• Pediatric Infection and Vaccine
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• v.3 no.2
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• pp.133-138
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• 1996

Purpose : In the treatment of MRSA infection, rapid detection of MRSA is extremely important. The mecA gene codes the new drug resistant polypeptides called PBP2' which mediates the clinically relevant resistance to all beta-lactam antibiotics. The identical mecA gene has been found in coagulase-negative staphylococcus with the methicillin-resistant phenotype. On the other hand, the femA gene was absent from coagulase negative staphylococcus strains with the methicillin resistant phenotype. This study is aimed at early detection and definite diagnosis of MRSA. Methods : A total of 24 MRSA strains were studied. All strains were tested for antimicrobial susceptibility and purified DNA. We amplified both mecA and femA genes by PCR in 24 strains. Results : In MRSA all the 16 strains (100%) carried femA gene and 11 strains (68.7%) carried mecA gene. In contrast, in methicillin sensitive staphylococcus all the 8 strains (100%) carried femA and only 3 strains (37.5%) were detected mecA. Conclusions : As results, there are difference in the phenotype and genotype of methicillin resistance by PCR of mecA and femA. Such disparities between methicillin resistance and the presence of mecA gene suggest the presence of control gene of the mecA.

• Journal of Genetic Medicine
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• v.4 no.2
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• pp.133-141
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• 2007

Purpose : Cri-du-Chat syndrome (CdCs) is a rare but clinically recongnizable condition with an estimated incidence of 1:50,000 live births. The clinical characteristics of the syndrome include severe psychomotor and mental retardation, microcephaly, hypertelorism, hypotonia, and slow growth. Also the size of the chromosome 5p deletion ranges were known from the region 5p13 to the terminal region. In this study, we report the spectrum of 5p deletion in Korean 20 pts. with CdCs and genotype-phenotype associations in CdCs. Methods : In order to delineate genotype-phenotype correlation, molecular cytogenetic studies including GTG banding and clinical characterization were performed on Korean 20 pts with CdCs including parents. CGH array and Fluorescence in situ hybridization (FISH) analysis were used to confirm a terminal deletion karyotype and map more precisely the location of the deletion breakpoint. Results : Molecular analysis of the spectrum of 5p deletion revealed 9 pts (45%) with a del (5)(p14), 7 pts. (35%) a del (5)(p13), 3 pts. (15%) a del (5)(p15.1) and 1 pt. (5%) a del (5)(p15.2) in 20 pts with CdCs. 4(20%)pts were identified to have additional chromosome abnormalites of deficiency and duplication involving chromosomes of 6, 8, 18, & 22. Parental study identified 3 familial case (2 paternal and 1 maternal origin) showing parents being a balanced translocation carrier. And the comparison study of the deletion break points among these 20 pts. with their phenotype has showed the varying clinical pheno-types in the CdCs critical region. Conclusion : The characterization of 5p deletion including parental study may help to delineate the genotypephenotype correlation in CdCs. Also these molecular cytogenetic analyses will be able to offer better information for accurate genetic diagnosis in CdCs and further make possible useful genetic counseling in pts. and family.

• Clinical and Experimental Pediatrics
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• v.55 no.3
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• pp.88-92
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• 2012

Purpose: Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a rare lysosomal storage disorder caused by iduronate-2-sulfatase (IDS) deficiency. MPS II causes a wide phenotypic spectrum of symptoms ranging from mild to severe. IDS activity, which is measured in leukocyte pellets or fibroblasts, was reported to be related to clinical phenotype by Sukegawa-Hayasaka et al. Measurement of residual plasma IDS activity using a fluorometric assay is simpler than conventional measurements using skin fibroblasts or peripheral blood mononuclear cells. This is the first study to describe the relationship between plasma IDS activity and clinical phenotype of MPS II. Methods: We hypothesized that residual plasma IDS activity is related to clinical phenotype. We classified 43 Hunter syndrome patients as having attenuated or severe disease types based on clinical characteristics, especially intellectual and cognitive status. There were 27 patients with the severe type and 16 with the attenuated type. Plasma IDS activity was measured by a fluorometric enzyme assay using 4-methylumbelliferyl- ${\alpha}$-iduronate 2-sulphate. Results: Plasma IDS activity in patients with the severe type was significantly lower than that in patients with the attenuated type ($p$=0.006). The optimal cut-off value of plasma IDS activity for distinguishing the severe type from the attenuated type was 0.63 $nmol{\cdot}4hr^{-1}{\cdot}mL^{-1}$. This value had 88.2% sensitivity, 65.4% specificity, and an area under receiver-operator characteristics (ROC) curve of 0.768 (ROC curve analysis; $p$=0.003). Conclusion: These results show that the mild phenotype may be related to residual lysosomal enzyme activity.

• The Journal of Internal Korean Medicine
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• v.37 no.1
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• pp.47-64
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• 2016

Objectives: In the present study, a genetic analysis was conducted to investigate the association of the expression of SNPs of EDN1 gene polymorphism with the clinical phenotype in bronchial asthma patients with either excess or deficiency syndrome.Methods: Ninety-four healthy control subjects and 52 asthma patients were included in this study. The asthma patients were divided into two groups: those with deficiency syndrome and those with excess syndrome. We searched the exonic and promoter areas of the EDN1 gene in the NCBI website SNPs with <0.01 minor allele frequency (MAF) and <0.01 heterozygosity. Pro programs were performed to obtain the odds ratio, 95% confidence interval, and p-value. Multiple logistic regression models were conducted to analyze the genetic data.Results: In our genotype and allele analyses, there were significant differences in the codominant 2 model of the rs3087459 SNP genotype and also in the CGG haplotype between the control group and the asthma group. Genotype and allele analyses were conducted between the deficiency and excess syndrome group. There were significant differences in the dominant and log-additive model and also in the frequency of C-alleles of rs3087459 SNP genotype. There were significant differences in codominant 1, dominant and log-additive model and T-allele of rs5370 SNP genotype. The AGG haplotype also revealed significant differences.Conclusions: EDN1 SNPs (rs3087459, rs5370) showed a significant association with symptomatic excess syndrome in Korean asthmatic patients.

• Journal of the Korean Operations Research and Management Science Society
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• v.32 no.2
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• pp.109-121
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• 2007

This paper focuses on algorithms based on the evolution, which is applied to various optimization problems. Especially, among these algorithms based on the evolution, we investigate the simple genetic algorithm based on Darwin's evolution, the Lamarckian algorithm based on Lamark's evolution and the Baldwin algorithm based on the Baldwin effect and also Investigate the difference among them in the biological and engineering aspects. Finally, through this comparison, we suggest a new algorithm to find more various solutions changing the genotype or phenotype search space and show the performance of the proposed method. Conclusively, the proposed method showed superior performance to the previous method which was applied to the constrained minimum spanning tree problem and known as the best algorithm.

• Clinical and Experimental Pediatrics
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• v.61 no.4
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• pp.101-107
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• 2018

Recent advances in genetics have determined that a number of epilepsy syndromes that occur in the first year of life are associated with genetic etiologies. These syndromes range from benign familial epilepsy syndromes to early-onset epileptic encephalopathies that lead to poor prognoses and severe psychomotor retardation. An early genetic diagnosis can save time and overall cost by reducing the amount of time and resources expended to reach a diagnosis. Furthermore, a genetic diagnosis can provide accurate prognostic information and, in certain cases, enable targeted therapy. Here, several early infantile epilepsy syndromes with strong genetic associations are briefly reviewed, and their genotype-phenotype correlations are summarized. Because the clinical presentations of these disorders frequently overlap and have heterogeneous genetic causes, next-generation sequencing (NGS)-based gene panel testing represents a more powerful diagnostic tool than single gene testing. As genetic information accumulates, genetic testing will likely play an increasingly important role in diagnosing pediatric epilepsy. However, the efforts of clinicians to classify phenotypes in nondiagnosed patients and improve their ability to interpret genetic variants remain important in the NGS era.

• Proceedings of the Korean Society for Bioinformatics Conference
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• 2001.10a
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• pp.1-9
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• 2001

scale genomic and postgenomic data means that many of the challenges in biomedical research are now challenges in computational sciences and information technology. The informatics revolutions both in clinical informatics and bioinformatics will change the current paradigm of biomedical sciences and practice of clinical medicine, including diagnostics, therapeutics, and prognostics. Postgenome informatics, powered by high throughput technologies and genomic-scale databases, is likely to transform our biomedical understanding forever much the same way that biochemistry did a generation ago. In this talk, 1 will describe how these technologies will in pact biomedical research and clinical care, emphasizing recent advances in biochip-based functional genomics. Basic data preprocessing with normalization and filtering, primary pattern analysis, and machine teaming algorithms will be presented. Issues of integrated biochip informatics technologies including multivariate data projection, gene-metabolic pathway mapping, automated biomolecular annotation, text mining of factual and literature databases, and integrated management of biomolecular databases will be discussed. Each step will be given with real examples from ongoing research activities in the context of clinical relevance. Issues of linking molecular genotype and clinical phenotype information will be discussed.

• Clinical and Experimental Pediatrics
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• v.60 no.3
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• pp.55-63
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• 2017

Advances in podocytology and genetic techniques have expanded our understanding of the pathogenesis of hereditary steroid-resistant nephrotic syndrome (SRNS). In the past 20 years, over 45 genetic mutations have been identified in patients with hereditary SRNS. Genetic mutations on structural and functional molecules in podocytes can lead to serious injury in the podocytes themselves and in adjacent structures, causing sclerotic lesions such as focal segmental glomerulosclerosis or diffuse mesangial sclerosis. This paper provides an update on the current knowledge of podocyte genes involved in the development of hereditary nephrotic syndrome and, thereby, reviews genotype-phenotype correlations to propose an approach for appropriate mutational screening based on clinical aspects.

• Proceedings of the Korea Contents Association Conference
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• 2014.11a
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• pp.43-44
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• 2014

본 논문에서는 유전알고리즘의 유전자형-표현형을 사용한 수정된 이진 입자군집최적화의 두 번째 버전을 소개한다. 첫 번째 버전의 수정된 이진 입자군집최적화는 위치 정보에 유전학의 표현형을 사용한 반면에 제안하는 버전은 유전학의 유전자형을 사용한다. 이진 정보만을 제공하는 표현형에 비해 연속 공간 전체를 탐색공간으로 제공하는 유전자형 정보를 사용하여 해 공간을 보다 넓은 공간으로 만들 수 있다. 10개의 실험 평가 함수에 실험한 결과, 두 번째 버전은 탐색 공간이 넓고 지역최적해가 많은 함수에서 우수한 결과를 보였다.

• Mycobiology
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• v.37 no.3
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• pp.189-196
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• 2009

A taxonomic study of Peltigera in South Korea was performed. The phylogenetic analysis based on nr DNA internal transcribed spacer sequences suggests that Peltigera is a well-supported monophyletic group. Important characteristics are the phycobiont type of thallus and the vein type at the lower cortex (wide and flat, or narrow and ridged). The vertical or horizontal arrangement of the apothecia is also important in distinguishing species in this genus. Eleven species of Peltigera were revealed and confirmed, which included one new record, P. elisabethae. A description of each species is presented with morphological, anatomic, and chemical characteristics, and comparisons between similar species are made. A key to the species is also presented.