• 생물정신의학
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• 제3권1호
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• pp.14-21
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• 1996

Molecular genetic approaches contribute to the understanding of the underlying genetic mechanism for schizophrenia. Currently genetic evidence rests on molecular genetic methods. However, the result are contradictory and somewhat confusing due to genetic heterogeneity, incomplete penetrance, misspecification of genetic model. It is expected that molecular genetics could provide key answers to the genetic cause of schizophrenia. The purpose of this article is to call attention of the readers to heterogeneity, linkage, association, basic molecular genetic methods and genetic markers and to the need far further research. It is the author's hope thai continuous research on the molecular genetics con provide clinicians with better understanding of the schizophrenia.

• Asian-Australasian Journal of Animal Sciences
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• 제8권6호
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• pp.651-655
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• 1995

A simulation study on detection of linkage between genetic markers and QTL in backcross design was conducted. The effects of various sample sizes and the degree of QTL dominance on detention of linkage were examined by using a simple regression analysis. The results indicated that as sample size increased, the standard error of the estimated slope became smaller. When the dominance effect of QTL was complete, the estimated slope tended to be negative but was statistically not significant at all with type I error of greater than 50%. With complete linkage between genetic Marker and QTL, the estimated intercept value was smallest but the estimated slope was largest as expected. In most cases with various degree of dominance and sample sizes, when the actual recombination rate became larger, greater values were obtained for the slope except in the case of complete dominance of QTL.

• Toxicological Research
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• 제21권2호
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• pp.135-140
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• 2005

Although the pathogenesis of cerebral cavernous malformation (CCM) is unknown, a familial predisposition has been recognized, with up to $55\%$ of patients having an affected relatives. Genetic linkage studies have recently mapped a gene causing CCM to a segment of the long arm of chromosome 7 (7q). We report herein a genetic linkage analysis conducted on a Korean three generation family with CCM. It's first report in Korean family. A Korean family in which one member had undergone surgery for ubtracerebrak hematoma (ICH) and confirmed the CCM, was evaluated. They were examined clinically (n=18) and by magnetic resonance (MR) imaging (n=10). Polymorphic markers (D7S1813, D7S1789) spanning the CCM1 locus on 7q were genotyped by the polymerase chain reaction and analysis of linkage was performed in this family (n=17). Six had multiple lesions on brain MR image, one of them being symptomatic, and five were asymptomatic. Seven remaining members were asymptomatic and refused MR image study. One had died of ICH from presumed CCM. Analysis of the pedigree was consistent with an autosomal dominant pattern of inheritance. All affected patients were linked to CCM1. Linkage to CCM1 can account for inheritance of CCM in this family. They had some striking features with a low clinical penetrance and the presence of multiple lesions. These findings have implications for genetic testing of this disorder and represent an important step toward identification of the gene responsible for the pathogenesis of this disease.

• 대한치과교정학회지
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• 제34권6호
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• pp.537-543
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• 2004

Microsatellite market는 유전연관분석을 위한 매우 유용한 유전표지이다. 그러나 대부분의 market들은 서양인의 정보를 이응하고 있으므로 다른 종족에서 사용할 때는 종족간에 존재할 수 있는 유전 변이의 현저한 차이를 검증해야 한다. 한국인과 일본인 집단에서 종족간 유전 변이를 조사하기 위하여, 각각 96명의 비 혈연관계의 한국인과 일본인 개체들에서 DNA를 채취하였다 그리고 microsatellite set(ABI PRISM Linkage Mapping Set- HDS, Applied Biosystems, Foster City, CA, USA)을 이용하여 1번 인간 염색체 전 부위에 걸쳐 51개의 microsatellite marker들을 배열하고 부착된 marker들의 위치를 분석하여 대립유전자 빈도와 이형질성을 결정하였다 그 결과, 한국인과 서양인 집단 사이에는 현저한 차이를 보였으나 한국인과 일본인 집단 사이에서는 매우 유사하였다. 본 연구의 결과는 유전 연관 연구에 앞서 일반적으로 상용되는 microsatellite marker에 관한 광범위한 검증을 반드시 시행하여야 한다는 것을 나타낸다. 또한 한국인과 일본인 집단 사이에서 유사하게 나타난 대립유전자 빈도와 이 형질성은 두 민족간의 동질성이 높다는 것을 의미하므로 두 민족을 대상으로 한 1번 인간염색체와 관련된 유전 질환의 유전 연관 연구를 시행할 때 동일한 microsatellite marker의 이용 가능성을 제시하였다.

• Asian-Australasian Journal of Animal Sciences
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• 제18권11호
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• pp.1548-1551
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• 2005

The leptin, an anti-obesity protein, is a hormone protein expressed and secreted mainly from adipocyte tissue, and involved in regulation of body weight, food intake and energy metabolism. In an effort to discover polymorphism(s) in genes whose variant(s) might be implicated in phenotypic traits of growth, we have sequenced exons and their boundaries of leptin gene including 1,000 bp upstream of promoter region with twenty-four unrelated Korean cattle. Fifty-seven sequence variants were identified: fourteen in 5' flanking region, twenty-seven in introns, eight in exons, and eight in 3' flanking region. By pair-wise linkage analysis among polymorphisms, ten sets of SNPs were in absolute linkage disequilibrium (LD) (|D'| = 1 and $r^2$ = 1). Among variants identified, thirty-six SNPs were newly identified, and twenty-one SNPs, which were reported in other breeds, were also confirmed in Korean cattle. The allele frequencies of variants were quite different among breeds. The information from SNPs of bovine leptin gene could be useful for further genetic studies of this gene.

• 한국작물학회지
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• 제29권2호
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• pp.128-135
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• 1984

Nepal에서 도입된 수도 'Gamadi' 품종은 Gamadiness 특성(구내성숙성)의 유전분석을 시도하였다. 그 결과를 요약하면 다음과 같다. 1. 본연구에 공시된 표식인자들 즉 제 I 연관군의Cl, nx, Pla, 제III연관군의 Pn, Rd, Pub, 제II, IV, V, VI, VII, VIII, IX, X, XI, XII 연관군의 각각 lg, g, Ps, gh, Hla, la, nl, bl, bc, 및 gl은 과거의 보고와 일치되는 분리비를 나타내어 이 실험에서의 유전분리가 정상적인 것이었음을 입증한다. 2. 'Gamadiness'는 2개의 우성유전자에 의하여 보족적인 작용으로 표현되어 Gamadi 9: 정상7의 분리비를 보였다. 이 2개유전자를 G-a와 G-b로 명명하였다. 3. G-a 유전자는 제Ⅸ연관군의 nl 유전자와 0.37$\pm$0.027의 조환가로 연관되어 있음을 확인하였다. 4. G-b 유전자는 제XI연관군의 bc 유전자와 0.27$\pm$0.061의 절환가로 연관되어 있음을 확인하였다.절환가로 연관되어 있음을 확인하였다.

• Structural Engineering and Mechanics
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• 제35권1호
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• pp.83-98
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• 2010

In this paper, the mass optimization of four bar linkages is carried out using genetic algorithms (GA) with single and dual constraints. The single constraint of bending stress and the dual constraints of bending and buckling stresses are imposed. From the movement response of the bar linkage mechanism, the analysis of the mechanism is developed using the combination of kinematics, kinetics, and finite element analysis (FEA). A penalty-based transformation technique is used to convert the constrained problem into an unconstrained one. Lastly, a detailed comparison on the effect of single constraint and of dual constraints is presented.

• The Plant Pathology Journal
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• 제18권5호
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• pp.266-270
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• 2002

Inbred lines of Chinese cabbage KU-101 (resistant line against Plasmodiophora brassicae race race 6) and CS-113 (susceptible line) were crossed and their progeny lines F$_1$, BC$_1$F$_1$, F$_2$, and F$_3$ were produced for the construction of the genetic linkage map of R brassicae race 6-resistant Brassica campestris ssp. pekinensis genome. Restriction fragment length polymorphism (RFLP) was applied to compare between parents and their f$_2$ progenies with a total of 192 probes and 5 restriction enzymes. The constructed RFLP map covered 1,104 cM with a mean distance between genetic marker of 8.0 cM, and produced 10 linkage groups having 121 genetic loci. The loci of P. brassicae race 6 (CR6)-resistant Brassica genome were determined by interval mapping of quan-titative trait loci (QTL), which resulted from bioassay using the same race of the fungi in P3 population. Resistant loci were estimated in numbers 1 (Gl) and 3 (G3) linkage groups. In the regression test, Gl had a value of4.8 logarithm of odd (LOD) score, while C3 had values of 4.2-7.2. Given these results, the location of the CR6-resistant loci within the Brassica genome map can now be addressed.

• Plant Breeding and Biotechnology
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• 제6권4호
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• pp.434-443
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• 2018

Genotyping-by-sequencing (GBS) has been used as a viable single nucleotide polymorphism (SNP) validation method that provides reduced representation sequencing by using restriction endonucleases. Although GBS makes it possible to perform marker discovery and genotyping simultaneously with reasonable costs and a simple molecular biology workflow, the standard TASSEL-GBS pipeline was designed for homozygous groups, and genotyping of heterozygous groups is more complicated. To addresses this problem, we developed a GBS pipeline for heterozygous groups that called KNU-GBS pipeline, specifically for apple (Malus domestica). Using KNU-GBS pipeline, we constructed a genetic linkage map consisting of 1,053 SNP markers distributed over 17 linkage groups encompassing a total of 1350.1 cM. The novel GBS pipeline for heterozygous groups will be useful for marker-assisted breeding programs, and diverse heterozygous genome analyses.

• 응용통계연구
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• 제28권2호
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• pp.221-230
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• 2015

전통적으로 반복 측정된 형제 쌍 연관 분석에서는 선형 혼합 모형이 사용되어 왔다. 그러나 그 모형은 관심있는 표현형과 연관된 유전자좌를 찾는 것에 있어서 검정력이 문제가 되는 것으로 지적되어 왔다. 본 연구에서 우리는 이러한 검정력 문제를 개선하는 방법으로 감마 혼합 모형을 고려하였고, 검정력과 제 1종 오류의 관점에서 선형 혼합 모형과 성능을 서로 비교하여 보았다. Genetic Analysis Workshop 13에서 제공된 자료를 이용하여 살펴본 결과, 감마 혼합 모형이 검정력에 있어서 큰 이득을 볼 수 있는 것으로 나타났다.