• Title/Summary/Keyword: genetic system

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Detection of Superior Markers for Polymerase Chain Reaction Diagnosis of Breast Cancer Micrometastasis in Sentinel Lymph Nodes

  • Shargh, Shohreh Alizadeh;Movafagh, Abolfazl;Zarghami, Nosratolah;Sayad, Arezou;Mansouri, Neda;Taheri, Mohammad;Pour, Atefeh Heidary;Iranpour, Mostafa;Ghaedi, Hamid;Montazeri, Vahid;Massoudi, Nilofar;Hashemi, Mehrdad;Mortazavi-Tabatabaei, SA
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.sup3
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    • pp.179-183
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    • 2016
  • Breast cancer is the most prevalent type of cancer among women around the world, and mortality is primarily caused by micro-metastatic disease. The complex mechanisms of breast cancer invasion and metastasis are intrinsically related to the malignant cell type so that early detection of micro-metastases can help prolongation of survival for patient. The aim of the present research work was evaluation of the expression status of mammoglobin protein as a candidate molecular marker in the negative sentinel lymph node (SLN). Fifty tumor specimens, and 50 normal adjacent breast tissue samples from the same patients were selected on the basis of having more than 10% tumor content for RNA extraction from SLNs. Tumor samples and normal adjacent breast tissue were archived in the form of frozen fresh tissue in liquid nitrogen. Real-time PCR was performed on a Bioner life express gradient thermal cycler system. Mammoglobin gene overexpression in breast cancer metastasis was investigated. Single marker results were mammaglobin 66.7% and CK19 50.0%, with 58.3% for the two in combination. Due to improved outcome with at least 3 genes (83.3%), it seems, triple marker evaluation will be most likely useful for detecting micro-metastases instead of studying separate genes.

Performance Evaluation of Karan Fries and Karan Swiss Cattle under Closed Breeding System

  • Singh, M.K.;Gurnani, M.
    • Asian-Australasian Journal of Animal Sciences
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    • v.17 no.1
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    • pp.1-6
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    • 2004
  • The 490 and 380 performance records of Karan Fries and Karan Swiss cows developed through crossbreeding followed by inter-se mating were evaluated for production, reproduction performance and disposal rate. Duration of study (1982-92) was grouped into five periods (1982-83; 1984-85; 1986-87; 1988-89; 1990-92) and each year was divided into four seasons (Winter: Dec.-Jan.; Spring: Feb.-March; Summer: April-June; Rainy: July-Sept.; Autumn: Oct.-Nov). Data were also classified according to sire and level of inbreeding. The least squares means of FLY (first lactation yield -305 days), FLL (first lactation length), FSP (first service period), FDP (first dry period), FCI (first calving interval ), MY/FLL (milk yield per day of first lactation length), MY/FCI (milk yield per day of first calving interval), EBV (expected breeding value) and EBE (expected breeding efficiency) were $3,173{\pm}82$ kg, $34611{\pm}$days, $143{\pm}11$ days, $75{\pm}6$ days, $423{\pm}11$ days, $10.6{\pm}0.2$ kg, $8.9{\pm}0.2$ kg, $3,380{\pm}26$ kg, and $88.2{\pm}1.3$% respectively in Karan Fries. Corresponding estimates in Karan Swiss cows were $2,616{\pm}82$ kg, $328{\pm}8$ days, $148{\pm}12$ days, $103{\pm}9$ days, $435{\pm}13$ days, $8.9{\pm}0.2$ kg, $7.2{\pm}0.3$ kg, $2,924{\pm38}$ kg and $86.0{\pm}3.8$% respectively. The effect of sire was significant on FLY, MY/FLL, MY/FCI and EBV in both the herd (p<0.01). The 10 and 15% sires showed superiority (FLY) over herd average of 11 and 7% in Karan Fries and 32 and 21% in Karan Swiss cattle respectively. Inbreeding has adversely and significantly (p<0.05) affected the FLY, MY/FLL, MY/FCI and survivability of Karan Fries females; FDP and disposal through culling of Karan Swiss heifers. The Karan Fries heifers with inbreeding above 12.5% performed 16% lower FLY to herd average. The effect of season of calving was significant on FLL, FSP and FCI (p<0.05) in Karan Fries. Summer calvers ($361{\pm}12$) were have higher lactation length and autumn calvers ($329{\pm}14$) had minimum. Period of calving significantly influenced the FSP, FCI, MY/FLL and MY/FCI in Karan Fries and FLY, MY/FLL and MY/FCI in Karan Swiss. Production efficiency traits in Karan Fries herd witnessed higher yield in the last two periods whereas, Karan Swiss heifers showed fluctuating performance. The findings suggested judicious use of available genetic variability, keeping of inbreeding under safer level and managemental interventions for the consistent improvement of both herds.

Polymorphism of Bovine Lymphocyte Antigen DRB3.2 Alleles in Iranian Native Sarabi Cows

  • Pashmi, M.;Ghorashi, S.A.;Salehi, A.R.;Moini, M.;Javanmard, A.;Qanbari, S.;Yadranji-Aghdam, S.
    • Asian-Australasian Journal of Animal Sciences
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    • v.19 no.6
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    • pp.775-778
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    • 2006
  • Sarabi cows (n = 136) from the Sarabi Breeding Station were genotyped at bovine lymphocyte antigen (BoLA)-DRB3.2 locus by a genotyping system that used the polymerase chain reaction and restriction fragment length polymorphism. Genomic DNA was extracted from whole blood samples. A two-step polymerase chain reaction was carried out in order to amplify a 284 base-pair fragment of target gene. Nested-PCR products were digested with three restriction endonuclease enzymes RsaI, BstYI and HaeIII. Digested fragments were analyzed by polyacrylamide gel electrophoresis. Twenty-six BoLA-DRB3.2 alleles were identified with frequencies ranging from 0.4 to 15.1%. Six new allele types observed in this study have not been reported previously. Identified alleles include: BoLA-DRB3.$2^*1$, $^*2$, $^*4$, $^*6$, $^*8$, $^*12$, $^*13$, $^*14$, $^*15$, $^*16$, $^*17$, $^*23$, $^*24$, $^*25$, $^*28$, $^*32$, $^*34$, $^*35$, $^*36$, $^*37$, $^*42$, $^*46$, $^*51$, $^*kba$, $^*laa$ and $^*vaa$. Their frequencies were found to be 0.4, 0.4, 0.7, 11.4, 1.1, 1.8, 2.9, 2.2, 4.4, 9.6, 1.1, 13.6, 0.4, 0.4, 1.1, 0.7, 0.4, 6.2, 2.2, 3.7, 1.1, 7.7, 1.5, 15.1, 2.6 and 7.3% respectively. The six most frequent alleles (DRB3.2 $^*6$, $^*16$, $^*23$, $^*46$, $^*kba$ and $^*vaa$) accounted for 64.7% of the alleles in the population of this herd. Numerous studies on this locus, covering different breeds, has revealed the existence of various alleles in this locus, and new investigations have introduced novel alleles. With respect to the high number of the observed alleles in this survey and the novelty of some alleles with no previous record of reporting, it is plausible to conclude that the BoLA-DRB3.2 locus is highly polymorphic in Iranian native Sarabi cows.

Screening for Lynch Syndrome in Young Colorectal Cancer Patients from Saudi Arabia Using Microsatellite Instability as the Initial Test

  • Alqahtani, Masood;Grieu, Fabienne;Carrello, Amerigo;Amanuel, Benhur;Mashour, Miral;Alattas, Rabab;Al-Saleh, Khalid;Alsheikh, Abdulmalik;Alqahtani, Sarah;Iacopetta, Barry
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.4
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    • pp.1917-1923
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    • 2016
  • Background: Lynch Syndrome (LS) is a familial cancer condition caused by germline mutations in DNA mismatch repair genes. Individuals with LS have a greatly increased risk of developing colorectal cancer (CRC) and it is therefore important to identify mutation carriers so they can undergo regular surveillance. Tumor DNA from LS patients characteristically shows microsatellite instability (MSI). Our aim here was to screen young CRC patients for MSI as a first step in the identification of unrecognized cases of LS in the Saudi population. Materials and Methods: Archival tumor tissue was obtained from 284 CRC patients treated at 4 institutes in Dammam and Riyadh between 2006 and 2015 and aged less than 60 years at diagnosis. MSI screening was performed using the BAT-26 microsatellite marker and positive cases confirmed using the pentaplex MSI analysis system. Positive cases were screened for BRAF mutations to exclude sporadic CRC and were evaluated for loss of expression of 4 DNA mismatch repair proteins using immunohistochemistry. Results: MSI was found in 33/284 (11.6%) cases, of which only one showed a BRAF mutation. Saudi MSI cases showed similar instability in the BAT-26 and BAT-25 markers to Australian MSI cases, but significantly lower frequencies of instability in 3 other microsatellite markers. Conclusions: MSI screening of young Saudi CRC patients reveals that approximately 1 in 9 are candidates for LS. Patients with MSI are strongly recommended to undergo genetic counselling and germline mutation testing for LS. Other affected family members can then be identified and offered regular surveillance for early detection of LS-associated cancers.

CYP2W1, CYP4F11 and CYP8A1 Polymorphisms and Interaction of CYP2W1 Genotypes with Risk Factors in Mexican Women with Breast Cancer

  • Cardenas-Rodriguez, N.;Lara-Padilla, E.;Bandala, C.;Lopez-Cruz, J.;Uscanga-Carmona, C.;Lucio-Monter, P.F.;Floriano-Sanchez, E.
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.3
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    • pp.837-846
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    • 2012
  • Breast cancer (BCa) is the leading type of cancer in Mexican women. Genetic factors, such as single nucleotide polymorphisms (SNP) of P450 system, have been reported in BCa. In this report, and for the first time in the literature, we analyzed the rs3735684 (7021 G>A), rs11553651 (15016 G>T) and rs56195291 (60020 C>G) polymorphisms in the CYP2W1, 4F11 and 8A1 genes in patients with BCa and in healthy Mexican women to identify a potential association between these polymorphisms and BCa risk. Patients and controls were used for polymorphism analysis using an allelic discrimination assay with TaqMan probes and confirmed by DNA sequencing. Links with clinic-pathological characteristics were also analyzed. Statistical analysis was performed using the standard ${\chi}^2$ or Fisher exact test statistic. No significant differences were observed in the distributions of CYP2W1 (OR 8.6, 95%CI 0.43-172.5 P>0.05; OR 2.0, 95%CI 0.76-5.4, P>0.05) and CYP4F11 (OR 0.3, 95%CI 0.01-8.4 P>0.05) genotypes between the patients and controls. Only the CYP8A1 CC genotype was detected in patients with BCa and the controls. All polymorphism frequencies were in Hardy-Weinberg Equilibrium (HWE) in the controls (P>0.05). We found a significant association between BCa risk and smoking, use of oral contraceptives or hormonal replacement therapy (HRT), obesity, hyperglycemia, chronic diseases, family history of cancer and menopausal status in the population studied (P<0.05). Tobacco, oral contraceptive or HRT, chronic diseases and obesity or overweight were strongly associated with almost eight, thirty-five, nine and five-fold increased risk for BCa. Tobaco, obesity and hyperglycemia significantly increased the risk of BCa in the patients carrying variant genotypes of CYP2W1 (P<0.05). These results indicate that the CYP2W1 rs3735684, CYP4F11 rs11553651 and CYP8A1 rs56195291 SNPs are not a key risk factor for BCa in Mexican women. This study did not detect an association between the CYP2W1, 4F11 and 8A1 genes polymorphisms and BCa risk in a Mexican population. However, some clinico-pathological risk factors interact with CYP2W1 genotypes and modifies susceptibility to BCa.

Proteomic analysis of human serum from patients with temporal lobe epilepsy (측두엽 간질환자의 혈청에서 프로테오믹스기법을 활용한 질병관련 단백질 동정)

  • Lee, Chang Woo;Yu, Seung Taek;Choi, Ha Young;Koh, Bun Jeong;Kwak, Yong Guen
    • Clinical and Experimental Pediatrics
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    • v.52 no.5
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    • pp.567-575
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    • 2009
  • Purpose : Epilepsy affects more than 0.5% of the world's population. It has a large genetic component and is caused by electrical hyperexcitability in the central nervous system. Despite its prevalence, the disease lacks definitive diagnostic serological biomarkers. To identify potential biomarkers for epilepsy by a convenient method, we analyzed the expression of serum proteins, reflecting alterations in the patient's proteomes. Methods : We compared two-dimensional electrophoretic band patterns of human sera from eight patients with temporal lobe epilepsy (TLE) with those of eight control subjects. The differentially expressed bands were identified using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry and electrospray ionization quadrupole time-of-flight mass spectrometry. esults : Twelve proteins were differentially expressed in the TLE group, of which 6 were identified. Expression of haptoglobin Hp2, PRO2675, immunoglobulin heavy chain constant region gamma 2, an unnamed protein, and three unidentified proteins were upregulated in serum from the patients with TLE, whereas those of major histocompatibility complex (MHC) class I antigen, plasma retinol-binding protein precursor, and three unidentified proteins were downregulated in these patients. After resection of the epileptogenic zone, the expressions of MHC class I antigen, immunoglobulin heavy chain constant region gamma 2, two of the downregulated unidentified proteins, and one of the upregulated unidentified proteins returned to the normal range. Conclusion : The 12 serum proteins in this study are potentially useful biomarkers for the diagnosis and monitoring of TLE.

Genome-wide association study reveals genetic loci and candidate genes for average daily gain in Duroc pigs

  • Quan, Jianping;Ding, Rongrong;Wang, Xingwang;Yang, Ming;Yang, Yang;Zheng, Enqin;Gu, Ting;Cai, Gengyuan;Wu, Zhenfang;Liu, Dewu;Yang, Jie
    • Asian-Australasian Journal of Animal Sciences
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    • v.31 no.4
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    • pp.480-488
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    • 2018
  • Objective: Average daily gain (ADG) is an important target trait of pig breeding programs. We aimed to identify single nucleotide polymorphisms (SNPs) and genomic regions that are associated with ADG in the Duroc pig population. Methods: We performed a genome-wide association study involving 390 Duroc boars and by using the PorcineSNP60K Beadchip and two linear models. Results: After quality control, we detected 3,5971 SNPs, which included seven SNPs that are significantly associated with the ADG of pigs. We identified six quantitative trait loci (QTL) regions for ADG. These QTLs included four previously reported QTLs on Sus scrofa chromosome (SSC) 1, SSC5, SSC9, and SSC13, as well as two novel QTLs on SSC6 and SSC16. In addition, we selected six candidate genes (general transcription factor 3C polypeptide 5, high mobility group AT-hook 2, nicotinamide phosphoribosyltransferase, oligodendrocyte transcription factor 1, pleckstrin homology and RhoGEF domain containing G4B, and ENSSSCG00000031548) associated with ADG on the basis of their physiological roles and positional information. These candidate genes are involved in skeletal muscle cell differentiation, diet-induced obesity, and nervous system development. Conclusion: This study contributes to the identification of the casual mutation that underlies QTLs associated with ADG and to future pig breeding programs based on marker-assisted selection. Further studies are needed to elucidate the role of the identified candidate genes in the physiological processes involved in ADG regulation.

Assessing the Impact of Climate Change on Water Resources: Waimea Plains, New Zealand Case Example

  • Zemansky, Gil;Hong, Yoon-Seeok Timothy;Rose, Jennifer;Song, Sung-Ho;Thomas, Joseph
    • Proceedings of the Korea Water Resources Association Conference
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    • 2011.05a
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    • pp.18-18
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    • 2011
  • Climate change is impacting and will increasingly impact both the quantity and quality of the world's water resources in a variety of ways. In some areas warming climate results in increased rainfall, surface runoff, and groundwater recharge while in others there may be declines in all of these. Water quality is described by a number of variables. Some are directly impacted by climate change. Temperature is an obvious example. Notably, increased atmospheric concentrations of $CO_2$ triggering climate change increase the $CO_2$ dissolving into water. This has manifold consequences including decreased pH and increased alkalinity, with resultant increases in dissolved concentrations of the minerals in geologic materials contacted by such water. Climate change is also expected to increase the number and intensity of extreme climate events, with related hydrologic changes. A simple framework has been developed in New Zealand for assessing and predicting climate change impacts on water resources. Assessment is largely based on trend analysis of historic data using the non-parametric Mann-Kendall method. Trend analysis requires long-term, regular monitoring data for both climate and hydrologic variables. Data quality is of primary importance and data gaps must be avoided. Quantitative prediction of climate change impacts on the quantity of water resources can be accomplished by computer modelling. This requires the serial coupling of various models. For example, regional downscaling of results from a world-wide general circulation model (GCM) can be used to forecast temperatures and precipitation for various emissions scenarios in specific catchments. Mechanistic or artificial intelligence modelling can then be used with these inputs to simulate climate change impacts over time, such as changes in streamflow, groundwater-surface water interactions, and changes in groundwater levels. The Waimea Plains catchment in New Zealand was selected for a test application of these assessment and prediction methods. This catchment is predicted to undergo relatively minor impacts due to climate change. All available climate and hydrologic databases were obtained and analyzed. These included climate (temperature, precipitation, solar radiation and sunshine hours, evapotranspiration, humidity, and cloud cover) and hydrologic (streamflow and quality and groundwater levels and quality) records. Results varied but there were indications of atmospheric temperature increasing, rainfall decreasing, streamflow decreasing, and groundwater level decreasing trends. Artificial intelligence modelling was applied to predict water usage, rainfall recharge of groundwater, and upstream flow for two regionally downscaled climate change scenarios (A1B and A2). The AI methods used were multi-layer perceptron (MLP) with extended Kalman filtering (EKF), genetic programming (GP), and a dynamic neuro-fuzzy local modelling system (DNFLMS), respectively. These were then used as inputs to a mechanistic groundwater flow-surface water interaction model (MODFLOW). A DNFLMS was also used to simulate downstream flow and groundwater levels for comparison with MODFLOW outputs. MODFLOW and DNFLMS outputs were consistent. They indicated declines in streamflow on the order of 21 to 23% for MODFLOW and DNFLMS (A1B scenario), respectively, and 27% in both cases for the A2 scenario under severe drought conditions by 2058-2059, with little if any change in groundwater levels.

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Application on Multi-biomarker Assessment in Environmental Health Status Monitoring of Coastal System (해역 건강도 평가를 위한 다매체 바이오마커 적용)

  • Jung, Jee-Hyun;Ryu, Tae-Kwon;Lee, Taek-Kyun
    • Ocean and Polar Research
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    • v.30 no.1
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    • pp.109-117
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    • 2008
  • Application of biomarkers for assessing marine environmental health risk is a relatively new field. According to the National Research Council and the World Health Organization, biomarkers can be divided into three classes: biomarkers of exposure, biomarkers of effect, and biomarkers of susceptibility. In order to assess exposure to or effect of the environmental pollutants on marine ecosystem, the following set of biomarkers can be examined: detoxification, oxidative stress, biotransformation products, stress responses, apoptosis, physiological metabolisms, neuromuscular responses, reproductions, steroid hormones, antioxidants, genetic modifications. Since early 1990s, several biomarker research groups have developed health indices of marine organisms to be used for assessing the state of the marine environment. Biomarker indices can be used to interpret data obtained from monitoring biological effects. In this review, we will summarize Health assessment Index, Biomarker Index, Bioeffect Assessment Index and Generalized Linear Model. Measurements of biomarker responses and development of biomarker index in marine organisms from contaminated sites offer great a lot of information, which can be used in environmental monitoring programs, designed for various aspects of ecosystem risk assessment.

Cisplatin and Extract of Tissue Cultured Mountain Ginseng-Induced Apoptosis in Human Cervical Cancer Cells (인체 자궁암세포에서 cisplatin과 산삼배양근추출물에 의한 apoptosis유도)

  • Lee, Myeong-Seon
    • Applied Microscopy
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    • v.40 no.3
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    • pp.133-138
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    • 2010
  • Mountain ginseng is a perennial crop rarely found in the deep mountains of Korea. The medicinal effect of the mountain ginseng is well known as a panacea in traditional Chinese medicine for a long time. But scientific studies to elucidate the medicinal effect of the mountain ginseng have never been made on account of lack of sample. Recently an improved method of adventitious root culture system through the use of bioreactor has been developed in Panax ginseng that seems to be a reliable way of commercialization of root derived secondary metabolites. This experiment was conducted to evaluated chemotherapeutic effect against human cervical cancer cells by cisplatin (CDDP) and extract of tissue cultured mountain ginseng (ETCMG). CDDP and ETCMG-induced apoptotic cell death in human cervical cancer cell line, HeLa was confirmed by the analysis of cell growth, morphological changes, DNA fragmentation, flow cytometry showed that ETCMG is an inducer of apoptosis and synergizes with CDDP. These results suggest that ETCMG present evidence of anticancer effect and could have a possibly natural therapeutic potential in cervical cancer patients.