• Clinical and Experimental Reproductive Medicine
• /
• v.27 no.3
• /
• pp.291-294
• /
• 2000

연구목적: 본 연구는 자궁내막증과 다낭성 난포증후군 불임환자들을 대상으로 $LH{\beta}$ exon 3 (Gly102Ser) 유전자의 돌연변이를 탐색하고자 시도하였다. 연구재료 및 방법: 그 대상으로 26명의 자궁내막증 환자와 52명의 다낭성 난포증후군 환자 그리고, 50명의 출산 경험이 있는 건강한 여성을 대조군으로 사용하였다. 이들을 대상으로 한 돌연변이 탐색은 PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) 방법으로 수행되었다. 결과 : 그 결과 자궁내막증과 다낭성 난포증후군 환자 및 출산 경험이 있는 건강한 여성에서 그 변이형이 나타나지 않았다. 결론: 따라서, 자궁내막증과 다낭성 난포증후군 불임환자의 $LH{\beta}$ exon 3 돌연변이형은 중국인 집단에만 존재할 가능성이 높으며, 더 많은 불임환자들을 대상으로 한 연구가 요구된다.

• Archives of Pharmacal Research
• /
• v.29 no.6
• /
• pp.525-533
• /
• 2006

The aim of this study was to evaluate the bioequivalence of risperidone in healthy male subjects representing different CYP2D6 genotypes with respect to risperidone, 9-hydroxyrisperidone (9-OH-risperidone), and active moiety. A total of 506 Korean subjects were genotyped for $CYP2D6^*10$ by means of allele-specific polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Based on the genotype analysis, 24 subjects, 7 homozygous for $CYP2D6^*1$ for $^*10$, and 7 heterozygous for $^*10$, were recruited and received a single oral dose of 2 mg risperidone tablet in this study. Serum concentrations of risperidone and 9-OH-risperidone up to 48 h were simultaneously determined. There were no significant differences of the active moiety, risperidone, and 9-OH-risperidone between the two preparations in AUC_{0-{\propto}}$ and $C_{max}$. The 90% confidence intervals (Cls) for the ratio of means of the log-trans-formed AUC_{0-{\propto}}$ and $C_{max}$ for the active moiety, risperidone, and 9-OH-risperidone were all within the bioequivalence acceptance criteria of 0.80-1.25. The $CYP2D6^*10$ allele particularly was associated with higher serum concentrations of risperidone and the risperidone/9-OH-risperidone ratio compared with the $CYP2D6^*1$ allele. The results demonstrate that the two preparations of risperidone are bioequivalent and it can be assumed that they are therapeutically equivalent and exchangeable in clinical practice. Furthermore, the pharmacokinetic parameters of risperidone and the risperidone/9-OH-risperidone ratio are highly dependent on the CYP2D6 genotypes.

• Parasites, Hosts and Diseases
• /
• v.57 no.2
• /
• pp.207-211
• /
• 2019

Anisakiasis is a zoonotic disease induced by anisakid nematodes, and endoscopic inspection is used for a diagnosis or remedy for it. Anisakis simplex, Anisakis physeteris, and Pseudoterranova decipiens had been reported to be the major species causing human infections, particularly, in Japan. However, in Korea, recent studies strongly suggested that Anisakis pegreffii is the major species of human infections. To support this suggestion, we collected anisakid larvae (n=20) from 20 human patients who were undergone gastrointestinal endoscopy at a health check-up center in Korea, and molecular identification was performed on the larvae using PCR-RFLP analysis and gene sequencing of rDNA ITS regions and mtDNA cox2. In addition, anisakid larvae (n=53) collected from the sea eel (Astroconger myriaster) were also examined for comparison with those extracted from humans. The results showed that all human samples (100%) were identified as A. pegreffii, whereas 90.7% of the samples from the sea eel were A. pegreffii with the remaining 9.3% being Hysterothylacium aduncum. Our study confirmed that A. pegreffii is the predominant species causing human anisakiasis in Korea, and this seems to be due to the predominance of this larval type in the fish (sea eels) popularly consumed by the Korean people. The possibility of human infection with H. aduncum in Korea is also suggested.

• Journal of Animal Science and Technology
• /
• v.65 no.3
• /
• pp.511-518
• /
• 2023

This study examined the association between functional sequence variants (FSVs) of myosin heavy chain 3 (MYH3) genotypes and collagen content in a Landrace and Jeju native pig (JNP) crossbred population. Four muscles (Musculus longissimus dorsi, Musculus semimembranosus, Musculus triceps brachii, and Musculus biceps femoris) were used for the analysis of meat collagen content, and the same animals were genotyped for the FSVs of the MYH3 gene by using PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism). Three FSVs of MYH3 genotypes were identified and had genotype frequencies of 0.358, 0.551, and 0.091 for QQ, Qq, and qq, respectively. QQ animals for the FSVs of the MYH3 genotypes showed higher collagen content in their M. longissimus dorsi (p < 0.001), M. semimembranosus (p < 0.001), M. triceps brachii (p < 0.001), and M. biceps femoris (p < 0.001) than qq homozygous animals. After the validation of this result in other independent populations, the FSVs of MYH3 genotypes can be a valuable genetic marker for improving collagen content in porcine muscles and can also be applied to increase the amount of collagen for biomedical purposes.

• Journal of Animal Science and Technology
• /
• v.45 no.6
• /
• pp.939-948
• /
• 2003

The objective of this study was to identify the quantitative traits loci(QTL) for economically important traits such as growth, carcass and meat quality on pig chromosome 6. A three generation resource population was constructed from cross between Korean native boars and Landrace sows. A total of 240 F$_2$ animals were produced using intercross between 10 boars and 31 sows of F$_1$ animals. Phenotypic data including body weight at 3 weeks, backfat thickness, muscle pH, shear force and crude protein level were collected from F$_2$ animals. Animals including grandparents(F$_0$), parents(F$_1$) and offspring(F$_2$) were genotyped for 29 microsatellite markers and PCR-RFLP marker on chromosome 6. The linkage analysis was performed using CRI-MAP software version 2.4(Green et al., 1990) with FIXED option to obtain the map distances. The total length of SSC6 linkage map estimated in this study was 169.3cM. The average distance between adjacent markers was 6.05cM. For mapping of QTL, we used F$_2$ QTL Analysis Servlet of QTL express, a web-based QTL mapping tool(http://qtl.cap.ed.ac.uk). Five QTLs were detected at 5% chromosome-wide level for body weight of 3 weeks of age, shear force, meat pH at 24 hours after slaughtering, backfat thickness and crude protein level on SSC6.

• Korean Journal of Poultry Science
• /
• v.43 no.4
• /
• pp.273-279
• /
• 2016

Recently, it was reported that certain polymorphisms in the growth hormone secretagogue receptor gene (GHSR) are associated with the growth of chickens. However, the correlation between GHSR polymorphisms and economic traits has not been investigated in Korean native chickens (KNCs). Therefore, the objective of this study was to confirm the suitability of the GHSR gene as a candidate for genomic selection and identify a genetic marker for KNCs. A total of 220 KNCs from six breeds raised at the National Institute of Animal Science were genotyped for the c.739+726 SNP in the GHSR gene using polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP), and the sequence for a subset of 30 birds was analyzed using direct sequencing. The association between the SNP genotypes and the economic traits of the KNCs was analyzed using the statistical package for the social science (SPSS) software program. The association analysis between the c.739+726T>C SNP and economic traits revealed that the SNP was significantly associated with body weight at 150 and 270 days (BW150 and BW270, respectively) in all KNCs (p<0.01), BW150 in KNC (Gary) (p<0.05), and egg production number in KNC (White, p<0.05). In addition, the SNPs discovered using direct sequencing (513A>G, 517A>T) had a significant effect on the body weight and egg production traits (p<0.05). In conclusion, these results might be useful as a basis for studies on the improvement of KNC breeds. Furthermore, these results suggest that the SNPs (c.739+726T>C, 513A>G, and 517A>T) located in the GHSR gene could be useful molecular genetic markers for KNCs.

• Asian-Australasian Journal of Animal Sciences
• /
• v.17 no.9
• /
• pp.1183-1187
• /
• 2004

The natural resistance-associated macrophage protein 1 (NRAMP1) gene was identified as a candidate gene controlling the resistance and susceptibility to a number of intracellular parasites in pigs. The genetic variations in a 1.6 kb region spanning exon 1 and exon 3 of the porcine NRAMP1 gene were investigated by PCR-HinfI-RFLP in samples of 1347 individuals from 21 Chinese indigenous pig populations and 3 western pig breeds. Three alleles (A, B, C) and four genotypes (AA, BB, AB, BC) were detected. Significant differences in genotype and allele frequencies were observed between Chinese indigenous pig populations and exotic pig breeds, while in general the differences in genotype and allele frequencies among Chinese indigenous pig populations were not significant. The allele C was detected only in Duroc, Leping Spotted and Dongxiang Spotted pig, and the two Chinese pig populations showed similar genotype and allele frequencies. Four Chinese Tibetan pig populations displayed genetic differentiation at the NRAMP1 gene locus. In addition, intron 5 of the NRAMP1 gene was isolated and characterized by directly sequencing the PCR products encompassing intron 5. The alignment of intron 5 of the porcine, human, equine and ovine NRAMP1 gene showed a similarity of 45.38% between pig and human, 52.55% between pig and horse, 63.47% between pig and sheep, respectively.

• Environmental Mutagens and Carcinogens
• /
• v.22 no.4
• /
• pp.303-311
• /
• 2002

This study evaluated the concentrations of urinary metabolites of polycyclic aromatic hydrocarbons (PAHs) in industrial waste incineration workers. The effect of genetic polymorphisms of xenobiotic metabolism enzymes on urinary concentration of PAH metabolites was assessed. And, aromatic DNA adduct levels were also determined in total white blood cells. Fifty employees were recruited from a company handling industrial wastes located in Ansan, Korea: non-exposed group (n=21), exposed group (n=29). Sixteen ambient PAHs were determined by GC/MSD (NIOSH method) from personal breathing zone samples of nine subjects near incinerators. Urinary 1-hydroxypyrene glucuronide (1-OHPG), a major pyrene metabolite, was assayed by synchronous fluorescence spectroscopy after immunoaffinity purification using monoclonal antibody 8E11 (SFS/IAC). Multiplex PCR was used for genotyping for GSTMI/TI and PCR-RFLP for genotyping of CYP1A1 (MspI and Ile/Val). PAH-DNA adducts in peripheral blood WBC were measured by the nuclease P1-enhanced postlabeling assay. Smoking habit, demographic and occupational information were collected by self-administered questionnaire. The range of total ambient PAH levels were 0.00-7.00 mg/㎥ (mean 3.31). Urinary 1-OHPG levels were significantly higher in workers handling industrial wastes than in those with presumed lower exposure to PAHs (p=0.006, by Kruskal-Wallis test). There was a statistically significant dose-response increase in 1-OHPG levels with the number of cigarettes consumed per day (Pearson correlation coefficient=0.686, p<0.001). Urinary 1-OHPG levels in occupationally exposed smoking workers were highest compared with non-occupationally exposed smokers (p=0.053, by Kruskal-Wallis test). Smoking and GSTMI genotype were significant predictors for log-transformed 1-OHPG by multiple regression analysis (overall model R²=0.565, p<0.001), whereas smoking was the only significant predictor for log-transformed aromatic DNA adducts (overall model R²=0.249, p=0.201). Aromatic DNA adducts was also a significantly correlation between log transferred urinary 1-OHPG levels (pearson's correlation coefficient=0.307, p=0.04). However, the partial correlation coefficient adjusting for Age, Sex, and cigarette consumption was not significant (r=0.154, p=0.169). The significant association exists only in individuals with the GSTMI null genotype (pearsons correlation coefficient=0.516, p=0.010; partial correlation coefficient adjusting for age, sex, and cigarette consumption, r=0.363, p=0.038). Our results suggest that the significant increase in urinary 1-OHPG in the exposed workers is due to higher prevalence of smokers among them, and that the association between urinary PAH metabolites and aromatic DNA adducts in workers of industrial waste handling may be modulated by GSTMI genotype. There results remain to be confirmed in future larger studies.

• Asian-Australasian Journal of Animal Sciences
• /
• v.23 no.9
• /
• pp.1145-1151
• /
• 2010

The objective of this work was to analyze the relationship between ovine major histocompatibility complex (MHC) DRB1 gene polymorphism and genetic resistance to hydatidosis in Kazakh sheep. The Ovar (ovine MHC) class II DRB1 second exon was amplified by polymerase chain reaction (PCR) from DNA samples of 702 Kazakh sheep, including 302 sheep with hydatidosis and 400 health controls. PCR products were characterized by the restriction fragment length polymorphism (RFLP) technique using five restriction enzymes, i.e., MvaI, HaeIII, SacI, SacII and Hin1I, yielding 14 alleles and 28 genotypes. Comparing the frequency of genotypes in hydatidosis sheep with the control group, it was found that the genotype frequencies of MvaIbc, Hin1Iab, SacIIab, HaeIIIde, HaeIIIdf and HaeIIIdd in control sheep were significantly (p<0.01) higher than in hydatidosis sheep, indicating that a significant correlation existed between these genotypes and resistance to hydatidosis. Genotype frequencies of MvaIbb, SacIIaa, Hin1Ibb and HaeIIIef in sheep with hydatidosis were extremely significantly (p<0.01) higher than in the control group, and the genotype frequency of HaeIIIab was significantly higher (p<0.05), indicating that a marked correlation existed between these genotypes and susceptibility to hydatidosis. By way of analyzing haplotype with these resistant genotypes, the hydatidosis resistant haplotype MvaIbc-SacIIab-Hin1Iab of Kazakh sheep was screened out, and then verified through artificial hydatid infection in sheep. The results indicated that the infection rate of sheep with the resistant haplotype of hydatidosis was significantly lower (p<0.01) than without this resistant haplotype. It showed that the genic haplotype MvaIbc-SacIIab-Hin1Iab of Ovar-DRB1 exon 2 was the resistant haplotype of hydatidosis in Kazakh sheep.

• Clinical and Experimental Reproductive Medicine
• /
• v.30 no.3
• /
• pp.217-222
• /
• 2003

Objective: To investigate the association of genetic background between MTHFR C677T genotype and infertile females with polycystic ovarian syndrome. Materials and Methods: We compared 86 infertile females with polycystic ovarian syndrome (PCOS) with 100 healthy fertile females with one or more offspring. Pyrosequencing analysis for MTHFR C677T variation was performed on polymerase chain reaction (PCR) product of study group. To validate pyrosequencing data of C677T variation for randomly selected 50 samples, we compared the pyrosequencing result with the PCR-RFLP (Restriction Fragment Length Polymorphism) result of MTHFR C677T genotype. Results: The prevalence of the C677T mutant homozygous (TT) was significantly lower (p=0.0085) in females with PCOS (8.14%) than in fertile females (21.00%). MTHFR 677 TT genotype had a decreased risk (3.7-fold) of PCOS compared with wild type (MTHFR 677 CC). Conclusion: Our data support a role for MTHFR mutant homozygous (677 TT) genotype in reducing risk in Korean infertile females with Polycystic ovarian syndrome.