• Clinical and Experimental Reproductive Medicine
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• v.32 no.4
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• pp.293-300
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• 2005

연구목적: 단일 유전자 이상에 대한 착상전 유전진단을 성공적으로 시행하기 위해서는 효과적이고 신뢰도가 높은 PCR 방법의 확립이 중요하다. 본 연구에서는 alkaline lysis와 duplex nested PCR 방법을 단일 림프구와 할구의 유전자 분석에 적용하여 그 효용성을 확인하고자 하였다. 재료 및 방법: 단일 유전자의 이상이 확인된 Duchenne muscular dystrophy (DMD), ornithine transcarbamylase (OTC) 결핍증과 epidermolysis bullosa (EB) 가계의 대상자들에서 채취한 단일 림프구와 공여 받은 배아의 할구를 이용하여 각각 PCR, restriction fragment length polymorphism (RFLP)와 direct DNA sequencing 분석을 시행하였다. 이러한 분석에서 유전자 증폭률 (amplification rate)과 두개의 allele 중에서 하나의 allele이 증폭되지 않는 allele drop-out (ADO) 빈도에 대해 살펴보았다. 결 과: 단일 림프구와 할구를 이용한 PCR 방법의 유전자 증폭률은 DMD에서 91.1%와 81.8%, OTC 결핍증에서 96.0%와 78.1%, EB에서 91.3%와 90.0%를 각각 나타냈으며, ADO 빈도는 OTC 결핍증에서 13.3%, EB에서 16.8%로 관찰되었다. 결 론: 본 연구에서 적용한 alkaline lysis와 duplex nested PCR 방법은 단일 유전자에 대한 착상전 유전진단에 성공적으로 적용할 수 있는 방법으로 생각되며, ADO 빈도를 최소화할 수 있는 효율적인 방법의 개발에 대한 지속적인 연구가 필요하다.

• Journal of the Korean Data and Information Science Society
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• v.24 no.1
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• pp.151-159
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• 2013

It is well known that disease of human and economic traits of livestock are affected a lot by gene combination effect rather than a single gene effect. But existing methods have disadvantages such as heavy computing, many expenses and long time. In order to overcome those drawbacks, SNPHarvester was developed to find the main gene combinations among the many genes. In this paper, we used the superior gene combination which are related to the quality of the Korean beef cattle among sets of SNPs by SNPHarvester, and identified the superior genotypes using radial graph which can enhance various qualities of Korean beef among selected SNP combinations.

• Journal of the Korean Data and Information Science Society
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• v.23 no.3
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• pp.467-474
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• 2012

Human diseases and livestock economic traits are not typically the result of variation of a single genetic locus, but are rather the result of interplay between interactions among multiple genes and a variety of environmental exposures. We have used linear regression model for adjusted environmental effects and multifactor dimensionality reduction (MDR) method to identify gene-gene interaction effect of statistical model in general. Of course, we use 5 SNPs (single uncleotide polymorphism) which were studied recently by Oh et al. (2011). We apply the MDR (multifactor demensionality reduction) method on the identify major interaction effects of single nucleotide polymorphisms responsible for economic traits in a Korean cattle population.

• Journal of Digital Contents Society
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• v.19 no.9
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• pp.1795-1801
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• 2018

Genome-Wide Association Study (GWAS) have been used to identify susceptibility genes for complex human diseases and many recent studies succeed to report common genetic factors for various diseases. Unfortunately, it is hard to understand all biological functions and mechanisms around the complex disease with GWAS only although the number of known associated genes with diseases is increased drastically because GWAS is a single locus based approach while not a gene but numerous factors may affect a disease associated pathways. PRaDA generates a combined report with genes, pathways and Gene Ontology (GO) using single nucleotide polymorphism (SNP) analysis output. The PRaDA reports not only directly associated pathways but also functionally related ones for identifying accumulated effects of low p-value SNPs. Through integrated information including indirect functional effects, user could have insights of overall disease mechanisms and markers.

• Proceedings of the Korean Society for Food Science of Animal Resources Conference
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• 2005.10a
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• pp.123-126
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• 2005

본 연구는 고등동물의 불포화지방산 생합성의 핵심 효소로 알려져 있는 Stearoyl-CoA desaturase(SCD) 유전자의 특정한 단일염기다형(single nucleotide polymorphism; SNP)이 한우의 도체 및 육질형질에 미치는 영향을 분석하기 위해 SCD 유전자의 Intron 7번 영역의 특정부위를 포함하는 primer를 제작하고, 염기서열 분석을 통하여 유전자 구조를 해석한 결과 총 211bp 크기를 갖는 염기서열의 122번째에서 아데닌(A)${\leftrightarrow}$구아닌(G) 염기치환으로 발생한 단일염기다형(SNP) 부위를 발견하였다. 이들 단일염기다형 염기서열 부위를 PCR-SSCP(single-strand conformation polymorphism) 기법을 이용하여 분석한 결과 3종류의 SNP 유전자형(A/A, A/G 및 G/G)을 검출하였다. 이 가운데 A/G 유전자형이 한우의 근내지방도와 등지방두께와 고도의 유의적 연관성이 있다는 새로운 사실을 발견하였다. 따라서, 본 연구를 통해 개발된 한우 SCD 유전자의 특정한 단일 염기다형 표지인자는 한우의 연령 및 성별에 관계없이 육질이 우수한 고급육을 생산하는 우량 한우의 조기식별에 매우 유용한 DNA 표지인자로 활용할 수 있을 것으로 기대된다.

• Journal of the Korean Data and Information Science Society
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• v.25 no.5
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• pp.1057-1067
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• 2014

Many genetic variants have been identified to be associated with complex diseases such as hypertension, diabetes and cancers throughout genome-wide association studies (GWAS). However, there still exist a serious missing heritability problem since the proportion explained by genetic variants from GWAS is very weak less than 10~15%. Gene-gene interaction study may be helpful to explain the missing heritability because most of complex disease mechanisms are involved with more than one single SNP, which include multiple SNPs or gene-gene interactions. This paper focuses on gene-gene interactions with the survival phenotype by extending the multifactor dimensionality reduction (MDR) method to the accelerated failure time (AFT) model. The standardized residual from AFT model is used as a residual score for classifying multiple geno-types into high and low risk groups and algorithm of MDR is implemented. We call this method AFT-MDR and compares the power of AFT-MDR with those of Surv-MDR and Cox-MDR in simulation studies. Also a real data for leukemia Korean patients is analyzed. It was found that the power of AFT-MDR is greater than that of Surv-MDR and is comparable with that of Cox-MDR, but is very sensitive to the censoring fraction.

• The Korean Journal of Applied Statistics
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• v.29 no.3
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• pp.437-448
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• 2016

Gene set analysis utilizing biologic information is expected to produce more interpretable results because the occurrence of tumors (or diseases) is believed to be associated with the regulation of related genes. Many methods have been developed to identify statistically significant gene sets across different phenotypes; however, most focus exclusively on either the differential gene expression or the differential correlation structure in the gene set. This research provides a new method that simultaneously considers the differential expression of genes and differential coexpression with multiple genes in the gene set. Application of this NEW method is illustrated with real microarray data example, p53; subsequently, a simulation study compares its type I error rate and power with GSEA, SAMGS, GSCA and GSNCA.

• Journal of Genetic Medicine
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• v.6 no.2
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• pp.131-145
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• 2009

Preimplantation genetic diagnosis (PGD) has become an assisted reproductive technique for couples who are at risk that enables them to have unaffected baby without facing the risk of pregnancy termination after invasive prenatal diagnosis. The molecular biology and technology for single-cell genetics has reached an extremely high level of accuracy, and has enabled the possibility of performing multiple diagnoses on one cell using whole genome amplification. These technological advances have contributed to the avoidance of misdiagnosis in PGD for single gene disorders. Polymerase chain reaction (PCR)-based PGD will lead to a significant increase in the number of disorders diagnosed and will find more widespread use, benefiting many more couples who are at risk of transmitting an inherited disease to their baby. In this review, we will focus on the molecular biological techniques that are currently in use in the most advanced centers for PGD for single gene disorders, including biopsy procedure, multiplex PCR and post-PCR diagnostic methods, and multiple displacement amplification (MDA) and the problems in the single cell genetic analysis.

• Journal of Korean Society of Industrial and Systems Engineering
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• v.31 no.4
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• pp.21-28
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• 2008

본 연구는 반도체 제조공정에서 사용되는 단일 Burn-In oven에서의 Total weighted earliness와 Tardiness를 최소화하기 위한 생산 스케줄링을 결정하는 문제를 다룬다. 본 연구에서는 모든 작업은 상시에 시작가능하고 각각은 서로 다른 가중치를 가지고 있다고 가정하였다. 일반적으로 단일 Burn-In oven은 다양한 작업들이 동시에 가능한 Batch processing 기계이다. 따라서 다양한 작업들로 구성된 하나의 Batch의 Processing time은 그 Batch 내에 있는 가장 긴 Processing time을 가지는 작업에 의해 결정된다. 본 연구에서 Batch size는 미리 결정되지 않은 상황이라고 가정한 후, 최적의 Batch 개수와 작업의 순서를 결정하기 위해 유전자 알고리즘을 적용하였다. 수리적 예제를 통해서 다양한 접근방법의 성능들을 비교한 결과, 유전자 알고리즘이 Total weighted earliness와 Tardiness를 최소화하는데 가장 뛰어난 성능을 가지고 있음을 알 수 있다.

• Journal of the Korean Data and Information Science Society
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• v.20 no.4
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• pp.639-647
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• 2009

From development of computer science, genetic algorithm has been applied to many fields for search like non-linear problem based on various variables and optimization process. Among others, in the data mining field, there are methods to select the best input variables for model accuracy and various predict models which were merged by using the genetic algorithm. In the meantime, to improve and preserve quality of the Hanwoo (Korean cattle) which is represented the agricultural industry in our country, we need to find out outstanding economical traits of Hanwoo in having specific genotype of single nucleotide polymorphism (SNP) which is inherited to next generation. According to, This research proposed the selecting method to find genotype of SNPs marker which affects economical traits of the Hanwoo by using the genetic algorithm. And we selected the best genotypes of the principal SNPs marker by applying to real data on Hanwoo genetic.