• Journal of the Korean Statistical Society
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• v.3 no.2
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• pp.103-115
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• 1974

During the last few years there has been an interest in models for qualitative attributes, where complex signifies that affection may be caused in two or more ways [1-3]. These models have in common the prediction of variable recurrence risks among families with given parental phenotpes. Segregation analysis has covered only a few cases [4,5]. The present paper extends segregation analysis to three complex models under two mode of ascertainment.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.22
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• pp.9859-9863
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• 2014

Genetic epidemiological studies have shown that genetic susceptibility to esophageal cancer (EC) is an important cause of its high incidence within families in some areas of China. The purpose of this study was to obtain evidence of a genetic basis of EC in Xin-an and Xin-xiang counties in China. Familial aggregation and complex segregation analyses were performed of 79 EC families in these counties. The heritability of EC was examined using Falconer's method and complex segregation analysis was conducted with the SEGREG program in Statistical Analysis for Genetic Epidemiology (SAGE version 5.3.1). The results showed that the distribution of EC in families did not fit well into a binomial distribution. The heritability of EC among first-degree and second-degree relatives was $67.0{\pm}7.31%$ and $43.1%{\pm}9.80%$, respectively, and the summing up powered heritability was $53.2{\pm}6.74%$. The segregation ratio was 0.045. Complex segregation analysis showed that the genetic model of EC was additive. The current results provide evidence for an inherited propensity to EC in certain high-risk groups in China, and support efforts to identify the genes that confer susceptibility to this disease.

• Asian-Australasian Journal of Animal Sciences
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• v.18 no.8
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• pp.1088-1097
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• 2005

Main objectives of this study were to investigate accuracy, bias and power of linear and threshold model segregation analysis methods for detection of major genes in categorical traits in farm animals. Maximum Likelihood Linear Model (MLLM), Bayesian Linear Model (BALM) and Bayesian Threshold Model (BATM) were applied to simulated data on normal, categorical and binary scales as well as to disease data in pigs. Simulated data on the underlying normally distributed liability (NDL) were used to create categorical and binary data. MLLM method was applied to data on all scales (Normal, categorical and binary) and BATM method was developed and applied only to binary data. The MLLM analyses underestimated parameters for binary as well as categorical traits compared to normal traits; with the bias being very severe for binary traits. The accuracy of major gene and polygene parameter estimates was also very low for binary data compared with those for categorical data; the later gave results similar to normal data. When disease incidence (on binary scale) is close to 50%, segregation analysis has more accuracy and lesser bias, compared to diseases with rare incidences. NDL data were always better than categorical data. Under the MLLM method, the test statistics for categorical and binary data were consistently unusually very high (while the opposite is expected due to loss of information in categorical data), indicating high false discovery rates of major genes if linear models are applied to categorical traits. With Bayesian segregation analysis, 95% highest probability density regions of major gene variances were checked if they included the value of zero (boundary parameter); by nature of this difference between likelihood and Bayesian approaches, the Bayesian methods are likely to be more reliable for categorical data. The BATM segregation analysis of binary data also showed a significant advantage over MLLM in terms of higher accuracy. Based on the results, threshold models are recommended when the trait distributions are discontinuous. Further, segregation analysis could be used in an initial scan of the data for evidence of major genes before embarking on molecular genome mapping.

• Journal of the Korean Statistical Society
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• v.6 no.2
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• pp.167-177
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• 1977

유전적 질환이 있는 가계에서 출생하는 자녀중에서 유전적인 질환을 보유할 수 있는 확률을 예측하는 방법의 하나로서 우도추정치(likelihood estimator)를 사용하는 것은 분리분석(segregation analysis)에서 중요한 역할을 하고 있다. Elston과 Stewart(1971)는 이러한 분석방법의 일반적인 통계모형을 정립하였으며 필자(1974)와 Morton 등 (1974)은 complex segregation이 될 때에 분석되는 4가지의 통계모형을 주장하였다. 본 연구의 목적은 multiple ascertainment $\pi$가 존재하는 경우 분리확률모수(segregation parameter) $\theta$의 우도추정치를 구하고 둘째로 oligogenic case에 대한 이론적인 배경을 구명하고자 한다.

• Proceedings of the Korean Society for Technology of Plasticity Conference
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• 2008.10a
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• pp.234-237
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• 2008

It was reported that the semi-solid forming process has many advantages over the conventional forming process, such as a long die life, good mechanical properties and energy savings. It is very important, however, to control liquid segregation to gain mechanical property improvement of materials. During forming process, Rheology material has complex characteristics, thixotropic behavior. Also, difference of velocity between solid and liquid in the semi-solid state material makes a liquid segregation and specific stress variation. Therefore, it is difficult for a numerical simulation of the rheology Process to be Performed. General Plastic or fluid dynamic analysis is not suitable for the behavior of rheology material. The behavior and stress of solid particle in the rheology material during forging process is affected by viscosity, temperature and solid fraction. In this study, compression experiments of aluminum alloy were performed under each other tool shape. In addition, the dynamics behavior compare with Okano equation to Power law model which is viscosity equation.

• Asian-Australasian Journal of Animal Sciences
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• v.24 no.3
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• pp.330-335
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• 2011

The mode of inheritance of total milk yield and its genetic parameters were investigated in Churra dairy sheep through segregation analyses using a Monte Carlo Markov Chains (MCMC) method. Data which consisted of 7,126 lactations belonging to 5,154 ewes were collected between 1999 and 2002 from 15 Spanish Churra dairy flocks. A postulated major gene was assumed to be additive and priors used for variance components were uniform. Based on 50 000 Gibbs samples from ten replicates chains of 100,000 cycles, the estimated marginal posterior means${\pm}$posterior standard deviations of variance components of milk yield were $23.17{\pm}18.42$, $65.20{\pm}25.05$, $120.40{\pm}42.12$ and $420.83{\pm}40.26$ for major gene variance ($\sigma_G^2$), polygenic variance ($\sigma_u^2$), permanent environmental variance ($\sigma_{pe}^2$) and error variance ($\sigma_e^2$), respectively. The results of this study showed the postulated major locus was not significant, and the 95% highest posterior density regions ($HPDs_{95%}$) of most major gene parameters included 0, and particularly for the major gene variance. The estimated transmission probabilities for the 95% highest posterior density regions ($HPDs_{95%}$) were overlapped. These results indicated that segregation of a major gene was unlikely and that the mode of inheritance of total milk yield in Churra dairy sheep is purely polygenic. Based on 50,000 Gibbs samples from ten replicates chains of 100,000 cycles, the estimated polygenic heritability and repeatability were $h^2=0.20{\pm}0.05$ and r=$0.34{\pm}0.06$, respectively.

• BMB Reports
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• v.52 no.10
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• pp.607-612
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• 2019

During meiosis, programmed double-strand breaks (DSBs) are repaired via recombination pathways that are required for faithful chromosomal segregation and genetic diversity. In meiotic progression, the non-homologous end joining (NHEJ) pathway is suppressed and instead meiotic recombination initiated by nucleolytic resection of DSB ends is the major pathway employed. This requires diverse recombinase proteins and regulatory factors involved in the formation of crossovers (COs) and non-crossovers (NCOs). In mitosis, spontaneous DSBs occurring at the G1 phase are predominantly repaired via NHEJ, mediating the joining of DNA ends. The Ku complex binds to these DSB ends, inhibiting additional DSB resection and mediating end joining with Dnl4, Lif1, and Nej1, which join the Ku complex and DSB ends. Here, we report the role of the Ku complex in DSB repair using a physical analysis of recombination in Saccharomyces cerevisiae during meiosis. We found that the Ku complex is not essential for meiotic progression, DSB formation, joint molecule formation, or CO/NCO formation during normal meiosis. Surprisingly, in the absence of the Ku complex and functional Mre11-Rad50-Xrs2 (MRX) complex, a large portion of meiotic DSBs was repaired via the recombination pathway to form COs and NCOs. Our data suggested that Ku complex prevents meiotic recombination in the elimination of MRX activity.

• Transactions of Materials Processing
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• v.18 no.1
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• pp.26-38
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• 2009

It was reported that the semi-solid forming process has many advantages over the conventional forming process, such as a long die life, good mechanical properties and energy savings. It is very important, however, to control liquid segregation to gain mechanical property improvement of materials. During forming process, rheology material has complex characteristics, thixotropic behavior. Also, difference of velocity between solid and liquid in the semi-solid state material makes a liquid segregation and specific stress variation. Therefore, it is difficult for a numerical simulation of the rheology process to be performed. General plastic or fluid dynamic analysis is not suitable for the behavior of rheology material. The behavior and stress of solid particle in the rheology material during forging process is affected by viscosity, temperature and solid fraction. In this study, compression experiments of aluminum alloy were performed under each other tool shape which is rectangle shape(square array), rectangle shape(hexagonal array), and free shape tool. In addition, the dynamics behavior compare with Okano equation to power law model which is viscosity equation.

• Journal of the Korean Regional Science Association
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• v.32 no.3
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• pp.17-27
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• 2016

In order to solve the problem of how to estimate the residential segregation, the Spatial Concentration Index(SCI) and Location quotient(LQ) are able to be one of alternative methods, and a comprehensive analysis of the residential segregation phenomenon in the seoul metropolitan area is the aim of the study. The results of SCI show that residential concentration areas in low-rent are some Gyeonggi-do's downtown(Bucheon-si, Suwon-si) as well as rural and urban-rural complex outskirts of the metropolitan area. The results of changing of SCI from 2011 to 2014, downward changes appeared thirteen districts and upward changes appeared fourteen districts. Especially downward change district was Sosa-gu, Bucheon-si and upward change district was Yeongtong-gu, Suwon-si. In conclusion, that high rent level groups are more concentration on specific area than low rent level groups. By decreasing residential concentration districts in low-rent level group, 'diversity' districts have been increasing in seoul metropolitan but the phenomenon of residential concentration in high and low level group have been being intensified. These results could be confirmed by quantitative through LQ. Methodologically LQ would strengthen the explanatory power of SCI, and ongoing research of SCI in conjunction with other quantitative methods will need.

• Journal of Ecology and Environment
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• v.41 no.8
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• pp.223-234
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• 2017

Background: Spatial structure of plants in a population reflects complex interactions of ecological and evolutionary processes. For dioecious plants, differences in reproduction cost between sexes and sizes might affect their spatial distribution. Abiotic heterogeneity may also affect adaptation activities, and result in a unique spatial structure of the population. Thus, we examined sex- and size-related spatial distributions of old-growth forest of dioecious tree Torreya nucifera in extremely heterogeneous Gotjawal terrain of Jeju Island, South Korea. Methods: We generated a database of location, sex, and size (DBH) of T. nucifera trees for each quadrat ($160{\times}300m$) in each of the three sites previously defined (quadrat A, B, C in Site I, II, and III, respectively). T. nucifera trees were categorized into eight groups based on sex (males vs. females), size (small vs. large trees), and sex by size (small vs. large males, and small vs. large females) for spatial point pattern analysis. Univariate and bivariate spatial analyses were conducted. Results: Univariate spatial analysis showed that spatial patterns of T. nucifera trees differed among the three quadrats. In quadrat A, individual trees showed random distribution at all scales regardless of sex and size groups. When assessing univariate patterns for sex by size groups in quadrat B, small males and small females were distributed randomly at all scales whereas large males and large females were clumped. All groups in quadrat C were clustered at short distances but the pattern changed as distance was increased. Bivariate spatial analyses testing the association between sex and size groups showed that spatial segregation occurred only in quadrat C. Males and females were spatially independent at all scales. However, after controlling for size, males and females were spatially separated. Conclusions: Diverse spatial patterns of T. nucifera trees across the three sites within the Torreya Forest imply that adaptive explanations are not sufficient for understanding spatial structure in this old-growth forest. If so, the role of Gotjawal terrain in terms of creating extremely diverse microhabitats and subsequently stochastic processes of survival and mortality of trees, both of which ultimately determine spatial patterns, needs to be further examined.