• Title/Summary/Keyword: Genetic test

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Genetic association tests when a nuisance parameter is not identifiable under no association

  • Kim, Wonkuk;Kim, Yeong-Hwa
    • Communications for Statistical Applications and Methods
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    • v.24 no.6
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    • pp.663-671
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    • 2017
  • Some genetic association tests include an unidentifiable nuisance parameter under the null hypothesis of no association. When the mode of inheritance (MOI) is not specified in a case-control design, the Cochran-Armitage (CA) trend test contains an unidentifiable nuisance parameter. The transmission disequilibrium test (TDT) in a family-based association study that includes the unaffected also contains an unidentifiable nuisance parameter. The hypothesis tests that include an unidentifiable nuisance parameter are typically performed by taking a supremum of the CA tests or TDT over reasonable values of the parameter. The p-values of the supremum test statistics cannot be obtained by a normal or chi-square distribution. A common method is to use a Davies's upper bound of the p-value instead of an exact asymptotic p-value. In this paper, we provide a unified sine-cosine process expression of the CA trend test that does not specify the MOI and the TDT that includes the unaffected. We also present a closed form expression of the exact asymptotic formulas to calculate the p-values of the supremum tests when the score function can be written as a linear form in an unidentifiable parameter. We illustrate how to use the derived formulas using a pharmacogenetics case-control dataset and an attention deficit hyperactivity disorder family-based example.

Maternal and Direct Genetic Parameters for Production Traits and Maternal Correlations among Production and Feed Efficiency Traits in Duroc Pigs

  • Hoque, M.A.;Kadowaki, H.;Shibata, T.;Suzuki, K.
    • Asian-Australasian Journal of Animal Sciences
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    • v.21 no.7
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    • pp.961-966
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    • 2008
  • Direct and maternal genetic parameters for production traits in 1,642 pigs and maternal genetic correlations among production (1,642 pigs) and feed efficiency (380 boars) traits were estimated in 7 generations of a Duroc population. Traits studied were daily gain (DG), intramuscular fat (IMF), loineye area (LEA), backfat thickness (BF), daily feed intake (FI), feed conversion ratio (FCR) and residual feed intake (RFI). The RFI was calculated as the difference between actual and predicted feed intake. The predicted feed intake was estimated by adjusting the initial test weight, DG and BF. Data for production traits were analyzed using four alternative animal models (including direct, direct+maternal permanent environmental, or direct+maternal genetic+maternal permanent environmental effects). Direct heritability estimates from the model including direct and all maternal effects were $0.41{\pm}0.04$ for DG, $0.27{\pm}0.04$ for IMF, $0.52{\pm}0.06$ for LEA and $0.64{\pm}0.04$ for BF. Estimated maternal heritabilities ranged from $0.04{\pm}0.04$ to $0.15{\pm}0.05$ for production traits. Antagonistic relationships were observed between direct and maternal genetic effects ($r_{am}$) for LEA (-0.21). Maternal genetic correlations of feed efficiency traits with FI ($r_g$ of FI with FCR and RFI were $0.73{\pm}0.06$ and $0.90{\pm}0.05$, respectively) and LEA (rg of LEA with FCR and RFI were $-0.48{\pm}0.05$ to $-0.61{\pm}0.05$, respectively) were favorable. The estimated moderate genetic correlations between direct and maternal genetic effects for IMF and LEA indicated that maternal effects has an important role in these traits, and should be accounted for in the genetic evaluation system.

Genetic Parameters for Milk Yield and Lactation Persistency Using Random Regression Models in Girolando Cattle

  • Canaza-Cayo, Ali William;Lopes, Paulo Savio;da Silva, Marcos Vinicius Gualberto Barbosa;de Almeida Torres, Robledo;Martins, Marta Fonseca;Arbex, Wagner Antonio;Cobuci, Jaime Araujo
    • Asian-Australasian Journal of Animal Sciences
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    • v.28 no.10
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    • pp.1407-1418
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    • 2015
  • A total of 32,817 test-day milk yield (TDMY) records of the first lactation of 4,056 Girolando cows daughters of 276 sires, collected from 118 herds between 2000 and 2011 were utilized to estimate the genetic parameters for TDMY via random regression models (RRM) using Legendre's polynomial functions whose orders varied from 3 to 5. In addition, nine measures of persistency in milk yield ($PS_i$) and the genetic trend of 305-day milk yield (305MY) were evaluated. The fit quality criteria used indicated RRM employing the Legendre's polynomial of orders 3 and 5 for fitting the genetic additive and permanent environment effects, respectively, as the best model. The heritability and genetic correlation for TDMY throughout the lactation, obtained with the best model, varied from 0.18 to 0.23 and from -0.03 to 1.00, respectively. The heritability and genetic correlation for persistency and 305MY varied from 0.10 to 0.33 and from -0.98 to 1.00, respectively. The use of $PS_7$ would be the most suitable option for the evaluation of Girolando cattle. The estimated breeding values for 305MY of sires and cows showed significant and positive genetic trends. Thus, the use of selection indices would be indicated in the genetic evaluation of Girolando cattle for both traits.

Genetic diversity and structure of natural populations of Picea jezoensis in South Korea

  • Lee, Seok Woo;Yang, Byeong Hoon;Hur, Seong Doo;Lee, Jung Joo;Song, Jeong Ho;Moriguchi, Yoshinari
    • Journal of Korean Society of Forest Science
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    • v.97 no.2
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    • pp.187-195
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    • 2008
  • Picea jezoensis (Sieb. et Zucc.) Carriere is one of the major and widespread components of the cold-temperate and boreal forests in Russian Far East, northeast China, Korea, and Japan. However, it is restricted to a highly fragmented range in South Korea with small populations. Mean expected heterozygosity $(H_e)$ based on 22 loci in 11 isozyme systems was 0.077 for four sampled populations that covered the whole distribution range of P. jezoensis in South Korea. This value is within the range reported for conifers, but it is very low compared to that of other spruce species as well as that of P. jezoensis populations in Russian Far East. Most populations had a slight excess of heterozygotes and the Wright's $F_{IS}$ (-0.019) was comparable to that previously reported for other spruce species. In all of the four populations, the Wilcoxon sign-rank test indicated no greater heterozygosity than that expected for populations at mutation-drift equilibrium, suggesting that the populations have not been bottlenecked recently. Despite a fragmented range and isolated populations, population differentiation was not high $(F_{ST}=0.047)$ and the number of migrants per generation was 5.09. Nei's genetic distances were also small $({\bar{D}}=0.005)$ but strongly related to geographic distances between populations, suggesting an Isolation by Distance. The northernmost isolate, Mt. Gyebang population was genetically distinct from the other three populations. Implications for the conservation of genetic variation of P. jezoensis in South Korea were discussed.

Genetic parameter estimation for milk β-hydroxybutyrate and acetone in early lactation and its association with fat to protein ratio and energy balance in Korean Holstein cattle

  • Ranaraja, Umanthi;Cho, KwangHyun;Park, MiNa;Kim, SiDong;Lee, SeokHyun;Do, ChangHee
    • Asian-Australasian Journal of Animal Sciences
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    • v.31 no.6
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    • pp.798-803
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    • 2018
  • Objective: The objective of this study was to estimate the genetic parameters for milk ${\beta}$-hydroxybutyrate (BHBA), acetone (Ac), fat protein ratio (FPR), and energy balance (EB) using milk test day records and investigate the effect of early lactation FPR and EB on milk ketone body concentrations. Methods: Total 262,940 test-day records collected from Korea Animal Improvement Association during the period of 2012 to 2016 were used in this study. BHBA and Ac concentrations in milk were measured by Fourier transform infrared spectroscopy (FTIR). FPR values were obtained using test day records of fat and protein percentage. EB was calculated using previously developed equation based on parity, lactation week, and milk composition data. Genetic parameters were estimated by restricted maximum likelihood procedure based on repeatability model using Wombat program. Results: Elevated milk BHBA and Ac concentrations were observed during the early lactation under the negative energy balance. Milk FPR tends to decrease with the decreasing ketone body concentrations. Heritability estimates for milk BHBA, Ac, EB, and FPR ranged from 0.09 to 0.14, 0.23 to 0.31, 0.19 to 0.52, and 0.16 to 0.42 respectively at parity 1, 2, 3, and 4. The overall heritability for BHBA, Ac, EB and FPR were 0.29, 0.32, 0.58, and 0.38 respectively. A common pattern was observed in heritability of EB and FPR along with parities. Conclusion: FPR and EB can be suggested as potential predictors for risk of hyperketonemia. The heritability estimates of milk BHBA, Ac, EB, and FPR indicate that the selective breeding may contribute to maintaining the milk ketone bodies at optimum level during early lactation.

A Study on Correlation between Height Growth, Obesity and Bone maturity in Childhood (소아기에 있어 키성장과 비만도, 골성숙도와의 상관성 연구)

  • CHoi, Sang Rak;Kim, Yun Young;Jang, Eun Jin;Koo, Jin Suk
    • The Journal of Korean Medicine
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    • v.40 no.1
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    • pp.24-33
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    • 2019
  • Objectives: The purpose of this study is to analyze the causes of short stature through a clinical review of factors related to childhood height growth. So we can find the way to meet the needs of the heightism which is widely spread among modern people. Methods: Among 160 patients who came to Andong B oriental clinic for the purpose of growth therapy, 112 children whose height was smaller than other normal children were analyzed. When the children first came to the clinic, we checked their height and weight. The parents' height was recorded through a questionnaire. The relationship between obesity index and height growth was examined through growth plate test and Inbody test. We want to identify the genetic factors related to parental factors based on the data of the parent height. Results: For short stature children, weight was often normal or low. When we examined the relationship between parental genetic factors and child growth, we found that they were more influenced by father's height rather than mother's. We investigated the correlation between skeletal maturity and the five viscera. There was no apparent correlation between skeletal maturity and the five viscera but we found that there was some degree of relevance. Conclusions: For short stature children, the weight was often normal or low and parental genetic factors were more influenced by father than by mother. In the case of bone maturity it did not show a direct correlation between the five viscera.

A Comparison of the Search Based Testing Algorithm with Metrics (메트릭에 따른 탐색 기반 테스팅 알고리즘 비교)

  • Choi, HyunJae;Chae, HeungSeok
    • Journal of KIISE
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    • v.43 no.4
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    • pp.480-488
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    • 2016
  • Search-Based Software Testing (SBST) is an effective technique for test data generation on large domain size. Although the performance of SBST seems to be affected by the structural characteristics of Software Under Test (SUT), studies for the comparison of SBST techniques considering structural characteristics are rare. In addition to the comparison study for SBST, we analyzed the best algorithm with different structural characteristics of SUT. For the generalization of experimental results, we automatically generated 19,800 SUTs by combining four metrics, which are expected to affect the performance of SBST. According to the experiment results, Genetic algorithm showed the best performance for SUTs with high complexity and test data evaluation with count ${\leq}20,000$. On the other hand, the genetic simulated annealing and the simulated annealing showed relatively better performance for SUTs with high complexity and test data evaluation with count ${\geq}50,000$. Genetic simulated annealing, simulated annealing and hill climbing showed better performance for SUTs with low complexity.

Erythrocyte Micronucleus Test of Pomace Schisandra chinensis Extracts Using ICR Mouse (ICR 마우스를 이용한 오미자박 추출물의 소핵 시험)

  • Seokho, Kim;Sun Youn, Kim;Young-Suk, Kim;Jong-Min, Lim;Bon-Hwa, Ku;Kyeong Tae, Kwak;Byeong Yeob, Jeon
    • Herbal Formula Science
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    • v.30 no.4
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    • pp.259-267
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    • 2022
  • Objectives : In this study, erythrocyte micronucleus test of pomace Schisandra chinensis extracts was conducted in order to up-cycling to a high value-added industry using by-products discarded in the production process of Schisandra chinensis products and active ingredients such as dibenzocyclooctadiene lignans in Schisandra chinensis. Methods : The micronucleus test was performed according to the 'OECD Guidelines'. Including the negative control group(0 mg/kg) and the positive control group(CPA 70 mg/kg), pomace Schisandra chinensis extracts were orally administered to ICR mouse at doses of 500, 1,000, and 2,000 mg/kg. After sacrificing the experimental animals bone marrow cells were collected and micronucleated polychromatic erythrocyte were counted. And genetic toxicity was confirmed according to the frequency of micronucleus. Results : As a result of the micronucleus test, there were no changes in body weight, clinical signs, or death in any group. But, a significant increase was observed in the frequency of micronucleated polychromatic erythrocyte among polychromatic erythrocytes in the positive control group administered with CPA compared to the negative control group(p<0.05). Whereas, no significant increase was observed in the group administered with pomace Schisandra chinensis extracts compared to the negative control group. Conclusions : Pomace Schisandra chinensis extracts did not induce micronucleus in bone marrow cells of ICR mouse up to a concentration of 2,000 mg/kg, and it was judged that no genetic toxicity was observed.

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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    • v.21 no.6
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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.

Identification of Yarrowia lipolytica Y103 and Its Degradability of Phenol and 4-Chlorophenol

  • Lee, Jeong-Soon;Kang, Eun-Jeong;Kim, Min-Ok;Lee, Dong-Hun;Bae, Kyung-Sook;Kim, Chi-Kyung
    • Journal of Microbiology and Biotechnology
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    • v.11 no.1
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    • pp.112-117
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    • 2001
  • A nonconventional yeast strain Y103 capable of degrading several aromatic hydrocarbons was isolated from the wastewater of the Yocheon industrial complex. The strain Y103 was identified as Yarrowia lipolytica on the basis of its unique dimorphic and biochemical characteristics as determined by a Biolog test. Y. lipolytica Y103 was found to degrade phenol and 4-chlorophenol to produce catechol. The catechol then will be further degraded to produce 2-hydroxymuconic semialdehyde via meta-cleavage. These results indicate that strain Y103 degrades 4-chlorophenol, phenol, and catechol through a consecutive reaction to produce 2-hydroxymuconic semialdehyde. The most active degradation of phenol by Y. lipolytica Y103 occurred with a 0.5 mM phenl concentration in an MM2 medium at $30^{\circ}C$ and pH 7.0.

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