• 응용통계연구
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• 제21권1호
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• pp.81-94
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• 2008

전달불균형 검정법(transmission and disequilibrium test)과 같은 가계중심(family-based) 검정법들은 질병 관련 유전자를 찾는 데 매우 유용한 방법으로 알려져 있다. 사례-대조군 연구와 달리 가계중심 검정법들은 집단혼합(population admixture)으로 인한 영향을 받지 않기 때문에 질병 관련 유전자와 표지자(marker) 사이의 집단 혼합으로 인한 가짜 연관성(spurious association)에 노출될 위험이 없다. 가계중심 검정법들은 대체로 표지자에 대한 부모의 유전자형(genotype) 정보를 필요로 한다. 그러나 고령층에서 발병하는 질병의 경우에는 발단자(proband) 부모의 유전자형을 구할 수 없는 상황에 종종 마주치게 된다. 본 논문에서는 이런 어려움을 극복하기 위해 부모의 유전자형 대신 질병에 노출되지 않은 발단자 형제나 자매의 유전자형을 이용한 검정법을 제안하고자 한다. 이를 위해 먼저 가능한 모든 일배체형(haplotype)에 대해 Mantel-Haenszel 형태의 통계량을 정의하고 그것에 기초한두 가지 검정통계량을 제안하였다. 모의실험 결과, 제안한 검정법은 집단 혼합으로부터 로버스트하고 유전 양식(mode of inheritance)에 관계 없이 상대위험(relative risk)이 증가함에 따라 단조적으로 증가하는 검정력을 갖는 것으로 나타났다. 제안한 검정법을 연세대학교 심혈관계질환 유전체연구센터로부터 수집한 자료에 적용하고 그 결과를 고찰하였다.

• 한국동물번식학회:학술대회논문집
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• 한국동물번식학회 2001년도 춘계학술발표대회
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• pp.48-48
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• 2001

A new neurological mutant has been found in the ICR outbred strain mouse. Affected mice display profound deafness and a head-tossing and bidirectional circling behavior, showing an autosomal recessive mode of inheritance. It was, therefore, named cir/Kr with the gene symbol cir. The auditory tests identified clearly the hearing loss of the cir mice when compared to wild type mice. Pathological studies confirmed the developmental defects in the middle ear, cochlea, cochlear nerve, and semicircular canal areas, which were correlated to the abnormal behavior observed in the cir mice. Thus, cir mice may be useful as a model for studying inner ear abnormalities and deafness. We have constructed a genetic linkage map by positioning 14 microsatellite markers across the (cir) region and intraspecific backcross between cir and C57BL/6J mice. The cir mouse harbors an autosomal recessive mutation on mouse chromosome 9. The cir gene was mapped to a region between D9Mit116 and D9Mit38 Estimated distances between cir and D9Mit116, and between cir and D9Mit38 are 0.7 and 0.2 cM, respectively. The gene in order was defines : centromere-D9Mit182-D9Mit51/D9Mit79/D9Mit310-D9Mit212/D9Mit184-D9Mit116-cir-D9Mit38-D9Mit20-D9Mit243-D9Mit16-D9Mit55/D9Mit125-D9Mit281. The mouse map location of the cir locus appears to be in a region homologous to human 3q21. Our present date suggest that the nearest flanking marker D9Mit38 provides a useful anchor for the isolation of the cir gene in a yeast artificial chromosome contig.

• Asian Pacific Journal of Cancer Prevention
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• 제16권6호
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• pp.2107-2117
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• 2015

Thyroid cancer is the most common endocrine neoplasia. The medullary thyroid carcinoma (MTC) is one of the most aggressive forms of thyroid malignancy,accounting for up to 10% of all types of this disease. The mode of inheritance of MTC is autosomal dominantly and gain of function mutations in the RET proto-oncogene are well known to contribute to its development. MTC occurs as hereditary (25%) and sporadic (75%) forms. Hereditary MTC has syndromic (multiple endocrine neoplasia type 2A, B; MEN2A, MEN2B) and non-syndromic (Familial MTC, FMTC) types. Over the last two decades, elucidation of the genetic basis of tumorigenesis has provided useful screening tools for affected families. Advances in genetic screening of the RET have enabled early detection of hereditary MTCs and prophylactic thyroidectomy for relatives who may not show any symptom sof the disease. In this review we emphasize the main RET mutations in syndromic and non syndromic forms of MTC, and focus on the importance of RET genetic screening for early diagnosis and management of MTC patients, based on American Thyroid Association guidelines and genotype-phenotype correlation.

• 한국작물학회지
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• 제33권s01호
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• pp.98-114
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• 1988

This study was conducted to investigate the status and prospects of seed quality researches in rapeseed. Rapeseed Quality was mainly related to oil and protein content, fatty acid composition and glucosinolate content. Hence, breeding for improvement of rapeseed Quality has been emphasized as follows: 1) inheritance mode, 2) investigation of germplasm, 3) establishment of analysis technique, 4) establishment of selection method, 5) idealization of cultural technique. The oil quality is determined by its fatty acids. Fatty acids have been determined by gas chromatography. To improve oil quality was emphasized for zero erucic acid, the highest possible linoleic acid and the lowest possible linolenic acid content. Rapeseed meal is not considered as top quality feed ingredient although it has higher protein content and well-balanced amino acid composition. This is mainly because of the presence of considerable amounts of glucosinolates. Thus the reduction of glucosinolate content in rapeseed meal is of great importance. In breeding for meal quality, low glucosinolate lines (plants) were selected and analyzed by gas chromatography and UV-spectrophotometer. Current problems and future researches of rapeseed quality in Korea are 1) improvement of researcher's number and facilities, 2) depression of animal feeding trials, 3) unsatisfied relationship between research and manufacturing and products field, 4) improvement of fertility for yellow and thin seed coat lines crossed between mustard and rapeseed, 5) establishment of new rapid analysing system for rapeseed quality.

• Asian-Australasian Journal of Animal Sciences
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• 제26권11호
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• pp.1536-1544
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• 2013

A least squares regression interval mapping model was derived to detect quantitative trait loci (QTL) with a unique mode of genomic imprinting, polar overdominance (POD), under a breed cross design model in outbred mammals. Tests to differentiate POD QTL from Mendelian, paternal or maternal expression QTL were also developed. To evaluate the power of the POD models and to determine the ability to differentiate POD from non-POD QTL, phenotypic data, marker data and a biallelic QTL were simulated on 512 F2 offspring. When tests for Mendelian versus parent-of-origin expression were performed, most POD QTL were classified as partially imprinted QTL. The application of the series of POD tests showed that more than 90% and 80% of medium and small POD QTL were declared as POD type. However, when breed-origin alleles were segregating in the grand parental breeds, the proportion of declared POD QTL decreased, which was more pronounced in a mating design with a small number of parents ($F_0$ and $F_1$). Non-POD QTL, i.e. with Mendelian or parent-of-origin expression (complete imprinting) inheritance, were well classified (>90%) as non-POD QTL, except for QTL with small effects and paternal or maternal expression in the design with a small number of parents, for which spurious POD QTL were declared.

• 한국정보처리학회논문지
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• 제2권4호
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• pp.567-580
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• 1995

전이중심 객체 지향 프로그래밍 시스템(Transition-based Object-oriented Programming System,(TOPS)은 다양한 병행 시스템의 신속한 개발에 적합한 상태 전이에 입각한 객체지향 시스템이다.TOPS는 상호 작용하는 구조적 능동 객체 (Structural Active Object,SAO)들로 구성되며 그들의 능동적인 동작은 클래스 정의에서 전이문장에 의해 정의도니다.또한 SAO들은 하드웨어 소자들과 같이 그들의 구성SAO들을 구조적이고 계층적으로 구성함으로써 정의 될수 있다.이러한 SAO들느 회로 시뮬레이션을 위한 능동 하드웨어 소자들을 기존의 객체지행 프로그래밍의 수동 객체들에 비해 자연스럽게 모델링 할 수 있다.또한,상속 기능을 통해 새로운 소자들을 쉽게 만들수도 있다.전이 문장들의 수행은 사건 또는 시간 중심 방식을 취할수 있기 때문에 디지탈 ,아날로그 및 혼합모드 시뮬레이션을 적합하다.그래픽 사용자 인터페이스를 지원하는 디지탈,아날로그 그리고 혼합모드 시뮬레이션 프로그램들을 TOPS방식으로 작성하여 그 적합성을 보였다.

• Journal of Crop Science and Biotechnology
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• 제10권4호
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• pp.243-248
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• 2007

Rice is a facultative short-day plant that flowers in response to reduced day lengths. This study was conducted to identify quantitative trait loci(QTL) for the early heading date(EHD) using H143 line showing extreme EHD compared to other regular cultivars in rice. The japonica H143 was crossed with a japonica cultivar 'Dongjinbyeo' as well as a tongil cultivar 'Milyang23' to measure the inheritance mode of EHD and identify major QTL conferring EHD, respectively. Pooling test revealed that segregation distortion occurred on chromosome 7 and subsequent linkage map was constructed using 10 SSR markers. QTL analysis using Q-gene 3.06 revealed that the EHD trait in H143 was largely controlled by two major QTL, EH7-1 and EH7-2, accounting for more than 40% of genetic variation that were closely related to the previously reported QTL, Hd4 and Hd2, respectively. This result suggests that these two QTL markers may be a useful source for the control of heading date in rice breeding programs.

• Communications for Statistical Applications and Methods
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• 제24권6호
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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.

• 한국육종학회지
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• 제43권2호
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• pp.115-119
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• 2011

Soybean proteins are widely used for human and animal feeds worldwide. The use of soybean protein has been expanded in the food industry due to their excellent nutritional benefits. But, antinutritional and allergenic factors are present in the raw mature soybean. P34 protein, referred as Gly m Bd 30K, has been identified as a predominant immunodominant allergen. The objective of this research is to identify the genetic mode of P34 protein for the improvement of soybean cultivar with a very low level of P34 protein. Two $F_2$ populations were developed from the cross of "Pungsannamulkong" ${\times}$ PI567476 and "Gaechuck2ho" ${\times}$ PI567476 (very low level of P34 protein). Relative amount of P34 protein was observed by Western blot analysis. The observed data for the progeny of "Pungsannamulkong" and PI567476 were 133 seeds with normal content of P34 protein and 35 seeds with very low level of P34 protein (${\chi}^2=1.157$, P=0.20-0.30). For the progeny of "Gaechuck#1" and PI567476, the observed data were 177 seeds with normal content of P34 protein and 73 seeds with very low level of P34 protein (${\chi}^2=2.353$, P=0.10-0.20). From pooled data, observed data were 310 seeds with normal content of P34 protein and 108 seeds with very low level of P34 protein (${\chi}^2=0.156$, P=0.50-0.70). The segregation ratio (3:1) and the Chi-square value obtained from the two populations suggested that P34 protein in mature soybean seed is controlled by a single major gene. Single gene inheritance of P34 protein was confirmed in 32 $F_2$ derived lines in $F_3$ seeds, which were germinated from the low level of P34 protein obtained from the cross of "Pungsannamulkong" and PI567476. These results may provide valuable information to breed for new soybean line with low level of P34 protein and identification of molecular markers linked to P34 locus.

• Current Research on Agriculture and Life Sciences
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• 제32권3호
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• pp.111-117
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• 2014

고추 역병은 그 병원균의 토양전염성 때문에 약제에 의한 방제효과가 낮아 저항성 품종의 개발이 기대되어 왔다. 고추 역병에는 CM334, AC2258, PI201234 등 다수의 저항성 유전자원이 보고되었으며, 이들의 저항성의 유전에 관한 연구로 진행되었다. 그러나 저항성의 유전양식은 실험에 사용한 재료와 연구자에 따라 1개, 2개, 혹은 3개 이상의 유전자, 다수의 유전자에 의한 양적 유전 등 다양하였다. 최근에는 분자적 방법으로 양적형질유전자좌(QTL)를 구명하는 연구가 보고되고 있으며, 분자표지를 이용한 선발 기술도 이미 육종 현장에서 활용되고 있다. 최근 저항성 품종이 다수 출시됨에 따라 새로운 병원형(pathotype), 즉, 레이스(race)의 출현에 관심이 높아지면서 이에 대한 연구가 보고되고 있다. 모두 품종과 병원균주간에 특이적 변이가 있으며, 이를 토대로 몇 개의 병원형(race)으로 분류할 수 있었다. 그러나 판별품종이 통일되지 않았고 시험에 사용한 품종들의 저항성 유전자의 조성도 달라 세계적으로 통일된 레이스분류체계는 아직 없는 실정이다. 이러한 배경에서 보다 안정된 저항성 품종의 육성을 위해서는 한 가지 저항성 재료보다는 다수의 저항성 유전자원에서 저항성을 도입하고, 육성과정에 육성품종의 보급 대상지역의 여러 균주를 사용하여 선발하는 것이 필요할 것이다.