• Title/Summary/Keyword: 유전적 다형성

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Morphological Characteristics and Genetic Diversity Analysis of Cultivated Sancho (Zanthoxylum schinifolium) and Chopi (Zanthoxylum piperitum) in Korea (국내 재배지의 산초(Zanthoxylum schinifolium)와 초피(Zanthoxylum piperitum)의 형태학적 특성과 유전적 다양성)

  • Ryu, Jaihyunk;Choi, Hae-Sik;Lyu, Jae-il;Bae, Chang-Hyu
    • Korean Journal of Plant Resources
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    • v.29 no.5
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    • pp.555-563
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    • 2016
  • The morphological characteristics and genetic relationships among 32 germplasms of Zanthoxylum schinifolium and Zanthoxylum piperitum collected from two farms in Korea were investigated. The traits with the most variability were seed color, leaf size, and spine size. The intraspecific polymorphism of Z. schinifolium and Z. piperitum was 96.5% and 60.3%, respectively. The genetic diversity and Shannon’s information index values ranged from 0.11 to 0.33 and 0.19 to 0.50, with average values of 0.26 and 0.42, respectively. Two ISSR primers (UBC861 and UBC862) were able to distinguish the different species. The genetic similarity matrix (GSM) revealed variability among the accessions ranging from 0.116 to 0.816. The intraspecific GSM for Z. schinifolium and Z. piperitum was 0.177-0.780 and 0.250-0.816, respectively. The GSM findings indicate that Z. schinifolium and Z. piperitum accessions have high genetic diversity and possess germplasms qualifying as good genetic resources for cross breeding. The clustering analysis separated Z. schinifolium and Z. piperitum into independent groups, and all accessions could be classified into three categories. Z. Schinifolium var. nermis belonged to independent groups. Comparison of the clusters based on morphological analysis with those based on ISSR data resulted in an unclear pattern of division among the accessions. The study findings indicate that Z. schinifolium and Z. piperitum accessions have genetic diversity, and ISSR markers were useful for identifying Z. schinifolium and Z. piperitum.

Association Study Between the C3123A Polymorphism of the Angiotensin II Type 2 Receptor Gene in the Human X Chromosome and Essential Hypertension in Koreans (한국인에서 Angiotensin II Type 2 Receptor 유전자에 존재하는 C3123A 다형선과 본태성 고혈압과의 관련성에 관한 연구)

  • Kang Byung Yong;Bae Joon Seol;Lee Kang Oh
    • Environmental Analysis Health and Toxicology
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    • v.20 no.1
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    • pp.39-45
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    • 2005
  • Renin-angiotensin system (RAS)은 혈압 조절에 중요한 역할을 수행하는 생리적 조절계로써, 이 system 을 구성하는 유전자들의 이상은 본태성 고혈압의 발병과 유의하게 관련된 것으로 알려졌다. RAS의 주요한 구성 성분인 angiotensin II는 2종류의 수용체인 angiotensin II type I receptor(AT₁R)와 angiotensin II type I receptor(AT₂R)에 의해 그 효과가 매개되기 때문에, 이 수용체를 암호하는 유전자는 본태성 고혈압의 유력한 후보 유전자라고 볼 수 있다. 현재가지의 연구에 의하면, AT₁R 유전자에 존재하는 유전적 변이와 본태성 고혈압과의 관련성에 관해서는 많은 보고들이 있었지만, AT₂R 유전자에 존재하는 유전적 변이 가 본태성 고혈압에 유의한 효과를 나타내는 지에 관해서는 이렇다할 연구 성과가 별로 없는 실정이다. 이에 본 연구에서는 한국인 집단을 대상으로 하여, AT₂R 유전자에 존재하는 C3123A 다형성이 한국인 집단에서 본태성 고혈압과 유의한 관련성이 있는 지를 분석하였다. 이 유전자는 인간의 X 염색체에 존재하기 때문에, 여성인 경우에는 CC, CA및 AA로 이루어진 3유전자형이 존재하지만, 남성인 경우에는 C와 A로 이루어진 2종류의 대립 유전자로 구성되어 있기 때문에, 본 연구에서는 남성과 여성을 개별적으로 나누어서 분석하였다. 연구 결과, AT₂R 유전자에 존재하는 C3123A 다형성은 남녀 모두에서 본태성 고혈압과 유의한 관련성을 나타내지 않았다(P>0.05). 그렇지만, 이 다형성에 대한 대립 유전자 빈도를 서양인 집단과 비교했을 경우에는, 한국인을 대상으로 한 본 연구에서 A 대립 유전자 빈도가 0.33인 반면에 서양인 집단은 그 빈도가 0.43~0.48로 한국인 집단보다 높은 값을 나타내었다. 따라서, AT₂R 유전자에 존재하는 C3123A 다형성과 본태성 고혈압과의 관련성에 대해서는 한국인과 유전적 배경이 다른 서양인 집단을 대상으로 한 추시가 필요할 것으로 사료된다.

Variation Analysis of Long-term in vitro Cultured Cymbidium goeringii Lindley and Cymbidium kanran Makino (장기간 기내 배양한 춘란(Cymbidium goeringii Lindley) 및 한란(Cymbidium kanran Makino)의 변이 비교)

  • Ryu, Jai-Hyunk;Lee, Hyo-Yeon;Bae, Chang-Hyu
    • Korean Journal of Plant Resources
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    • v.24 no.2
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    • pp.139-149
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    • 2011
  • RAPD (random amplified polymorphic DNA) analysis was examined to detect variation of in vitro cultured 30 rhizomes of Cymbidium goeringii Lindley and Cymbidium kanran Makino, with long-term (8 years) subculture, respectively. Out of 151 DNA bands detected, the 40 were polymorphic with a polymorphic rate 26.4% in the C. goeringii. Out of 155 DNA bands detected, the 56 were polymorphic with a polymorphic rate 36.1% in the C. kanran. Genetic similarity matrix (GSM) shows from 0.825 to 1.00 with an average of 0.944 in the rhizomes of C. goeringii and 0.812 to 1.00 with an average of 0.913 in the C. kanran. According to the clustering analysis, C. goeringii was divided into 1 group and 2 independent individuals and its structure of clustering was simple than that of C. kanran. The higher polymorphism and the decreased GSM were showed in the long-term in vitro cultured C. goeringii and C. kanran supplemented with growth regulators. The results provide as fundamental data to develop a new materials for plant breeding and resources plant.

Genomic Polymorphisms of Genome DNA by Polymerase Chain Reaction-RAPD Analysis Using Arbitrary Primers in Rainbow Trout (PCR-RAPD 기법에 의한 무지개송어 Genome DNA 의 다형현상)

  • Yoon, J.M.
    • Korean Journal of Animal Reproduction
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    • v.23 no.4
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    • pp.303-311
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    • 1999
  • Nuclear DNA was isolated from the sperm cells representing genetic characteristics and genomic polymorphisms of rainbow trout by polymerase chain reaction(PCR) amplification of DNA using arbitrary primers. Genomic DNA fingerprints were generated from rainbow trout sperm DNA by polymerase chain reaction amplification using 20 arbitrary decamers as primers. Out of these primers, 4 generated 17 highly reproducible RAPD markers, producing almost six polymorphic bands per primers. Four of 6 primers tested generated amplified fragments which were polymorphic between different individuals. Polymorphic DNA fragments were reproducibly amplified from independent DNA preparations made from individuals. Rainbow trout was distinctly observed 3 specific DNA markers (2. 3, 2.0 and 1.3kb) in bandsharing. Individual fragments generated using the same arbitrary primer, demonstrated that a single primer detected at least three independent genomic polymorphisms in rainbow trout sperm DNA. The RAPD polymorphism generated by this primer may be used as a genetic marker for individual identification The RAPD-PCR technique has been shown to reveal informative polymorphism in many species of fish. The present results demonstrate that RAPD markers are abundant, reproducible and provide a basis for future gene mapping and MAS in these important aquaculture species using RAPD polymorphic markers. It is concluded that RAPD polymorphisms are useful as genetic markers for fish breed differentiation.

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Genetic Analysis of Cultivars in Pleurotus spp. of Korea by URP-PCR Polymorphism (URP-PCR 다형성에 의한 국내 느타리버섯 품종의 유전적 특성 분석)

  • Kim, Jong-Kun;Lim, Seon-Hwa;Lee, Dae-Sung;Chi, Jeong-Hyun;Seo, Geon-Sik;Ju, Young-Cheol;Kang, Hee-Wan
    • The Korean Journal of Mycology
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    • v.35 no.2
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    • pp.61-67
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    • 2007
  • Twelve URP primers were used to assess genetic characteristics of oyster mushroom including 59 Pleurotsu ostreatus cultivars, two of P. florida cultivars, one P. sajor-caju cultivars, one P. abalonus cultivar and two P. eryngii cultivars registered in Korea. Six URP primers produced PCR polymorphic bands within and between the Pleurotus species. Primer URP2F produced distinct cultivar specific PCR polymorphic bands that profiled to 15 cultivar types. PCR polymorphic bands amplified by URP2F, URP6R, URP4R and URP2R were used for UPGMA cluster analysis. Fifty nine cultivars of Pleurotus ostreatus are genetically clustered into 5 groups, showing genetic similarity over 70% among them and P. abalonus. P. eryngii and P. sajor-caju, were involved in outside groups.

Association of Dopamine D4 Receptor(DRD4) Gene Polymorphism with Korean Schizophrenic Patients (정신분열병에서 도파민 D4 수용체(DRD4) 유전자의 다형성)

  • Lee, Hong Seock;Lee, Min Soo;Han, Deock-Jeong;Lee, Heon-Jeong
    • Korean Journal of Biological Psychiatry
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    • v.7 no.2
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    • pp.152-158
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    • 2000
  • Background : No association between schizophrenia and dopamine D4 receptor polymorphisms have been reported. Despite these results, it is premature to exclude the association. It has been suggested that the susceptibility to develop schizophrenia could result from variation at a number loci which may interact or coact with each other. Therefore, we investigated a possible association of combinations of exon III 48bp polymorphism[D4E3] and exon I 12bp polymorphism of the DRD4 gene [D4E1] with schizophrenia. Methods : 207 unrelated Korean schizophrenic patients and 191 healthy controls were recruited. DRD4 genotype was established using the polymerase chain reaction. Statistical analysis consisted of ${\chi}^2$ tests for Hardy-Weinberg proportions and genotypic and allelic frequencies in the patients and control groups. Results : There were no statistically significant differences in the each polymorphisms between schizophrenics and controls. And all genotype frequencies were within Hardy-Weinberg expectations. When the combinations of the polymorphism in schizophrenia and controls were compared, however, there were significant differences at $A1A2^*2/4$ in the distributions of the combinations of D4E1 and D4E3(p<0.01). Conclusions : These findings suggest that the certain combination of D4E1 and D4E3($A1A2^*2/4$) has the protective role to a susceptibility for schizophrenia.

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PRaDA : Web-based analyzer for Pathway Relation and Disease Associated SNP (웹 기반 단일염기다형성 연관 패스웨이 분석 도구)

  • Yu, Kijin;Park, Soo Ho;Ryu, Keun Ho
    • Journal of Digital Contents Society
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    • v.19 no.9
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    • pp.1795-1801
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    • 2018
  • Genome-Wide Association Study (GWAS) have been used to identify susceptibility genes for complex human diseases and many recent studies succeed to report common genetic factors for various diseases. Unfortunately, it is hard to understand all biological functions and mechanisms around the complex disease with GWAS only although the number of known associated genes with diseases is increased drastically because GWAS is a single locus based approach while not a gene but numerous factors may affect a disease associated pathways. PRaDA generates a combined report with genes, pathways and Gene Ontology (GO) using single nucleotide polymorphism (SNP) analysis output. The PRaDA reports not only directly associated pathways but also functionally related ones for identifying accumulated effects of low p-value SNPs. Through integrated information including indirect functional effects, user could have insights of overall disease mechanisms and markers.

Effect of Glutathione S-Transferase Polymorphisms on the Antioxidant System (Glutathione S-Transferase 유전적 다형성이 항산화 체계에 미치는 영향)

  • Jeon, Gyeong-Im;Park, Eun-Ju
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.36 no.6
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    • pp.708-719
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    • 2007
  • Glutathione S-transferase genotypes GSTT1, GSTM1 and GSTP1 were characterized in 104 healthy male and female subjects and compared with parameters of oxidative stress at the level of DNA and lipids, with antioxidant enzymes, and with plasma antioxidants in smokers and non.smokers. Of the 104 subjects studied, 57.4% were GSTT1 present and 47.6% were GSTM1 present. The GSTP1 polymorphisms a and b were represented as follows: a/a, 75.5%; a/b, 21.6%; b/b type, 2.9%. The GSTT1 null genotype was associated with decreased glutathione in erythrocytes and elevated lymphocytes DNA damage. GST-Px was higher in GSTT1 null compared with GSTT1 present type. The homozygous GSTP1 genotype was not associated with any antioxidant status or DNA damage. The difference in plasma ${\alpha}$-carotene and erythrocytes GSH-Px and GST activities between smokers and non-smokers was detected in the GSTT1 null genotype. Plasma ${\gamma}$-tocopherol and ${\beta}$-carotene decreased significantly in smokers having GSTM1 null genotype. When GSTT1 and GSTM1 were combined, plasma lycopene and erythrocyte GST were reduced in smokers in both null types of these genes. As for GSTP1 genotype, plasma ${\alpha}$-carotene and erythrocytes GSH-Px decreased significantly in smokers with GSTP1 b/b, while erythrocytes GSH-Px activities decreased in smokers with GSTP1 a/b. The different ${\beta}$-carotene level between smokers and non-smokers was seen with both GSTP1 a/a and a/b genotype. It seems that polymorphisms in the phase II metabolizing enzyme glutathione S-transferase may be important determinants of commonly measured biomarkers.

Fc ${\gamma}R$ genetic polymorphisms of periodontal disease in Korean population (한국인 치주질환 환자에서 Fc ${\gamma}R$ 유전자다형성에 관한 연구)

  • Shin, Seung-Yun;Kim, Kyoung-Hwa;Park, Ok-Jin;Lee, Yong-Moo;Rhyu, In-Chul;Kim, Kack-Kyun;Ku, Young;Yoshie, Hiromasa;Han, Soo-Boo;Chung, Chong-Pyoung
    • Journal of Periodontal and Implant Science
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    • v.34 no.3
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    • pp.671-681
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    • 2004
  • Genomic Project 이후로 다양한 질환에 있어서 유전적인 영향에 관한 연구가 진행되고 있다. 이 연구의 목적은 한국인 치주질환 환자에서 Fc ${\gamma}R$ 유전자의 유전자다형성과 치주질환 특성과의 관련성을 알아보는 것이다. 치주적으로 건강한 한국인 90명(대조군, 남자64명, 여자26명), 중도 만성 치주염환자 40명(severe chronic periodontitis patients; severe CP, 남자 24명, 여자 16명)을 대상으로 임상지수(치주낭 깊이, 입상부착소실, 치은지수, 치태지수, 탐침 후 출혈지수, 치조골소실)를 측정하였다. 또한 이들의 정맥혈에서 추출한 DNA를 PCR(Polymerase Chain Reaction)법, 전기영동법 등을 이용하여 Fc ${\gamma}RIIIa$ , Fc ${\gamma}RIIIb$의 대립유전자의 존재여부를 확인하였다. 이를 바탕으로 각 유전자의 다형성 및 Fc ${\gamma}R$ 복합유전자형 (Fc ${\gamma}R$ composite genotype)을 확인하여, 각 군 간을 비교하였다. 치주질환의 특성과 유전자 다형성과의 관련성을 알아보기 위하여 Fc ${\gamma}R$ 유전자에 대한 유전자다형성을 조사한 결과 다음과 같은 결과를 얻을 수 있었다. 1. Fc ${\gamma}RIIla$에 대한 유전자다형성 연구결과 대조군과 severe CP, AgP군 사이에서, severe CP와 AgP군 사이에서는 대립유전자분포가 서로 유의성 있는 차이를 나타내었지만(p<0.05), Fc ${\gamma}RIIlb$에서는 유의성 있는 차이를 보이지 않았다(p>0.05). 2. Fc ${\gamma}R$ 복합유전자형간의 비교에서 유의성 있는 차이를 발견할 수 없었다(p>0.05). 이와 같은 결과를 종합하여 볼 때 실험대상 한국인 치주염환자에서 Fc ${\gamma}R$ 유전자에 대한 다형성분석에서 Fc ${\gamma}RIIIa$ 대립유전자가 치주염에 대한 감수성과 관련되어 있다고 생각된다. 이 연구의 결과는 유전자의 차이가 치주질환의 감수성 판단의 자료로 활용할 수 있는 가능성을 보여주고 있다.

NEONATAL BEHAVIORAL CHARACTERISTICS AND DOPAMINE TRANSPORTER GENE AND DOPAMINE D2, D3, D4 RECEPTOR GENE POLYMORPHISMS (신생아 행동 특성과 Dopamine Transporter 유전자 및 Dopamine D2, D3, D4 수용체 유전자의 다형성)

  • Park, Young-Nam;Kim, Dae-Kwang;Kim, Sung-Wook
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.12 no.2
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    • pp.179-191
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    • 2001
  • Objectives:This study evaluated the association between behavioral characteristics and polymorphisms in DAT1, DRD2, DRD3, and DRD4 genes. Methods:The subjects were 114 neonates, who were born by normal spontaneous vaginal delivery and had no physical problems. The behavioral characteristics were evaluated using Neonatal Behavioral Assessment Scale(NBAS) at $17.8{\pm}7.0$ hours after their birth to minimize environmental influences, and cord blood was used to analyze the gene polymorphisms. Results:In comparison to DAT1 gene 10/10 genotype group(N=93), other genotype group(N=19) showed significantly high NBAS scores on social-interaction, state organization, and state regulation. DRD2 gene Ser311/Cys311, TaqI A, and TaqI B polymorphisms showed no significant differences on NBAS scores when they were grouped by genotypes. DRD3 gene polymorphism and DRD4 gene promotor polymorphism showed no significant difference on NBAS scores when they were grouped by genotypes. In comparison to the short repeats(N=102), long repeats(N=10) in DRD4 gene showed significantly high habituation score of NBAS. Conclusion:These results suggest that the genetic effects of the neonatal behavioral characteristics may be mediated via DAT1 and DRD4 genes.

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