• Genomics & Informatics
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• v.11 no.1
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• pp.46-51
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• 2013

Normal-karyotype acute myeloid leukemia (NK-AML) is a highly malignant and cytogenetically heterogeneous hematologic cancer. We searched for somatic mutations from 10 pairs of tumor and normal cells by using a highly efficient and reliable analysis workflow for whole-exome sequencing data and performed association tests between the NK-AML and somatic mutations. We identified 21 nonsynonymous single nucleotide variants (SNVs) located in a coding region of 18 genes. Among them, the SNVs of three leukemia-related genes (MUC4, CNTNAP2, and GNAS) reported in previous studies were replicated in this study. We conducted stepwise genetic risk score (GRS) models composed of the NK-AML susceptible variants and evaluated the prediction accuracy of each GRS model by computing the area under the receiver operating characteristic curve (AUC). The GRS model that was composed of five SNVs (rs75156964, rs56213454, rs6604516, rs10888338, and rs2443878) showed 100% prediction accuracy, and the combined effect of the three reported genes was validated in the current study (AUC, 0.98; 95% confidence interval, 0.92 to 1.00). Further study with large sample sizes is warranted to validate the combined effect of these somatic point mutations, and the discovery of novel markers may provide an opportunity to develop novel diagnostic and therapeutic targets for NK-AML.

• Genomics & Informatics
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• v.11 no.4
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• pp.164-173
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• 2013

Genomic instability, which occurs through both genetic mechanisms (underlying inheritable phenotypic variations caused by DNA sequence-dependent alterations, such as mutation, deletion, insertion, inversion, translocation, and chromosomal aneuploidy) and epigenomic aberrations (underlying inheritable phenotypic variations caused by DNA sequence-independent alterations caused by a change of chromatin structure, such as DNA methylation and histone modifications), is known to promote tumorigenesis and tumor progression. Mechanisms involve both genomic instability and epigenomic aberrations that lose or gain the function of genes that impinge on tumor suppression/prevention or oncogenesis. Growing evidence points to an epigenome-wide disruption that involves large-scale DNA hypomethylation but specific hyper-methylation of tumor suppressor genes, large blocks of aberrant histone modifications, and abnormal miRNA expression profile. Emerging molecular details regarding the modulation of these epigenetic events in cancer are used to illustrate the alterations of epigenetic molecules, and their consequent malfunctions could contribute to cancer biology. More recently, intriguing evidence supporting that genetic and epigenetic mechanisms are not separate events in cancer has been emerging; they intertwine and take advantage of each other during tumorigenesis. In addition, we discuss the collusion between epigenetics and genetics mediated by heterochromatin protein 1, a major component of heterochromatin, in order to maintain genome integrity.

• Journal of applied mathematics & informatics
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• v.15 no.1_2
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• pp.415-423
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• 2004

In allelic model X = ($x_1,\;x_2,...x_{d}$), $M_f(t)$= f(p(t)) - ${{\int}^{t}}_0$Lf(p(t))ds is a P-martingale for diffusion operator L under the certain conditions. In this note, we can show uniqueness of martingale problem associated with mean vector and obtain a complete description of ergodic property by using of the semigroup method.

• Journal of applied mathematics & informatics
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• v.28 no.3_4
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• pp.1003-1008
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• 2010

In allelic model $X\;=\;(x_1,\;x_2,\;\cdots,\;x_d)$, $$M_f(t)\;=\;f(p(t))\;-\;\int_0^t\;Lf(p(t))ds$$ is a P-martingale for diffusion operator L under the certain conditions. In this note, we define $T_tf\;=\;E_{p_0}^{p^*}\;[f((P(t))]$ for $t\;{\geq}\;0$ for using a new diffusion operator $L^*$ and we show the diffusion relations between $T_t$ and diffusion operator $L^*$.

• Journal of applied mathematics & informatics
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• v.27 no.3_4
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• pp.757-762
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• 2009

In allelic model $X\;=\;(x_1,\;x_2,\;{\cdots},\;x_d)$, $$M_f(t)\;=\;f(p(t))\;-\;{\int}^t_0\;Lf(p(t))ds$$ is a P-martingale for diffusion operator L under the certain conditions. We can also obtain a new diffusion operator $L^*$ for diffusion coefficient and we prove that unique solution for $L^*$-martingale problem exists. In this note, we define new symmetric preserving transformation. Uniqueness for martingale problem and symmetric property will be proved.

• Genomics & Informatics
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• v.17 no.3
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• pp.34.1-34.3
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• 2019

Direct-to-consumer (DTC) genetic testing is a controversial issue although Korean Government is considering to expand DTC genetic testing. Preventing the exaggeration and abusing of DTC genetic testing is an important task considering the early history of DTC genetic testing in Korea. And the DTC genetic testing performance or method has been rarely reported to the scientific and/or medical community and reliability of DTC genetic testing needs to be assessed. Law enforcement needs to improve these issues. Also principle of transparency needs to be applied.

• Genomics & Informatics
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• v.20 no.4
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• pp.39.1-39.9
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• 2022

Various methods of frequent pattern mining have been applied to genetic problems, specifically, to the combined association of two genotypes (a genotype pattern, or diplotype) at different DNA variants with disease. These methods have the ability to come up with a selection of genotype patterns that are more common in affected than unaffected individuals, and the assessment of statistical significance for these selected patterns poses some unique problems, which are briefly outlined here.

• Bulletin of the Korean Chemical Society
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• v.35 no.1
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• pp.39-44
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• 2014

Glass discs functionalized with alkynyl (GDA) terminated monolayers were prepared and incubated in $AgNO_3$ solution (GDA-Ag). The modified functional glass surfaces were characterized by X-ray photoelectron microscopy (XPS). The potential of GDA and GDA-Ag as antimicrobial surfaces was investigated. Anti-microbial efficacies of GDA against Escherichia coli, Pseudomonas aeruginosa, Staphylococcus aureus, Bacillus cereus, and Candida albicans was relatively low ranging from 4.67 to 17.00%. However, the GDA-Ag was very effective and its antimicrobial efficacy ranged from 99.90 to 99.99% against the same set of microbial strains except for C. albicans where it was 95.50%. The durability of the Ag bonded to the terminal alkynyl groups was studied by placing the GDA-Ag in PBS buffer solution (pH 7.4) for two weeks. Initially, the silver release was relatively fast, with 40.05 ppb of silver released in first 24 h followed by a very slow and constant release. To study the potential of GDA-Ag for medical applications, in vitro cytotoxicity of GDA-Ag against Human Embryonic Kidney 293 (HEK293) cell lines was studied using WST-assay. The cytotoxicity of the GDA-Ag was very low (5%) and was almost comparable to the control (blank glass disc) indicating that GDA-Ag has a promising potential for medical applications.

• Journal of Microbiology and Biotechnology
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• v.12 no.3
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• pp.470-475
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• 2002

In the course of screening for a novel cell cycle inhibitor, a potent Cdk 1 inhibitor, HY558, was found from the culture broth of Penicillium minioluteum F558 isolated from a soil sample. The molecular ion of HY558 was identified at m/z 329 (MH+) with a molecular formula of $C_20H_44ON_2$. HY558 exhibited selective antiproliferative effects on various human cancer cell lines. Its $IC_50$ values were estimated to be 0.29 mM on HepG2, 0.30 mM on HeLa, 0.30 mM on HL6O, 0.33 mM on HT-29, and 0.25 mM on AGS cells. Interestingly, Hy558 demonstrated no antiproliferative effect with normal lymphocytes used as the control, and a low level of inhibition on the proliferation of A549 cancer cells. A flow cytometric analysis of HepG2 cells revealed an appreciable arrest of cells at the G1 and G2/M phases of the cell cycle following treatment with Hy558. furthermore, DNA fragmentation due to apoptosis was observed in HeLa cells treated with 0.46 mM of HY558.

• Asian-Australasian Journal of Animal Sciences
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• v.15 no.5
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• pp.627-632
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• 2002

Genetic parameters for dairy performance traits were estimated, breeding values for the traits of all breeding sires and cows were predicted and the genetic trends were estimated using the breeding values in the Central Cattle Breeding Station (CCBS). A total of 3,801 records for Bangladeshi Local, 756 records for Red Sindhi and 959 records for Sahiwal covering the period from 1961 to 1997 were used in this analysis. Traits considered were total milk production per lactation (TLP), lactation length (LL) and daily milk yield (DMY). The genetic parameters were estimated by the REML using MTDFREML program. The breeding values were predicted by a best linear unbiased prediction (BLUP). In all sets of data, the genetic trends for the dairy performance traits were computed as averages of breeding values for cows born in the particular year. The estimates of heritability for TLP (0.26 and 0.27) and DMY (0.28 and 0.27) were moderate in Bangladeshi local and Red Sindhi breed, respectively. Furthermore, the heritability estimate for LL (0.24) was moderate in Red Sindhi. The estimates of heritabilities for all traits were low in Sahiwal. The repeatability estimate was high for TLP, moderate for LL and moderate to high for DMY. All variances estimated in Bangladeshi Local were low, comparing the respective values estimated in both Red Sindhi and Sahiwal. On the other hand, additive genetic variances for the three traits were estimated very low in Sahiwal. The genetic trends for the three dairy production traits have not been positive except for the recent trend in Bangladeshi Local.