• Title/Summary/Keyword: DNA variants

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Prediction Value of XRCC 1 Gene Polymorphism on the Survival of Ovarian Cancer Treated by Adjuvant Chemotherapy

  • Miao, Jin;Zhang, Xian;Tang, Qiong-Lan;Wang, Xiao-Yu;Kai, Li
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.10
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    • pp.5007-5010
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    • 2012
  • Objective: We conducted a prospective study to test the association between three amino acid substitution polymorphismic variants of DNA repair genes, XRCC1 (Arg194Trp), XRCC1(Arg280His) and XRCC1 (Arg399Gln), and clinical outcome of ovarian cancer patients undergoing adjuvant chemotherapy. Methods: 195 patients with primary advanced ovarian cancer and treated by adjuvant chemotherapy were included in our study. All were followed-up from Jan. 2007 to Jan. 2012. Genotyping of XRCC1 polymorphisms was conducted by TaqMan Gene Expression assays. Results: The XRCC1 194 Trp/Trp genotype conferred a significant risk of death from ovarian cancer when compared with Arg/Arg (HR=1.56, 95%CI=1.04-3.15). Similarly, those carrying the XRCC1 399 Gln/Gln genotype had a increased risk of death as compared to the XRCC1 399Arg/Arg genotype with an HR (95% CI) of 1.98 (1.09-3.93). Conclusion: This study is the first to provide evidence that XRCC1 gene polymorphisms would well be useful as surrogate markers of clinical outcome in ovarian cancer cases undergoing adjuvant chemotherapy.

Molecular Cloning, Transcriptome Profiling, and Characterization of Histone Genes in the Dinoflagellate Alexandrium pacificum

  • Riaz, Sadaf;Sui, Zhenghong
    • Journal of Microbiology and Biotechnology
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    • v.28 no.7
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    • pp.1185-1198
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    • 2018
  • The nucleosomal organization of chromatin using histone proteins is a fundamental and ubiquitous feature of eukaryotic nuclei, with the major exception of dinoflagellates. Although a number of recent genomic and transcriptomic analyses have detected numerous histone genes in dinoflagellates, little is known about their expression. Here in, we aimed to investigate the expression pattern of histone genes under nutritional stress, and an attempt was made to detect histone expression at the protein level in Alexandrium pacificum. The presence of histones at the mRNA level was confirmed in this study by the amplification, cloning, and sequencing of 10 different genes. Relative expression profiling of these genes under different growth conditions was determined with real-time PCR and revealed considerable levels of histone transcription in nutritionally stressed cells. We were unable to detect the expression of histones at the protein level even after immunodetection and analysis using mass spectrometry, although a histone-like protein was detected as a major nuclear component. A. pacificum expresses multiple variants of histone, and protein sequences revealed both conservation and divergence with respect to other eukaryotes. We concluded that A. pacificum maintained an active transcription of histone genes within the cell, and enhanced expression of histone genes in nutritional stress strongly suggest that histones have functional significance in dinoflagellates, although expression at the protein level was below our current detection limits, which suggests a limited role of histones in DNA packaging. Finally, the plausible regulation of histone expression at the gene and protein levels in A. pacificum is discussed.

Genetic Variants Associated with Calorie and Macronutrient Intake in a Genome-Wide Association Study (열량 및 열량영양소 섭취량과 관련된 유전자 변이에 대한 전장유전체 연관성 분석연구)

  • Baik, In-Kyung;Ahn, Youn-Jhin;Lee, Seung-Ku;Kim, So-Ri-Wul;Han, Bok-Ghee;Shin, Chol
    • Journal of Nutrition and Health
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    • v.43 no.4
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    • pp.357-366
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    • 2010
  • There has been no genome-wide association study (GWAS) for macronutrient intake as a quantitative trait. To explore genetic loci associated with total calorie and macronutrient intake, genome-wide association data of autosomal single nucleotide polymorphisms (SNPs) from Korean adults were analyzed. We conducted a GWAS in 3,690 men and women aged 40 to 60 years from an urban population-based cohort. At the baseline examination (June 18, 2001 through January 29, 2003), DNA samples of the study subjects were collected and analyzed for genotyping. The information of average daily consumption of total calorie, carbohydrate, protein, and fat was obtained from a semi-quantitative food frequency questionnaire and transformed by natural logarithm for analyses after adjustment of calorie intake. Using multivariate linear regression analysis adjusted for age, sex, and height, we tested for 352,021 SNPs and found weak associations, which do not reach genome-wide association significance, with calorie and macronutrient intake. However, a number of SNPs were found to have potential associations with macronutrient intake; in particular, signals in SORBS1 and those in PRKCB1 were likely associated with carbohydrate and fat intake, respectively. We observed an inverse association between the minor allele of the SNPs in these genes and the amount of consumption of carbohydrate or fat. Our GWAS identified loci and minor alleles weakly associated with macronutrient intake. Because SORBS1 and PRKCB1 are reportedly associated with the metabolism of glucose and lipid as well as with obesity-related diseases, further investigations on biological and functional roles of polymorphism of these genes in the relation to macronutrient intake are warranted.

Genetic Diversity of Echinococcus granulosus in Center of Iran

  • Pestechian, Nader;Safa, Ahmad Hosseini;Tajedini, Mohammadhasan;Rostami-Nejad, Mohammad;Mousavi, Mohammad;Yousofi, Hosseinali;Javanmard, Shaghayegh Haghjooy
    • Parasites, Hosts and Diseases
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    • v.52 no.4
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    • pp.413-418
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    • 2014
  • Hydatid cyst caused by Echinococcus granulosus is one of the most important parasitic diseases around the world and many countries in Asia, including Iran, are involved with this infection. This disease can cause high mortality in humans as well as economic losses in livestock. To date, several molecular methods have been used to determine the genetic diversity of E. granulosus. So far, identification of E. granulosus using real-time PCR fluorescence-based quantitative assays has not been studied worldwide, also in Iran. Therefore, the aim of this study was to investigate the genetic diversity of E. granulosus from center of Iran using real-time PCR method. A total of 71 hydatid cysts were collected from infected sheep, goat, and cattle slaughtered in Isfahan, Iran during 2013. DNA was extracted from protoscolices and/or germinal layers from each individual cyst and used as template to amplify the mitochondrial cytochrome c oxidase subunit 1 gene (cox1) (420 bp). Five cattle isolates out of 71 isolates were sterile and excluded from further investigation. Overall, of 66 isolates, partial sequences of the cox1 gene of E. granulosus indicated the presence of genotypes G1 in 49 isolates (74.2%), G3 in 15 isolates (22.7%), and G6 in 2 isolates (3.0%) in infected intermediate hosts. Sixteen sequences of G1 genotype had microgenetic variants, and they were compared to the original sequence of cox1. However, isolates identified as G3 and G6 genotypes were completely consistent with original sequences. G1 genotype in livestock was the dominant genotype in Isfahan region, Iran.

Begomoviruses and Their Emerging Threats in South Korea: A Review

  • Khan, Mohammad Sajid;Ji, Sang-He;Chun, Se-Chul
    • The Plant Pathology Journal
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    • v.28 no.2
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    • pp.123-136
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    • 2012
  • Diseases caused by begomoviruses (family Geminiviridae, genus Begomovirus) constitute a serious constraint to tropical and sub-tropical agro-ecosystems worldwide. In recent years, they have also introduced in temperate regions of the world where they have great impact and are posing a serious threat to a variety of greenhouse crops. Begomoviral diseases can in extreme cases reduce yields to zero leading to catastrophic losses in agriculture. They are still evolving and pose a serious threat to sustainable agriculture across the world, particularly in tropics and sub-tropics. Till recently, there have been no records on the occurrence of begomoviral disease in South Korea, however, the etiology of other plant viral diseases are known since last century. The first begomovirus infected sample was collected from sweet potato plant in 2003 and since then there has been gradual increase in the begomoviral epidemics specially in tomato and sweet potato crops. So far, 48 begomovirus sequences originating from various plant species have been submitted in public sequence data base from different parts of the country. The rapid emergence of begomoviral epidemics might be with some of the factors like evolution of new variants of the viruses, appearance of efficient vectors, changing cropping systems, introduction of susceptible plant varieties, increase in global trade in agricultural products, intercontinental transportation networks, and changes in global climatic conditions. Another concern might be the emergence of a begomovirus complex and satellite DNA molecules. Thorough understanding of the pathosystems is needed for the designing of effective managements. Efforts should also be made towards the integration of the resistant genes for the development of transgenic plants specially tomato and sweet potato as they have been found to be widely infected in South Korea. There should be efficient surveillance for emergence or incursions of other begomoviruses and biotypes of whitefly. This review discusses the general characteristics of begomoviruses, transmission by their vector B. tabaci with an especial emphasis on the occurrence and distribution of begomoviruses in South Korea, and control measures that must be addressed in order to develop more sustainable management strategies.

Identification of MC1R gene variants of Hanwoo and Holstein meat using PCR-RFLP (PCR-RFLP를 이용한 한우와 젖소고기의 MC1R 유전자변이 검출)

  • Koh Ba-Ra-Da;Kim Yong-Hwan;Park Seong-Do;Na Ho-Myung;Kim Jeong-Nam;Sung Chang-Min;Lee Sam-Soo
    • Korean Journal of Veterinary Service
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    • v.28 no.3
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    • pp.259-265
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    • 2005
  • The melanocortin 1 receptor (MC1R) encoded by the coat color extension gene (E) plays a key role in the signaling pathway of melanin synthesis. The primers for the amplification of bovine MC1R gene were designed based on a bovine MC1R gene sequence (GenBank accession no. Y19103). A size of 483bp (482bp for Hanwoo) was amplified by PCR, digested with Hpa II restriction enzyme and electrophoresed in $1.5\%$ agarose gel. When the amplified DNA product (483 bp) was digested with Hpa II restriction enzyme, Hanwoo meat showed a single band of 482bp, whereas two fragments of 325bp and 158bp were detected in Holstein, Angus and meat of Hanwoo / Holstein cross cow having back coat color phenotype, respectively. The results of this experiment Indicate that new designed primers of bovine MCIR gene may be useful for identification of Hanwoo meat from Holstein, Black Angus and Hanwoo / Holstein cross cow meat.

Research on Malware Classification with Network Activity for Classification and Attack Prediction of Attack Groups (공격그룹 분류 및 예측을 위한 네트워크 행위기반 악성코드 분류에 관한 연구)

  • Lim, Hyo-young;Kim, Wan-ju;Noh, Hong-jun;Lim, Jae-sung
    • The Journal of Korean Institute of Communications and Information Sciences
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    • v.42 no.1
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    • pp.193-204
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    • 2017
  • The security of Internet systems critically depends on the capability to keep anti-virus (AV) software up-to-date and maintain high detection accuracy against new malware. However, malware variants evolve so quickly they cannot be detected by conventional signature-based detection. In this paper, we proposed a malware classification method based on sequence patterns generated from the network flow of malware samples. We evaluated our method with 766 malware samples and obtained a classification accuracy of approximately 40.4%. In this study, malicious codes were classified only by network behavior of malicious codes, excluding codes and other characteristics. Therefore, this study is expected to be further developed in the future. Also, we can predict the attack groups and additional attacks can be prevented.

An Outbreak of Gregarious Nymphs of Locusta migratoria (Orthoptera: Acrididae) in Korea and Their Genetic Lineage Based on mtDNA COI Sequences (한국에서 군집형 풀무치의 대발생과 그 집단의 유전적 계통)

  • Lee, Gwan Seok;Kim, Kwang Ho;Kim, Chang Seok;Lee, Wonhoon
    • Korean journal of applied entomology
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    • v.55 no.4
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    • pp.523-528
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    • 2016
  • The migratory locust Locusta migratoria, one of the world's most notorious insect pests, has polyphenic (gregarious or solitarious) characteristics. Although this species is known to have several morphological variants, it is genetically divided into two different lineages using mitochondrial genome analysis: Southern (Africa, Southern Europe, Southern Asia, and Australia) and Northern (East Asia and the Eurasian continent). In 2014, a large number of orange black-colored gregarious L. migratoria nymphs suddenly appeared at Haenamgun, Jeollanamdo in the south of Korea. This is the first report of gregarious phase locusts occurring in Korea. In this study, mitochondrial COI sequences of one nymph and 11 adults of L. migratoria were analyzed to examine the genetic lineage of the gregarious nymphs of L. migratoria. Our results showed that all 12 individuals belong to the Northern linage and have low intraspecific genetic divergences (0.0% - 0.9%).

Molecular Variants of the $LH{\beta}$-subunit in Infertile Patients with Polycystic Ovary Syndrome (PCOS) in Korean Women (한국인의 다낭성 난포증후군 불임환자에서 황체형성 호르몬 유전자의 분자변이 연구)

  • Kim, Nam-Keun;Chung, Hyung-Min;Lee, Eu-Gene;Nam, Yoon-Sung;Choi, Dong-Hee;Sohn, Tae-Jong;Lee, Sook-Hwan;Ko, Jung-Jae;Cha, Kwang-Yul
    • Clinical and Experimental Reproductive Medicine
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    • v.27 no.2
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    • pp.173-177
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    • 2000
  • 연구목적: 한국여성의 다낭성 난포증후군 환자에서 황체형성 호르몬 exon 2 유전자의 변이를 탐색하여 이들 변이와 질환과의 관련성 여부를 밝히고자 하였다. 연구재료 및 방법: 21명의 다낭성 난포증후군 환자를 대상으로 황체형성 호르몬 exon 2(Trp8Arg;TGG to CGG and Ile15Thr; ATC to ACC)의 변이를 탐색하였다. 혈액에서 Genomic DNA를 추출하여 PCR로 증폭한 후 RFLP 방법으로 변이형을 구분하였다. 결과: 황체형성 호르몬 exon 2의 변이형이 다낭성 난포증후군 환자에서 28.6%로 이미 조사된 바 있는 대조군의 16.7% 보다 약간 높게 나타났으나 통계적으로 유의한 차이는 없었다(p>0.05). 결론: 황체형성 호르몬 exon 2의 변이가 한국인의 다낭성 난포증후군 발병과 관련이 있는지를 밝히기 위해 더 많은 개체에 대한 연구가 요구된다.

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Genomic Features of Retroelements and Implications for Human Disease

  • Kim, Heui-Soo
    • Genomics & Informatics
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    • v.3 no.4
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    • pp.133-141
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    • 2005
  • Most of the endogenous retroviral genes integrated into the primate genome after the split of New World monkeys in the Oligocene era, approximately 33 million years ago. Because they can change the structure of adjacent genes and move between and within chromosomes they may play important roles in evolutionas well as in many kinds of disease and the creation of genetic polymorphism. Comparative analysis of HERVs (human endogenous retroviruses) and their LTR (long terminal repeat) elements in the primate genomes will help us to understand the possible impact of HERV elements in the evolution and phylogeny of primates. For example, HERV-K LTR and SINE-R elements have been identified that have been subject to recent change in the course of primate evolution. They are specific elements to the human genome and could be related to biological function. The HERV-M element is related to the superfamily of HERV-K and is integrated into the periphilin gene as the truncated form, 5'LTR-gag-pol-3'LTR. PCR and RT-PCR approaches indicated that the insertion of various retrotransposable elements in a common ancestor genome may make different transcript variants in different primate species. Examination of the HERV-W elementrevealed that env fragments were detected on human chromosomes 1, 3-7, 12, 14, 17, 20, and X, whilst the pol fragments were detected on human chromosomes 2-8, 10-15, 20, 21, X, and Y. Bioinformatic blast search showed that almost full-length of the HERV-W family was identified on human chromosomes 1-8, 11-15, 17, 18, 21, and X. Expression analysis of HERV-W genes (gag, pol, and env) in human tissues by RT-PCR indicated that gag and pol were expressed in specific tissues, whilst env was constituitively expressed in all tissues examined. DNA sequence based phylogenetic analysis indicated that the gag, pol and env genes have evolved independently during primate evolution. It will thus be of considerable interest to expand the current HERV gene information of various primates and disease tissues.