• Title/Summary/Keyword: genetic alteration

검색결과 142건 처리시간 0.022초

번식 장애 한우의 혈액요소태질소 및 성 스테로이드 호르몬 농도 변화 (Alteration in Concentrations of Blood Urea Nitrogen and Sex Steroid Hormone in Korean Cattle with Reproductive Disorders)

  • 최창용;손동수;조상래;김현종;최선호;강다원
    • 한국수정란이식학회지
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    • 제23권1호
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    • pp.59-64
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    • 2008
  • The objective of this study is to investigate the changes in concentrations of blood urea nitrogen (BUN) and sex steroid hormones, such as estrogen, progesterone, and testosterone in Korean cattle (Hanwoo) with reproductive disorders and to examine the relationship between BUN and body condition score (BCS) in Hanwoo. The concentration of BUN was 16.2 mg/dl, 17.8 mg/dl, 15.1 mg/dl, 17.9 mg/dl, and 28.3mg/dl in pregnancy, repeat breeding, follicular cyst, luteal cyst, and ovarian atrophy, respectively. In Hanwoo with BCS $2.0{\sim}2.9$, $3.0{\sim}3.5$ and $3.6{\sim}4.0$, the concentration of BUN was 15.8 mg/dl, 17.0 mg/dl, and 17.6 mg/dl, respectively. Fluoroimmunoassay showed that serum estrogen and progesterone levels were decreased in reproductive disorders Hanwoo, such as ovarian atrophy, endometritis, and weak estrus. The testosterone level was significantly decreased in Hanwoo with reproductive disorders compared to that in pregnant Hanwoo ($0.02{\sim}0.03\;ng/ml$ vs 0.13 ng/ml, p<0.05). The progesterone and estrogen concentrations in follicular fluid obtained from ovary with follicular cyst were significantly higher (p<0.05) than those in normal follicle fluid. These results show that there is no relationship between BUN and BCS in Hanwoo, and the concentration of sex steroid hormone in serum and follicular fluid are changed in reproductive disorders Hanwoo.

비소세포폐암에서 종양억제유전자와 극소위성 변이에 관한 연구 (Genetic Alteration of Tumor Suppressor Gene and Microsatellite in Nonsmall Cell Lung Cancer)

  • 신태림;홍영숙;김진국;장중현
    • Tuberculosis and Respiratory Diseases
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    • 제49권4호
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    • pp.453-465
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    • 2000
  • 연구배경 : 폐암의 발생과정은 다양한 유전자 이상과 여러 가지경로 이상을 포함한 다단계 과정이다. 암유전자의 활성화나 종양억제유전자의 불활성화, 그리고 결과적인 유전적 불안정성의 증가는 폐암의 발암과정에서 일어나는 주요한 사건이며 임상적으로 폐암이 진단되기까지 10내지 20여 가지의 유전적 변화가 축적되는 것으로 알려져 있다. 본 연구에서 저자들은 비소세포폐암에서 종양억제유전자인 p53과 FHIT의 돌연변이, FHIT 유전자의 전사체 이상 여부를 확인하고 종양억제유전자부근에 위치하는 극소위성의 유전적 변화를 관찰하였다. 대상 및 방법 : 비소세포폐암으로 진단된 후 외과적 적출술을 시행받은 환자 29명의 생검조직과 그에 대응하는 동일인의 정상조직을 대상으로 하였다. p53과 FHIT의 돌연변이 여부는 PCR-SSCP, DNA 염기분석으로 확인하였고 D3S1285, D9S171, TP53에서 극소위성 불안정성과 이형접합성 상실은 PCR로 확인하였다. FHIT 유전자의 전사체 이상 여부 확인을 위해서는 RT-PCR을 사용하였다. 결과 : 1) p53 유전자의 2예에서 관찰되었고 모두 exon 5에서 1개의 염기가 치환되는 점돌연변이였다. 2) 극소위성 불안정성은 D3S1285와 D9S171에서 각각 2예, 1예, 이형접합성 상실은 D3S1285, D9S171, TP53에서 각각 3예, 4예, 7예가 관찰되었다. 3) FHIT 유전자의 변이는 11예에서 관찰되었으며 이중 6예는 exon 8의 codon 98에서 염기서열이 CAT가 CAC로 바뀌는 잠재적 치환이었다. 4) FHIT 유전자의 전사체 이상은 $\beta$-actin이 제대로 발현되는 15예중 4예에서 관찰되었으며 exon 6-9의 결실로 확인되었다. 결론 : 이상으로 비소세포폐암 발생에 p53, FHIT 유전자의 변이, 극소위성 불안정성과 이형접합성 상실 등 다양한 분자유전학적 기전이 복합적으로 작용할 것으로 생각되며 이번 연구에서 조사된 유전적 이상의 빈도는 앞서 발표된 서양의 연구결과와 대체적으로 일치한다. 특히 극소위성의 분석은 편평세포암에서 종양표지자로서의 역할이 기대된다. 이런 발암과정에 대한 이해는 예방, 진단 및 치료적 접근을 발전시키는데 도움을 줄 수 있을 것이고 향후 이들에 관한 가능적 연구들이 수행되어야 할 것이다.

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Alteration of Leaf Surface Structures of Poplars under Elevated Air Temperature and Carbon Dioxide Concentration

  • Kim, Ki Woo;Oh, Chang Young;Lee, Jae-Cheon;Lee, Solji;Kim, Pan-Gi
    • Applied Microscopy
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    • 제43권3호
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    • pp.110-116
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    • 2013
  • Effects of elevated air temperature and carbon dioxide ($CO_2$) concentration on the leaf surface structures were investigated in Liriodendron tulipifera (yellow poplar) and Populus tomentiglandulosa (Suwon poplar). Cuttings of the two tree species were exposed to elevated air temperatures at $27/22^{\circ}C$ (day/night) and $CO_2$ concentrations at 770/790 ppm for three months. The abaxial leaf surface of yellow poplar under an ambient condition ($22/17^{\circ}C$ and 380/400 ppm) had stomata and epicuticular waxes (transversely ridged rodlets). A prominent increase in the density of epicuticular waxes was found on the leaves under the elevated condition. Meanwhile, the abaxial leaf surface of Suwon poplar under an ambient condition was covered with long trichomes. The leaves under the elevated condition possessed a higher amount of long trichomes than those under the ambient condition. These results suggest that the two poplar species may change their leaf surface structures under the elevated air temperature and $CO_2$ concentration condition for acclimation of increased photosynthesis.

대장광상(大藏鑛床)의 지화학(地化學) 및 생성환경(生成環境) 연구(硏究) (Geochemistry and Genetic Environments of the Daejang Vein Deposits)

  • 신홍자;김문영;소칠섭
    • 자원환경지질
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    • 제20권1호
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    • pp.61-75
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    • 1987
  • The Daejang mine is one of the representatives of Cu-Pb-Zn-(Ag) vein deposit related genetically to late Cretaceous granitoid in Korea. Sericite from an alteration halo of the mine yielded a K-Ar date of $95{\pm}3.5Ma$. Based on macrostructures of vein filling, three major mineralization stages (I, II and III) are distinguished by tectonic breaks. Major ore constituents are arsenopyrite, pyrite, pyrrhotite, sphalerite, chalcopyrite, galena, boulangerite, with small amounts of Ag-bearing tetrahedrite, pyrargyrite, native bismuth, marcasite, siderite, ankerite, gudmundite and calcite. Characteristic feature of each mineralization stage and compositional variation of sphalerite and arsenopyrite are discussed in relation to the genetic environments. The FeS contents of sphalerites are 20.5~14.9 mole % in stage I, 17.9~11.9 mole % in stage IIA, 17.0~9.2 mole % in stage IIB, and 6.9~4.7 mole % in stage III. Their results are indicative of decreasing FeS contents during mineralization process in sphalerite coexisting with sulfur-rich sulfide assemblages, such as monoclinic pyrrhotite and pyrite, and is agreement with the conclusions shown by Scott and Kissin(1973). The composition of arsenopyrite decrease also in As content from stage I to stage III, and the compositional variation correlate with position of the associated minerals in the paragenesis. Temperature and pressure of the mineralization are determined as $250{\sim}430^{\circ}C$ and 4.0~0.3kb respectively, based on the chemistry of the minerals.

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Pyrolysis of Lignin Obtained from Cinnamyl Alcohol Dehydrogenase (CAD) Downregulated Arabidopsis Thaliana

  • Kim, Kwang Ho;Kim, Jae-Young;Kim, Chang Soo;Choi, Joon Weon
    • Journal of the Korean Wood Science and Technology
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    • 제47권4호
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    • pp.442-450
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    • 2019
  • Despite its potential as a renewable source for fuels and chemicals, lignin valorization still faces technical challenges in many aspects. Overcoming such challenges associated with the chemical recalcitrance of lignin can provide many opportunities to innovate existing and emerging biorefineries. In this work, we leveraged a biomass genetic engineering technology to produce phenolic aldehyde-rich lignin structure via downregulation of cinnamyl alcohol dehydrogenase (CAD). The structurally altered lignin obtained from the Arabidopsis thaliana CAD mutant was pyrolyzed to understand the effect of structural alteration on thermal behavior of lignin. The pyrolysis was conducted at 400 and $500^{\circ}C$ using an analytical pyrolyzer connected with GC/MS and the products were systematically analyzed. The results indicate that aldehyde-rich lignin undergoes fragmentation reaction during pyrolysis forming a considerable amount of C6 units. Also, it was speculated that highly reactive phenolic aldehydes facilitate secondary repolymerization reaction as described by the lower yield of overall phenolic compounds compared to wild type (WT) lignin. Quantum mechanical calculation clearly shows the higher electrophilicity of transgenic lignin than that of WT, which could promote both fragmentation and recondensation reactions. This work provides mechanistic insights toward biomass genetic engineering and its application to the pyrolysis allowing to establish sustainable biorefinery in the future.

Ehlers-Danlos syndrome VIII with novel C1R variant accompanying white matter changes

  • Seo, Go Hun;Kim, Yoon-Myung;Ghang, Byeongzu;Kim, Gu-Hwan;Lee, Beom Hee
    • Journal of Genetic Medicine
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    • 제16권1호
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    • pp.43-47
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    • 2019
  • Ehlers-Danlos syndrome (EDS) VIII is an autosomal dominant inherited connective tissue disorder characterized by intractable periodontal inflammation, absence of gingiva, pretibial plaques, skin hyperextensibility, joint hypermobility, and tissue fragility with onset in the childhood or adolescence. In a recent report, heterozygous variants of the C1R or C1S related to the classical complement pathway were identified in families with history of EDS VIII. The current report describes a Korean 34-year-old female carrying a novel missense variant of C1R c.925T>G (p.Cys309Gly) and exhibiting early severe periodontitis, skin fragility, and joint hypermobility. The patient also had frontal, parietal, and temporal white matter brain lesions without definite vascular abnormalities on brain magnetic resonance imaging, which have not been surveyed meticulously in EDS VIII. Considering the genetic alteration of classic complement pathways in this condition, it is necessary to carefully observe multisystemic inflammation processes such as changes in brain white matter.

Detection of KRAS mutations in plasma cell-free DNA of colorectal cancer patients and comparison with cancer panel data for tissue samples of the same cancers

  • Min, Suji;Shin, Sun;Chung, Yeun-Jun
    • Genomics & Informatics
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    • 제17권4호
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    • pp.42.1-42.6
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    • 2019
  • Robust identification of genetic alterations is important for the diagnosis and subsequent treatment of tumors. Screening for genetic alterations using tumor tissue samples may lead to biased interpretations because of the heterogeneous nature of the tumor mass. Liquid biopsy has been suggested as an attractive tool for the non-invasive follow-up of cancer treatment outcomes. In this study, we aimed to verify whether the mutations identified in primary tumor tissue samples could be consistently detected in plasma cell-free DNA (cfDNA) by digital polymerase chain reaction (dPCR). We first examined the genetic alteration profiles of three colorectal cancer (CRC) tissue samples by targeted next-generation sequencing (NGS) and identified 11 non-silent amino acid changes across six cancer-related genes (APC, KRAS, TP53, TERT, ARIDIA, and BRCA1). All three samples had KRAS mutations (G12V, G12C, and G13D), which were well-known driver events. Therefore, we examined the KRAS mutations by dPCR. When we examined the three KRAS mutations by dPCR using tumor tissue samples, all of them were consistently detected and the variant allele frequencies (VAFs) of the mutations were almost identical between targeted NGS and dPCR. When we examined the KRAS mutations using the plasma cfDNA of the three CRC patients by dPCR, all three mutations were consistently identified. However, the VAFs were lower (range, 0.166% to 2.638%) than those obtained using the CRC tissue samples. In conclusion, we confirmed that the KRAS mutations identified from CRC tumor tissue samples were consistently detected in the plasma cfDNA of the three CRC patients by dPCR.

Lack of RING Finger Domain (RFD) Mutations of the c-Cbl Gene in Oral Squamous Cell Carcinomas in Chennai, India

  • Rajendran, Senthilnathan;Muthupalani, Rajendran Shanmugam;Ramanathan, Arvind
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권2호
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    • pp.1073-1075
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    • 2013
  • Background: In normal cells, activated epidermal growth factor receptor (EGFR) molecules are subjected to ubiquitination-mediated proteasome degradation pathway by c-Cbl, an ubiquitin ligase that checks uncontrolled proliferation. Hence expression of wild type c-Cbl molecule is essential to keep this degradation machinery in a functional state. Loss of expression or function of c-Cbl may consequently lead to sustained activation of EGFR and promote carcinogenesis, loss of function mutations in the c-Cbl gene already being reported in lung and hematopoietic cancers. However, the genetic status of c-Cbl in oral squamous cell carcinoma (OSCC) is not known. Hence in the present study we investigated the genomic DNA isolated from OSCC tissue biopsy samples for mutations in the RING finger domain coding region of c-Cbl gene, which has also been reported to be most frequently mutated in other cancers. Materials and Methods: Total genomic DNA isolated from thirty two post surgical OSCC tissue samples were amplified using primers flanking the exon 8 of c-Cbl gene that codes for the RING finger domain. The PCR amplicons were then resolved in a 1.2% agarose gel, purified and subjected to direct sequencing to screen for mutations. Results: The sequencing data of the thirty two OSCC samples did not identify mutations in the RING finger domain coding region of c-Cbl gene. Conclusions: To the best of our knowledge, this is the first time that the genetic status of c-Cbl gene in OSCC samples has been investigated. The present data indicates that genetic alteration of RING finger domain coding region of c-Cbl gene is relatively infrequent in OSCC samples.

돼지 인플루엔자 바이러스의 혈청학적 역학조사 및 유전학적 분석 (Sero-epidemiology and genetic characterization of swine influenza virus)

  • 류영수;김로미
    • 대한수의학회지
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    • 제38권1호
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    • pp.53-63
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    • 1998
  • Total of 1085 swine sera (1996-1997) from nation-wide were tested for the presence of antibodies to influenza A virus. Fifty nine percent of the tested sera showed seropositive by HI test. Positive sera consisted of 24--- of H3, 15--- of H1, and 20--- of the sample had both antibodies, respectively. Sera collected from various region represented 7~27--- seropositivity to H1N1, 15~25--- to H3N2, respectively. Swine influenza field isolate from nasal swab was characterized antigenically and genetically to elucidate its relatedness with other known strains of influenza A virus. The study was focused on the HA gene which is related to pathogenecity and antigenic variability of the influenza virus. By RT-PCR using influenza A/H1N1 specific primers, influenza virus H1N1 specific DNA fragment was amplified from A/Swine/Iowa/15/30(H1N1), US field isolate but not in H3N2 strain. PCR products were sequenced by dideoxy chain termination method to determine nucleotide homology with other strains of influenza A virus. The US field isolate and A/Swine/Indiana/1726/88 strain had 97--- of nucleotide homology and 98--- of amino acid homology. Based on the results obtained from this experiment, the field isolate was genetically related to A/Swine/Indiana/1726/88 and had higher homology with A/Swine/Indiana/1726/88 than with classical swine influenza virus, A/Swine/Iowa/15/30. The field isolate had no amino acid changes at the antigenic site compare to that of the A/Swine/Indiana/1726/88. The proteolytic enzyme cleavage site between HA1 and HA2 had no alteration and the amino acid arginine was intact. There is no evidence has been found that the field isolate has genetic shift or genetic drift which might altered antigenic determinant.

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How Chromosome Mis-Segregation Leads to Cancer: Lessons from BubR1 Mouse Models

  • Lee, Hyunsook
    • Molecules and Cells
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    • 제37권10호
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    • pp.713-718
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    • 2014
  • Alteration in chromosome numbers and structures instigate and foster massive genetic instability. As Boveri has seen a hundred years ago (Boveri, 1914; 2008), aneuploidy is hall-mark of many cancers. However, whether aneuploidy is the cause or the result of cancer is still at debate. The molecular mechanism behind aneuploidy includes the chromosome mis-segregation in mitosis by the compromise of spindle assembly checkpoint (SAC). SAC is an elaborate network of proteins, which monitor that all chromosomes are bipolarly attached with the spindles. Therefore, the weakening of the SAC is the major reason for chromosome number instability, while complete compromise of SAC results in detrimental death, exemplified in natural abortion in embryonic stage. Here, I will review on the recent progress on the understanding of chromosome missegregation and cancer, based on the comparison of different mouse models of BubR1, the core component of SAC.