• Title/Summary/Keyword: Genetic association study

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Study on Genetic Diversity of Six Duck Populations with Microsatellite DNA

  • Wu, Yan;Liu, Xiao-Lin;Hou, Shui-Sheng;Huang, Wei
    • Asian-Australasian Journal of Animal Sciences
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    • 제21권6호
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    • pp.776-783
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    • 2008
  • In this study, we investigated the genetic diversity and phylogenetic relationship of six duck populations by employing the genetic polymorphisms of 20 microsatellites. The parameters used in this study included number of alleles, average effective numbers of alleles (E) and average rates of heterozygosity of each population. The results showed that all the microsatellite loci were highly polymorphic except that the locus AJ515896 in Muscovy duck was 0. The average PIC (0.762), average h (0.7843) and average E (5.261) of the six duck populations were all high, indicating that the gene polymorphisms and genetic diversity were high. The test of Hardy-Weinberg equilibrium showed that the six populations in this study were all in Hardy-Weinberg disequilibrium. The F-statistic analysis results showed the range of FST was from 0.0205 (AJ515895) to 0.2558 (AJ515896). The mean FST was 0.0936. Phylogenetic study revealed that Peking duck (Z1 and Z4), Shaoxing duck, Cherry Valley duck and Aobaixing duck were clustered in one group, while the Muscovy duck was clustered in one group alone. The phylogenetic relationships among different populations were in accordance with their breeding history and distribution. Our data suggested that the 20 microsatellite loci were effective markers for analysis of genetic relationships among duck populations.

Genetic Parameter Estimates for Ultrasonic Meat Qualities in Hanwoo Cows

  • Lee, D.H.;Choudhary, V.;Lee, G.H.
    • Asian-Australasian Journal of Animal Sciences
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    • 제19권4호
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    • pp.468-474
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    • 2006
  • Real time ultrasound data was generated on 10,596 live Hanwoo cows to study genetic variation on ultrasonic beef quality traits and to assess the best model to estimate genetic parameters on these traits. Pedigree stacking and data validation was done using the SAS statistical software and the genetic parameter estimates were obtained by EM-REML algorithm. Out of the five different multi-trait mixed animal models constructed, the optimal model included fixed effects of herd, year-season-appraisal, body condition score, linear and quadratic covariates for chest girth, the linear covariate effect of age and the random animal and residual effect of the five models studied. The heritability of longissimus muscle area (LMA), $12^{th}$ rib measurement of back fat thickness (BF) and marbling score (MS) was 0.11, 0.17 and 0.15, respectively. Genetic correlation of LMA vs. BF, LMA vs. MS and BF vs. MS was -0.15, 0.06 and 0.61, respectively. The results showed presence of genetic variation in these ultrasonic beef quality traits in Hanwoo cows and suggest that the selection of Hanwoo cows may be possible by performing ultrasonic scans on live animals, which will ultimately be helpful in reducing the generation interval and the cost of selection procedure.

회로 분할을 위한 어댑티드 유전자 알고리즘 연구 (A Study of Adapted Genetic Algorithm for Circuit Partitioning)

  • 송호정;김현기
    • 한국콘텐츠학회논문지
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    • 제21권7호
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    • pp.164-170
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    • 2021
  • VLSI 설계에서의 분할(partitioning)은 기능의 최적화를 위하여 설계하고자 하는 회로의 그룹화(grouping)하는 단계로서 레이아웃(layout)에서 면적과 전파지연의 최소화를 위해 함께 배치할 소자를 결정하는 문제이다. 이러한 분할 문제에서 해를 얻기 위해 사용되는 알고리즘은 Kernighan-Lin 알고리즘, Fiduccia Mattheyses heuristic, 시뮬레이티드 어닐링, 유전자 알고리즘 등의 방식이 이용된다. 본 논문에서는 회로 분할 문제에 대하여 유전자 알고리즘과 확률 진화 알고리즘을 결합한 어댑티드 유전자 알고리즘을 이용한 해 공간 탐색(solution space search) 방식을 제안하였으며, 제안한 방식을 유전자 알고리즘 및 시뮬레이티드 어닐링 방식과 비교, 분석하였고, 어댑티드 유전자 알고리즘이 시뮬레이티드 어닐링 및 유전자 알고리즘보다 더 효과적으로 최적해에 근접하는 것을 알 수 있었다.

A bioinformatic approach to identify pathogenic variants for Stevens-Johnson syndrome

  • Muhammad Ma'ruf;Justitia Cahyani Fadli;Muhammad Reza Mahendra;Lalu Muhammad Irham;Nanik Sulistyani;Wirawan Adikusuma;Rockie Chong;Abdi Wira Septama
    • Genomics & Informatics
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    • 제21권2호
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    • pp.26.1-26.9
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    • 2023
  • Stevens-Johnson syndrome (SJS) produces a severe hypersensitivity reaction caused by Herpes simplex virus or mycoplasma infection, vaccination, systemic disease, or other agents. Several studies have investigated the genetic susceptibility involved in SJS. To provide further genetic insights into the pathogenesis of SJS, this study prioritized high-impact, SJS-associated pathogenic variants through integrating bioinformatic and population genetic data. First, we identified SJS-associated single nucleotide polymorphisms from the genome-wide association studies catalog, followed by genome annotation with HaploReg and variant validation with Ensembl. Subsequently, expression quantitative trait locus (eQTL) from GTEx identified human genetic variants with differential gene expression across human tissues. Our results indicate that two variants, namely rs2074494 and rs5010528, which are encoded by the HLA-C (human leukocyte antigen C) gene, were found to be differentially expressed in skin. The allele frequencies for rs2074494 and rs5010528 also appear to significantly differ across continents. We highlight the utility of these population-specific HLA-C genetic variants for genetic association studies, and aid in early prognosis and disease treatment of SJS.

Association of Genetic Polymorphism of IL-2 Receptor Subunit and Tuberculosis Case

  • Lee, Sang-In;Jin, Hyun-Seok;Park, Sangjung
    • 대한의생명과학회지
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    • 제24권2호
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    • pp.94-101
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    • 2018
  • Tuberculosis (TB) is infectious disease caused by Mycobacterium tuberculosis (MTB) infection. It is known that not only the property of microorganism but also the genetic susceptibility of infected patients is controlled. Interleukin 2 (IL-2) is a cytokine belonging to type 1 T helper (Th1) activity. In addition, IL-2, when infected with MTB, binds IL-2 receptor and promotes T cell replication and is involved in granuloma formation. The aim of this study was to investigate the genetic polymorphisms of the IL-2 receptor gene in tuberculosis patients and normal individuals. We analyzed 22 SNPs in three genes using the genotype data of 443 tuberculosis cases and 3,228 healthy controls from the Korea Association Resource for their correlation with tuberculosis case. IL2RA, IL2RB, and IL2RG genes were genotyped of 16, 4, and 2 SNPs, respectively. Among three genes, only IL2RA gene polymorphisms showed statistically significant association with tuberculosis case. 6 SNPs with high significance were identified in the IL2RA gene. In addition, the linkage disequilibrium (LD) structure of IL2RA gene was confirmed. SNP imputation of IL2RA gene was performed, it was confirmed that more SNPs were significant between case and control. If we look at the results of IL2RA gene analysis above, we can see that genetic polymorphism in the gene expressing $IL-2R{\alpha}$ will regulate the expression level of $IL-2R{\alpha}$, and the change in the immune system involved in $IL-2R{\alpha}$. In this study, genetic polymorphism that may affect host immunity suggests that susceptibility to tuberculosis may be controlled.

Multilocus Genotyping to Study Population Structure in Three Buffalo Populations of India

  • Tantia, M.S.;Vijh, R.K.;Mishra, Bina;Kumar, S.T. Bharani;Arora, Reena
    • Asian-Australasian Journal of Animal Sciences
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    • 제19권8호
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    • pp.1071-1078
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    • 2006
  • Three buffalo populations viz. Bhadawari, Tarai and local buffaloes of Kerala were genotyped using 24 heterologous polymorphic microsatellite loci. A total of 140 alleles were observed with an average observed heterozygosity of 0.63. All the loci were neutral and 18 out of the 24 loci were in Hardy Weinberg Equilibrium. The $F_{IS}$ values (estimate of inbreeding) for 16 loci in all the three populations were negative. This indicated lack of population structure in the three populations. The effective number of immigrants was 5.88 per generation between the Tarai and Bhadawari populations which was quite high suggesting substantial gene flow. The genetic distances revealed closeness between the Tarai and Bhadawari populations which was expected from geographical contiguity. The FST values were not significantly different from zero showing no population differentiation. The Correspondence Analysis based on the allelic frequency data clustered the majority of the Tarai and Bhadawari individuals as an admixture.

Influence of Inbreeding Depression on Genetic (Co)Variance and Sire-by-Year Interaction Variance Estimates for Weaning Weight Direct-Maternal Genetic Evaluation

  • Lee, C.;Pollak, E.J.
    • Asian-Australasian Journal of Animal Sciences
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    • 제10권5호
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    • pp.510-513
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    • 1997
  • This study examined the effects of ignoring inbreeding depression on (co)variance components for weaning weight through the use of Monte Carlo simulation. Weaning weight is of particular interest as a trait for which additive direct and maternal genetic components exist and there then is the potential for a direct-maternal genetic covariance. Ignoring inbreeding depression in the analytical model (.8 kg reduction of phenotypic value per 1% inbreeding) led to biased estimates of all genetic (co) variance components, all estimates being larger than the true values of the parameters. In particular, a negative bias in the direct-maternal genetic covariance was observed in analyses that ignored inbreeding depression. A small spurious sire-by-year interaction variance was also observed.

유전독성시험에 의한 녹용약침의 안전성 연구 (Safety study on Genetic Toxicity of Cervi Pantotrichum Cornu Herbal acupuncture Solution(CPCHA))

  • 서부일;변부형
    • 대한본초학회지
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    • 제20권2호
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    • pp.1-6
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    • 2005
  • Objectives : The purpose of this study is to investigate genetic toxicity of Cervi pantotrichum Cornu herbal acupuncture solution(CPCHA). Methods : In this study, a series of investigation have been carried out to analyze the effects of Cervi pantotrichum Cornu herball acupuncture solution(CPCHA) on colony forming ability of NIH3T3cells, Hela cells and adrenorectal coloncell for genetic toxicity test. Results and Conclusions : From the above results, it is suggested that Cervi pantotrichum Cornu herball acupuncture solution(CPCHA) was limited 0.5-10ug/ml by test. Cervi pantotrichum Cornu herball acupuncture solution(CPCHA) did not exert the protective role to the genetic toxicity in kinds of cell lines used in this study. From these results, Cervi pantotrichum Cornu herbal aqua-acupuncture solution needs further study to prove it's function in cell culture system.

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고등학생들의 유전에 대한 오인의 확인 및 유전학 지도방향 (Identification of Misconception of Genetic Concepts Held by High School Students and Suggestions for Teaching Genetics)

  • 박종석;조희형
    • 한국과학교육학회지
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    • 제6권2호
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    • pp.35-42
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    • 1986
  • Recent studies on the learning of the science concepts indicate that most students have misconceptions of the science concepts. The misconceptions have their roots in the various aspects of teaching and learning situations. The textbooks used in schools have been substantiated as one of the sources of the misconceptions. Genetics has been recognized as one of the most difficult areas for high school students to learn. Therefore, this study had its objective to identify the misconceptions of genetics held by high school students and analyze the high school biology textbook as the source of the misconceptions. In order to indentify the misconceptions of the genetic concepts, the volunteer students were interviewed and genetic content and its sequence in the high school biology textbooks were analyzed. The misconceptions identified in this study are as follow: gamete formation, mitosis, trait expression, and allele and gene behavior in meiosis. This study found that the high school biology textbooks might be the source of those misconceptions. Based on the misconceptions identified, this study proposed direction for efficient instruction of genetics in high schools.

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Genetic characterization and population structure of six brown layer pure lines using microsatellite markers

  • Karsli, Taki;Balcioglu, Murat Soner
    • Asian-Australasian Journal of Animal Sciences
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    • 제32권1호
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    • pp.49-57
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    • 2019
  • Objective: The first stage in both breeding and programs for the conservation of genetic resources are the identification of genetic diversity in the relevant population. The aim of the present study is to identify genetic diversity of six brown layer pure chicken lines (Rhode Island Red [RIRI, RIRII], Barred Rock [BARI, BARII], Columbian Rock [COL], and line 54 [L-54]) with microsatellite markers. Furthermore, the study aims to employ its findings to discuss the possibilities for the conservation and sustainable use of these lines that have been bred as closed populations for a long time. Methods: In the present study, a total number of 180 samples belonging to RIRI (n = 30), RIRII (n = 30), BARI (n = 30), BARII (n = 30), L-54 (n = 30), and COL (n = 30) lines were genotyped using 22 microsatellite loci. Microsatellite markers are extremely useful tools in the identification of genetic diversity since they are distributed throughout the eukaryotic genome in multitudes, demonstrate co-dominant inheritance and they feature a high rate of polymorphism and repeatability. Results: In this study, we found all loci to be polymorphic and identified the average number of alleles per locus to be in the range between 4.41 (BARI) and 5.45 (RIRI); the observed heterozygosity to be in the range between 0.31 (RIRII) and 0.50 (BARII); and $F_{IS}$ (inbreeding coefficient) values in the range between 0.16 (L-54) and 0.46 (RIRII). The $F_{IS}$ values obtained in this context points out to a deviation from Hardy-Weinberg equilibrium due to heterozygote deficiency in six different populations. The Neighbour-Joining tree, Factorial Correspondence Analysis and STRUCTURE clustering analyzes showed that six brown layer lines were separated according to their genetic origins. Conclusion: The results obtained from the study indicate a medium level of genetic diversity, high level inbreeding in chicken lines and high level genetic differentiation between chicken lines.