• Title/Summary/Keyword: single gene analysis

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Single Nucleotide Polymorphisms in the Gc Gene for Vitamin D Binding Protein in Common Cancers in Thailand

  • Maneechay, Wanwisa;Boonpipattanapong, Teeranut;Kanngurn, Samornmas;Puttawibul, Puttisak;Geater, Sarayut Lucien;Sangkhathat, Surasak
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.8
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    • pp.3339-3344
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    • 2015
  • Background: This case-control study aimed to determine if there were any associations between the two single nucleotide polymorphisms (SNPs) in Gc, rs7041 (Asp416Glu) and rs4588 (Thr420Lys) and 3 common cancers (breast, lung and colorectal) in Thai patients. Materials and Methods: Two hundred and eighty two colorectal, 101 breast and 113 lung cancer patients were recruited from one institute during 2011-2013. The controls were age-matched volunteers who had a negative history of index cancers. In addition, vitamin D levels were compared among different genotypes in the 2 SNPs. Results: The minor allele frequencies of rs7041 (G) and rs4588 (A) were 0.32 and 0.24, respectively. Under the dominant model, the study found significant associations between minor-allele genotypes of the SNP rs7041 (TG/GG) and lung cancer (odds ratio [OR] 1.78, 95% CI 1.05-3.03). When subgroup analysis was performed according to sex and age at diagnosis, the study found that the minor-allele genotypes of rs7041 (TG/GG) were significantly associated with colorectal cancer in patients whose age at diagnosis was more than 60 years (OR 1.67, 95%CI 1.06-2.61) and the minor-allele genotypes of rs4588 (CA/AA) were significantly associated with colorectal cancer in males aged 60 years or less (OR 2.34, 95%CI 1.25-4.37). When SNP combinations (rs7041-rs4588) were examined, the TT-CA combination had a significant protective association with lung cancer (OR 0.44, 95% CI 0.22-0.85). On evaluation of serum 25(OH)D levels in 205 individuals without cancer (males 144, females 61), the proportion of subjects with low serum vitamin D (< 20 ng/ml) in those harboring CA or AA genotypes of rs4588 (41.7%) was significantly higher than the CC genotype (15.5%, p-value < 0.01). Conclusions: Genetic polymorphisms in Gc were associated with lung and colorectal cancers in Thai patients. Lower serum 25(OH)D in minor variants of rs4588 may explain this association.

Distribution of HCV Genotypes in Chronic Korean HCV Patients

  • Lee, Kyung-Ok;Jeong, Su-Jin;Byun, Ji-Young;Shim, Ae-Sug;Seong, Hye-Soon;Kim, Kyung-Tae
    • Korean Journal of Clinical Laboratory Science
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    • v.39 no.1
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    • pp.49-55
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    • 2007
  • HCV is a single-stranded RNA virus and more than 1 million new cases are reported annually worldwide. The six major HCV genotypes and numerous subtypes vary in their geographic distribution. It is thought that genetic heterogeneity of HCV may account for some of the differences in disease outcome and response to treatment observed in HCV infected persons. In this study, we determined HCV genotypes among chronic Korean HCV patients and evaluated direct sequence PCR protocols developed. For the study, 232 chronic HCV patient sera were used. HCV RNA was extracted and two pairs of consensus PCR primers were selected in 5'UTR region for amplification of HCV RNA. Amplification products obtained from the HCV positive cases were subjected to automatic sequencing. Sequences were compared with those in GenBank by using the BLAST program. From this study, five HCV genotypes, 1b, 2a, 2b, 2c and 3a were found. HCV genotypes 4, 5 and 6 were not determined. HCV genotype 1b (53.9%, 125/232) and 2a (35.8%, 83/232) were most frequently found. This group was followed by 2b (3.9%, 9/232), 3a (3.4%, 8/232) and 2c (3.0%, 7/232). The data presented here suggest a complex distribution of HCV types and they were well correlated with other reports on Koreans and will be helpful for type-specific follow-up of Korean HCV patients. This study showed that 5'UTR direct sequence analysis is a sensitive and rapid method to identify HCV genotypes.

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Effects of Single Total Body Irradiation (TBI) on the Peripheral Blood of Piglets (돼지에서 단일 전신 방사선 조사 용량에 따른 혈액변화 관찰)

  • Lee, Jae-Hoon;Kang, Eun-Hee;Chung, Dai-Jung;Kim, Dong-Ku;Kim, Jae-Hwan;Shin, Hyun-Soo;Ahn, Jung-Yong;Park, Jin-Ki;Chang, Won-Kyong;Choi, Chi-Bong;Kim, Hwi-Yool
    • Journal of Life Science
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    • v.17 no.12
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    • pp.1654-1659
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    • 2007
  • We examined total body irradiation (TBI)-induced effects by complete blood count (CBC) and fluorescence-activated cell sorter analysis (FACS) in the piglet following radiation irritation. A CBC included red blood cell count, white blood cell count, and platelet cell count. Four piglets were examined in this study and each piglet was divided by irradiation dose, two piglets with 4 Gy, two with 6 Gy, one with 8 Gy. All piglets showed leukopenia, thrombocytopenia after irradiation. In 6 and 8 Gy group, three piglets showed severe hemostatic disorder and gastrointestinal disorder suchas diarrhea and anorexia, and they died between 10 and 15 days after radiation irritation. In 4 Gy, two piglets showed no clinical sign after radiation injury, but persistent leukopenia was shown in blood examination. We suggest that a single TBI dose less than 6 Gy is adequate for conditioning piglet for bone marrow transplantation.

A Study of the Diversity and Profile for Extracellular Enzyme Production of Aerobically Cultured Bacteria in the Gut of Muraenesox cinereus (갯장어(Muraenesox cinereus) 장으로부터 호기적 조건에서 분리된 미생물의 다양성 및 세포외 효소 생산능 분석에 관한 연구)

  • Lee, Yong-Jik;Oh, Do-Kyoung;Kim, Hye Won;Nam, Gae-Won;Sohn, Jae Hak;Lee, Han-Seung;Shin, Kee-Sun;Lee, Sang-Jae
    • Journal of Life Science
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    • v.29 no.2
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    • pp.248-255
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    • 2019
  • This research confirmed the diversity and characterization of gut microorganisms isolated from the intestinal organs of Muraenesox cinereus, collected on the Samcheonpo Coast and Seocheon Coast in South Korea. To isolate strains, Marine agar medium was basically used and cultivated at $37^{\circ}C$ and pH7 for several days aerobically. After single colony isolation, totally 49 pure single-colonies were isolated and phylogenetic analysis was carried out based on the result of 16S rRNA gene DNA sequencing, indicating that isolated strains were divided into 3 phyla, 13 families, 15 genera, 34 species and 49 strains. Proteobacteria phylum, the main phyletic group, comprised 83.7% with 8 families, 8 genera and 26 species of Aeromonadaceae, Pseudoalteromonadaceae, Shewanellaceae, Enterobacteriaceae, Morganellaceae, Moraxellaceae, Pseudomonadaceae, and Vibrionaceae. To confirm whether isolated strain can produce industrially useful enzyme or not, amylase, lipase, and protease enzyme assays were performed individually, showing that 39 strains possessed at least one enzyme activity. Especially the Aeromonas sp. strains showed all enzyme activity tested. This result indicated that isolated strains have shown the possibility of the industrial application. Therefore, this study has contributed for securing domestic genetic resources and the expansion of scientific knowledge of the gut microbial community in Muraenesox cinereus of South Korea.

The Association of Long Noncoding RNA LOC105372577 with Endoplasmic Reticulum Protein 29 Expression: A Genome-wide Association Study (ERp29 유전자 발현과 관련된 long noncoding RNA LOC105372577의 전장 유전체 연관성 분석)

  • Lee, Soyeon;Kwon, Kiang;Ko, Younghwa;Kwon, O-Yu
    • Journal of Life Science
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    • v.31 no.6
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    • pp.568-573
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    • 2021
  • This study identified genomic factors associated with endoplasmic reticulum protein (ERp)29 gene expression in a genome-wide association study (GWAS) of genetic variants, including single-nucleotide polymorphisms (SNPs). In total, 373 European genes from the 1000 Genomes Project were analyzed. SNPs with an allelic frequency of less than or more than 5% were removed, resulting in 5,913,563 SNPs including in the analysis. The following expression quantitative trait loci (eQTL) from the long noncoding RNA LOC105372577 were strongly associated with ERp29 expression: rs6138266 (p<4.172e10), rs62193420 (p<1.173e10), and rs6138267 (p<2.041e10). These were strongly expressed in the testis and in the brain. The three eQTL were identified through a transcriptome-wide association study (TWAS) and showed a significant association with ERp29 and osteosarcoma amplified 9 (OS9) expression. Upstream sequences of rs6138266 were recognized by ChIP-seq data, while HaploReg was used to demonstrate how its regulatory DNA binds upstream of transcription factor 1 (USF1). There were no changes in the expression of OS9 or USF1 following ER stress.

First Report of Tomato Spotted Wilt Virus in Oxypetalum coeruleum in Korea (옥시페탈룸에서 발생한 토마토반점위조바이러스 국내 첫 보고)

  • Eseul, Baek;Peter, Palukaitis;Ju-Yeon, Yoon
    • Research in Plant Disease
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    • v.28 no.4
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    • pp.231-236
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    • 2022
  • Oxypetalum coeruleum, commonly known as Tweedia, is a perennial herbaceous plant of the Apocynaceae family native to southern Brazil and Uruguay. Tweedia plants are grown as one of the most popular ornamental flowers for floral arrangement in Korea. In May 2021, several tweedia plants in a single greenhouse in Gimje, Jeollabuk-do were found to show virus-like symptoms including necrotic rings, vein-clearing, chlorotic mottle, and mosaic on the leaves, and necrosis on the stems. Here, we have identified tomato spotted wilt virus (TSWV) in symptomatic tweedia leaves by applying high-throughput RNA sequencing. In the result, a single infection by TSWV was verified without mixed infections of different virus species. To confirm the presence of TSWV, a reverse transcription polymerase chain reaction was performed with a specific primer set to the N gene of TSWV. The complete genomic sequence of L, M, and S segments of TSWV 'Oxy' isolate were determined and deposited in GenBank under accession numbers LC671525, LC671638, and LC671639, respectively. In the phylogenetic tree analysis by maximum likelihood method, 'Oxy' isolate showed a high relationship with TSWV 'Gumi' isolate from Gerbera jamesonii in Gyeongsangbuk-do, Korea; for all three RNA segments. To our knowledge, this is the first report of TSWV infection of O. coeruleum in Korea.

Convolution Neural Network for Prediction of DNA Length and Number of Species (DNA 길이와 혼합 종 개수 예측을 위한 합성곱 신경망)

  • Sunghee Yang;Yeone Kim;Hyomin Lee
    • Korean Chemical Engineering Research
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    • v.62 no.3
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    • pp.274-280
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    • 2024
  • Machine learning techniques utilizing neural networks have been employed in various fields such as disease gene discovery and diagnosis, drug development, and prediction of drug-induced liver injury. Disease features can be investigated by molecular information of DNA. In this study, we developed a neural network to predict the length of DNA and the number of DNA species in mixture solution which are representative molecular information of DNA. In order to address the time-consuming limitations of gel electrophoresis as conventional analysis, we analyzed the dynamic data of a microfluidic concentrating device. The dynamic data were reconstructed into a spatiotemporal map, which reduced the computational cost required for training and prediction. We employed a convolutional neural network to enhance the accuracy to analyze the spatiotemporal map. As a result, we successfully performed single DNA length prediction as single-variable regression, simultaneous prediction of multiple DNA lengths as multivariable regression, and prediction of the number of DNA species in mixture as binary classification. Additionally, based on the composition of training data, we proposed a solution to resolve the problem of prediction bias. By utilizing this study, it would be effectively performed that medical diagnosis using optical measurement such as liquid biopsy of cell-free DNA, cancer diagnosis, etc.

POTENTIAL OF NIRS FOR SUPPORTING BREEDING AND CULTIVATION OF MEDICINAL AND SPICE PLANTS

  • Schulz, Hartwig;Steuer, Boris;Kruger, Hans
    • Proceedings of the Korean Society of Near Infrared Spectroscopy Conference
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    • 2001.06a
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    • pp.1162-1162
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    • 2001
  • Whereas NIR spectroscopy has been applied in agriculture for more than 20 years, few studies refer to those plant substances occurring only in smaller amounts. Nevertheless there is a growing interest today to support efficiently activities in the production of high-quality medicinal and spice plants by this fast and non-invasive method. Therefore, it was the aim of this study to develop new NIR methods for the reliable prediction of secondary metabolites found as valuable substances in various plant species. First, sophisticated NIR methods were established to perform fast quality analyses of intact fennel, caraway and dill fruits deriving from single-plants [1]. Later on, a characterization of several leaf drugs and the corresponding fresh material has been successfully performed. In this context robust calibrations have been developed for dried peppermint, rosemary and sage leaves for the determination of their individual essential oil content and composition [2]. A specially adopted NIR method has been developed also for the analysis of carnosic acid in the leaves of numerous rosemary and sage gene bank accessions. Carnosic acid is an antioxidative substance for which several health promoting properties including cancer preservation are assumed. Also some other calibrations have been developed for non-volatile substances such as aspalathin (in unfermented rooibos leaves), catechins (in green tea) and echinacoside (in different Echinacea species) [3]. Some NIR analyses have also been successfully performed on fresh material, too. In spite of the fact that these measurements showed less accuracy in comparison to dried samples, the calibration equations are precise enough to register the individual plant ontogenesis and genetic background. Based on the information received, the farmers and breeders are able to determine the right harvest time (when the valuable components have reached their optimum profile) and to select high-quality genotypes during breeding experiments, respectively. First promising attempts have also been made to introduce mobile diode array spectrometers to collect the spectral data directly on the field or in the individual natural habitats. Since the development of reliable NIRS methods in this special field of application is very time-consuming and needs continuous maintenance of the calibration equations over a longer period, it is convenient to supply the corresponding calibration data to interested user via NIRS network. The present status of all activities, preformed in this context during the last three years, will be presented in detail.

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The MTHFR C677T Polymorphism and Prostate Cancer Risk: New Findings from a Meta-analysis of 7306 Cases and 8062 Controls

  • Zhang, Wei-Bing;Zhang, Jun-Hong;Pan, Zheng-Qi;Yang, Qi-Sheng;Liu, Bo
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.6
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    • pp.2597-2604
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    • 2012
  • Methylenetetrahydrofolate reductase (MTHFR) is an essential enzyme involved in folate metabolism; a single nucleotide polymorphism (SNP) C677T has been reported to be linked with altered incidences of several diseases. We here conducted a meta-analysis of 15 published epidemiological studies with a total of 7306 cases and 8062 controls to evaluate its association with prostate cancer risk with overall and subgroup analyses. No statistical relationship was found overall with any genetic model (TT vs. CC: OR = 0.80, 95%CI = [0.62, 1.04], P = 0.094; CT vs. CC: OR = 0.97, 95%CI = [0.84; 1.12], P = 0.667; Dominant: OR = 0.94, 95%CI = [0.82; 1.07], P = 0.343; Recessive: OR = 0.81, 95%CI = [0.64; 1.04], P = 0.104), but after the exclusion of several studies, we could observe the homozygote TT to confer less susceptibility to prostate cancer in carriers; moreover, different effects of the polymorphism on prostate cancer risk was detected from subgroup analysis stratified by participants' residential region: significant reduced prostate cancer risk was found to be associated with the polymorphism from Asian studies (TT vs. CC: OR = 0.47, 95%CI = [0.33; 0.67], P < 0.001; CT vs. CC: OR = 0.73, 95%CI = [0.60; 0.90], P = 0.002; Dominant: OR = 0.67, 95%CI = [0.56; 0.82], P < 0.001; Recessive: OR = 0.55, 95%CI = [0.40; 0.76], P < 0.001) while studies from Europe indicated a slight increased risk under dominant model with marginal significance (OR = 1.14, 95%CI = [0.99; 1.30], P = 0.064). Moreover, the protective effect of the polymorphism against prostate cancer was also shown by studies performed in yellow Asians (TT vs. CC: OR = 0.48, 95%CI = [0.31; 0.75], P = 0.001; CT vs. CC: OR = 0.68, 95%CI = [0.51; 0.90], P = 0.006; Dominant: OR = 0.63, 95%CI = [0.48; 0.82], P < 0.001; Recessive: OR = 0.57, 95%CI = [0.39; 0.84], P = 0.004). We propose that these phenomena should be viewed with the consideration of folate metabolism profile and different gene background as well as living habits of different populations, and more relevant studies should be conducted to confirm our hypothesis and provide a comprehensive and clear picture concerning this topic.

Development of Molecular Markers for the authentication of Zanthoxyli Pericarpium by the analysis of rDNA-ITS DNA barcode regions (rDNA-ITS DNA 바코드 부위 분석을 통한 산초(山椒) 기원종 감별용 유전자 마커 개발)

  • Kim, Wook Jin;Ji, Yunui;Lee, Young Mi;Kang, Young Min;Choi, Goya;Moon, Byeong Cheol
    • The Korea Journal of Herbology
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    • v.30 no.3
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    • pp.41-47
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    • 2015
  • Objectives : Due to the morphological similarity of the pericarp and description of multi-species in National Pharmacopoeia of Korea and China, the Zanthoxylum Pericarpium is difficult to authenticate adulterant in species levels. Therefore, we introduced the sequence analysis of DNA barcode and identification of single nucleotide polymorphism(SNP) to establish a reliable tool for the distinction of Zanthoxylum Pericarpium from its adulterants. Methods : To analyze DNA barcode region, genomic DNA was extracted from twenty-four specimens of authentic Zanthoxylum species and inauthentic adulterant and the individual internal transcribed spacer regions (rDNA-ITS and ITS2) of nuclear ribosomal RNA gene were amplified using ITS1, ITS2-S2F, and ITS4 primer. For identification of species-specific sequences, a comparative analysis was performed using entire DNA barcode sequences. Results : In comparison of four Zanthoxylum ITS2 sequences, we identified 16, 4, 6, and 4 distinct species-specific nucleotides enough to distinguish Z. schinifolium, Z. bungeanum, Z. piperitum, and Z. simulans, respectively. The sequence differences were available genetic marker to discriminate four species. Futhermore, phylogenetic relationship revealed a clear classification between different Zanthoxylum species showing 4 different clusters. These results indicated that comparative analysis of ITS2 DNA barcode was an useful genetic marker to authenticate Zanthoxylum Pericarpium in species levels. Conclusions : The marker nucleotides, enough to distinguish Z. schinifolium, Z. piperitum, Z. bungeanum, and Z. simulans, were obtained at 30 SNP marker nucleotides from ITS2 sequences. These differences could be used to authenticate official Zanthoxylum Pericarpium from its adulterants as well as discriminating each four species.