• Korean Journal of Radiology
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• 제23권1호
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• pp.101-111
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• 2022

Objective: Familial intracranial aneurysms (FIAs) are found in approximately 6%-20% of patients with intracranial aneurysms (IAs), suggesting that genetic predisposition likely plays a role in its pathogenesis. The aim of this study was to identify possible IA-associated variants using whole exome sequencing (WES) in selected Korean families with FIA. Materials and Methods: Among the 26 families in our institutional database with two or more IA-affected first-degree relatives, three families that were genetically enriched (multiple, early onset, or common site involvement within the families) for IA were selected for WES. Filtering strategies, including a family-based approach and knowledge-based prioritization, were applied to derive possible IA-associated variants from the families. A chromosomal microarray was performed to detect relatively large chromosomal abnormalities. Results: Thirteen individuals from the three families were sequenced, of whom seven had IAs. We noted three rare, potentially deleterious variants (PLOD3 c.1315G>A, NTM c.968C>T, and CHST14 c.58C>T), which are the most promising candidates among the 11 potential IA-associated variants considering gene-phenotype relationships, gene function, co-segregation, and variant pathogenicity. Microarray analysis did not reveal any significant copy number variants in the families. Conclusion: Using WES, we found that rare, potentially deleterious variants in PLOD3, NTM, and CHST14 genes are likely responsible for the subsets of FIAs in a cohort of Korean families.

• 대한수학회논문집
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• 제33권3호
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• pp.1001-1011
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• 2018

We introduce some variants of the finite Ramsey theorem. The variants are based on a refinement of homogeneity. In particular, they cover homogeneity, minimal homogeneity, end-homogeneity as special cases. We also show how to obtain upper bounds for the corresponding Ramsey numbers.

• 한국균학회지
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• 제10권4호
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• pp.187-192
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• 1982

감자 건부병균(乾腐病菌) Fusarium roseum ‘Sambucinum'의 병원성(病原性) 감소(減少) 및 증가(增加) 변이체(變異體)의 균사생장(菌絲生長)과 분생포자(分生胞子) 형성(形成)에 미치는 각종(各種) 아미노산(酸)의 효과를 시험(試驗)한 결과(結果)는 다음과 같았다. 병원성(病原性) 증가(增加) 변이체(變異體) Ic52 및 Ic116은 병원성(病原性) 감소(減少) 변이체(變異體) Dc14 및 Dc91 보다 모든 공시(供試) 아미노산(酸)에서 균사생장(菌絲生長)이 더큰 경향(傾向)을 보여 leucine에서 최고(最高) 67mg까지 생장(生長)하였으며 분생포자(分生胞子) 형성(形成)은 $25{\times}10^{4}/ml$ 이하로 감소(減少) 또는 완전(完全)히 소실(消失)하였다. Methionine은 변이체(變異體) 및 야생형(野生型)에 대(對)하여 $14{\sim}20mg$의 가장 적은 균사생장(菌絲生長)을 보였으며 분생포자(分生胞子)는 전연형성(全然形成)시키지 않았다. Cystine은 병원성(病原性) 감소(減少) 변이체(變異體) Dc14 및 Dc91의 균사생장(菌絲生長) 30mg 및 19mg를 보여 asparagine과 같이 중정도(中程度)였고 분생포자(分生胞子) 형성(形成)에는 효과가 없었다. 모든 공시(供試) 아미노산(酸)에서 병원성(病原性) 감소(減少) 변이체(變異體) Dc14의 균사생장(菌絲生長)은 Dc91보다 큰 경향(傾向)을 보였으며 분생포자(分生胞子) 형성(形成)도 Dc91에서 최고(最高) $195{\times}10^{4}/ml$를 보인 glutamic acid를 제외(除外)한 아미노산(酸)에서 Dc14 현저(顯著)하게 많았으며 lysine HCI은 이들 양변이체(兩變異體)의 분생포자(分生胞子)를 형성(形成)시키지 않았다.

• Genomics & Informatics
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• 제18권1호
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• pp.11.1-11.3
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• 2020

In genome-wide association studies, pathway-based analysis has been widely performed to enhance interpretation of single-nucleotide polymorphism association results. We proposed a novel method of hierarchical structural component model (HisCoM) for pathway analysis of common variants (HisCoM for pathway analysis of common variants [HisCoM-PCA]) which was used to identify pathways associated with traits. HisCoM-PCA is based on principal component analysis (PCA) for dimensional reduction of single nucleotide polymorphisms in each gene, and the HisCoM for pathway analysis. In this study, we developed a HisCoM-PCA software for the hierarchical pathway analysis of common variants. HisCoM-PCA software has several features. Various principle component scores selection criteria in PCA step can be specified by users who want to summarize common variants at each gene-level by different threshold values. In addition, multiple public pathway databases and customized pathway information can be used to perform pathway analysis. We expect that HisCoM-PCA software will be useful for users to perform powerful pathway analysis.

• Journal of Plant Biotechnology
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• 제4권4호
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• pp.163-170
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• 2002

Radiation induced and somaclonal variations were investigated in the regenerates from gamma irradiated and controlled embryogenic callus (EC) of sweetpotato cvs., Yulmi and White Star by morphological, RAPD and AFLP analysis. Most (approx. 90%) of the EC produced somatic embryos developed into plantlets after being transferred to the auxin-free medium. The frequency of morphological variants derived from the irradiated callus ranged from 3 to 7.8% compared to 0.1-1.1% of that derived from the non-irradiated. Morphological variants were selected from the regenerates and analyzed by RAPD and AFLP procedures. RAPD polymorphisms of Yulmi and White Star regenerates from irradiated calli were 8.8% and 6.1%, respectively. However, the polymerphisms among regenerates from the non-irradiation treatment in these two cultivars were non-detectable and 3%, respectively. AFLP polymorphisms of Yulmi and White Star regenerates from irradiated calli were 29.9% and 28.6%, respectively. while the frequencies for those form non-irradiated calli were 8.5% and 5.6%, respectively. Both the control plants and variants from the nonirradiated were clustered together, while variants from irradiated were separated from the group by Nearest-Neighbor-Interchange Branch Swapping Abbreviation: EC (Embryogenic callus), AFLP (Amplified Fragment Length Polymorphism), RAPD (Random amplified polymorphic DNA)

• 정보과학회 논문지
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• 제43권3호
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• pp.289-295
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• 2016

악성코드 개발자들은 악성코드 탐지를 회피하기 위하여 변종 악성코드를 유포한다. 정적 분석 기반의 안티 바이러스로는 변종 악성코드를 탐지하기 어려우며, 따라서 API 호출 정보 기반의 동적 분석이 필요하다. 본 논문에서는 악성코드 분석가의 변종 악성코드 패밀리 분류에 도움을 줄 수 있는 악성코드 패밀리 추천 기법을 제안하였다. 악성코드 패밀리의 API 호출 정보를 동적 분석을 통하여 추출하였다. 추출한 API 호출 정보에 다중 서열 정렬 기법을 적용하였다. 정렬 결과로부터 각 악성코드 패밀리의 시그니쳐를 추출하였다. 시그니쳐와의 유사도를 기준으로, 제안하는 기법이 새로운 악성코드의 패밀리 후보를 3개까지 추천하도록 하였다. 실험을 통하여 제안한 악성코드 패밀리 추천 기법의 정확도를 측정하였다.

• Communications for Statistical Applications and Methods
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• 제27권5호
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• pp.535-546
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• 2020

In genetic association studies, pleiotropy is a phenomenon where a variant or a genetic region affects multiple traits or diseases. There have been many studies identifying cross-phenotype genetic associations. But, most of statistical approaches for detection of pleiotropy are based on individual tests where a single variant association with multiple traits is tested one at a time. These approaches fail to account for relations among correlated variants. Recently, multivariate regularization methods have been proposed to detect pleiotropy in analysis of high-dimensional genomic data. However, they suffer a problem of tuning parameter selection, which often results in either too many false positives or too small true positives. In this article, we applied selection probability to multivariate regularization methods in order to identify pleiotropic variants associated with multiple phenotypes. Selection probability was applied to individual elastic-net, unified elastic-net and multi-response elastic-net regularization methods. In simulation studies, selection performance of three multivariate regularization methods was evaluated when the total number of phenotypes, the number of phenotypes associated with a variant, and correlations among phenotypes are different. We also applied the regularization methods to a wild bean dataset consisting of 169,028 variants and 17 phenotypes.

• Biomolecules & Therapeutics
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• 제26권2호
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• pp.101-108
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• 2018

G protein-coupled receptors (GPCRs) are the largest superfamily of transmembrane receptors and have vital signaling functions in various organs. Because of their critical roles in physiology and pathology, GPCRs are the most commonly used therapeutic target. It has been suggested that GPCRs undergo massive genetic variations such as genetic polymorphisms and DNA insertions or deletions. Among these genetic variations, non-synonymous natural variations change the amino acid sequence and could thus alter GPCR functions such as expression, localization, signaling, and ligand binding, which may be involved in disease development and altered responses to GPCR-targeting drugs. Despite the clinical importance of GPCRs, studies on the genotype-phenotype relationship of GPCR natural variants have been limited to a few GPCRs such as b-adrenergic receptors and opioid receptors. Comprehensive understanding of non-synonymous natural variations within GPCRs would help to predict the unknown genotype-phenotype relationship and yet-to-be-discovered natural variants. Here, we analyzed the non-synonymous natural variants of all non-olfactory GPCRs available from a public database, UniProt. The results suggest that non-synonymous natural variations occur extensively within the GPCR superfamily especially in the N-terminus and transmembrane domains. Within the transmembrane domains, natural variations observed more frequently in the conserved residues, which leads to disruption of the receptor function. Our analysis also suggests that only few non-synonymous natural variations have been studied in efforts to link the variations with functional consequences.

• Journal of Microbiology and Biotechnology
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• 제3권3호
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• pp.161-167
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• 1993

Immobilized metal ion affinity chromatography (IMAC) was used to separate various types of recombinant hirudins from the culture broth. The wild type hirudin exhibited a retention in Cu(II)-chelated affinity chromatgoraphy since it contained a single exposed histidine at position 51. To obtain a stronger retention on an IDA-Cu(II) column, the hirudin variants were genetically engineered to contain one or two histidine (s) more than the wild type. While the affinity of the variants for IDA-Cu(II) ligand increased in comparison to that of the wild type, the antithrombin activities reduced to a certain degree. Cu(II), Ni(II) and Zn(II) ions were applied separately to the metal chelate column to investigate ligand specificity with respect to protein retention. As a result, the Cu(II) chelated chromatography gave the best resolution for all the hirudins tested and appeared to be the only IMAC that could be used generally for the purification of hirudins with a decreasing pH gradient.

• Clinical and Experimental Pediatrics
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• 제60권10호
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• pp.327-332
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• 2017

Purpose: Short stature affects approximately 2%-3% of children, representing one of the most frequent disorders for which clinical attention is sought during childhood. Despite assumed genetic heterogeneity, mutations or deletions in the short stature homeobox-containing gene (SHOX ) are frequently detected in subjects with short stature. Idiopathic short stature (ISS) refers to patients with short stature for various unknown reasons. The goal of this study was to screen all the exons of SHOX to identify related mutations. Methods: We screened all the exons of SHOX for mutations analysis in 105 ISS children patients (57 girls and 48 boys) living in Taif governorate, KSA using a direct DNA sequencing method. Height, arm span, and sitting height were recorded, and subischial leg length was calculated. Results: A total of 30 of 105 ISS patients (28%) contained six polymorphic variants in exons 1, 2, 4, and 6. One mutation was found in the DNA domain binding region of exon 4. Three of these polymorphic variants were novel, while the others were reported previously. There were no significant differences in anthropometric measures in ISS patients with and without identifiable polymorphic variants in SHOX. Conclusion: In Saudi Arabia ISS patients, rather than SHOX, it is possible that new genes are involved in longitudinal growth. Additional molecular analysis is required to diagnose and understand the etiology of this disease.