• 제목/요약/키워드: Sequence variation

검색결과 729건 처리시간 0.034초

Null Allele in the D18S51 Locus Responsible for False Homozygosities and Discrepancies in Forensic STR Analysis

  • Eom, Yong-Bin
    • 대한의생명과학회지
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    • 제17권2호
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    • pp.151-155
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    • 2011
  • Short tandem repeats (STRs) loci are the genetic markers used for forensic human identity test. With multiplex polymerase chain reaction (PCR) assays, STRs are examined and measured PCR product length relative to sequenced allelic ladders. In the repeat region and the flanking region of the commonly-used STR may have DNA sequence variation. A mismatch due to sequence variation in the DNA template may cause allele drop-out (i.e., a "null" or "silent" allele) when it falls within PCR primer binding sites. The STR markers were co-amplified in a single reaction by using commercial PowerPlex$^{(R)}$ 16 system and AmpFlSTR$^{(R)}$ Identifiler$^{(R)}$ PCR amplification kits. Separation of the PCR products and fluorescence detection were performed by ABI PRISM$^{(R)}$ 3100 Genetic Analyzer with capillary electrophoresis. The GeneMapper$^{TM}$ ID software were used for size calling and analysis of STR profiles. Here, this study described a forensic human identity test in which allelic drop-out occurred in the STR system D18S51. During the course of human identity test, two samples with a homozygous (16, 16 and 21, 21) genotype at D18S51 locus were discovered using the PowerPlex$^{(R)}$ 16 system. The loss of alleles was confirmed when the samples were amplified using AmpFlSTR$^{(R)}$ Identifiler$^{(R)}$ PCR amplification kit and resulted in a heterozygous (16, 20 and 20, 21) genotype at this locus each other. This discrepancy results suggest that appropriate measures should be taken for database comparisons and that allele should be further investigated by sequence analysis and be reported to the forensic community.

Variation of Potato virus Y Isolated from Potato, Tobacco, Pea and Weeds in Korea on the C-terminal Region of Coat Protein Gene and 3'Non-translated Region

  • Yun, W.S.;Jung, H.W.;Oh, M.H.;Hahm, Y.I.;Kim, K.H.
    • The Plant Pathology Journal
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    • 제18권3호
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    • pp.130-137
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    • 2002
  • Potato virus Y (PVY) is one of the most important viruses in many field crops in Korea. In this study, 31 PVY isolates were isolated from infected potato (Solanum tuberosum), tobacco (Nicotiana tabacum), pea (Pisum sativum), and weeds (Veronica persica, Lamium amplexicause and Capsella bursa-pastoris) showing different mosaic symptoms in Jeonbuk, Chungnam, Gangwon, and Gyeongbuk areas in Korea. The 640 nucleotide region containing the C-terminal portion of coat protein (CP) gene and 3'non-translated region (NTR) was amplified by reverse transcription-polymerase chain reaction (RT-PCR) using PVY-specific oligonucleotide primers. Sequence analyses of the amplified DNA fragments showed that the C-terminal portion of CP gene was not significantly different from that of previously reported PVY strains from potato (PVY-OK and -T) and tobacco (PVY-VN) in Korea. Homologies of the deduced CP amino acid sequences were 93.3-99.0% to corresponding regions of the other PVY strains including PV $Y^{N}$, PV $Y^{o}$ , PV $Y^{OK}$ , PV $Y^{T}$ , and PV $Y^{VN}$ . In contrast the sequences located at the 3'-NTR showed more diverse sequence homologies (76.4-99.7%). These results indicate that the C-terminal portion of the CP gene was relatively conserved while sequences at the 3'NTR were more diverse and variable over the host species and the regions where they were isolated.e isolated.

Variation in the Pathogenicity of Lily Isolates of Cucumber mosaic virus

  • Lee, Jin-A;Choi, Seung-Kook;Yoon, Ju-Yeon;Hong, Jin-Sung;Ryu, Ki-Hyun;Lee, Sang-Yong;Choi, Jang-Kyung
    • The Plant Pathology Journal
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    • 제23권4호
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    • pp.251-259
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    • 2007
  • Two isolates of Cucumber mosaic virus (CMV) originated from lily plants, named Ly2-CMV and Ly8-CMV, were compared with their pathological features in several host plants. Ly2-CMV and Ly8-CMV could induce systemic mosaic symptom in Nicotiana benthamiana, but Ly2-CMV could not systemically infect tomato and cucumber plants that have been used for CMV-propagative hosts. While Fny-CMV used as a control infected systemically the same host plants, producing typical CMV symptoms. Ly8-CMV could infect systemically two species of tobacco (N. tabacum cv. Xanthi-nc and N. glutinosa) and zucchini squash (Curcubita pepo), but Ly2 failed systemic infection on these plants. As resulted from tissue-print immunoblot assay, different kinetics of systemic movement between Ly2-CMV and Ly8-CMV were crucial for systemic infection in tobacco (cv. Xanthi-nc). Sequence analysis of full-length genome of two lily isolates showed Ly2 and Ly8 belonged to subgroup IA of CMV. The lily isolates shared overall 98 % sequence identity in their genomes. Coat protein, 3a protein, and 2b protein involved in virus movement was highly conserved in genomes of the isolates Ly2 and Ly8. Although there is the low frequency of recombinants and reassortants in natural CMV population, phylogenetic analysis of each viral protein among a number of CMV isolates suggested that genetic variation in a defined population of CMV lily isolates was stochastically produced.

모양 변화 축적도를 이용한 움직이는 객체의 표현 및 검색 방법 (A method of describing and retrieving a sequence of moving object using Shape Variation Map)

  • 최민석;김회율
    • 정보처리학회논문지B
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    • 제11B권1호
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    • pp.1-6
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    • 2004
  • 동영상에서 움직임 정보는 동$.$영상의 내용을 표현하는데 중요한 역할을 한다. 따라서 움직임 정보론 이용하여 동영상의 내용을 분석하고 검색하는 방법들이 다양하게 제안되고 있다. 지금까지의 움직임 정보에 관한 연구는 움직이는 동작의 분석보다는 단순한 움직임의 방향이나 궤적의 분석에 치중되고 있다. 본 논문에서는 객체의 동작을 분석하기 위한 방법으로 움직임에 의한 모양 변화를 표현하는 모양 변화 기술자(descriptor)를 소개하고, 모양 변화 축적도(shape variation map)를 이용한 모양 변화 표현방법을 제안한다. 실험을 통하여 제안된 방법이 기존의 방법에 비하여 검색 효율측면에서 11%의 성능향상을 보였으며, 제안된 방법이 객체의 움직임에 의한 모양 변화를 효과적으로 표현하며, 인지적 관점의 움직임 검색에 이용 가능함을 보였다.

Genetic Differentiation in the Mitochondrial Cytochrome b Gene of Korean Brown Frog, Rana dybowskii (Amphibia: Ranidae)

  • Kim, Yu-Ri;Yang, Dong-Eun;Lee, Hyuk;Lee, Jung-Eun;Lee, Hyun-Ick;Yang, Suh-Yung;Lee, Hei-Yung
    • Animal cells and systems
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    • 제3권2호
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    • pp.199-205
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    • 1999
  • The nucleotide sequences of a 504 bp segment of the mitochondrial cytochrome b gene were analyzed to survey the intraspecific variation of the brown frog, Rana dybowskii, collected from nine populations in South Korea. Comparisons of sequence divergence of the cytochrome b gene suggest that the populations examined are clearly classified into two types (type 1 and type 2), diverged from each other by a high value of 14.3-15.9% sequence divergence. The two types are distributed allopatrically in most populations, but only one population occurs sympatrically. In the Tonghae population, their spawning grounds differ in that type 1 spawns in the puddle and type 2 spawns in the mountain creek. Based on the genetic divergences of the cytochrome b gene sequences, the phylogenetic status of Korean R. dybowskii is elucidated by comparing it with related brown frogs distributed in an area adjacent to the Korean Peninsula. Interspecific sequence divergences among type 1, type 2 and other related brown frog species (Russian R. dybowskii, R. pirica, R. ornativentris, R. chensinensis: 2n=24 chromosomes) used in this study ranged from 11.7 to 16.3%. R. dybowskii in Tsushima is very similar to our type 1 (sequence divergence=0-1.6%) and R. chensinensis in western China is closest to our type 2 (sequence divergence=6.8-7.5%).

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마늘유래 Cytochrome P450 유전자의 변이 분석 (Genetic Variation of Cytochrome P450 Genes in Garlic Cultivars)

  • 권순태
    • 한국자원식물학회지
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    • 제24권5호
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    • pp.584-590
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    • 2011
  • 의성종 마늘의 유묘로부터 상처(wound)에 특이적으로 발현되는 cytochrome P450 유전자군의 하나인 P450-Esg cDNA를 탐색하였다. P450-Esg는 1,419 bp의 open reading frame(ORF)을 가지고 473개의 아미노산을 가진 polypeptide를 코딩하는 것으로 나타났다. 국내와 몽골로부터 수집한 12개의 재배종으로 부터 P450-Esg 유사 유전자의 염기서열을 비교한 결과 시작코돈(ATG)에서 472~510 bp 및 1,210~1,240 bp 부위의 염기에서 재배종간에 차이를 보이는 염기서열을 다수 확인하였다. cDNA 1,210~1,240 bp의 부위는 P450 유전자에서 공통적으로 알려진 heme binding domain으로, 각 지역에서 수집된 재배종은 염기서열뿐만 아니라 아미노산 서열에 있어서도 특이적인 변이를 보였다. cDNA 472~510 bp 부위에서 코딩하는 13개 아미노산의 서열은 12개 재배종에서 모두 동일하였으나, 13개 아미노산 중 7개에서 재배종 마다 각각 다른 DNA 염기로 코딩하는 단일 염기다형성(single nucleotide polymorphism)을 보이는 서열을 확인하였다. 이 결과는 다양하게 존재하는 국내외 마늘 재배종을 구분하는 marker로 사용될 것이며, 외국산 마늘에 대한 유전적 우선권을 확보하는 수단으로 사용될 것이다.

The EST Analysis and Transgene Expression System in Rice

  • Kim, Jukon;Nahm, Baek-Hie
    • Journal of Plant Biotechnology
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    • 제1권1호
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    • pp.46-55
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    • 1999
  • The expressed sequence tags(ESTs) from immature seed of rice, Oryza sativa cv Milyang 23, were partially sequenced and analyzed by homology. As of 1998, the partial sequences of about 6,600 cDNA clones were analyzed from normal and normalized immature seed cDNA libraries. About 2,200 ESTs were putatively identified by BLASTX deduced amino acid sequence homology analysis. About 20% of them were putatively identified as storage proteins. Also the clones were highly homologous to genes involved particularly in starch biosynthesis, glycolysis, signal transduction and defenses. Compared to 35% of redundancy in the ESTs of normal cDNA library, that from the substracted library was 15%. The Korea Rice Genome Network is maintained to provide the updated information of sequences, their homologies and sequence alignments of ESTs. For the stable expression of transgene in rice, diverse vectors were developed for overexpression, targeting and gene dosage effect with transit peptides (Tp) and matrix attachment region (MAR) sequence from chicken lysozyme locus. The rice calli were transformed via Agrobacterium tumefaciens LBA4404(pSB1) with the triparental mating technique and selected by herbicide resistance. The green fluorescent protein(GFP) gene in expression vector under the control of rbcS promoter-Tp was overexpressed upto 10 % of the total soluble protein. In addition, the Tp-sGFP fusion protein was properly processed during translocation into chloroplast. The expression of sGFP in the presence of MAR sequences was analyzed with Northern and immunoblot analysis. All the lines in which sGFP transgene with MAR sequence, showed position independent and copy number-dependent expression, while the lines without MAR showed the varied level of expression with the integration site. Thus the MAR sequence significantly reduced the variation in transgene expression between independent transformants.

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Mitochondrial DNA Sequence Variations and Genetic Relationships among Korean Thais Species (Muricidae: Gastropoda)

  • Lee, Sang-Hwa;Kim, Tae-Ho;Lee, Jun-Hee;Lee, Jong-Rak;Park, Joong-Ki
    • Animal Systematics, Evolution and Diversity
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    • 제27권1호
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    • pp.1-17
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    • 2011
  • Thais Roding, 1798, commonly known as rock-shell, is among the most frequently found gastropod genera worldwide on intertidal rocky shores including those of Japan, China, Taiwan and Korea. This group contains important species in many marine environmental studies but species-level taxonomy of the group is quite complicated due to the morphological variations in shell characters. This study examined the genetic variations and relationships among three Korean Thais species based on the partial nucleotide sequences of mitochondrial cox1 gene fragments. Phylogenetic trees from different analytic methods (maximum parsimony, neighbor-joining, and maximum likelihood) showed that T. bronni and T. luteostoma are closely related, indicating the most recent common ancestry. The low sequence divergence found between T. luteostoma and T. bronni, ranging from 1.53% to 3.19%, also corroborates this idea. Further molecular survey using different molecular marker is required to fully understand a detailed picture of the origin for their low level of interspecific sequence divergence. Sequence comparisons among conspecific individuals revealed extensive sequence variations within the three species with maximum values of 2.43% in T. clavigera and 1.37% in both T. bronni and T. luteostoma. In addition, there is an unexpectedly high level of mitochondrial genotypic diversity within each of the three Korean Thais species. The high genetic diversity revealed in Korean Thais species is likely to reflect genetic diversity introduced from potential source populations with diverse geographic origins, such as Taiwan, Hong Kong, and a variety of different coastal regions in South China and Japan. Additional sequence analysis with comprehensive taxon sampling from unstudied potential source populations will be also needed to address the origin and key factors for the high level of genetic diversity discovered within the three Korean Thais species studied.

한우 Mitochondrial DNA D-loop 영역의 염기서열 및 유전변이 (Sequence and Genetic Variation of Mitochondrial DNA D-loop Region in Korean Cattle)

  • 정의룡;김우태;김연수;이정구;한상기
    • Journal of Animal Science and Technology
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    • 제44권2호
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    • pp.181-190
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    • 2002
  • 본 연구는 한우 mt DNA 염기서열 가운데 $tRNA^{Pro}$$tRNA^{Pre}$ 유전자 사이에 위치하고 있는 D-loop 영역의 염기서열을 결정하고 한우의 염기변이 다형성을 분석하기 위하여 mt DNA의 D-loop 영역내 404번부터 15061까지 1142bp 크기의 염기서열 부위를 특이적인 primer를 이용하여 PCR로 증폭하였다. 한우의 mt DNA내 D-loop 영역에서 단일염기의 치환 및 삽입에 의해 총 24개의 polymorphic site가 확인되었다. 한우 mt DNA D-loop 영역 가운데 16042~16122번째에 위치하고 있는 영역의 염기치환율이 다른 염기서열 영역에 비하여 약 50%를 점유하고 있었으며 이들 polymorphic site에서 16055, 16230 및 16260 번의 염기치환은 한우에서만 검출된 새로운 염기변이로 확인되었다. 따라서, 한우 D-loop 영역내 특이적인 염기변이는 모계 및 세포질 DNA marker로서 한우품종을 특정하는데 활용할 수 있는 가능성을 시사하였다. Polymorphic site의 출현빈도는 169번째 염기가 81.3%로 가장 출현율이 높았고 다음으로 16302번과 16093번째는 56.3% 그리고 16042번와 16119번째 염기가 각각 50.0%와 43.8%의 치환율을 보였으며 나머지 14개 염기는 6.3%에서 25.0% 수준의 출현율을 나타냈다. 한우와 타 품종간의 유전적 근연관계를 추정한 결과 Bos taurus 계통의 유럽종과 유전적 유사도가 높은 것으로 추정되었고, Africa와 India의 Bos indicus 계통의 품종과는 상대적으로 근연관계가 먼 것으로 나타났다. 본 연구에서 검출한 mt DNA내 D-loop 영역의 염기서열 다형성은 한우집단의 유전적 변이성 추정과 모계유전 분석 및 나아가 경제적으로 중요한 형질들과의 연관성 분석에 유용하게 활용할 수 있을 것으로 기대된다.

미토콘드리아 Cytochrome b 유전자의 염기서열 분석을 이용한 한국산 총알고둥(복족강, 총앙고둥과)의 지리적 변이 및 오염.비오염지역간의 유전적 다양성 (Geographic Variation and Genetic Diversity between Polluted and Unpolluted Sites of Korean Littorina brevicula(Gastropoda, Littorinidae) Based on the Mitochondrial Cytochrome b Gene Sequence)

  • Suh, Jae-Hwa;Kim, Sook-Jung;Song, Jun-Im
    • Animal Systematics, Evolution and Diversity
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    • 제18권1호
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    • pp.75-84
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    • 2002
  • 한국산 총알고둥(Littorina brevicula)의 지리적 변이를 조사하기 위하여 동해안, 남해안, 서해안에서 총 11개 집단 106개체를 대상으로 미토콘드리아 DNA cytochrome b 유전자의 염기서열을 분석하였으며, 분석 결과 총 500 bp의 염기서열을 검출하였다 검출된 염기서열을 대상으로 염기치환 유무 및 치환 장소를 비교한 결과 13종류의 haplotype으로 구분되었으며, 그 중 LbA가 주 haplotype으로 나타났다. LbA의 평균 출현빈도는 0.877이었으며, 동해안은 0.82, 남해안 0.70, 서해안 1.00으로 각각 나타나 동해안 집단이 타 집단에 비해 haplotype의 다양성이 더 높았다. 특히 오염지역과 비오염지 역간의 비교에서는 8종류의 haplotype이 구분되었으며, 역시 LbA가 주 haplotype으로 나타났다.