• Journal of Life Science
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• v.15 no.6 s.73
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• pp.972-978
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• 2005

The present study was carried out to investigate the blood markers of Jeju horses. The redcell cypes (blood groups) and blood protein types (biochemical polymorphisms) were tested from 102 Jeju horses by serological and electrophoretc procedure, and their phenotypes and gene frequencies were estimated. The blood group and biochemical polymorphism phenotypes observed with high frequency were $A^{af}\;(27.45\%$), $C^{a}\;(99.02\%$), $K^{-}\;(97.06\%$), $U^{a}\;(62.75\%$), $P^{b}\;(36.27\%$), $Q^{c}\;(47.06\%$), $D^{cgm/dghm}\;(13.73\%$), $D^{adn/cgm}\;(9.80\%$), $D^{ad/cgm}$\;(8.82\%$), $D^{dghm/dghm}(7.84\%$), $D^{cgm/cgm}(7.84\%$), $AL^{B}\;(48.04\%$), $GC^{F}\;(99.02\%$), $AlB^{K}\;(97.06\%$), $ES^{FI}\;(36.27\%$), $TF^{F2}\;(25.49\%$), $HB^{B1}\;(45.10\%$), and $PGD^{F}\;(86.27\%$) in Jeju horses, respectively. Alleles observed with high gene frequency were $A^{af}$ (0.3726), $A^{C}$ (0.2647), $C^{-}$ (0.5050), $K^{-}$ (0.9853), $U^{-}$ (0.6863), $P^{b}$ (0.4657), $Q^{c}$ (0.5294), $D^{cgm}$ (0.3039), $HB^{B1}$(0.6863), $PGD^{F}$ (0.9265), $AL^{B}$ (0.6912), $ALB^{K}$ (0.9852), $GC^{F}$ (0.9950), $ES^{I}$ (0.5000) and $TF^{F2}$ (0.4950) in Jeju horses, and sfecific alleles, $D^{cgm(f)}$ (0.0196), $HB^{A}$ (0.0147), $HB^{A2}$ (0.0196), $ES^{G}$ (0.0441), $ES^{H}$ (0.0098), $TF^{E}$TF'(0.0246), $TF^{H2}$ (0.0049) and $PGD^{D}$ (0.0098) were detected in Jeju horses. These preliminary results present basic information for detecting the genetic markers in Jeju horse. and developing a system for parentage verification and individuals identification in jeju horses.

• Korean Journal of Agricultural Science
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• v.22 no.1
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• pp.69-81
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• 1995

This study was conducted to examine the genetic variants of the blood proteins and enzymes in beef cattle breeds, Hereford, Angus and Sharolais reared at the Daekwanryuong Branch of the National Livestock Research Institute. Genetic polymorphisms of transferrin(Tf), post-transferrin2(pTf-2), albumin(Alb), post-albumin (pAlb), ceruloplasmin(Cp), amylase-I(Am-I) and hemoglobin(Hb) in blood were analyzed by the methods of PAGE(polyacrylamide gel electrophoresis) and STAGE(starch gel electrophoresis). The results obtained from this study were summarized as follows: 1. Tf and pTf-2 locus assumed to be controlled by codominant alleles, A. $D_1$, $D_2$ and E allele for Tf, F and S allele for pTf-2. In genotype frequencies, 25% and 90% for Tf $D_1D_2$ and pTf-2 SS in Hereford, 25% and 100% for Tf $AD_1$ and pTf-2 FF in Angus, 50% for Tf $D_1D_1$ and pTf-2 FS in Sharolais were found to have the highest frequency, respectively. In gene frequencies, 0.400 and 0.900 for Tf E and pTf-2 S allele in Hereford, 0.678 and 0.607 for Tf $D_1$ and pTf-2S in Sharolais were appeared to have the highest frequency. 2. Alb and pAlb locus assumed to be controlled by codominant alleles, only A allele for Alb, F and S allele for pAlb. In genotype frequencies, 70% for pAlb SS in Hereford, 90% for pAlb FF in Angus and 57.15% for pAlb SS in Sharolais were found to have the highest frequency. In gene frequencies, 0.825 and 0.750 for pAlb S in Hereford and Charolais, 0.900 for pAlb F in Angus were found to have the highest frequency. 3. Cp and Am-I locus appeared to be controlled by two alleles, F and S allele for Cp, B and C allele for Am-I. In genotype frequencies, 100% and 65% for Cp FF and Am-I BB in Hereford, 45% and 85% for Cp FF, and Am-I CC in Angus, 50% and 64.29% for Cp FF and Am-I BC in Sharolais were found to have the highest frequency. Gene frequencies were 1,000, 0.600 and 0.750 for Cp F in Herehord, Angus and Sharolais, 0.800, 0.875 and 0.680 for Am-I B, C and C allele in Hereford, Angus and sharolais, respectively. 4. Hb locus assumed to be controlled by codominant alleles, only A allele in Hereford and Angus, A and B allele in Sharolais. Genotype frequencies were 57.14% and 42.86% for Hb AA and AB in Sharolais, and gene frequencies were 0.785 and 0.215 for Hb A and B in Sharolais.

• Korean Journal of Agricultural Science
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• v.25 no.2
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• pp.216-224
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• 1998

This study was performed to offer the basic and applicable data for improvement of Korean cattle and dairy cattle, according to finding the genetic construction obtained from analysis of genetic polymorphisms of ${\beta}$-lactoglobulin and ${\kappa}$-casein loci related Korean cattle and Holstein cows using PCR-RFLP. Genomic DNA used in this study was prepared from the blood of 253 individuals of Korean cattle in Korean Native Cattle Improvement Center, NLCF, and the blood of 113 individuals of Holstein cows in National Livestock Research Institute. The results obtained are summarized as follows : 1. This study confirmed amplified products of 530bp and 262bp fragments obtained from the amplification of ${\beta}$-lactoglobulin and ${\kappa}$-casein loci in Korean cattle and Holstein breed by PCR. 2. The ${\beta}$-lactoglobulin AA genotype showed 153bp and 109bp fragments, and ${\beta}$-lactoglobulin AB genotype showed 153bp, 109bp, 79bp and 74bp fragments, and BB genotype showed 109bp, 79bp and 74bp fragments in amplified products of ${\beta}$-lactoglobulin loci with the restricted enzyme digestion of Hae III. 3. The ${\kappa}$-casein AA genotype showed a 530bp fragment, and ${\kappa}$-casein AB genotype showed 530bp, 344bp and 186bp fragments, and BB genotype showed 344bp and 186bp fragments in amplified products of ${\kappa}$-casein loci with the restricted enzyme digestion of Taq I. 4. On ${\beta}$-lactoglobulin genotypes and gene frequencies, Korean cattle were 6.72%, 26.09% and 67.19% for AA, AB and BB genotypes, and ${\beta}$-lactoglobulin A and B alleles were 0.197 and 0.803, and Holstein were 35.40%, 56.64% and 7.96% for AA, AB and BB genotypes, and ${\beta}$-lactoglobulin A and B alleles were 0.637 and 0.363, respectively. 5. On ${\kappa}$-casein genotypes and gene frequencies, Korean cattle were 46.25%, 39.13% and 14.62% for AA, AB and BB genotypes, and ${\kappa}$-casein A and B alleles were 0.658 and 0.342, and Holstein were 60.18% and 38.94% and 0.88% for AA, AB and BB genotypes, and ${\kappa}$-casein A and B alleles were 0.796 and 0.204, respectively. 6. As a consequence, the gene frequency was 0.197 and 0.803 for ${\beta}$-lactoglobulin A and B alleles, and 0.658 and 0.342 for ${\kappa}$-casein A and B alleles in Korea cattle, but was 0.637 and 0.363 for ${\beta}$-lactoglobulin A and B alleles, and 0.796 and 0.204 for ${\kappa}$-casein A and B alleles in Holstein, respectively.

• Korean Journal of Agricultural Science
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• v.36 no.2
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• pp.167-177
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• 2009

This study was conducted to characterize the DGAT1 gene in Korean Holstein dairy cattle population and examine the relationship of DGAT1 polymorphisms with milk yield and milk fat yield for the genetic improvement of Korean Holstein dairy cattle. Results indicated that the 411 bp PCR products were successfully amplified by DGAT1 specific primers. Sequence analysis indicated that the DGTA1 Q allele had AUG (Lysine, K) nucleotide sequences in 216-218 bp and q allele had GCG (Alanine, A) sequences in the same position. Nucleotide sequence homology between the DGAT1 sequences generated in this study showed 100% homology with bovine DGAT1 sequences in the NCBI database. The genotype frequencies of DGAT1 QQ, Qq, and qq were 16.43, 36.43, and 47.14%, respectively, in Korean Holstein dairy cattle population. The observed Q and q allele frequencies were 0.35 and 0.65, respectively. Statistically significant (P<0.05) results were identified for milk yield and milk fat yield for the DGAT1 genotypes. The Qq genotype Holsteins have significantly higher milk yield and milk fat yield than those of the QQ and qq genotype Holsteins(P<0.05).

• Journal of Life Science
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• v.30 no.1
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• pp.58-63
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• 2020

This study was conducted to examine association between melanocortin-4-receptor (MC4R) genotypes and fatty acid (FA) composition in an F₂ intercross between Duroc and Jeju (South Korea) Native pigs (JNP). Fourteen FA composition traits were measured in more than 290 F₂ progeny population produced between Duroc and JNP. All experimental pigs were successfully genotyped for the MC4R c.1426A>G (p.Asp298Asn) single nucleotide polymorphism (SNP) by using Taq I PCR-RFLP methods. We detected three MC4R genotypes, AA, AG, and GG with 0.299, 0.542, and 0.159 genotype frequencies, respectively. The MC4R AA genotype animals showed higher levels in palmitic acid (C16:0, p<0.05), stearic acid (C18:0, p<0.01), eicosenoic acid (C20:1n9, p<0.05), saturated fatty acid (SFA, p<0.01) than GG homozygotes, respectively. Whereas MC4R GG genotype showed higher values in linoleic acid (C18:2n6, p<0.001), linolenic acid (C18:3n3, p<0.001), linolenic acid (C18:3n6, p<0.001), arachidonic acid (C20:4n6, p<0.001) and unsaturated fatty acid (USFA, p<0.01) than AA pigs, respectively. The MC4R GG genotype was associated with increasing USFA and decreasing SFA in the F₂ progeny population produced between Duroc and JNP. Our finding suggests that the MC4R polymorphisms can be used as a valuable genetic marker for Duroc and JNP breeding programs to improve meat quality and to control FA compositions.

• Journal of Periodontal and Implant Science
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• v.33 no.4
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• pp.747-753
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• 2003

면역글로불린의 Fc 부분에 대한 수용기인 $Fc{\gamma}R$는 세균에 대한 인식, 결합과 포식작용과정에서 중요한 역할을 한다. 이 $Fc{\gamma}R$에서 $Fc{\gamma}R$IIa, $Fc{\gamma}R$IIIa, $Fc{\gamma}R$IIIb의 유전자 다형성이 치의학 분야에서 연구되고 있다. $Fc{\gamma}R$IIa에서는 두 번째 세포외 면역글로불린 유사 영역의 131번째 아미노산에서 아르기닌($Fc{\gamma}R$IIa-R131) 혹은 히스티딘($Fc{\gamma}R$IIa-H131)을 갖고 있으며, $Fc{\gamma}R$IIIa에서는 두번째 세포외 영역의 158번째 아미노산이 발린($Fc{\gamma}R$IIIa-158V) 혹은 페닐알라닌($Fc{\gamma}R$IIIa-158F)을 갖고 있다. $Fc{\gamma}R$IIIb에서는 첫 번째 세포외 면역글로불린 유사영역의 4개의 아미노산의 유전자 다형성으로 인해서 $Fc{\gamma}R$IIIb-NA1과 $Fc{\gamma}R$IIIb-NA2의 두가지 유전자 다형성을 보이고 있다. 이번 연구는 치주적으로 건강한 한국인에서 $Fc{\gamma}R$IIa, $Fc{\gamma}R$IIIa, $Fc{\gamma}R$IIIb에 대한 유전자형의 분포를 조사하고자 한 것으로 서울대학교 치과병원에 근무하는 치과의사, 치과위생사, 간호조무사 및 서울대학교 치과대학 4학년 학생 중 치주낭 깊이와 부착소실이 4mm 이하인 치주적으로 건강한 한국인 65명을 대상으로 하였다. $Fc{\gamma}R$IIa, $Fc{\gamma}R$IIIa, $Fc{\gamma}R$IIIb의 유전자 다형성은 분리한 DNA에 각 대립유전자에 특이성을 지닌 primer를 넣고 PCR(polymerase Chain Reaction)법을 이용하여 증폭시킨후 전기영동법을 이용하여 각 대립유전자의 존재를 확인함으로써 결정하였다. $Fc{\gamma}R$IIa의 유전자 다형성은 R/R131, R/H131, H/H131의 유전자형에 대하여 각각 7.7%, 38.5%, 53.8%의 분포를 보였으며, $Fc{\gamma}R$IIIa의 158V/V, 158V/F, 158F/F 유전자형에 대하여 각각 7.7%, 35.4%, 56.9%의 분포를 보였다. 또한 $Fc{\gamma}R$IIIb의 NA1/NA1, NA1/NA2, NA2/NA2 유전자형은 각각 33.9%, 53.8%, 12.3%의 분포를 보였다. 이를 바탕으로 각 대립유전자의 발생빈도 계산한 결과 $Fc{\gamma}R$IIa의 R131과 H131이 26.9% 73.1%로 나타났으며, $Fc{\gamma}R$IIIa의 158V, 158F의 유전자형이 25.4%, 74.6%로 나타났다. $Fc{\gamma}R$IIIb의 NA1, NA2 유전자형의 발생빈도는 60.8%, 29.2%로 나타났다. 이번 연구는 치주적으로 건강한 한국인에서의 $Fc{\gamma}R$IIa, $Fc{\gamma}R$IIIa, $Fc{\gamma}R$IIIb에 대한 유전자형의 분포를 조사한 것으로, 이후 치주질환자의 유전자형 분포와의 비교로 치주질환과 $Fc{\gamma}R$IIa, $Fc{\gamma}R$IIIa, $Fc{\gamma}R$IIIb의 유전자다형성과의 관련성에 관한 추가적인 연구가 필요할 것으로 여겨진다.

• KOREAN JOURNAL OF CROP SCIENCE
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• v.65 no.3
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• pp.172-181
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• 2020

Koshihikari has been one of the most popular rice cultivars with good eating quality since the 1960s despite its susceptibility to blast disease and lodging. To map the genes controlling blast resistance and to develop promising blast-resistant breeding lines inheriting Koshihikari's high eating quality, a recombinant inbred line (RIL) population was developed from a cross between Koshihikari and a blast resistance donor with early maturity, Baegilmi. A total of 394 Koshihikari × Baegilmi RILs (KBRIL), and the two parents, were evaluated for blast resistance and major agronomic traits including heading date, culm length, panicle length, and tiller number. A linkage map encompassing 1,272.7 cM was constructed from a subset of the KBRIL (n = 142) using 130 single nucleotide polymorphisms. Two quantitative trait loci (QTL) for blast resistance, qBL1.1 harboring Pish/Pi35 and qBL2.1 harboring Pib, were mapped onto chromosomes 1 and 2, respectively. qBL1.1 was detected in both of the experimental sites, Namwon and Jeonju, while qBL2.1 was only detected in Namwon. qBL1.1 and qBL2.1 did not affect agronomic traits, including heading date, culm length, panicle length, and tiller number. From the 394 KBRILs, lines that were phenotypically similar to Koshihikari were selected according to heading date and culm length and were further divided into the following two groups based on blast resistance: Koshishikari-type blast resistant lines (KR, n = 15) and Koshishikari-type blast susceptible lines (KS, n = 15). Although no significant differences were observed in the major agronomic traits between the two groups, the KR group produced a greater mean head rice ratio than the KS group. The present study provides useful materials for developing blast-resistant cultivars that inherit both Koshihikari's high eating quality and Baegilmi's blast resistance.

• Journal of Life Science
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• v.26 no.11
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• pp.1232-1236
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• 2016

Mitochondrial calcium uptake 1 (MICU1) including two canonical EF hands, located in the mitochondrial inner membrane, is known to play a crucial role in the calcium uptake in mitochondria. Mitochondrial calcium uptake in muscular cells is related to post mortem shortening by calcium release from muscles. Therefore, the porcine MICU1 gene has been estimated as a genetic candidate for meat quality traits. In this study, variations on the exonic regions of the porcine MICU1 gene were investigated by sequencing cDNAs and tested for their association with meat quality traits. A total of 667 Berkshire heads (347 sows and 320 castrated boars) were used for this association test. Three SNPs were detected on the 3' untranslated region (UTR) of the porcine MICU1 gene. SNP1 (c.*136G>A) was associated with drip loss (p=0.017) and intramuscular fat content (p=0.039). In addition, SNP2 (c.*222G>A) and SNP3 (c.*485G>A) were associated with drip loss (p=0.018) and intramuscular fat content (p<0.001), respectively. In conclusion, it was verified that three variations on the 3' UTR of the porcine MICU1 gene were significantly associated with meat quality traits. It was also suggested that molecular biological analyses are needed to validate the function of variations on the 3 UTR of the porcine MICU1 gene.

• Korean Journal of Food Science and Technology
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• v.50 no.5
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• pp.480-485
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• 2018

In this study, to identify single nucleotide polymorphisms (SNPs) associated with meat quality in Berkshire pigs, we performed RNA sequencing. A non-synonymous SNP (nsSNP) in the Complement component 9 (C9) gene was identified, and the association between meat quality traits and the C9 genotype was analyzed. The nsSNP in the C9 gene was located at c.942 G>T. In the dominant model, significant associations were observed between the SNP and meat quality traits such as CIE L, collagen content, moisture level, and $pH_{24h}$, whereas in the co-dominant model, significant associations were observed between the SNP and CIE L, collagen content, and protein content. In the recessive model, a significant association between the C9 genotype and the collagen content was observed. In addition, we identified the significant relationship between the C9 genotype and meat quality according to sex. These results indicate that the C9 SNP can be used as a genetic marker for improving pork quality.

• Genomics & Informatics
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• v.16 no.2
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• pp.36-41
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• 2018

Kawasaki disease (KD) is an acute febrile vasculitis predominately affecting infants and children. The dominant incidence age of KD is from 6 months to 5 years of age, and the incidence is unusual in those younger than 6 months and older than 5 years of age. We tried to identify genetic variants specifically associated with KD in patients younger than 6 months or older than 5 years of age. We performed an age-stratified genome-wide association study using the Illumina HumanOmni1-Quad BeadChip data (296 cases vs. 1,000 controls) and a replication study (1,360 cases vs. 3,553 controls) in the Korean population. Among 26 candidate single nucleotide polymorphisms (SNPs) tested in replication study, only a rare nonsynonymous SNP (rs4365796: c.1106C>T, p.Thr369Met) in the lymphoid enhancer binding factor 1 (LEF1) gene was very significantly associated with KD in patients younger than 6 months of age (odds ratio [OR], 3.07; $p_{combined}=1.10{\times}10^{-5}$), whereas no association of the same SNP was observed in any other age group of KD patients. The same SNP (rs4365796) in the LEF1 gene showed the same direction of risk effect in Japanese KD patients younger than 6 months of age, although the effect was not statistically significant (OR, 1.42; p = 0.397). This result indicates that the LEF1 gene may play an important role as a susceptibility gene specifically affecting KD patients younger than 6 months of age.