• 제목/요약/키워드: Sequence polymorphisms

검색결과 213건 처리시간 0.025초

Characterization of porcine cytokine inducible SH2-containing protein gene and its association with piglet diarrhea traits

  • Niu, Buyue;Guo, Dongchun;Liu, Zhiran;Han, Xiaofei;Wang, Xibiao
    • Asian-Australasian Journal of Animal Sciences
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    • 제30권12호
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    • pp.1689-1695
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    • 2017
  • Objective: The cytokine inducible SH2-containing protein (CISH), which might play a role in porcine intestine immune responses, was one of the promising candidate genes for piglet anti-disease traits. An experiment was conducted to characterize the porcine CISH (pCISH) gene and to evaluate its genetic effects on pig anti-disease breeding. Methods: Both reverse transcription polymerase chain reaction (RT-PCR) and PCR were performed to obtain the sequence of pCISH gene. A pEGFP-C1-CISH vector was constructed and transfected into PK-15 cells to analysis the distribution of pCISH. The sequences of individuals were compared with each other to find the polymorphisms in pCISH gene. The association analysis was performed in Min pigs and Landrace pigs to evaluate the genetic effects on piglet diarrhea traits. Results: In the present research, the coding sequence and genomic sequence of pCISH gene was obtained. Porcine CISH was mainly localized in cytoplasm. TaqI and HaeIII PCR restriction fragment length polymorphism (RFLP) assays were established to detect single nucleotide polymorphisms (SNPs); A-1575G in promoter region and A2497C in Intron1, respectively. Association studies indicated that SNP A-1575G was significantly associated with diarrhea index of Min piglets (p<0.05) and SNP A2497C was significantly associated with the diarrhea trait of both Min pig and Landrace piglets (p<0.05). Conclusion: This study suggested that the pCISH gene might be a novel candidate gene for pig anti-disease traits, and further studies are needed to confirm the results of this preliminary research.

DNA Repair Gene ERCC1 and XPD Polymorphisms Predict Glioma Susceptibility and Prognosis

  • Chen, Da-Qing;Yao, Dong-Xiao;Zhao, Hong-Yang;Yang, Shu-Juan
    • Asian Pacific Journal of Cancer Prevention
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    • 제13권6호
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    • pp.2791-2794
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    • 2012
  • Aims: We conducted a case-control study in a Chinese population to clarify the association between polymorphisms in ERCC1 and XPD and susceptibility and survival of glioma. Methods: A total of 393 cases and 410 controls were selected from March 2007 to December 2011. Genotyping of ERCC1 and XPD was conducted by TaqMan assays using the ABI Prism 7911HT Sequence Detection System. All analyses were performed using the STATA statistical package. Results: Polymorphisms in ERCC1 118C/T, ERCC1 8092C/A and XPD Asp312Asn showed no statistically significant difference between glioma cases and controls. However, individuals with the XPD 751Gln/Gln genotype had an increased risk of developing glioma compared with those with the Lys/Lys genotype (adjusted OR=1.64, 95% CI: 1.06-2.89). The ERCC1 118T/T genotype was associated with significantly higher median survival than the ERCC1 C/C genotype (HR=0.67, 95%CI=0.35-0.96). In addition, individuals with XPD 751Gln/Gln had a lower median survival time than XPD Lys/Lys carriers (HR=0.54, 95%CI=0.37-0.93). Conclusion: In conclusion, we observed that the XPD 751Gln/Gln genotype is associated with glioma susceptibility, and ERCC1 118 T/T and XPD 751Gln/Gln genotypes confer a significantly better prognosis.

Identification of Human LRG1 Polymorphisms and Their Genetic Association with Rheumatoid Arthritis

  • Jin, Eun-Heui;Chae, Soo-Cheon;Shim, Seung-Cheol;Kim, Hwan-Gyu;Chung, Hun-Taeg
    • Genomics & Informatics
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    • 제6권2호
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    • pp.77-83
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    • 2008
  • Human leucine-rich alpha-2-glycoprotein 1 (LRG1) was first identified as a trace protein in human serum. The primary sequence of LRG1 includes repeated leucine residues and putative membrane-binding domains. But, there is no published information on the genetic variation of this gene. In this study, LRG1 was identified as one of several upregulated genes in RA patients. We examined the expression levels of LRG1 between an RA patient and a healthy control by RT-PCR and validated that LRG1 was highly expressed in RA patients compared with controls. We identified the possible variation sites and single nucleotide polymorphisms (SNPs) in the human LRG1 gene by direct sequencing and analyzed the association of genotype and allele frequencies between RA patients and a control group without RA. We further investigated the relationship between these polymorphisms and the level of RF or anti-CCP in RA patients. We identified a total of three SNPs(g.-678A>G, g.-404C>T and g.1427T>C) and two variation sites (g.-1198delA and g.-893delA) in the LRG1 gene. Our results suggest that polymorphisms of the LRG1 gene are not associated with the susceptibility of RA in the Korean population.

Identification of polymorphic loci in the deiodinase 2 gene and their associations with head dimensions in geese

  • Deng, Yan;Hu, Qian;Tang, Bincheng;Ouyang, Qingyuan;Hu, Shenqiang;Hu, Bo;Hu, Jiwei;He, Hua;Chen, Guohong;Wang, Jiwen
    • Animal Bioscience
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    • 제35권5호
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    • pp.639-647
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    • 2022
  • Objective: This study was conducted to clone and compare the molecular characteristics of the deiodinase 2 (DIO2) gene between Sichuan White geese and Landes geese, and to analyze the association between polymorphisms of the DIO2 gene and head dimensions in Tianfu meat geese. Methods: The coding sequence of the DIO2 gene was cloned by polymerase chain reaction and vector ligation and aligned by DNAMAN software. A total of 350 Tianfu meat geese were used to genotype the polymorphisms of the DIO2 gene and measure the head dimensions. Association analysis between the polymorphisms of the DIO2 gene and head dimensions was carried out. Results: An 840-bp coding sequence of the DIO2 gene was obtained and comparison analysis identified four polymorphic loci between Sichuan White geese and Landes geese. Further analysis showed that the dominant alleles for the four polymorphic loci were G, G, A, and T and the frequency of the heterozygous genotype was higher than that of the homozygous genotype in Tianfu meat geese. Compared to that in the population of non-knob geese of Tianfu meat geese, the head dimensions in the population of knob geese were significantly higher except for nostril height. However, in the non-knob geese, beak width 1, beak width 2, nostril length, cranial width 1, and maxillary length had significant differences among different genotypes or haplotypes/diplotypes. Conclusion: These results suggested that polymorphisms of the DIO2 gene could be considered molecular markers to select larger heads of geese in the population of non-knob geese.

미토콘드리아 COI 유전자 서열의 다형성과 반수체형에 근거한 한국산 붉바리(Epinephelus akaara)의 유전적 구조와 계통 유연관계 (Genetic Structure and Phylogenetic Relationship of Red Spotted Grouper (Epinephelus akaara) Based on the Haplotypes and Polymorphisms of Mitochondrial COI Gene Sequences)

  • 한상현;이영돈;백혜자;오홍식;노충환
    • 생명과학회지
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    • 제24권6호
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    • pp.626-632
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    • 2014
  • 한국산 붉바리 집단에서 유전적 구조와 계통 유연관계를 mtDNA COI 유전자 서열의 다형성을 이용하여 조사하였다. COI 유전자 서열을 결정하였고 기존에 보고된 서열들과 비교하였다. 본 연구를 통해 결정된 COI 서열들은 기존에 보고된 EF607565에 대하여 99.1-99.8%의 동일성을 나타내었다. 전체 20가지의 haplotype들이 발견되었고, 한국산 붉바리 집단은 19가지의 haplotype을 나타내었다. 이들 중 Hap_03과 Hap_08은 각각 제주도와 중국-특이적인 COI 서열들을 보였다. 반면, Hap_07은 한국에서 채집된 시료들과 홍콩과 대만에서 보고된 기록 등 여러 COI 서열들을 포함하였다. COI haplotype들의 다형성에 근거한 계통 유전학적 분석을 통해 작성된 NJ tree는 Epinephelus 속 내에서 단계통적인 분지양상을 나타내었고, 이는 붉바리 집단들이 공통의 모계 선조에서 진화한 것임을 나타내었다. 또한 중국해에서 보고된 COI 서열만을 포함하였던 Hap_08은 NJ tree의 중앙부에서 위치하였고, Hap_07의 서열들과도 근연의 관계임을 보여주었다. 이 결과는 중국산 붉바리 역시 동아시아의 다른 집단들과 모계적으로 연관되어있음을 보여주었다. 결과적으로, 동아시아 붉바리 집단들은 모계적으로 연관되어있을 뿐만 아니라 공통의 진화 역사를 공유하고 있으며 여전히 동아시아 해류(Kuroshio 해류)에 의해 영향을 받는 집단이라고 할 수 있다. 본 연구는 붉바리의 유전적 구조와 계통 유연관계를 이해하는 데 도움을 줄 수 있으며, 인공증식과 산업화에 관련된 연구에 있어 중요한 역할을 담당할 것으로 기대된다.

Nucleotide Divergence Analysis of IGS Region in Fusarium oxysporum and its formae speciales Based on the Sequence

  • Kim, Hyun-Jung;Min, Byung-Re
    • Mycobiology
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    • 제32권3호
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    • pp.119-122
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    • 2004
  • The intergenic spacer(IGS) sequence of Fusarium oxysporum have been reported to provide reliable information concerning intraspecific variation and phylogeny of fungal species. The eleven strains of Fusarium oxysporum and its formae speciales belonging to section Elegans were compared with sequencing analysis. The direct sequencing of partial IGS was carried out using PCR with primer NIGS1(5'-CTTCGCCTCGATTTCCCCAA-3')/NIGS2(5'-TCGTCGCCGACAGTTTTCTG-3') and internal primer NIGS3(5'-TCGAGGATCGATTCGAGG-3')/NIGS4(5'-CCTCGAATCGATCCTCGA-3'). A single PCR product was found for each strain. The PCR fragments were sequenced and revealed a few within species polymorphisms at the sequence level. The size of partial IGS sequencing of F. oxysporum was divided into three groups; $526{\sim}527$ bp including F. o. f. sp. chrysanthemi, cucumerinum, cyclaminis, lycopersici, and fragariae; $514{\sim}516$ bp including F. o. f. sp. lilii, conglutinans, and raphani; 435 bp for F. o. f. sp. cucumerinum from Korea. Sequence analysis of PCR products showed that transitions were more frequent than transversions as well as the average numbers of substitution per site were range 0.41% to 3.54%.

Genetic Polymorphisms in VIR Genes among Indian Plasmodium vivax Populations

  • Gupta, Purva;Pande, Veena;Das, Aparup;Singh, Vineeta
    • Parasites, Hosts and Diseases
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    • 제52권5호
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    • pp.557-564
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    • 2014
  • The vir genes are antigenic genes and are considered to be possible vaccine targets. Since India is highly endemic to Plasmodium vivax, we sequenced 5 different vir genes and investigated DNA sequence variations in 93 single-clonal P. vivax isolates. High variability was observed in all the 5 vir genes; the vir 1/9 gene was highly diverged across Indian populations. The patterns of genetic diversity do not follow geographical locations, as geographically distant populations were found to be genetically similar. The results in general present complex genetic diversity patterns in India, requiring further in-depth population genetic and functional studies.

Fusarium 균의 section Liseola에 대한 핵형 연구 (Study of Electrophoretic Karyotypes of Fusarium Section Liseola)

  • 밍병례;안미선;최영길
    • 미생물학회지
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    • 제35권3호
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    • pp.192-196
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    • 1999
  • Fusarium 균 중에서 section Liseola 에 속하는 8균주에 대하여 CHEF-PFGE를 이용하여 핵형을 분석비교하였다. 0.75 Mb에서 6.45Mb 크기의 DNA band가 9~13개로 분리되었고 전체 genome 크기는 38.19 Mb에서 43.22Mb 였으며 종간, 종내에서 염색체 길이 다형성을 볼 수 있었다. F. moniliforme 로부터 얻은 IGS sequence(2.6Kb), Neurospora crassa 의 chs-2 gene(2.8Kb) 과 trp-3gene(3.8 Kb)을 probe로 하여 hybridization을 통하여 이들 gene 의 위치를 확인하고자 하였다.

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Characterization of Ty3-gypsy-like Elements in Hibiscus syriacus

  • Jeung, Ji-Ung;Cho, Sung Ki;Lee, Seung Jae;Shin, Jeong Sheop
    • Molecules and Cells
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    • 제19권3호
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    • pp.318-327
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    • 2005
  • Southern blot analysis revealed a ubiquitous distribution and high copy number of Ty3-gypsy-like elements in the genome of Hibiscus syriacus. Comparative phylogenetic analysis of the large subunit of Rubisco and the integrase region of Ty3-gypsy elements in various plant species indicated that the retrotransposon-like sequences have different evolutionary histories and their own unique polymorphism in the H. syriacus population. Sequence-tagged site-restriction fragment length polymorphisms (STS-RFLP) analysis also indicated great variability in the numbers and sequences of Ty3-gypsy-like elements within H. syriacus varieties. Ty3-gypsy-like elements may still be active within H. syriacus, since Northern analysis of wounded leaves of H. syriacus variety Saehan with a probe for the integrase domain gave strong hybridization signals. The sequence heterogeneity and ubiquity of the Ty3-gypsy-like elements in H. syriacus genomes could provide reliable DNA markers for line identification as well for the analysis of genetic diversity in H. syriacus.

Utility of Selected Non-coding Chloroplast DNA Sequences for Lineage Assessment of Musa Interspecific Hybrids

  • Swangpol, Sasivimon;Volkaert, Hugo;Sotto, Rachel C.;Seelanan, Tosak
    • BMB Reports
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    • 제40권4호
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    • pp.577-587
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    • 2007
  • Single-copy chloroplast loci are used widely to infer phylogenetic relationship at different taxonomic levels among various groups of plants. To test the utility of chloroplast loci and to provide additional data applicable to hybrid evolution in Musa, we sequenced two introns, rpl16 and ndhA, and two intergenic spacers, psaA-ycf3 and petA-psbJ-psbL-psbF and combined these data. Using these four regions, Musa acuminata Cola(A)- and M. balbisiana Colla (B)-containing genomes were clearly distinguished. Some triploid interspecific hybrids contain A-type chloroplasts (the AAB/ABB) while others contain B-type chloroplasts (the BBA/BBB). The chloroplasts of all cultivars in 'Namwa' (BBA) group came from the same wild maternal origin, but the specific parents are still unrevealed. Though, average sequence divergences in each region were little (less than 2%), we propose that petA-psbJ intergenic spacer could be developed for diversity assessment within each genome. This segment contains three single nucleotide polymorphisms (SNPs) and two indels which could distinguish diversity within A genome whereas this same region also contains one SNP and an indel which could categorize B genome. However, an inverted repeat region which could form hairpin structure was detected in this spacer and thus was omitted from the analyses due to their incongruence to other regions. Until thoroughly identified in other members of Musaceae and Zingiberales clade, utility of this inverted repeat as phylogenetic marker in these taxa are cautioned.