• 제목/요약/키워드: S haplotype

검색결과 143건 처리시간 0.038초

도입된 상업용 거저리(Zophobas atratus)의 분류 및 형태유사종 갈색거저리 (Tenebrio molitor)와 대왕거저리(Promethis valgipes)와의 DNA 바코드 특성 분석 (Taxonomy of introduced commercial insect, Zophobas atratus (Coleoptera: Tenebrionidae) and a comparison of DNA barcoding with similar tenebrionids, Promethis valgipes and Tenebrio molitor in Korea)

  • 박해철;정부희;한태만;이영보;김성현;김남정
    • 한국잠사곤충학회지
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    • 제51권2호
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    • pp.185-190
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    • 2013
  • 2011년부터 수입되어 사육 유통되는 슈퍼밀웜의 국내 샘플들은 형태 분류학적 검토를 통하여 Zophobas atratus란 종으로 밝혀졌고, Z. morio란 학명은 이 종의 동물이 명임이 확인되었다. 이 외래종은 자원 관리측면에서 국명을 '아메리카왕거저리'로 신칭하였다. 이 종과 형태적으로 유사한 자생종 P. valgipes 및 사육종 T. molitor와 DNA 바코드 분석 결과, Zophobas atratus와 P. valgipes는 평균 21.4%, Zophobas atratus와 Z. morio는 20.9%의 염기분화율을 보여 DNA 바코드로 쉽게 종 동정할 수 있음을 확인하였다. Z. atratus의 국내집단은 모두 동일 일배체형을 갖고 있어 국외의 동일 지역 개체군이 국내로 유입된 것으로 추정된 반면에 Z. molitor는 동일 사육집단 내에서도 두 개의 종내 집단이 뚜렷이 구분되고 서로의 염기 분화율이 1.17 ~ 2.19%로 갭을 형성한 것으로 보아 국내 Z. molitor 사육개체들은 서로 다른 지역 집단이 혼입되어 대량 사육에 이용되어진 것으로 추정된다. 이번 연구를 통하여 분석된 상업적으로 도입, 이용되는 2종의 거저리류의 분류학적 기초 정보가 국내 곤충자원 관리를 위하여 유용하게 이용될 것으로 판단된다.

Mitochondrial Cytochrome b Sequence Variations and Population Structure of Siberian Chipmunk (Tamias sibiricus) in Northeastern Asia and Population Substructure in South Korea

  • Lee, Mu-Yeong;Lissovsky, Andrey A.;Park, Sun-Kyung;Obolenskaya, Ekaterina V.;Dokuchaev, Nikolay E.;Zhang, Ya-Ping;Yu, Li;Kim, Young-Jun;Voloshina, Inna;Myslenkov, Alexander;Choi, Tae-Young;Min, Mi-Sook;Lee, Hang
    • Molecules and Cells
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    • 제26권6호
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    • pp.566-575
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    • 2008
  • Twenty-five chipmunk species occur in the world, of which only the Siberian chipmunk, Tamias sibiricus, inhabits Asia. To investigate mitochondrial cytochrome b sequence variations and population structure of the Siberian chipmunk in northeastern Asia, we examined mitochondrial cytochrome b sequences (1140 bp) from 3 countries. Analyses of 41 individuals from South Korea and 33 individuals from Russia and northeast China resulted in 37 haplotypes and 27 haplotypes, respectively. There were no shared haplotypes between South Korea and Russia - northeast China. Phylogenetic trees and network analysis showed 2 major maternal lineages for haplotypes, referred to as the S and R lineages. Haplotype grouping in each cluster was nearly coincident with its geographic affinity. In particular, 3 distinct groups were found that mostly clustered in the northern, central and southern parts of South Korea. Nucleotide diversity of the S lineage was twice that of lineage R. The divergence between S and R lineages was estimated to be 2.98-0.98 Myr. During the ice age, there may have been at least 2 refuges in South Korea and Russia - northeast China. The sequence variation between the S and R lineages was 11.3% (K2P), which is indicative of specific recognition in rodents. These results suggest that T. sibiricus from South Korea could be considered a separate species. However, additional information, such as details of distribution, nuclear genes data or morphology, is required to strengthen this hypothesis.

IFITM2 및 IFITM5 유전자다형성의 발굴과 궤양성대장염의 감수성과의 연관성 (Identification of the Polymorphisms in IFITM2 and IFITM5 Genes and their Association with Ulcerative Colitis)

  • 김헌수;모지수;알롬 콘도칼자항길;박원철;김권영;채수천
    • 생명과학회지
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    • 제25권1호
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    • pp.84-92
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    • 2015
  • Interferon inducible transmembrane protein (IFITM) family 유전자는 인터페론(IFNs)의 동형 세포부착 기능 및 세포의 항-증식 활성과 같은 몇 가지 세포증식 과정에 연관되어 있다. 본 연구에서는 IFITM2 및 IFITM5 SNPs이 궤양성대장염의 감수성과 연관되어 있는지 알아 보고자 했다. 본 연구에서 직접 염기서열 분석법을 사용하여 IFITM2 유전자에서 총 13개, IFITM5 유전자에서는 12개의 유전적 변이를 발굴하였다. 이들의 SNPs의 유전자형 분석은 PCR-RFLP 법과 Taq-Man probe 분석법을 사용하였고, 일배체형 빈도 분석은 EM algorithm을 사용하여 분석하였다. 궤양성대장염 환자에서 IFITM2 및 IFITM5 SNPs의 유전자형과 대립유전자 빈도는 건강인 대조군과 비교했을 때 유의성이 없었다. 궤양성대장염 환자와 정상인 대조군에서 IFITM1의 rs77537847, IFITM2의 rs909097, IFITM5의 rs56069858을 지표로 하는 유전자형 조합 빈도를 분석한 결과 주된 유전자형 조합빈도에서는 유의성이 없는 것으로 나타났으나, 궤양성대장염 환자와 건강인 대조군의 GGT 유전자형조합 빈도 분석에서는 유의하게 다른 차이를 보였다(p=0.002). 이러한 결과에 의거하여 IFITMs의 SNPs 유전자형 조합이 궤양성대장염의 감수성과 연관성이 있고, 궤양성대장염의 유용한 유전자 마커로 사용 할 수 있다고 생각된다.

Genetic Polymorphisms of UGT1A and their Association with Clinical Factors in Healthy Koreans

  • Kim, Jeong-Oh;Shin, Jeong-Young;Lee, Myung-Ah;Chae, Hyun-Suk;Lee, Chul-Ho;Roh, Jae-Sook;Jin, Sun-Kyung;Kang, Tae-Sun;Choi, Jung-Ran;Kang, Jin-Hyoung
    • Genomics & Informatics
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    • 제5권4호
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    • pp.161-167
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    • 2007
  • Glucuronidation by the uridine diphosphateglucuronosy-ltransferase 1A enzymes (UGT1As) is a major pathway for elimination of particular drugs and endogenous substances, such as bilirubin. We examined the relation of eight single nucleotide polymorphisms (SNPs) and haplotypes of the UGT1A gene with their clinical factors. For association analysis, we genotyped the variants by direct sequencing analysis and polymerase chain reaction (PCR) in 218 healthy Koreans. The frequency of UGT1A1 polymorphisms, -3279T>G, -3156G>A, -53 $(TA)_{6>7}$, 211G>A, and 686C>A, was 0.26, 0.12, 0.08, 0.15, and 0.01, respectively. The frequency of -118 $(T)_{9>10}$ of UGT1A9 was 0.62, which was significantly higher than that in Caucasians (0.39). Neither the -2152C>T nor the -275T>A polymorphism was observed in Koreans or other Asians in comparison with Caucasians. The -3156G>A and -53 $(TA)_{6>7}$ polymorphisms of UGT1A were significantly associated with platelet count and total bilirubin level (p=0.01, p=0.01, respectively). Additionally, total bilirubin level was positively correlated with occurrence of the UGT1A9-118 $(T)_{9>10}$ rare variant. Common haplotypes encompassing six UGT1A polymorphisms were significantly associated with total bilirubin level (p=0.01). Taken together, we suggest that determination of the UGT1A1 and UGT1A9 genotypes is clinically useful for predicting the efficacy and serious toxicities of particular drugs requiring glucuronidation.

Association Analysis of Monocyte Chemotactic Protein-3 (MCP3) Polymorphisms with Asthmatic Phenotypes

  • Park, Byung-Lae;Kim, Lyoung-Hyo;Choi, Yoo-Hyun;Cheong, Hyun-Sub;Park, Hae-Sim;Hong, Soo-Jong;Choi, Byoung-Whui;Lee, June-Hyuk;Uh, Soo-Taek;Park, Choon-Sik;Shin, Hyoung-Doo
    • BMB Reports
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    • 제38권1호
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    • pp.77-81
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    • 2005
  • The monocyte chemotactic protein-3 (MCP3), on chromosome 17q11.2-q12, is a secreted chemokine, which attracts macrophages during inflammation and metastasis. In an effort to discover additional polymorphism(s) in genes whose variant(s) have been implicated in asthma, we scrutinized the genetic polymorphisms in MCP3 to evaluate it as a potential candidate gene for asthma host genetic study. By direct DNA sequencing in twenty-four individuals, we identified four sequence variants within the 3 kb full genome including 1,000bp promoter region of MCP3; one in promoter region (-420T>C), three in intron (+136C>G, +563C>T, +984G>A) respectively. The frequencies of those four SNPs were 0.020 (-420T>C), 0.038 (+136C>G), 0.080 (+563C>T), 0.035 (+984G>A), respectively, in Korean population (n = 598). Haplotypes, their frequencies and linkage disequilibrium coefficients (|D'|) between SNP pairs were estimated. The associations with the risk of asthma, skin-test reactivity and total serum IgE levels were analyzed. Using statistical analyses for association of MCP3 polymorphisms with asthma development and asthma-related phenotypes, no significant signals were detected. In conclusion, we identified four genetic polymorphisms in the important MCP3 gene, but no significant associations of MCP3 variants with asthma phenotypes were detected. MCP3 variation/haplotype information identified in this study will provide valuable information for future association studies of other allergic diseases.

Association of PTGER gene family polymorphisms with aspirin intolerant asthma in Korean asthmatics

  • Park, Byung-Lae;Park, Se-Min;Park, Jong-Sook;Uh, Soo-Taek;Choi, Jae-Sung;Kim, Yong-Hoon;Kim, Mi-Kyeong;Choi, In-Seon S.;Choi, Byoung-Whui;Cho, Sang-Heon;Hong, Chein-Soo;Lee, Yong-Won;Lee, Jae-Young;Park, Choon-Sik;Shin, Hyoung-Doo
    • BMB Reports
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    • 제43권6호
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    • pp.445-449
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    • 2010
  • Aspirin-intolerant asthma (AIA) is characterized by severe asthmatic attack after ingestion of aspirin and/or non-steroidal anti-inflammatory drugs. In this study, we investigated the relationship between Prostaglandin E2 receptor (PTGER) gene family polymorphisms and AIA in 243 AIA patients and 919 aspirin-tolerant asthma (ATA) controls of Korean ethnicity in two separate study cohorts. After genotyping 120 SNPs of the PTGER gene family for the $1^{st}$ cohort study, four SNPs in PTGER1, ten in PTGER3, six in PTGER3, and a haplotype of PTGER2 showed association signals with decreased or increased risk of AIA. Among the positively associated SNPs, one in PTGER1 and four in PTGER3 were analyzed in the $2^{nd}$ cohort study. The results show that rs7543182 and rs959 in PTGER3 retained their effect, although no statistical significance was retained in the $2^{nd}$ cohort study. Our findings provide further evidence that polymorphisms in PTGER3 might play a significant role in aspirin hypersensitivity among Korean asthmatics.

엽록체 DNA를 이용한 섬괴불나무(Lonicera insularis Nakai)의 종내변이 및 지리학적 연구 (Intraspecific variation and geographic study of Lonicera insularis (Caprifoliaceae) based on chloroplast DNA sequences)

  • 정금선;김미선;이웅;박재홍
    • 식물분류학회지
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    • 제44권3호
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    • pp.202-207
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    • 2014
  • 섬괴불나무(Lonicera insularis Nakai)는 인동과(Caprifoliaceae) 인동속(Lonicera L.) 에 속하는 관목으로 울릉도와 독도의 해안가 지역에 분포하는 한국특산식물이다. 섬괴불나무와 인동속의 근연종인 괴불나무, 청괴불나무, 각시괴불나무, 길마가지나무, L. morrowii, 병꽃나무 7분류군과의 유연관계를 밝히고, 섬괴불나무의 종내 변이를 확인하기 위해 엽록체 DNA 5개 영역의 염기서열을 분석하였다. 분석결과 전체 3.2kb의 염기서열이 결정되었고, 섬괴불나무와 L. morrowii 에서 2개의 엽록체 DNA haplotype(CP01-02)이 결정되었다. 섬괴불나무는 한 개의 염기치환으로 CP01 type과 CP02 type으로 구별되었으며, 일본의 L. morrowii와는 CP02 type을 공유하였다. 섬괴불나무에서 확인 된 두 개의 CP type은 1) 진화적으로 뚜렷한 두 개 이상의 계통을 가지며, 이는 하나 이상의 유입경로를 통해 울릉도로 유입되었을 가능성을 높게 지지한다. 그리고, 2) 형태학적으로 구별되는 섬괴불나무와 L. morrowii의 CP type의 공유는 두 종의 지리적인 장벽에 의한 이소적종분화의 결과로 추론할 수 있다. 본 연구에서 확인된 울릉도와 독도의 섬괴불나무의 종내 변이 및 다양성에 관한 결과는 울릉도 및 독도 식물의 분자생물지리학적 연구로 대양섬의 생물학적 진화양상과 종 분화 과정에 중요한 기초 자료로 활용될 것이다.

가는돌고기(Pseudopuntungia tenuicorpa) 보전을 위한 유전적 다양성 연구 (Genetic Diversity of the Slender Shinner(Pseudopuntungia tenuicorpa) and Its Conservational Implications)

  • 김동영;석호영
    • 한국어류학회지
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    • 제32권2호
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    • pp.39-48
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    • 2020
  • 가는돌고기(Pseudopungtungia tenuicorpa)는 8~10 cm 크기의 소형 잉어과 어류로 전 세계에서 한국의 한강 그리고 임진강에만 서식하는 멸종위기종이다. 가는돌고기는 국내 담수의 상위 포식자 중 하나인 꺽지 수컷이 돌보는 수정된 알이 있는 둥지에 탁란(brood parasitism)을 하거나 작은 바위에 생긴 틈에 산란을 하는 생식 행동을 보인다. 이 종의 특이한 생식 생태는 환경 파괴가 극심한 현대 사회에서 산란 장소를 더욱 제한할 가능성이 높아 특별한 관리와 보전 전략이 필요하다. 본 연구에서는 microsatellites와 mtDNA control region 유전자를 이용하여 가는돌고기의 종 보전 관리 전략에 필요한 개체군 수준의 유전적 다양성 등 기초자료를 확보하고자 하였다. 유전체 분석에서 얻어진 28개의 microsatellite 유전자들을 이용하여 한강의 3지역에서 채집된 67개체들의 유전자형을 밝혔다. 본 microsatellite 유전자 분석 결과, 가는돌고기는 일반적으로 알려진 담수어류의 microsatellite 다양성 정도를 훨씬 뛰어 넘는 높은 유전적 다양성을 보여주었고(평균 이형접합자 빈도 예측치=0.914; 유전자 당 평균 대립 인자 빈도=27.9), 개체군 감소나 inbreeding의 흔적은 나타나지 않았다. 그러나 북한강과 남한강 사이의 유전적 분화가 두드러졌다. 이런 유전적 구조는 14개 haplotype이 발견된 mtDNA 분석 결과에서도 유사하게 나타났다. 매우 좁은 지역에 서식하는 고유 멸종위기종에서 유전자 흐름의 제한 가능성이 나타났기 때문에, 장기적 측면에서 개체군들의 크기에 대한 고민이 필요하다. 추후 적응 유전적 분석 결과에서도 유사한 결과가 나타난다면, 북한강과 남한강 개체군들은 별도 관리가 이루어져야 하며, 복원 계획에도 이러한 유전적 구조에 대한 검토가 수반되어야 할 것이다.

Melanocyte-stimulating Hormone Receptor (MC1R) Genotype and Its Effects on Coat Color in Korean Jindo Dogs

  • Hong, Kyung-Won;Kim, Sang-Wook;Jang, Hong-Chul;Yang, Seung-Min;Shin, Young-Bin;Hong, Yoon-Hye;Kim, Jong-Seok;Oh, Seok-Il;Choi, Yoon-Ju;Chung, Dong-Hee;Yang, Boh-Suk;Lee, Ji-Woong;Choi, Bong-Hwan
    • Asian-Australasian Journal of Animal Sciences
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    • 제22권8호
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    • pp.1078-1084
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    • 2009
  • The Jindo dog is a Korean natural monument and is recognized by the Fédération Cynologique Internationale. A prominent feature is the diverse coat color within the breed. To analyze the genetic basis of variation in the Jindo coat color, we sequenced the protein-coding regions of the melanocortin 1 receptor gene (MC1R). The MC1R coding sequence was determined from 154 dogs in five breeds (Jindo, Labrador Retriever, English Springer Spaniel, Belgian Malinois, and German Shepherd). To confirm the genetic structure of sampled populations, we tested for Hardy-Weinberg equilibrium (HWE) and computed $F_{st}$ The sample populations did not significantly deviate from HWE. $F_{st}$ was 0.02 between white and fawn Jindo dogs; this was lower than $F_{st}$ between breeds. Six single nucleotide polymorphisms (SNPs) were detected in the MC1R coding region. Among the six SNPs, five were non-synonymous (S90G, T105A, Q159P, M264V, and R306ter) and one was synonymous SNP (Y298Y). From the SNPs, we predicted four haplotypes (H1, H2, H3, and H4) for Jindo MC1R. Jindo dogs had different haplotypes corresponding to different coat colors. H1 was frequently observed in white Jindo dogs with an odds ratio of 5.03 (95% CI: 2.27-11.18, p<0.0001), whereas H2 and H4 were observed only in fawn Jindo dogs. Our findings indicate that SNP haplotype can influence coat color. Knowledge of MC1R haplotypes can help discriminate white and fawn coats in Jindo dogs. We hope this report will trigger more research into the genetics of this traditional Korean dog and will be a reference for dogs of Asian origin. Also, our results will provide a useful genetic marker for Jindo dog breeders who have selected for specific colors.

Novel Polymorphisms of Adrenergic, Alpha-1B-, Receptor and Peroxisome Proliferator-activated Receptor Gamma, Coactivator 1 Beta Genes and Their Association with Egg Production Traits in Local Chinese Dagu Hens

  • Mu, F.;Jing, Y.;Qin, N.;Zhu, H.Y.;Liu, D.H.;Yuan, S.G.;Xu, R.F.
    • Asian-Australasian Journal of Animal Sciences
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    • 제29권9호
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    • pp.1256-1264
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    • 2016
  • Adrenergic, alpha-1B-, receptor (ADRA1B) and peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B) genes are involved in regulation of hen ovarian development. In this study, these two genes were investigated as possible molecular markers associated with hen-housed egg production, egg weight (EW) and body weight in Chinese Dagu hens. Samples were analyzed using the polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) technique, followed by sequencing analysis. Two novel single nucleotide polymorphisms (SNPs) were identified within the candidate genes. Among them, an A/G transition at base position 1915 in exon 2 of ADRA1B gene and a T/C mutation at base position 6146 in the 3'- untranslated region (UTR) of PPARGC1B gene were found to be polymorphic and named SNP A1915G and T6146C, respectively. The SNP A1915G (ADRA1B) leads to a non-synonymous substitution (aspartic acid 489-to-glycine). The 360 birds from the Dagu population were divided into genotypes AA and AG, allele A was found to be present at a higher frequency. Furthermore, the AG genotype correlated with significantly higher hen-housed egg production (HHEP) at 30, 43, 57, and 66 wks of age and with a higher EW at 30 and 43 wks (p<0.05). For the SNP T6146C (PPARGC1B), the hens were typed into TT and TC genotypes, with the T allele shown to be dominant. The TC genotype was also markedly correlated with higher HHEP at 57 and 66 wks of age and EW at 30 and 43 wks (p<0.05). Moreover, four haplotypes were reconstructed based on these two SNPs, with the AGTC haplotype found to be associated with the highest HHEP at 30 to 66 wks of age and with higher EW at 30 and 43 wks (p<0.05). Collectively, the two SNPs identified in this study might be used as potential genetic molecular markers favorable in the improvement of egg productivity in chicken breeding.