• Journal of the Korean Data and Information Science Society
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• v.22 no.4
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• pp.661-669
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• 2011

By direct sequencing of 12 STS marker, we identified 10 polymorphic SNPs. As a result of genotype frequency analysis between 10 polymorphic SNPs and extreme population (n=20) for marbling score in Hanwoo (n=233), there was over 40 percent of frequency difference of HWSNP_1-1 and HWSNP_9-4 SNP. HWSNP_1-1 SNP was significantly associated with marbling score in large-scale population (n=233). Therefore we suggested that HWSNP_1-1 SNP can be useful as a positional candidate for beef quality for marker-assisted selection in Hanwoo.

• Clinical and Experimental Reproductive Medicine
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• v.33 no.1
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• pp.61-61
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• 2006

Objectives : This study was performed to understand the influence of the methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) genotypes on the spontaneously aborted embryos. Methods : DNA was extracted from tissue samples of 95 spontaneously aborted embryos and 100 samples of normal children randomly and 449 samples of normal adults were selected as the controls. MTHFR genotypes were determined by a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. Results : The aborted embryo group had higher frequency of MTHFR 677CC type (p=0.014) and lower 677CT type (p=0.063) than the controlled child group. The frequency of MTHFR 677CT type was drastically lower than that of controlled adult group (p=0.032). In the MTHFR C677T/A1298C combination, 677CC/1298AC genotype of the aborted embryo was significantly higher (p=0.034) than that of controlled child group, but it was not statistically significant in controlled adult group (p=0.063). Conclusion : MTHFR 677CC and MTHFR 677CC/1298AC genotypes may represent genetic markers for the risk of spontaneously aborted embryos at least in Koreans.

• Clinical and Experimental Reproductive Medicine
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• v.35 no.4
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• pp.267-274
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• 2008

Objective: To evaluate the relationship between advanced stage endometriosis and polymorphisms in $\alpha$2-Heremans Schmidt glycoprotein (AHSG) gene in Korean women. Methods: One-hundred thirty women with endometriosis stage III and IV, and 224 women without endometriosis were enrolled. In these patients, we determined AHSG gene polymorphisms by PCR and RFLP (restriction fragment length polymorphism) analysis. Results: The genotype distribution of the AHSG gene polymorphism in the endometriosis group was not different from that of the control group (AHSG 1*1/AHSG 1*2/AHSG 2*2 frequencies were 56.2%/37.7%/6.2% and 55.8%/39.3%/4.9% for the endometriosis and control groups, respectively, p=.864). Also, the frequency of AHSG 2 haplotype was not different between endometriosis patients and controls (AHSG 1 haplotype /AHSG 2 haplotype rates were 75.0%/25.0% and 75.4%/24.6% for the endometriosis and control groups, respectively, p=0.894). Conclusion: AHSG gene polymorphism was not associated with the risk of advanced stage endometriosis in the Korean population.

• Journal of Life Science
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• v.17 no.10
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• pp.1441-1446
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• 2007

This study was conducted to establish the individual identification system and to estimate the genetic characteristic of Jeju native horse (JNH) using 13 microsatellite markers located on different horse autosomes. The markers were genotyped on 191 animals from five horse breeds including Jeju native horse (JNH). In total, 138 alleles were detected from the genotypes of 13 microsatellite markers. The average heterozygosities ranged from 0.317 to 0.902 and the polymorphic information content (PIC) ranged from 0.498 to 0.799 in JNH. We found that there were significant differences in allele frequencies in JNH when compared with other horse breeds. In ATH4 marker, there were specific allele frequence pattern that some of allele only found in JNH, Mongolian horse (MONG) and Jeju racing horse (JRH). The calculated cumulative power of discrimination (CPD) was 99.9% when nine microsatellite loci were used for analysis in the individual identification system. Also, the matching probability that two unrelated animals would show the same genotypes, was estimated to be $0.60{\times}10^{-10}$. Therefore, in the nine markers used in this study can be used for individual identification in the Jeju native horse population.

• Reproductive and Developmental Biology
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• v.28 no.1
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• pp.37-43
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• 2004

This study was carried out to investigate PSS (Porcine Stress Syndrome) with the PSE (Pale, Soft, Exudative) in 319 different pigs(Yorkshire 150; Landrace 89 and Duroc 80). The PCR-RFLP method was adapted to detect the ryanodine receptor (RYR 1) gene mutation and to estimate the genotype frequency of the RYR1 gene in breeding pig population. The DNA samples were collected from hair follicles of pigs of Yorkshire, Landrace and Duroc. After DNA amplification by PCR, the PCR products were digested by restriction enzyme, Cfo I. Primary PCR products of ryanodine receptor gene were length of 659 bp in hair follicle and their second PCR products were length of 522 bp in hair follicle. The exon region (522 bp) including point mutation ($C \arrow T; Arg \arrow Cys$) in the porcine ryanodine receptor gene, which is a causal mutation for PSS, was digested with Cfo I restriction enzyme. The RYR1 gene was classifed into three genotypes by agarose gel electrophoresis. The normal homozygous (NN) individuals showed two DNA fragments consisted of 439 and 83 bp. The mutant homozygous (nn) individuals showed only one DNA fragment 522 bp. In addition, all three fragments (522, 439 and 83 bp) were showed in heterozygous (Nn) carrier animals. The normal homozygous (NN), heterozygous (Nn) and mutant homozygous (nn) were 98.00, 2.00 and 0.00% in Yorkshire pigs, 87.64, 11.24 and 1.12% in Landrace, 100.00, 0.00 and 0.00% in Duroc, respectively. The gene frequencies of N and n were 0.990 and 0.010 in Yorkshire pigs, 0.933 and 0.067 in Landrace, 1.000 and 0.000 in Duroc, respectively.

• Journal of Life Science
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• v.31 no.12
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• pp.1088-1093
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• 2021

Jeju horse (Equus ferus caballus) is a Korean horse breed that has been native to Jeju Island for a long time. Jeju horses are used as racehorses, and their racing ability is a major economic trait. The role of the myostatin (MSTN) gene in skeletal muscle mass has been studied in various mammals, and mutations in the MSTN gene are known to affect the racing ability and stamina of thoroughbreds. In this study, we compared the frequency of mutations in the MSTN gene in several horse breeds, including 1,433 Jeju horses. Among the mutations (ECA18 g.66493737C>T) in the MSTN gene, the long-distance aptitude genotype (TT) was found to have a frequency of 0.826 in Jeju horses, which was higher than that in Halla horses (0.285) and thoroughbreds (0.252). The genotypes and arrival records of Jeju horses were compared according to various distances (400 m, 800 m, 900 m, 1,000 m, 1,110 m, and 1,200 m). According to the results, the CT type showed a faster-reaching record than the TT type in races of less than 1,000 m. However, almost identical results were confirmed in races over 1,110 m. This study suggests that the MSTN mutation in Jeju horses may be related to race distance aptitude. In future research, the data in this study can be used for developing markers related to race distance aptitude and racing abilities in Jeju horses.

• Journal of Animal Science and Technology
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• v.49 no.6
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• pp.711-718
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• 2007

Most cattle breeds have a coat color pattern that is characteristic for the breed. Korean cattle(Hanwoo) has a coat color ranging from yellowish brown to dark brown including a red coat color. Variation in the Hanwoo coat color is likely to be the effects of modified genes segregating within the Hanwoo breed. MC1R encoded by the Extension(E) locus was almost fixed with recessive red e allele in the Hanwoo, but other gene(s) might be affecting the variation of the Hanwoo coat color into yellowish to red brown. We have analyzed a segregation of coat color in the F2 families generated from two Hanwoo bulls(yellowish brown) mated to six F1 dams(black) derived from Hanwoo and Holstein crosses. Segregation of coat color in the offspring found a ratio of 1(yellowish brown) : 1(black) and this ratio indicates that a single gene may play a major role for the Hanwoo coat color. We further investigated SNPs in MC1R, ASIP and TYRP1 loci to determine genetic cause of the Hanwoo coat color. Several polymorphisms within ASIP intron 2 and TYRP1 exons were found but not conserved within the Hanwoo population. However, the segregation of the MC1R e allele was completely associated with the Hanwoo coat color. Based on this information, it is clear that the MC1R e allele is mainly responsible for the yellowish red Hanwoo coat color. Further study is warrant to identify possible genetic interaction between MC1R e allele and other coat color related gene(s) for the variation of Hanwoo coat color from yellowish brown to dark brown. (Key words : Hanwoo, Coat color, SNP, MC1R, ASIP, TYRP1)

• Journal of Genetic Medicine
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• v.8 no.2
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• pp.113-118
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• 2011

Purpose: Placental corticotropin-releasing hormone receptor type 1 (CRHR1) expression is reduced in pregnancies with abnormal placental function such as preeclampsia (PE), and the levels and/or function of CRHR1 are genetically influenced. The aim of this study was to investigate the association between the c.33+8199C>T polymorphism in the CRHR1 gene and PE in a Korean population. Materials and Methods: Using a case-control design, the association between the CRHR1 polymorphism and the risk of PE was investigated in 203 individuals with PE and 211 normotensive controls. Genotypes were determined using a SNapShot kit and an ABI Prism 3100 Genetic analyzer. Results: Genotypes and allele frequencies for the CRHR1 polymorphism did not differ between PE and normotensive pregnancies. The variant T allele was more frequent than the ancestral C allele in both of the groups and was more frequent in the controls than in the cases. In risk analysis for PE, there was not an increased risk of preeclampsia in subjects who were concomitant homozygous rare allele genotypes (CC) (OR, 0.3; P=0.15) or heterozygous rare allele genotypes (TC) (OR, 0.8; P=0.29). There were no differences in the complications of PE such as severity or preterm delivery in patients with the CRHR1 polymorphism. Conclusion: Our findings indicate that the CRHR1 polymorphism was not associated with PE in the present Korean study group.

• 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 Acupuncture Research
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• v.21 no.2
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• pp.31-40
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• 2004

목적 : 본 연구는 Interleukin 10 (IL10) 유전자 다형성이 구안와사의 발병과 관련이 있는지 알아보기 위해 수행되었다. 대상: 대구한의대학교부속 한방병원에 내원한 구안와사 환자 62명과 종합건진센터에 내원한 구안와사 기왕력이 없는 건강인 104명을 대상으로 하였다 방법 : 각 그룹에서 개개인마다 DNA를 분리 정제한 후 Taq polymerase로 증폭하여 한천 겔에서 전기영동을 하여 PCR 산물을 확인하였다. PCR 산물은 Pyrosequendng 과정을 통하여 IL10의 유전형이 자동으로 판정되었다. 결과 : A/A, A/C의 두가지 유전자형이 검출되었으며 구안와사군과 대조군 사이에 유의성 있는 차이가 발견되지는 않았다(p=0.052). 또한 개별 allele 빈도에 있어서도 구안와사군과 건강인 사이에 통계적인 유의성이 나타나지 않았다(p=0.064). 결론 : 이상의 결과를 통하여 IL10 유전자 다형성은 구안와사의 발병과는 관련성이 없는 것으로 사려된다. 그러나 더 많은 구안와사 환자를 대상으로 IL10 유전자와의 연관성에 대한 후속 연구가 필요하다고 하겠다.