• Molecular & Cellular Toxicology
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• 제2권1호
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• pp.7-10
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• 2006

We performed comprehensive SNP validation and linkage disequilibrium (LD) analysis of the c-fos induced growth factor (Figf) gene in Korean population. Out of 32 SNPs, only 9 SNPs were polymorphic in Korean population. Validated SNPs formed a single extended haplotype block with strong LD through the entire length of the gene. Tagging SNP analysis picked only 2 SNPs to represent most of the genetic variation information of the Figf gene. Our results demonstrate the utility of LD block and tagging SNP analysis for an efficient way of performing a candidate gene based association study.

• Journal of Animal Science and Technology
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• 제57권12호
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• pp.47.1-47.10
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• 2015

Background: Knowledge of linkage disequilibrium (LD) levels among different populations can be used to detect genetic diversity and to investigate the historical changes in population sizes. Availability of large numbers of SNP through new sequencing technologies has provided opportunities for extensive researches in quantifying LD patterns in cattle breeds. The aim of this study was to compare the extent of linkage disequilibrium among Iranian cattle breeds using high density SNP genotyping data. Results: A total of 70 samples, representing seven Iranian indigenous cattle breeds, were genotyped for 777962 SNPs. The average values of LD based on the $r^2$ criterion were computed by grouping all syntenic SNP pairwises for intermarker distances from 0 Kb up to 1 Mb using three distance sets. Average $r^2$ above 0.3 was observed at distances less than 30 Kb for Sistani and Kermani, 20 Kb for Najdi, Taleshi, Kurdi and Sarabi, and 10 Kb for Mazandarani. The LD levels were considerably different among the Iranian cattle breeds and the difference in LD extent was more detectable between the studied breeds at longer distances. Lower level of LD was observed for Mazandarani breed as compared to other breeds indicating larger ancestral population size in this breed. Kermani breed continued to have more slowly LD decay than all of the other breeds after 3 Kb distances. More slowly LD decay was observed in Kurdi and Sarabi breeds at larger distances (>100 Kb) showing that population decline has been more intense in more recent generations for these populations. Conclusions: A wide genetic diversity and different historical background were well reflected in the LD levels among Iranian cattle breeds. More LD fluctuation was observed in the shorter distances (less than 10 Kb) in different cattle populations. Despite of the sample size effects, High LD levels found in this study were in accordance with the presence of inbreeding and population decline in Iranian cattle breeds.

• Asian-Australasian Journal of Animal Sciences
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• 제21권5호
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• pp.617-623
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• 2008

A fine-mapping method exploiting linkage disequilibrium was used to detect quantitative trait loci (QTL) on the X chromosome affecting milk production, body conformation and productivity traits. The pedigree comprised 22 paternal half-sib families of Black-and-White Holstein bulls in the Netherlands in a grand-daughter design for a total of 955 sons. Twenty-five microsatellite markers were genotyped to construct a linkage map on the chromosome X spanning 170 Haldane cM with an average inter-marker distance of 7.1 cM. A covariance matrix including elements about identical-by-descent probabilities between haplotypes regarding QTL allele effects was incorporated into the animal model, and a restricted maximum-likelihood method was applied for the presence of QTL using the LDVCM program. Significance thresholds were obtained by permuting haplotypes to phenotypes and by using a false discovery rate procedure. Seven QTL responsible for conformation types (teat length, rump width, rear leg set, angularity and fore udder attachment), behavior (temperament) and a mixture of production and health (durable prestation) were detected at the suggestive level. Some QTL affecting teat length, rump width, durable prestation and rear leg set had small numbers of haplotype clusters, which may indicate good classification of alleles for causal genes or markers that are tightly associated with the causal mutation. However, higher maker density is required to better refine the QTL position and to better characterize functionally distinct haplotypes which will provide information to find causal genes for the traits.

• Genomics & Informatics
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• 제5권2호
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• pp.61-67
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• 2007

The allele frequencies of markers as well as linkage disequilibrium (LD) can be changed in cases due to the LD between markers and the disease allele, exhibiting spurious associations of markers. To identify the true association, classical statistical tests for dealing with confounders have been applied to draw a conclusion as to whether the association of variants comes from LD with the known disease allele. However, a more direct test considering LD using estimated haplotype frequencies may be more efficient. The null hypothesis is that the different allele frequencies of a variant between cases and controls come solely from the increased disease allele frequency and the LD relationship with the disease allele. The haplotype frequencies of controls are estimated using the expectation maximization (EM) algorithm from the genotype data. The estimated frequencies are applied to calculate the expected haplotype frequencies in cases corresponding to the increase or decrease of the causative or protective alleles. The suggested method was applied to previously published data, and several APOE variants showed association with Alzheimer's disease independent from the APOE ${\varepsilon}4$ variant, rs429358, regardless of LD showing significant simulated p-values. The test results support the possibility that there may be more than one common disease variant in a locus.

• Asian-Australasian Journal of Animal Sciences
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• 제24권4호
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• pp.457-462
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• 2011

The purpose of this study was to detect QTL for carcass quality on bovine chromosome (BTA) 6 using a high density SNP map in a Hanwoo population. The data set comprised 45 sires and their 427 Hanwoo steers that were born between spring of 2005 and fall of 2007. The steers that were used for progeny testing in the Hanwoo Improvement Center in Seosan, Korea, were genotyped with the 2,535SNPs on BTA6 that were embedded in the Illumina bovine SNP 50K chip. Four different linkage disequilibrium (LD) mapping models were applied to detect significant SNPs for carcass quality traits; the fixed model with a single marker, the random model with a single marker, the random model with haplotype effects using two adjacent markers, and the random model at hidden state. A total of twelve QTL were detected, for which four, one, three and four SNPs were detected on BTA6 under the respective models (p<0.001). Among the detected QTL, four, two, five and one QTL were associated with carcass weight, backfat thickness, longissimus dorsi muscle area, and marbling score, respectively (p<0.001). Our results suggest that the use of multiple LD mapping approaches may be beneficial in increasing power to detect QTL given a limited sample size and magnitude of QTL effect.

• 응용통계연구
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• 제16권2호
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• pp.195-202
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• 2003

복합성유전질환 연구에 있어서 단일염기변이를 이용한 일배체형 분석은 개별적인 단일염기변이 분석에 비하여 비용 및 효율 면에서 훨씬 유용하며, 생물학적으로도 기능적 중요성을 갖는 것으로 평가되고 있다. 그러나 일반적인 유전형분석방법을 이용한 단일염기변이군 자료는 이배체형(diploid)으로서 위상(phase)을 확인할 수 없으므로 일배체형 비율을 예측하기 어렵다. 본 연구에서는 고형종양 환자군과 정상군의 단일염기변이군 이배체형 자료가 주어졌을 때 단일염기변이군 일배체형 비율의 우도함수에 EM알고리듬을 적용하여 각 일배체형의 비율을 추정하였다. 이로부터 단일염기변이간의 연관불균형(linkage disequilibrium)을 분석하여 고형 종양과 연관 가능성이 있는 단일염기변이를 살펴보았다.

• Journal of Electrical Engineering and Technology
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• 제9권2호
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• pp.576-588
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• 2014

The superiority of CMI (Cascaded Multilevel Inverter) is unparalleled in high power and high voltage STATCOM (Static Synchronous Compensator). However, the parameters and operating conditions of each individual power unit composing the cascaded STATCOM differ from unit to unit, causing unit voltage disequilibrium on the DC side. This phenomenon seriously impairs the operation performance of STATCOM, and thus maintaining the DC voltage balance and stability becomes critical for cascaded STATCOM. This paper analyzes the case of voltage disequilibrium, combines the operation characteristics of the cascaded STATCOM, and proposes a new DC voltage control scheme with the advantages of good control performance and stability. This hierarchical control method uses software to achieve the total active power control and also uses chopper controllers to enable that the imbalance power can flow among the capacitors in order to keep DC capacitor voltages balance. The operating principle of the chopper controllers is analyzed and the implementation is presented. The major advantages of the proposed control strategy are that the number of PI regulators has been decreased remarkably and accordingly the blindness of system design and debugging also reduces obviously. The simulation reveals that the proposed control scheme can achieve the satisfactory control goals.

• International Journal of Industrial Entomology and Biomaterials
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• 제20권2호
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• pp.37-43
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• 2010

The wild silkworm, Antheraea mylitta Drury (Lepidoptera: Saturniidae) is a polyphagous silk producing insect that feeds on Terminalia arjuna, T. tomentosa and Shorea robusta and is distributed in the forest belts in different states of India. Phenotypically distinct populations of the A. mylitta are called "eco-race" or "ecotypes". Genetic improvement of this wild silkworm has not progressed much due to lack of adequate information on the factors that control the expression of most of the economically important traits. Considering the amazing technological advances taking place in molecular biology, it is envisaged that it is now possible to take greater control on these intractable traits if a combination of genetic, molecular and bioinformatics tools are used. Linkage disequilibrium (LD) mapping is one such approach that has extensively been used in both animal and plant system to identify quantitative trait loci (QTLs) for a number of economically important traits. LD mapping has a number of advantages over conventional biparental linkage mapping. Therefore, LD mapping is considered more efficient for gene discovery to meet the challenge of connecting sequence diversity with heritable phenotypic differences. However, care must be taken to avoid detection of spurious associations which may occur due to population structure and variety interrelationships. In this review, we discuss how LD mapping is suitable for the dissection of complex traits in wild silkworms (Antheraea mylitta).

• Journal of applied mathematics & informatics
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• 제26권3_4호
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• pp.493-500
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• 2008

In this paper, we first construct a mathematical model for tagSNP selection based on LD measure $r^2$, then aiming at this kind of model, we develop an efficient algorithm, which is called approximate greedy algorithm. This algorithm is able to make up the disadvantage of the greedy algorithm for tagSNP selection. The key improvement of our approximate algorithm over greedy algorithm lies in that it adds local replacement(or local search) into the greedy search, tagSNP is replaced with the other SNP having greater similarity degree with it, and the local replacement is performed several times for a tagSNP so that it can improve the tagSNP set of the local precinct, thereby improve tagSNP set of whole precinct. The computational results prove that our approximate greedy algorithm can always find more efficient solutions than greedy algorithm, and improve the tagSNP set of whole precinct indeed.

• Asian-Australasian Journal of Animal Sciences
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• 제24권12호
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• pp.1660-1665
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• 2011

This study presents a linkage disequilibrium (LD) analysis and effective population size ($N_e$) for the entire Hanwoo Korean cattle genome, which is the first LD map and effective population size estimate ever calculated for this breed. A panel of 4,525 markers was used in the final LD analysis. The pairwise $r^2$ statistic of SNPs up to 50 Mb apart across the genome was estimated. A mean value of $r^2$ = 0.23 was observed in pairwise distances of <25 kb and dropped to 0.1 at 40 to 60 kb, which is similar to the average intermarker distance used in this study. The proportion of SNPs in useful LD ($r^2{\geq}0.25$) was 20% for the distance of 10 and 20 kb between SNPs. Analyses of past effective population size estimates based on direct estimates of recombination rates from SNP data demonstrated that a decline in effective population size to $N_e$ = 98.1 occurred up to three generations ago.