• Title/Summary/Keyword: 대립유전자

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Characterization of Bovine Lymphocyte Antigen DRB3 exon2 Gene of Korean Native Cattle (한우의 BoLA DRB3 exon2 유전자의 특성)

  • Kang, Ho Bum;Ryoo, Seung Heui;Lee, Sang Hoon;Jeon, Byung Soon;Sang, Byung Chan
    • Korean Journal of Agricultural Science
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    • v.25 no.1
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    • pp.79-88
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    • 1998
  • This study was performed in order to apply to effective breeding of Korean native cattle on the molecular genetic level obtained from PCR and nucleotide sequencing analysis of BoLA DRB3 exon2 that has important roles in host immune defence. Genomic DNA used in this study was prepared from the blood of Korean native cattle in Korean Native Cattle Improvement Center of National Livestock Cooperation. The results obtained from this study are summarized as follows: 1. Genomic DNA extracted from the blood of Korean native cattle was subjected to electrophoresis on 1.5% agarose gel. Major band was bigger than 12.2kb, indicating that genomic DNA was well prepared for PCR. Amplified products of 284bp fragments was obtained the amplification of BoLA DRB3 exon2 gene by PCR. 2. Cloning of BoLA DRB3 exon2 of Korean native cattle with pCR2.1 vector was conformed by 300bp fragment from recombinent plasmid that restricted with enzyme digestion of EcoRI. 3. Homology of BoLA DRB3 exon2 alleles of parent was 82.0% between sire's alleles and 90.1% between dam's alleles. 4. In pedigree analysis using BoLA DRB3 exon2 gene, sequencing result of BoLA DRB3 exon2 genes showed inheritance by Mendelian mode through the parents to their offspring. 5. Taking together those experimental results, pedigree was confirmed on the basis of sequencing for the alleles of parents and offspring. This knowledge by the molecular biological approach could be served for the improvement of Korean native cattle.

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Response to Bee Venom Acupuncture and Polymorphism of Matrix Metalloproteinase-1 Gene in Korean Patients with Rheumatoid Arthritis (한국인 류마티스 관절염 환자의 봉독약침 치료반응과 Matrix Metalloproteinase-1의 유전자 다형성 연구)

  • Lee, Sang-hoon;Choi, Do-young;Lee, Yun-ho
    • Journal of Acupuncture Research
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    • v.21 no.1
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    • pp.211-225
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    • 2004
  • 목적 : 류마티스 관절염 환자의 골 파괴에 중요한 역할을 하는 것으로 알려진 Matrix Metalloproteinase-1(MMP-1) 유전자의 단일 염기 다형성을 분석하고, 나아가 봉독약침 치료에 대한 반응과의 연관성을 조사하기 위하여 본 연구를 시행하였다. 방법 : 미국류마티스학회의 류마티스 관절염 기준에 해당하는 122명의 한국인 류마티스 관절염 환자와 건강한 92명의 대조군을 대상으로 pyrosequencing 방법을 이용하여 MMP-1 유전자의 -519 위치의 다형성을 비교 분석하였으며, 류마티스 관절염 환자군을 다시 유전자 유형에 따라 동통 관절수, 종창 관절수, 조기 강직, 통증 강도, 삶의 질 평가도구인 HAQ, 환자 및 의사의 전반적 질병상태 평가, ESR, CRP 등의 항목을 치료 전후 평가하여 비교 분석하였다. 결과 : 1. 류마티스 환자군과 건강한 대조군간에 MMP-1 유전자의 단일 염기 다형성의 유전자형의 분포와 대립유전자 발현 빈도에 통계적으로 유의한 차이가 나타났으며, 이는 MMP-1 유전자 다형성이 한국인 류마티스 관절염 환자의 질병 감수성과 관련이 있음을 추정할 수 있다. 2. 각 유전자형 그룹간 치료전 질병의 중증도 평가에서 임상 평가와 혈액의 급성 염증 반응물질 평가에서 통계적으로 유의한 차이는 없었다. 3. 급성 염증 반응의 지표인 ESR과 CRP level의 봉독약침 치료 전후 변화는 MMP-1의 유전자 다형성과 유의한 연관이 없었다. 4. 각 유전자형 그룹간의 치료 전후 질병 호전도 비교에서, AA 유전자형이 종창 관절수 평가에서 더나은 호전을 보였으며, 다른 모든 평가에서는 통계적으로 유의한 차이가 없었으며, 향후 관련 유전자와의 연관성 연구가 필요하다고 사료된다.

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Thymic Stromal Lymphopoietin (TSLP) Gene Polymorphisms are not Associated with Rheumatoid Arthritis in a Korean Population (TSLP 유전자의 다형성은 한국인 류마티스관절염 발생에 영향을 미치치 않는다)

  • Lee, Sam-Youn;Yu, Ji-In;Chae, Soo-Cheon
    • Journal of Life Science
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    • v.22 no.1
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    • pp.25-30
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    • 2012
  • Thymic stromal lymphopoietin(TSLP) is a novel IL-7-like hematopoietic cytokine. Human TSLP is produced by epithelial cells, stromal cells, and mast cells. The TSLP gene is highly expressed in synovial fluid specimens derived from rheumatoid arthritis (RA) patients. We previously identified four single nucleotide polymorphisms (SNPs) and one variation site in human TSLP gene. In this study, we analyzed the genotypic and allelic frequencies of the TSLP SNPs between RA patients and healthy controls. We also investigated the relationships between SNP genotypes and the RF levels and anti-synthetic cyclic citrullinated peptide (CCP) levels in RA patients. We then calculated the haplotype frequencies defined by these SNPs for both groups. The genotype and allele frequencies of the TSLP SNPs did not differ significantly between the RA patients and the healthy controls. We also found that TSLP SNPs in the RA patients had no significant association with the levels of RF or anti-CCP. Our results suggest that TSLP SNPs are not associated with susceptibility to RA.

Establishment of Genetic Characteristics and Individual Identification System Using Microsatellite Loci in Jeju Native Horse (초위성체 DNA를 이용한 제주마 집단의 품종특성 및 개체식별 체계설정)

  • Cho, Byung-Wook;Jung, Ji-Hye;Kim, Sang-Wook;Kim, Heui-Soo;Lee, Hak-Kyo;Cho, Gil-Jae;Song, Ki-Duk
    • 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.

Standardization and Usefulness of ISAG Microsatellite Markers for Individual Identification and Parentage Verification in Horse Breeds (말에서 개체식별 및 친자확인을 위한 ISAG Microsatellite Marker의 유용성 및 표준화)

  • Kwon, Do-Yeon;Cho, Gil-Jae
    • Journal of Veterinary Clinics
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    • v.26 no.3
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    • pp.220-225
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    • 2009
  • The present study demonstrates a new approach that enables effective horse parentage testing using 22 ISAG microsatellite markers involving 6 heads of Thoroughbred horse(TB) and non-TB. In the comparison allele distribution between these horses, the alleles found in the TB were numerously detected in the non-TB. As results, we confirmed that these ISAG microsatellite markers might apply the pedigree registration of Korean native horse(Jeju horse).

Genetic Polymorphism of Avian Leukosis Virus Host Receptors in Korean Native Chickens and Establishment of Resistant Line

  • Lee, Kyung Youn;Shin, Yun Ji;Han, Jae Young
    • Korean Journal of Poultry Science
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    • v.49 no.2
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    • pp.99-108
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    • 2022
  • Avian leukosis virus (ALV) is a highly contagious retrovirus that causes tumors and has resulted in great economic loss worldwide owing to its high transmission rate. Various ALV viral subgroups exist, with infections occurring via specific host receptors. The susceptibility or resistance of avian species to the ALV-A and K subgroups is determined by the host receptor, the tumor virus locus A (tva) gene, while that to ALV-B depends on another host receptor, the tumor virus locus B (tvb) gene. The resistance alleles of tva and tvb have primarily been identified in China, but none have beendetected in Korea. We analyzed the frequencies of tva and tvb genotypes in White Leghorn (WL), Korean Ogye (KO), and Korean native chicken (KNC) breeds, and assessed the resistance to ALV subgroups. In WL, both tva and tvb had various genotypes, including susceptibility and resistance alleles, whereas in KO, tva and tvb resistance alleles were dominant. In KNC, tva susceptibility and resistance alleles were mixed, whereas tvb resistance alleles were dominant. In addition, we showed that there were differences in the splicing pattern of tva transcripts and the expression level of tvb transcripts within breeds. Finally, we confirmed that ALV resistance depended on KO and KNC genotypes by in vitro infection of chicken embryonic fibroblasts with ALV. These results highlight that some KO and KNC individuals are naturally resistant to ALV subgroups A, B, and K, and will facilitate the preservation of economically superior traits through selective breeding.

Study on the Analysis of β-lactoglobulin and κ-casein Genotypes of Cattle using Polymerase Chain Reaction (PCR 기법을 이용한 축우의 β-lactoglobulin 및 κ-casein 유전자형 분석에 관한 연구)

  • Sang, Byung Chan;Ryoo, Seung Heui;Lee, Sang Hoon;Song, Chi Eun;Nam, Myung Soo;Chon, Byung Soon
    • 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.

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Allelic Association of the Dopamine D4 Receptor Gene in Korean Alcoholism (한국인 알코올 중독환자에서 도파민 D4 수용체의 대립 유전자 연관성에 대한 연구)

  • Ryu, Seung Ho;Lee, Min Soo
    • Korean Journal of Biological Psychiatry
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    • v.8 no.2
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    • pp.246-250
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    • 2001
  • The dopamine D4 receptor gene has a hypervariable segment in the coding region characterized by a varying number of 48bp repeats in exon III of the gene. Varying the numbers of repeated segments may change the length, structure, and function of the receptor, which makes this gene a possible candidate for variations in dopamine-related behaviors, such as alcoholism and drug abuse. We evaluated the dopamine D4 receptor genotype in male alcoholics and normal controls. All alcoholics and controls were unrelated and from the Korean population. Genotype and allele frequencies in 67 alcoholics were compared to 67 controls who were free of alcohol abuse, substance abuse, and major mental illness. No association was found between the dopamine D4 receptor allele and alcoholism. This result indicate that there is no association of the dopamine D4 receptor with alcoholism in Korean. Further systemized investigation to determine the role of dopamine D4 receptor gene in alcoholism with a larger sample size will be required.

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A Study of Genetic Polymonhisms of HLA-class I and II Genes Using Polymerase Chain Reaction (중합효소연쇄반응을 이용한 HLA-class I, II 유전자군의 유전적 다형성에 관한 연구)

  • Kyung-Ok Lee
    • Biomedical Science Letters
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    • v.4 no.1
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    • pp.11-25
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    • 1998
  • The HLA genes located in the short arm of chromosome 6 specify heterodimeric glycoproteins involved in the regulation of the immune response. Recently, in the elucidation of HLA polymorphism, serological and cellular typing methods have been replaced by DNA typing using polymerase chain reaction (PCR). The purpose of this study was to establish the HLA DNA typing methods and determine gene frequencies of HLA molecules in Koreans. PCR-SSP (sequence specific primers) and PCR-RFLP (restriction fragment length polymorphism) techniques were used for the analysis of HLA-A, -B, -C, DRBl genes and HLA-DQAl, DQBl, DPBl genes, respectively. The results of B-lymphoblastoid cells used for control experiment were consistent with the previous data identified in the 11th International Histocompatibility Workshop. Seventeen, 23, 16, 8, 16, 13 and 37 types of HLA-A, B, C, DQAl, DQBl, DPBl and DRBl alleles were found, respectively, in a total of unrelated 120 Korean individuals. The most frequent HLA alleles were $A^*$02 (27.0%), B$^*$40 (17.6%), Cw$^*$01 (19.2%), DQAl$^*$0301 (32.1%), DQBl$^*$0303 (12.9%), DPBl$^*$0501 (31.3%) and DRBl$^*$1501 (9.2%) among Koreans. This study shows that DNA typing method using PCR technique is a relatively simple, fast and practical tool for the determination of the HLA-class I and II genes. Moreover, the data of HLA gene frequencies could be useful for the Korean database before clinical applications, including organ and unrelated bone marrow transplantation, anthropological study, disease association and individual identification.

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