• Title/Summary/Keyword: inv

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Pericentric Inversion of the X Chromosome in a Male with Azoospermia and in the Family of a Pregnant Female Carrier (무정자증을 보이는 남성과 정상 생식력을 가진 여성의 가계에서 관찰된 X 염색체의 Pericentric Inversion)

  • Lee, Bom-Yi;Ryu, Hyun-Mee;Lee, Moon-Hee;Park, Ju-Yeon;Kim, Jin-Woo;Lee, Joong-Shik;Kim, Hye-Ok;Kim, Min-Hyung;Park, So-Yeon
    • Journal of Genetic Medicine
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    • v.5 no.2
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    • pp.139-144
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    • 2008
  • We report on two cases of pericentric inversion of X chromosome. The cases were found in a 40-year-old man with azoospermia and in a family of a 38-year-old pregnant woman. The first case with 46,Y,inv(X)(p22.1q27) had concentrations of LH, prolactin, estradiol, and testosterone that were within normal ranges; however, FSH levels were elevated. Testis biopsy revealed maturation arrest at the primary and secondary spermatocytes without spermatozoa. There were no microdeletions in the 6 loci of chromosome Y. For the second case, the cytogenetic study of thepregnant woman referring for advanced maternal age and a family history of inversion X chromosome was 46,X,inv(X)(p22.11q27.2). The karyotype of her fetus was 46,X,inv(X)(p22.1q27). Among other family members, the karyotypes of an older sister in pregnancy and her fetus were 46,X,inv(X)(p22.11q27.2), and 46,Y,?inv(X), respectively. The proband's father was 46,Y,inv(X)(p22.11q27.2). All carriers in the family discussed above were fertile and phenotypically normal. In addition, the ratio of inactivation of inv(X) by RBG-banding was discordant between the two sisters, with the older sister having only 4.1% of cells carrying inactivated inv(X) while the proband had a 69.5% incidence of late replicating inv(X). Therefore, we suggest that the cause of azoospermia in the first case might be related to inversion X chromosome with positional effect. Also, the family of the second case showing normal phenotype of the balanced inv(X) might be not affected any positional effect of genes.

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Repetitive Pregnancy Loss in inv(22)(p13q12) Carrier

  • Kim, Do-Hoon;Ha, Jung-Sook;Rhee, Jeong-Ho
    • Journal of Genetic Medicine
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    • v.7 no.1
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    • pp.78-81
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    • 2010
  • Pericentric inversion is not rare in humans and is usually benign. However, pericentric inversion can lead to production of an unbalanced recombinant and might be a cause of repetitive pregnancy loss. Pericentric inversion of chromosome 22 is rare and only a few cases have been reported. We report a case of inv(22)(p13q12) carrier who had history of repetitive pregnancy loss including three spontaneous abortions and one fetal hydrops in which the chromosomal complement was rec(22)dup(22q) inv(22)(p13q12)mat. The maternal inv(22) and fetal rec(22) were confirmed by fluorescence in situ hybridization using region-specific probes (TUPLE1 on 22q11.2 and ARSA on 22q13). Because the identification of inv(22) or rec(22) in conventional karyotyping might be easily overlooked, great attention and additional molecular tests are required for accurate diagnosis of inv(22) and rec(22).

A Cytogenetic Analysis of Inversion as a Type of Structural Chromosome Aberration in Prenatal Diagnosis

  • Hwang, Si-Mok;Kwon, Kyoung-Hun;Jo, Yoon-Kyung;Yoon, Kyung-Ah
    • Biomedical Science Letters
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    • v.15 no.4
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    • pp.363-368
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    • 2009
  • One of the frequent occurrences in rearrangements is chromosome inversion. Pericentric inversion is considered to be the variant of normal karyotype. We investigated the karyotypes of 1195 cases being referred to prenatal diagnosis using standard GTG banding for karyotype preparation. The chromosomal analysis revealed a total of 15 (1.26%) inversions. The characteristics of inversion type [(inv(4), inv(8), inv(9), inv(11)) were investigated on the basis of chromosomal analyses of fetuses and their parents. The results from chromosomal examination of the parents, whose fetuses were diagnosed as inversion, show that either parent might be the carrier. Inversion in human chromosome is commonly seen in normal humans and the frequency estimated to be 1 to 2% in general population and the exact amount of this phenomenon is still unclear. These results indicate that inv(8), inv(9), and inv(11) are phenotypically normal. However these may often cause clinical problems in offspring of the carrier, such as fetal wastage repeated spontaneous abortions and infertility with unknown mechanisms related to sex. We describe an inversion of human chromosome and its clinical correlation with human genetic disease.

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Immunolocalization of Wound-Inducible Insoluble Acid Invertases in Pea (Pisum sativum L) (완두콩(Pisum sativum L.) 상처에서 유도되는 불용성 산성 인버타제의 면역조직화)

  • Kim, Donggiun;Lee, Taek-Kyun
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.16 no.9
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    • pp.6425-6431
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    • 2015
  • Invertase, that hydrolyzes sucrose into glucose and fructose, plays a great role in carbohydrate reallocation between the photosynthetic source tissue and various sink tissues. Invertase also occurs in a variety of isoforms for various functions in plants. Insoluble invertases were extracted only in buffer solutions containing high concentrations of salt. Within these classes, acid invertase has an optimum activity at acidic pH (pH 4-5). Induction of insoluble acid invertase (INAC-INV) in leaf, stem, and root tissues in response to physical wounding has been investigated. To detect the localization of INAC-INV within the plant, immunolocalization has been performed. In this study, the accumulation of INAC-INV was noticeable to reach maximum levels on 72 hr after mechanical injuries. INAC-INV was induced in wounded leaves 3 times more than control leaves. Immunolocalization results showed that INAC-INV accumulated in wall appositions and intercellular spaces. INAC-INV was also localized at sieve cell walls in phloem tissues close to the site of wounding. Taken together, this study suggested that INAC-INV induction upon wounding injuries can play a role on responses to the high energy demand for wound healing process.

Mutation of the invF Gene Encoding a Salmonella Pathogenicity Island 1 (SPI1) Activator Increases Expression of the SPI2 Gene, sseA (Salmonella Pathogenicity Island 1(SPI1)의 발현조절 유전자 invF의 변이가 SPI2 유전자(sseA)의 발현에 미치는 영향)

  • Han, Ah-Reum;Joe, Min-Ho;Kim, Dong-Ho;Baik, Sang-Ho;Lim, Sang-Yong
    • Microbiology and Biotechnology Letters
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    • v.40 no.1
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    • pp.70-75
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    • 2012
  • In Salmonella enterica, many genes encoded within Salmonella pathogenicity islands (SPI) 1 and 2 are required to cause a range of diseases in a variety of hosts. The SPI1-encoded regulator HilD activates both the SPI1 and 2 genes at different times during growth in Luria-Bertani (LB) media. In this study, the expression levels of hilD during growth in LB were investigated. The data suggest that hilD expression is induced in the early stationary phase and decreases in the late stationary phase, when sseA, an SPI2 gene, is maximally expressed. However, HilD could act as an activator of sseA expression in the late stationary phase despite being present at low levels. SseA expression was investigated in SPI1 regulator mutant strains, hilA, hilD and invF mutants. As expected, hilD mutation decreased sseA expression. However, we found that invF mutation caused a 1.5-fold increase in sseA expression in not only LB but also M9 minimal media, which is thought to resemble an intracellular environment. InvF overexpression restored sseA expression to wild-type levels in an invF mutant but did not cause an additional reduction in sseA expression. These results suggest that SPI1 controls SPI2 expression either positively or negatively.

Rapid Detection of Cochlodinium polykrikoides by Sandwich Hybridization Integrated with Invertase Assay (Invertase 분석이 통합된 sandwich hybridization에 의한 Cochlodinium polykrikoides의 신속 검출)

  • Kang, Mingyeong;Park, Mirye;Lee, Taek-Kyun
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.20 no.8
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    • pp.627-633
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    • 2019
  • Rapid and accurate identification of marine microalgae causing harmful algal blooms (HABs) is a crucial tool for predicting and managing HABs. We previously developed a nuclease protection assay sandwich hybridization (NPA-SH) method for the in situ detection of blooming microalgae Cochlodinium polykrikoides. In this study, we improved the applicability of the NPA-SH method for the detection of C. polykrikoides by simplifying the reaction step. For this purpose, invertase (INV) was conjugated to the signal probe instead of using fluorescence, and sucrose was used as a reactant to induce a color reaction. The INV-signal probe conjugation was confirmed by SDS-PAGE and epifluoromicroscopy. The treatment time and appropriate amounts of the probe and sucrose that optimized the reaction were determined. As a result, the developed INV-SH reduced the treatment time in the field compared with NPA-SH, and also enabled the use of a relatively small volume and low-priced personal glucose meter, as well as an absorbance meter. INV-SH is the first C. polykrikoides species identification technology to which INV has been applied and could be an improved field technique.

Detection of invA and spvC in Salmonella spp. isolated from duck farms (오리 농장에서 분리한 Salmonella속 균에서 invA 및 spvC gene의 검출)

  • Cho, Jae-Keun
    • Korean Journal of Veterinary Service
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    • v.33 no.4
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    • pp.341-344
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    • 2010
  • Poultry and poultry products have been implicated as a major source of Salmonella infection in human, and infection due to Salmonella serotypes continue to be a major health problem. The presence of two virulence genes, invA and spvC, in 34 Salmonella isolates obtained from duck farms was investigated. All isolates contained the invA gene, and spvC gene was found in 20 (58.8%) of 34 Salmonella isolates : S. Typhimurium (n=8), S. Fyris (n=5), S. Enteritidis (n=3), S. Typhimurium var. copenhagen (n=1), S. Haardt (n=1) and S. Mbandaka (n=1). This study showed the presence of the spvC gene was widely distributed in between different Salmonella enterica isolates.

Effects of Sulforaphane, Grapefruit Seed Extracts, and Reuterin on Virulence Gene Expression Using hilA and invF Fusion Strains of Salmonella typhimurium

  • Kim, Ji-Yeun;Ryu, Sang-Ryul;Ji, Geun-Eog
    • Food Science and Biotechnology
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    • v.16 no.5
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    • pp.778-782
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    • 2007
  • This study assessed the effects of the antimicrobial substances sulforaphane, grapefruit seed extracts (GSE), and reuterin on the expression of Salmonella HilA and InvF virulence gene using a LacZY assay (${\beta}$-galactosidase assay) with hilA:lacZY and invF:lacZY fusion strains of Salmonella typhimurium SL1344. Salmonella was grown for 8 hr at $37^{\circ}C$ in the presence of diluted antimicrobial substances ($2\;{\mu}g/mL$ sulforaphane, $20\{\mu}g/mL$ GSE, and 0.26 mM reuterin) at concentrations that did not inhibit the cellular growth of Salmonella. Sulforaphane inhibited the expression of HilA and InvF by 50-90 and 20-80%, respectively. GSE also inhibited the expression of both genes, but to a lesser degree. Among the 3 antimicrobial substances, reuterin showed the least inhibition, which was abolished after 3-4 hr. None of the antimicrobial substances inhibited the ${\beta}$-galactosidase enzyme activity of S. typhimurium. The assay used in this study represents a very sensitive method for screening bioactive substances that inhibit the expression of virulence genes in Salmonella.

Antifungal activities of peptides with the sequence 10-17 of magainin 2 at the N-termini against aspergillus fumigatus (Antifungal Activities of Peptides with the Sequence 10-17 of Magainin 2 at the N-termini against Aspergillus fumigatus)

  • Lee, Myung Kyu;Lee, Dong Gun;Shin Song Yub;Lee, Sung Gu;Kang Joo Hyun;Hahm, Kyung Soo
    • Journal of Microbiology
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    • v.34 no.3
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    • pp.274-278
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    • 1996
  • Two peptides, MA-inv AND MA-ME, with the sequence 10-17 of maganin 2 at their-N-termini were designed and synthesized. The peptides had higher antifungal activities against Aspergilus fumigatus without hemolytic activities. The minimal inhibition concentratory (MIC) values of both peptides against A. fumigatus were 5 .mu.g/ml, whereas those of the native peptides, magainin 2 and melittin, were 10.mu.g/ml. At 3 .mu.g/ml, MA-inv and MA-ME inhibited the mycelium growth of A. fumigatus by 94.6% and 97.3% respectively, whereas magainin 2 and melittin inhibited by 62.2% and 32.4, respectively. MA-inv showed up to 80% inhibition of (1, 3)-.betha.-D-glucan synthase activity of A. fumigatus. The peptides also showed up to 80% inhibition of (1, 3)-.betha.-D glucan synthase activity of A. fumigatus. The peptides also showed antifungal activities for other fungi of Aspergillus sp. However, the antibiotic activities of MA-ME against Escherichia coli, Bacillus subtilis and Fusarium oxysporum were more effective than those of MA-inv, suggesting that the C-terminal sequences of MA-inv and MA-ME may also influence their antibiotic activities. These results suggest that the N-terminal sequence of the designed peptides, KKFGKAFV, is important for their antifungal activities against A. fumigatus and their C- terminal sequences are related to the organism selectivity.

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A Novel Single Converter and Single Inverter (1Con-1Inv) Topology and Control Algorithm for Photovoltaic-Fuel Cell Hybrid System (태양광-연료전지 하이브리드 발전을 위한 새로운 단일 컨버터 및 단일 인버터 (1Con-1Inv) 회로 및 제어 알고리즘)

  • Kim, Jong-Soo;Choe, Gyu-Yeong;Lee, Byoung-Kuk;Won, Chung-Yuen;Lee, Tae-Won
    • The Transactions of The Korean Institute of Electrical Engineers
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    • v.58 no.11
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    • pp.2200-2208
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    • 2009
  • This paper presents a novel single converter and single inverter (1Con-1Inv) topology for photovoltaic (PV)-fuel cell (FC) hybrid system and a new control scheme for the PV-FC hybrid system is then proposed. The new topology and the unique algorithm can minimize volume and production cost of the hybrid system. Moreover, system efficiency can improve due to reduction of losses of hardware components and other control factors are well regulated using just 1Con-1Inv with the help of the proposed control algorithm. The validity of proposed algorithm is verified both computer simulation using PSIM and Matlab/Simulink program and experimental with 700W of PV and 600W of FC system.