• Title/Summary/Keyword: gene set

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Mutation Spectra of BRCA Genes in Iranian Women with Early Onset Breast Cancer - 15 Years Experience

  • Yassaee, Vahid Reza;Ravesh, Zeinab;Soltani, Ziba;Hashemi-Gorji, Feyzollah;Poorhosseini, Seyed Mohammad;Anbiaee, Robab;Joulaee, Azadeh
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.sup3
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    • pp.149-153
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    • 2016
  • Breast cancer is the most common cancer in Iran. In the recent years an upward trend has been observed in the Iranian population. Early detection by molecular approaches may reduce breast cancer morbidity and mortality. We provided consultation to 3,782 women diagnosed with early onset breast cancer during the past 15 years (1999-2014). To establish a data set for BRCA gene alterations of the Iranian families at risk, two hundred and fifty four women who met our criteria were analyzed. A total number of 46 alterations including 18 variants with unknown clinical significance (39.1%), 18 missense mutations (39.1%), 7 Indels (15.2%) and 3 large rearrangement sequences (6%) were identified. Further scanning of affected families revealed that 49% of healthy relatives harbor identical causative mutations. This is the first report of comprehensive BRCA analysis in Iranian women with early onset breast cancer. Our findings provide valuable molecular data to support physicians as well as patients for the best decision making on disease management.

Microarray Data Retrieval Using Fuzzy Signature Sets (퍼지 시그너쳐 집합을 이용한 마이크로어레이 데이터 검색)

  • Lee, Sun-A;Lee, Keon-Myung;Ryu, Keun-Ho
    • Journal of the Korean Institute of Intelligent Systems
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    • v.19 no.4
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    • pp.545-549
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    • 2009
  • Microarray data sets could contain thousands of gene expression levels and have been considered as an important source from which meaningful patterns could be extracted for further analysis in biological studies. It is sometimes necessary to retrieve out specific genes or samples of analyst's interest in an effective way. This paper is concerned with a method to make use of fuzzy signature set in order to filter out genes or samples which satisfy complicated constraints as well as simple ones. Fuzzy signatures are an extension of vector valued fuzzy sets, in which elements of the vector are allowed to have a vector. Fuzzy signature sets are similar to fuzzy signatures except that their leaf elements are fuzzy sets defined on the interval [0,1]. This paper introduces an extension of fuzzy signature sets which specifies aggregation operators at each internal node and comparison operators for aggregation. It also shows how to use the extended fuzzy signature sets in microarray data retrieval and some examples of its usage.

Agronomic Characteristics of Rice Recombinant Inbred Lines (RILs) Developed from a Cross of Nonganbyeo and BG 279

  • Lee, Jeom-Ho;Kim, Nam-Soo;Cho, Youn-Sang;Song, Moon-Tae;Hwang, Hung-Goo;Moon, Huhn-Pal
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.44 no.1
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    • pp.86-94
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    • 1999
  • A set of rice recombinant inbred lines was developed from a cross between a Tongil type variety, Nonganbyeo, and an indica variety, BG276, by the single seed descent method. The number of the lines in the population was 272. All the agronomic characters studied except ADV (alkali-digestion value) showed continuous variation among the RILs, implying that their inheritance mode should be quantitative. The patterns of the variation in the RILs were either normal or skewed distribution. ADVs of RILs were segregated into two groups with 1:1 ratio, indicating that ADVs in this KIL population might be controlled by one major gene. Transgressive variations were also observed in all characters. Heritability values of the characters varied from 0.488 in brown/rough rice ratio to 0.895 in alkali-digestion value. In the analysis of genotypic and phenotypic correlations, the character of yield was positively correlated with 8 different agronomic characters. The number of panicles per hill was negatively correlated with culm length, panicle length, and number of spikelets per panicle. Grain length was positively correlated with grain width, grain thickness, grain length/width ratio, white belly, ADV, and amylose. However, grain length/width ratio was negatively correlated with grain width. White core was also negatively correlated with white belly and ADV.

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Occurrence of Sesame Phyllody Disease in Korea and Detection of Its Phytoplasma (참깨 엽화병의 발생과 파이토플라스마의 검출)

  • Han, Mu-Seok;Noh, Eun-Woon;Yun, Jeong-Koo
    • Korean Journal Plant Pathology
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    • v.13 no.4
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    • pp.239-243
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    • 1997
  • In August 1996, phyllody disease of sesame (Sesamum indicum L.) caused by phytoplasmas was observed at Boeun, Chungbuk Province, Korea. Symptoms included extreme proliferation of growing tips and numerous small leaves, giving the infected plant a witche's-broom effect. Parts or all of the floral parts were transformed into green leaf-like structures, and little or no seeds were produced. Transmission Electron microscopy revealed the presence of phytoplasmas in the phloem sieve elements of infected plant. Since the infected sesame plants were growing near by phytoplasma infected jujubes (Zizyphus jujubu), we tried a polymerase chain reaction (PCR) technique to identify these two causal phytoplasmas. The DNA extracted from the stems of infected sesame plant was PCR-amplified using a primer set specific to 16S rRNA gene of known phytoplasmas. The amplification generated a 1.4kb band in both sesame samples and phytoplasma-infected jujubes, which also suggests the sesame plants were infected with phytoplasmas. The restriction digestion of the amplified band by four different enzymes, AluI, HaeIII, HinfI or TaqI revealed that the phytoplasmas infecting jujubes and sesame plants were of different groups.

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Identification of Coupling and Repulsion Phase DNA Marker Associated With an Allele of a Gene Conferring Host Plant Resistance to Pigeonpea sterility mosaic virus (PPSMV) in Pigeonpea (Cajanus cajan L. Millsp.)

  • Daspute, Abhijit;Fakrudin, B.
    • The Plant Pathology Journal
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    • v.31 no.1
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    • pp.33-40
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    • 2015
  • Pigeonpea Sterility Mosaic Disease (PSMD) is an important foliar disease caused by Pigeonpea sterility mosaic virus (PPSMV) which is transmitted by eriophyid mites (Aceria cajani Channabasavanna). In present study, a F2 mapping population comprising 325 individuals was developed by crossing PSMD susceptible genotype (Gullyal white) and PSMD resistant genotype (BSMR 736). We identified a set of 32 out of 300 short decamer random DNA markers that showed polymorphism between Gullyal white and BSMR 736 parents. Among them, eleven DNA markers showed polymorphism including coupling and repulsion phase type of polymorphism across the parents. Bulked Segregant Analysis (BSA), revealed that the DNA marker, IABTPPN7, produced a single coupling phase marker (IABTPPN $7_{414}$) and a repulsion phase marker (IABTPPN $7_{983}$) co-segregating with PSMD reaction. Screening of 325 F2 population using IABTPPN7 revealed that the repulsion phase marker, IABTPPN $7_{983}$, was co-segregating with the PSMD responsive SV1 at a distance of 23.9 cM for Bidar PPSMV isolate. On the other hand, the coupling phase marker IABTPPN $7_{414}$ did not show any linkage with PSMD resistance. Additionally, single marker analysis both IABTPPN $7_{983}$ (P<0.0001) and IABTPPN $7_{414}$ (P<0.0001) recorded a significant association with the PSMD resistance and explained a phenotypic variance of 31 and 36% respectively in $F_2$ population. The repulsion phase marker, IABTPPN7983, could be of use in Marker-Assisted Selection (MAS) in the PPSMV resistance breeding programmes of pigeonpea.

Highly Specific Detection of Five Exotic Quarantine Plant Viruses using RT-PCR

  • Choi, Hoseong;Cho, Won Kyong;Yu, Jisuk;Lee, Jong-Seung;Kim, Kook-Hyung
    • The Plant Pathology Journal
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    • v.29 no.1
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    • pp.99-104
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    • 2013
  • To detect five plant viruses (Beet black scorch virus, Beet necrotic yellow vein virus, Eggplant mottled dwarf virus, Pelargonium zonate spot virus, and Rice yellow mottle virus) for quarantine purposes, we designed 15 RT-PCR primer sets. Primer design was based on the nucleotide sequence of the coat protein gene, which is highly conserved within species. All but one primer set successfully amplified the targets, and gradient PCRs indicated that the optimal temperature for the 14 useful primer sets was $51.9^{\circ}C$. Some primer sets worked well regardless of annealing temperature while others required a very specific annealing temperature. A primer specificity test using plant total RNAs and cDNAs of other plant virus-infected samples demonstrated that the designed primer sets were highly specific and generated reproducible results. The newly developed RT-PCR primer sets would be useful for quarantine inspections aimed at preventing the entry of exotic plant viruses into Korea.

The Effect of Cold-adaptation on Stress Responses and Identification of a Cold Shock Gene, capA in Bradyrhizobium japonicum (Bradyrhizobium japonicum의 저온 전처리에 의한 환경스트레스 내성 증진에 대한 연구)

  • 유지철;노재상;오은택;소재성
    • Korean Journal of Microbiology
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    • v.38 no.1
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    • pp.45-49
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    • 2002
  • Bradyrhizobium japonicum is a soil bacterium with a unique ability to infect the roots of leguminous plants and establish a nitrogen-fixing symbiosis, which has been used as a microbial manure. In this study, we examined the stress response after pretreatment of cells with cold temperature. When pre-treated with cold temperature ($4^{\circ}C$) for 16 hr, B. japonicum increased the viability in subsequent stress-conditions such as alcohol, $H_2O_2$, heat, and dehydration. For cold adpatation, cultured B. japonicum was exposed to $4^{\circ}C$. Upon subsequent exposure to various conditions, the number of adapted cells pretreated by cold adaptation was 10-1000 fold higher than that of non-adaptated ones. It appeared de novo protein synthesis occurred during adaptation, because a protein synthesis inhibitor, chloramphenicol abolished the increased stress tolerance. By using a degenerate PCR primer set, a csp homolog was amplified from B. japonicum genome and sequenced. The deduced partial amino acid sequence of the putative Csp (Cold shock protein) shares a significant similarity with known Csp proteins of other bacteria.

Detection of Ralstonia solanacearum with Nested PCR and DNA Enzyme-Linked Immunosorbent Assay (Nested PCR과 DNA Enzyme-Linked Immunosorbent Assays를 이용한 Ralstonia solanacearum의 검출)

  • Ko, Young-Jin;Cho, Hong-Bum
    • Korean Journal of Microbiology
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    • v.43 no.3
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    • pp.179-185
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    • 2007
  • In this study, we used the method of guanidin isothiocyanate and boiling with Chelex-100 resin to extract genomic DNA of Ralstonia solanacearum from soil. It is more efficient than general protocols to remove inhibitory compounds in soil and R. solanacearum on. Then, we applied polymerase chain reaction and DNA enzyme-linked immunosorbent assay (ELISA) to identify and detect pathogen. The fliC gene of R. solanacearum was selected for specific detection of pathogen and primer sets were designed. Among the primer sets, two specific and sensitive primer sets, RsolfliC(forward: 5-GAACGCCAACGGTGCGAACT-3 and reverse; 5-GGCGGCCTTCAGGGAGGTC-3, designed by J. $Sch\ddot{o}nfeld$ et al.) and RS_247 (forward: 5-GGCGGTCTGTCGGCRG-3 and reverse; 5-CGGTCGCGTTGGCAAC-3 designed by this study), were designed to perform nested PCR. Nested PCR primer was labeled with biotin for hybridization between nested PCR product and probe to analyze with DNA ELISA.

Animal species identification by co-amplification of hypervariable region 1 (HV1) and cytochrome b in mitochondrial DNA

  • Lim, Si Keun;Park, Ki Won
    • Analytical Science and Technology
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    • v.18 no.3
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    • pp.257-262
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    • 2005
  • Mitochondrial DNA (mt DNA) sequence analysis has been a useful tool for species identification of animals and human individuals. Two hypervariable regions (HV1 and HV2) in control region of mitochondrial genome were analyzed for human individual identification. In case of animal species identification, several genes on mt DNA such as cytochrome b (cytb), RNAs, cytochrome oxidases (CO) were used. In this study, co-amplification of HV1 and cytb was carried out in order to check the contamination of animal DNA and to verify the human DNA. The primer sets used in PCR were H15997/L16236 for HV1 and H14724/L15149 for cytb. PCR products for HV1 and cytb were 239 bp and 425 bp, respectively. The appearance of two bands on agarose gel implied the DNA came from human, however the single band of cytb gene represented the non-human animal DNA.

Teucrium polium L. Improved Heart Function and Inhibited Myocardial Apoptosis in Isolated Rat Heart Following Ischemia-Reperfusion Injury

  • Mahmoudabady, Maryam;Talebian, Faezeh Sadat;Zabihi, Narges Amel;Rezaee, Seyed Abdolrahim;Niazmand, Saeed
    • Journal of Pharmacopuncture
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    • v.21 no.3
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    • pp.159-167
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    • 2018
  • Objectives: Myocardial reperfusion is the only logical cure for ischemic heart disease. However, ischemic-reperfusion (I/R) injury is one of the underlying factors facilitating and accelerating the apoptosis in the myocardium. This study set to investigate the impact of Teucrium polium (TP) hydro-alcoholic extract on I/R induced apoptosis in the isolated rat heart. Methods: Isolated rat hearts were classified into six groups. The control samples were subjected to 80 min of perfusion with Krebs-Henseleit bicarbonate (KHB) buffer; in control-ischemia group, after primary perfusion (20 min) the hearts were exposed to global ischemia (20 min) and reperfusion (40 min). Pretreated groups were perfused with $500{\mu}M$ of vitamin C and various TP concentrations (0.5, 1, 2 mg/ml) for 20 min, and then the hearts were exposed to ischemia and reperfusion for 20 min and 40 min, respectively. Cardiodynamic parameters including rate pressure product (RPP), heart rate (HR), the maximum up/down rate of left ventricular pressure (${\pm}dp/dt$), left ventricular developed pressure (LVDP), and coronary artery flow (CF) were achieved from Lab Chart software data. The Bax and BCl-2 gene expressions were measured in heart samples. Results: Hearts treated with TP extract and vit C represented a meaningful improvement in cardiac contractile function and CF. The overexpression of Bcl-2, downregulation of Bax, and improvement of apoptotic index (Bax/Bcl-2) were observed in pretreated TP extract and vit C hearts. Conclusion: The TP extract was found to ameliorate the cardiac function in the reperfused myocardium. Also, it can hinder apoptotic pathways causing cardioprotection.