• 제목/요약/키워드: allele frequency

검색결과 397건 처리시간 0.029초

Development of a Genome-Wide Random Mutagenesis System Using Proofreading-Deficient DNA Polymerase ${\delta}$ in the Methylotrophic Yeast Hansenula polymorpha

  • Kim, Oh Cheol;Kim, Sang-Yoon;Hwang, Dong Hyeon;Oh, Doo-Byoung;Kang, Hyun Ah;Kwon, Ohsuk
    • Journal of Microbiology and Biotechnology
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    • 제23권3호
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    • pp.304-312
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    • 2013
  • The thermotolerant methylotrophic yeast Hansenula polymorpha is attracting interest as a potential strain for the production of recombinant proteins and biofuels. However, only limited numbers of genome engineering tools are currently available for H. polymorpha. In the present study, we identified the HpPOL3 gene encoding the catalytic subunit of DNA polymerase ${\delta}$ of H. polymorpha and mutated the sequence encoding conserved amino acid residues that are important for its proofreading 3'${\rightarrow}$5' exonuclease activity. The resulting $HpPOL3^*$ gene encoding the error-prone proofreading-deficient DNA polymerase ${\delta}$ was cloned under a methanol oxidase promoter to construct the mutator plasmid pHIF8, which also contains additional elements for site-specific chromosomal integration, selection, and excision. In a H. polymorpha mutator strain chromosomally integrated with pHIF8, a $URA3^-$ mutant resistant to 5-fluoroorotic acid was generated at a 50-fold higher frequency than in the wild-type strain, due to the dominant negative expression of $HpPOL3^*$. Moreover, after obtaining the desired mutant, the mutator allele was readily removed from the chromosome by homologous recombination to avoid the uncontrolled accumulation of additional mutations. Our mutator system, which depends on the accumulation of random mutations that are incorporated during DNA replication, will be useful to generate strains with mutant phenotypes, especially those related to unknown or multiple genes on the chromosome.

틱장애와 도파민 D2 수용체 유전자와의 연합 연구 (Association Study between Tic Disorder and Dopamine D2 Receptor Gene Polymorphism in Korean Population)

  • 이소영;조인희;김선미;이민수;정한용
    • 생물정신의학
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    • 제13권4호
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    • pp.299-304
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    • 2006
  • Objectives : The purpose of the present study was to investigate whether the TaqI A polymorphism of dopamine receptor D2 gene(DRD2) is associated with Tourette syndrome(TS) and chronic motor tic disorder(CMT) in Korean population. Methods : DRD2 TaqI A RFLP genotyping was carried out with DNA extracted from blood samples of 75 patients with tic disorders(47 with TS and 28 with CMT) and 90 healthy subjects. Genotype and allelic frequencies for the DRD2 gene polymorphisms of the tic disorder group as a whole were compared to those of the control group. Separating the TS group, thereafter, the frequency of genotypes and alleles were compared to those of the controls. Results : The results demonstrated that genotype and allele distributions for the DRD2 gene polymorphism in the tic disorder as a whole, TS, and control groups were not significantly different. Conclusion : No association was found for DRD2 gene, TS and CMT. The data suggest that DRD2 gene may not be a useful marker for the prediction of the susceptibility of tic disorder.

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한국산 꿩의비름속(돌나물과) 식물의 유전적, 형태적 유연관계 (Genetic and Morphological Relationship among Korean Hylotelephium Species(Crassulaceae))

  • 이승훈;박기룡
    • 식물분류학회지
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    • 제36권4호
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    • pp.293-308
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    • 2006
  • 종간 유연관계와 다배체종의 기원을 규명하기 위해 한국산 꿩의비름속 식물 6종 20집단에 대해 형태형질과 동위효소 자료를 이용하여 유전적, 형태적 연구를 수행하였다. 형태 형질 분석결과에 의하면 삼배체인 새끼꿩의비름은 세잎꿩의비름과 매우 가까운 유연관계를 보여 주고 있고, 동위효소 분석에서도 높은 빈도로 나타나는 대립유전자에서도 두 종이 매우 유사한 양상을 보여 주었다. $PGI-1^b$의 경우 두 종에서만 독특하게 고정되어 있어 세잎꿩의비름이 새끼꿩의비름의 이배체 조상일 가능성을 시사하였다. 하지만 $ALD-1^c$ 대립인자의 경우, 새끼꿩의비름에서만 독특하게 나타나며, 꿩의비름과 큰꿩의비름에서 공통으로 나타나는 대립인자들이 새끼꿩의비름에서는 나타나지 않아 위 두 종이 새끼꿩의비름의 또 다른 사배체 조상일 가능은 희박하다고 하겠다. 우리나라 특산종인 섬꿩의비름은 형태적으로나 유전적으로 꿩의비름과 매우 유사한 양상을 보여주고 있어 꿩의비름으로부터 직접 또는 공통의 조상으로부터 나왔을 가능성이 크다. 또한, 둥근잎꿩의비름은 꿩의비름, 섬꿩의비름과 가까운 유연관계를 보여주고 있다.

Genetic Variations of ABCC2 Gene Associated with Adverse Drug Reactions to Valproic Acid in Korean Epileptic Patients

  • Yi, Ji Hyun;Cho, Yang-Je;Kim, Won-Joo;Lee, Min Goo;Lee, Ji Hyun
    • Genomics & Informatics
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    • 제11권4호
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    • pp.254-262
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    • 2013
  • The multidrug resistance protein 2 (MRP2, ABCC2) gene may determine individual susceptibility to adverse drug reactions (ADRs) in the central nervous system (CNS) by limiting brain access of antiepileptic drugs, especially valproic acid (VPA). Our objective was to investigate the effect of ABCC2 polymorphisms on ADRs caused by VPA in Korean epileptic patients. We examined the association of ABCC2 single-nucleotide polymorphisms and haplotype frequencies with VPA related to adverse reactions. In addition, the association of the polymorphisms with the risk of VPA related to adverse reactions was estimated by logistic regression analysis. A total of 41 (24.4%) patients had shown VPA-related adverse reactions in CNS, and the most frequent symptom was tremor (78.0%). The patients with CNS ADRs were more likely to have the G allele (79.3% vs. 62.7%, p=0.0057) and the GG genotype (61.0% vs. 39.7%, p=0.019) at the g.-1774delG locus. The frequency of the haplotype containing g.-1774Gdel was significantly lower in the patients with CNS ADRs than without CNS ADRs (15.8% vs. 32.3%, p=0.0039). Lastly, in the multivariate logistic regression analysis, the presence of the GG genotype at the g.-1774delG locus was identified as a stronger risk factor for VPA related to ADRs (odds ratio, 8.53; 95% confidence interval, 1.04 to 70.17). We demonstrated that ABCC2 polymorphisms may influence VPA-related ADRs. The results above suggest the possible usefulness of ABCC2 gene polymorphisms as a marker for predicting response to VPA-related ADRs.

Allelic Diversity and Geographical Distribution of the Gene Encoding Plasmodium falciparum Merozoite Surface Protein-3 in Thailand

  • Sawaswong, Vorthon;Simpalipan, Phumin;Siripoon, Napaporn;Harnyuttanakorn, Pongchai;Pattaradilokrat, Sittiporn
    • Parasites, Hosts and Diseases
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    • 제53권2호
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    • pp.177-187
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    • 2015
  • Merozoite surface proteins (MSPs) of malaria parasites play critical roles during the erythrocyte invasion and so are potential candidates for malaria vaccine development. However, because MSPs are often under strong immune selection, they can exhibit extensive genetic diversity. The gene encoding the merozoite surface protein-3 (MSP-3) of Plasmodium falciparum displays 2 allelic types, K1 and 3D7. In Thailand, the allelic frequency of the P. falciparum msp-3 gene was evaluated in a single P. falciparum population in Tak at the Thailand and Myanmar border. However, no study has yet looked at the extent of genetic diversity of the msp-3 gene in P. falciparum populations in other localities. Here, we genotyped the msp-3 alleles of 63 P. falciparum samples collected from 5 geographical populations along the borders of Thailand with 3 neighboring countries (Myanmar, Laos, and Cambodia). Our study indicated that the K1 and 3D7 alleles co-existed, but at different proportions in different Thai P. falciparum populations. K1 was more prevalent in populations at the Thailand-Myanmar and Thailand-Cambodia borders, whilst 3D7 was more prevalent at the Thailand-Laos border. Global analysis of the msp-3 allele frequencies revealed that proportions of K1 and 3D7 alleles of msp-3 also varied in different continents, suggesting the divergence of malaria parasite populations. In conclusion, the variation in the msp-3 allelic patterns of P. falciparum in Thailand provides fundamental knowledge for inferring the P. falciparum population structure and for the best design of msp-3 based malaria vaccines.

초위성체를 이용한 한국 재래닭의 원산지 추적 및 개체 식별 방법에 관한 연구 (Method Discrimination for Product Traceability and Identification of Korean Native Chicken using Microsatellite DNA)

  • 박미현;오재돈;전광주;공홍식;상병돈;최철환;연성흠;조병욱;이학교
    • 한국유기농업학회지
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    • 제12권4호
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    • pp.451-461
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    • 2004
  • In an animals, identification system has been widely used by ear tag with dummy code and blood typing for parernity. Also, genotyping methods were using for useful mean of individual identification for live animals. In the case of genotyping estimation of gene in population of korean native chicken. In this study, we tested for development of genetic markers used it possible to determination of individual identification system. The candidate genetic markers were used already bow 10 of microstalite DNA sequence information in chromosome No. 1 and 14. Result of analysis for genotyping, the number of alleles of those microstatelites DNA was shown minimal 3 to 12 and the heterozygote expression frequency range was shown from 0.617 to 0.862. In our result, effective number of allele for each microsatellites DNA was shown 3~7, and the accuracy of individual identification was shown nearly 100%, when used with 6 genetic marker. This study was about genotyping method for identification used specific genetic marker form microsatellite DNA in the brand marketing of korean native chicken. Our results suggest that genotyping method used specific genetic marker from microsatellite DNA might be very useful for determination of individual identification.

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Genetic characteristics of Korean Jeju Black cattle with high density single nucleotide polymorphisms

  • Alam, M. Zahangir;Lee, Yun-Mi;Son, Hyo-Jung;Hanna, Lauren H.;Riley, David G.;Mannen, Hideyuki;Sasazaki, Shinji;Park, Se Pill;Kim, Jong-Joo
    • Animal Bioscience
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    • 제34권5호
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    • pp.789-800
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    • 2021
  • Objective: Conservation and genetic improvement of cattle breeds require information about genetic diversity and population structure of the cattle. In this study, we investigated the genetic diversity and population structure of the three cattle breeds in the Korean peninsula. Methods: Jeju Black, Hanwoo, Holstein cattle in Korea, together with six foreign breeds were examined. Genetic diversity within the cattle breeds was analyzed with minor allele frequency (MAF), observed and expected heterozygosity (HO and HE), inbreeding coefficient (FIS) and past effective population size. Molecular variance and population structure between the nine breeds were analyzed using a model-based clustering method. Genetic distances between breeds were evaluated with Nei's genetic distance and Weir and Cockerham's FST. Results: Our results revealed that Jeju Black cattle had lowest level of heterozygosity (HE = 0.21) among the studied taurine breeds, and an average MAF of 0.16. The level of inbreeding was -0.076 for Jeju Black, while -0.018 to -0.118 for the other breeds. Principle component analysis and neighbor-joining tree showed a clear separation of Jeju Black cattle from other local (Hanwoo and Japanese cattle) and taurine/indicine cattle breeds in evolutionary process, and a distinct pattern of admixture of Jeju Black cattle having no clustering with other studied populations. The FST value between Jeju Black cattle and Hanwoo was 0.106, which was lowest across the pair of breeds ranging from 0.161 to 0.274, indicating some degree of genetic closeness of Jeju Black cattle with Hanwoo. The past effective population size of Jeju Black cattle was very small, i.e. 38 in 13 generation ago, whereas 209 for Hanwoo. Conclusion: This study indicates genetic uniqueness of Jeju Black cattle. However, a small effective population size of Jeju Black cattle indicates the requirement for an implementation of a sustainable breeding policy to increase the population for genetic improvement and future conservation.

특정변화패턴 식별을 위한 염기서열 집단간의 다형성 분석 및 시각화 도구 (A Polymorphism Analysis and Visualization Tool for Specific Variation Pattern Identification in Groups of Nucleotide Sequences)

  • 이일섭;이건명
    • 융합정보논문지
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    • 제8권6호
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    • pp.201-207
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    • 2018
  • 유전체는 생명체가 가지고 있는 모든 유전적 정보를 담고 있다. 특정 종 내에서는 개체별로 고유의 특성이 나타나며, 이 특성은 유전체의 염기서열 분석을 통해 확인할 수 있다. 종내 개체들 사이에 조금씩 다른 염기에 대해 유전적 연관성을 규명 짓고, 더 나아가 질병과의 연관성을 찾는 전장유전체 연관분석 연구가 많이 진행되고 있다. 종 내의 조금씩 발생하는 염기변이를 파악하는 것은 개체의 다형성을 파악하기 위해 중요하다. 이 논문에서는 종 내 여러 개체의 염기서열에서 대립형질 빈도의 특정변화패턴을 쉽게 파악할 수 있는 분석 및 시각화 도구를 제안한다. 그리고 수두 대상포진 바이러스의 계대 배양한 pOka strain 염기서열 데이터를 이용해 실험하여 분석과 시각화의 실용성을 보인다. 본 제안도구를 통해 종 내의 대립형질 빈도의 변화를 탐색하고 유전적 요인을 찾는 연구효율의 증진을 기대할 수 있다.

Development of Polymorphic Simple Sequence Repeat Markers using High-Throughput Sequencing in Button Mushroom (Agaricus bisporus)

  • Lee, Hwa-Yong;Raveendar, Sebastin;An, Hyejin;Oh, Youn-Lee;Jang, Kab-Yeul;Kong, Won-Sik;Ryu, Hojin;So, Yoon-Sup;Chung, Jong-Wook
    • Mycobiology
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    • 제46권4호
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    • pp.421-428
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    • 2018
  • The white button mushroom (Agaricus bisporus) is one of the most widely cultivated species of edible mushroom. Despite its economic importance, relatively little is known about the genetic diversity of this species. Illumina paired-end sequencing produced 43,871,558 clean reads and 69,174 contigs were generated from five offspring. These contigs were subsequently assembled into 57,594 unigenes. The unigenes were annotated with reference genome in which 6,559 unigenes were associated with clusters, indicating orthologous genes. Gene ontology classification assigned many unigenes. Based on genome data of the five offspring, 44 polymorphic simple sequence repeat (SSR) markers were developed. The major allele frequency ranged from 0.42 to 0.92. The number of genotypes and the number of alleles ranged from 1 to 4, and from 2 to 4, respectively. The observed heterozygosity and the expected heterozygosity ranged from 0.00 to 1.00, and from 0.15 to 0.64, respectively. The polymorphic information content value ranged from 0.14 to 0.57. The genetic distances and UPGMA clustering discriminated offspring strains. The SSR markers developed in this study can be applied in polymorphism analyses of button mushroom and for cultivar discrimination.

Evaluation of Genetic Diversity and Population Structure Analysis among Germplasm of Agaricus bisporus by SSR Markers

  • An, Hyejin;Lee, Hwa-Yong;Shin, Hyeran;Bang, Jun Hyoung;Han, Seahee;Oh, Youn-Lee;Jang, Kab-Yeul;Cho, Hyunwoo;Hyun, Tae Kyung;Sung, Jwakyung;So, Yoon-Sup;Jo, Ick-Hyun;Chung, Jong-Wook
    • Mycobiology
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    • 제49권4호
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    • pp.376-384
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    • 2021
  • Agaricus bisporus is a popular edible mushroom that is cultivated worldwide. Due to its secondary homothallic nature, cultivated A. bisporus strains have low genetic diversity, and breeding novel strains is challenging. The aim of this study was to investigate the genetic diversity and population structure of globally collected A. bisporus strains using simple sequence repeat (SSR) markers. Agaricus bisporus strains were divided based on genetic distance-based groups and model-based subpopulations. The major allele frequency (MAF), number of genotypes (NG), number of alleles (NA), observed heterozygosity (HO), expected heterozygosity (HE), and polymorphic information content (PIC) were calculated, and genetic distance, population structure, genetic differentiation, and Hardy-Weinberg equilibrium (HWE) were assessed. Strains were divided into two groups by distance-based analysis and into three subpopulations by model-based analysis. Strains in subpopulations POP A and POP B were included in Group I, and strains in subpopulation POP C were included in Group II. Genetic differentiation between strains was 99%. Marker AB-gSSR-1057 in Group II and subpopulation POP C was confirmed to be in HWE. These results will enhance A. bisporus breeding programs and support the protection of genetic resources.