly lower in the infants of the mothers with an IL-10-592AC/CC genotype than in those with an AA genotype (P=0.033). The risk of RDS was significantly lower in the mother with an IL-10-819TC/CC genotype than in those with a TT genotype (P=0.030). However, IL-10 polymorphisms in the cord blood were not significantly different in preterm infants with RDS compared with the preterm infants without RDS. When we compared the incidence of RDS and each IL-10A-1082G/T-819C/A-592C haplotype, the ACC haplotype had a protective effect on RDS (P=0.007). Conclusion: We conclude that the maternal IL-10-592A/C and IL-10-819T/C polymorphisms may have a role in the development of the RDS in preterm infants.

• Journal of Life Science
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• v.25 no.1
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• pp.84-92
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• 2015

Interferon inducible transmembrane protein (IFITM) family genes have been implicated in various cellular processes such as the homotypic cell adhesion functions of IFNs and cellular anti-proliferative activities. The present study aimed to investigate whether the polymorphisms of the IFITM2 and IFITM5 genes are associated with susceptibility to UC. We identified a total of thirteen polymorphisms (eleven SNPs and two variations) in the IFITM2 gene and twelve polymorphisms (eleven SNPs and one variation) in the IFITM5 gene, by the direct sequencing method. Genotype analysis in the IFITM2 and IFITM5 SNPs was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and Taq-Man probe analysis, and the haplotype frequencies of IFITM2 and IFITM5 SNPs for multiple loci were estimated using the expectation maximization (EM) algorithm. The genotype and allele frequencies of IFITM2 SNPs, as well as IFITM5 SNPs, in UC patients were not significantly different from those of the healthy controls. We also analyzed the combined frequencies of rs77537847 of IFITM1, rs909097 of IFITM2, and rs56069858 of IFITM5 in the UC patients and the healthy controls. Although the distribution of the major combined genotype frequency did not differ significantly between the healthy controls and the UC patients, the GGT combined frequency in the healthy controls was significantly different from that in the UC patients (P=0.002). This result suggests that the combined genotype of the IFITMs polymorphisms may be associated with a susceptibility to UC and could be a useful genetic marker for UC.

• Korean Journal of Clinical Pharmacy
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• v.17 no.1
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• pp.13-18
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• 2007

The purpose of the present study was to investigate the effect of cimetidine on theophylline pharmacokinetics in Korean healthy normal subjects. Eight subjects were enrolled and open label, two period cross-over study was conducted without significant drug related adverse reactions. Cimetidine seemed that significantly inhibited the metabolism of theophylline, oral clearance decreased significantly when cimetidine was coadministered. Coadministered cimetidine increased $AUC_t$ and $C_{max}$ of theophylline. All subjects were genotyped using PCR-RFLP methods to evaluate the differences in metabolic capacity in accordance with CYP1A2 genotypes, but no mutant genotype was found. This suggests that metabolic capacities were not significantly affected by CYP1A2 genotypes among subjects. In conclusion, disposition of theophylline was significantly affected by coadministered cimetidine. Further evaluation with well-designed drug interaction study in accordance with various genotype of CYP1A2 is needed.

• Journal of Animal Science and Technology
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• v.53 no.2
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• pp.107-111
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• 2011

This study was undertaken to reveal the relationship between genetic variations and the basic coat color classification system in Jeju horses. Genetic variations of the melanocortinreceptor 1 (MC1R) and agouti signaling protein (ASIP) genes were investigated using pyrosequencing technique. A nucleotide substitution mutation for MC1R g.901C>T and an ASIP 11-bp deletion mutation were screened. Black horses had MC1R $E^+$/- ($E^+/E^+$ or $E^+/E^e$) and ASIP $A^a/A^a$ genotypes. In contrast, chestnut horse genotypes were MC1R $E^e/E^e$ and ASIP -/-. Thus, black and bay horses have at least one dominant MC1R allele, $E^+$, whereas chestnut horses have homozygous recessive alleles $E^e/E^e$. This suggests that the MC1R genotypes determine chestnut or black/bay coat color, regardless of the genotype distribution of ASIP. In addition, the horses with MC1R $E^+$/- and a dominant ASIP $A^A$/- allele showed bay coat color, but not black, suggesting that the ASIP $A^A$ allele represses black coat color development in the hairs of the body, but not in the mane and all four legs. Pedigree analysis showed a consistent relationship between the genotype distribution of the MC1R and ASIP genes and basic coat color patterns, even in the $F_1$ progeny. The results of this study revealed the relationship between the coat color phenotype and genetic background and suggested that useful information may be provided for molecular breeding of Jeju horses.

• Journal of the Korea Institute of Information and Communication Engineering
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• v.17 no.12
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• pp.3009-3015
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• 2013

Next-generation sequencing (NGS) has enabled whole genome and transcriptome single nucleotide variant (SNV) discovery in cancer and method of the most fundamental being determining an individual's genotype from multiple aligned short read sequences at a position. Bayesian algorithm estimate parameter using posterior genotype probabilities and other method, EM algorithm, estimate parameter using maximum likelihood estimate method in observed data. Here, we propose a novel genotype-calling system and compare and analyze the effect of sample size(S = 50, 100 and 500) on posterior estimate of sequencing error rate, somatic mutation status and genotype probability. The result is that estimate applying Bayesian algorithm even for 50 of small sample size approached real parameter than estimate applying EM algorithm in small sample more accurately.

• Pediatric Infection and Vaccine
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• v.11 no.1
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• pp.59-72
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• 2004

Purpose : Rotaviruses are the major cause of gastroenteritis in infants and young children worldwide. It is important to get the epidemiologic data of rotavirus genotype for the application of rotavirus vaccine. So we tried to investigate the distribution of rotavirus genotypes with RT-PCR. Methods : A total of 120 rotavirus latex agglutinin test positive stool samples were collected continually from 120 children from Sep. 2000 to Apr. 2001. Rotavirus P(VP4), G (VP7) genotypes were determined by RT-PCR. Results : The genotype was identified in 116 stool samples of total 120 samples(96%). The incidence of G genotype was as follow; G1 17(14.2%), G2 74(61.7%), G4 1(0.8%), G9 1(0.8%). There were four cases of multiple genotypes; G1/G2, G1/G4, G1/G9, G8/G9 and genotype of G3, G8 were not found. Twenty three(19.2%) samples were nontypeable. The incidence of P was as follow; P[4] 77(64.2%), P[6] 22(18.3%), P4/P6 12(10%), P[4]/P[8] 1(0.8%) p[8] 1(0.8%). Seven(5.9%) samples were nontypeable. Conclusion : Various combinations of G and P genotypes were observed. Most rotavirus strains were P[4]G2 62(51.74%), followed by P[6]G2 7(5.8%), and P[6]G1 7(5.8%), P[4/P[6] G1 4(3%), P[4]/P[6]G2 4(3%), P[4]G1 3(2.5%), P[8]G2 1(0.8%), P[4]G4 1(0.8%) in Kyoungsangnamdo, Korea during 2000~2001.

• Journal of Animal Science and Technology
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• v.54 no.4
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• pp.255-265
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• 2012

The objectives of this study were to investigate MC1R genotype, coat color, and muzzle phenotype variationsin the Korean native brindle cattle (KNBC) maintaining family lines and to establish the mating system for increased brindle coat color appearance. KNBC with genotype and phenotype records were selected as experimental animals. The relationship between melanocortin 1 receptor (MC1R) genotypes, verified by PCR-RFLP, and brindle coat color appearance was determined. Fragments of the MC1R gene amplified by PCR were digested with MspI and RFLP was determined. KNBC had $E^+E^+$, $E^+e$, and ee genotypes. The $E^+e$ genotype was most common with 65%, compared to $E^+E^+$ (33.33%), or ee (1.67%). When the sire had $E^+e$ genotype and the dam had $E^+E^+$ genotype, and both of them had the whole body-brindle coat color, all of their offspring (4/4) had whole body-brindle coat color. When the sire had $E^+E^+$ genotype and the dam had $E^+e$ genotype, and both had whole body-brindle coat color, 44.44% (4/9) of the offspring had whole body-brindle coat color. The mating between the sires and dams with these two genotypes with whole body-brindle coat color may have the highest whole body-brindle coat color appearance in their offspring. Muzzle grades 3 or 4 were more common than other muzzle grades. This is the first report indicating the segregation of MC1R genotypes and the inheritance of coat color through family lines in KNBC. The mating system proposed from this study may increase the possibility of brindle coat color appearance in KNBC.

• Journal of Life Science
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• v.33 no.12
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• pp.987-994
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• 2023

This study examined the associations between the genotypes of the galactose mutarotase (GALM) gene and carcass traits in the Hanwoo population of Jeju Island, South Korea. The GALM genotypes were determined by the 14-bp (5'-GGTCTAATGACCAG-3') insertion/deletion (InDel) polymorphisms of the 3'-untranslated region (UTR). All three genotypes (LL, LS, and SS) were found in the Hanwoo steer population. The association analysis showed significant associations between genotypes and several carcass traits, including traits related to intramuscular fat content, such as meat quality, marbling score, and backfat thickness (p<0.05). Animals harboring the SS genotype showed not only higher levels of intramuscular fat content but also lower levels of backfat thickness than animals harboring the LL and LS genotypes. On the other hand, no significant associations were found between the GALM genotypes and carcass weight, eye muscle area, meat color, or fat color (p>0.05). Deleting the 14-bp segment in the 3'-UTR resulted in the modification of the secondary structure of RNA and appeared to affect gene expression by interfering with the binding ability of GALM mRNA with RNA-binding proteins and microRNAs. These results suggest that the 14-bp InDel polymorphism in the 3'-UTR region of the GALM gene affects cattle growth traits and carcass quality through galactose metabolism-mediated fat accumulation in muscle and backfat tissues.

• Journal of fish pathology
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• v.34 no.2
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• pp.123-131
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• 2021

This study investigated the phylogenetic classification and pathogenicity of 6 infectious hematopoietic necrosis virus (IHNV) strains isolated from salmonid fish in Gangwon-do, Korea. Based on the nucleotide sequence of mid-G region, all six strains belong to J genotype, of which 5 are J-Nagano type and 1 J-Shizuoka type. In a challenge test, 5 isolates of J-Nagano type IHNV showed a various mortalities as 2 isolates induced a high mortality of 100% and the other 3 isolates induced mortalities of 50, 30, and 20% after intraperitoneal injection in rainbow trout (Oncorhynchus mykiss). Meanwhile no mortality was occurred by 1 isolate of J-Shizuoka type virus. Thus, it seems that there might be no relation between genotype and pathogenicity within IHNV J genotypes. This is contrary to previous studies where reported a higher pathogenicity of J-Shizuoka type virus than J-Nagano type virus in rainbow trout. Further examination will be required to clarify this since only one J-Shizuoka type virus was analyzed in this study.