• Journal of Interdisciplinary Genomics
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• v.3 no.1
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• pp.7-12
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• 2021

Adverse drug reactions (ADRs) is a hypersensitivity reactions to specific medications, and remain a common and major problem in healthcare. ADRs suchc as drug-induced liver injury and life-threatening severe cutaneous adverse drug reactions including Stevens-Johnson syndrome, toxic epidermal necrolysis, and drug rash with eosinophilia and systemic symptoms can be occurred by uncontrolled expansion of oligoclonal T cells according to genetically predisposing HLA. In this review, I summarized the alleles of HLA genes which have been proposed to have association with ADRs caused by different drugs.

• 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.

• Mycobiology
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• v.51 no.6
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• pp.471-471
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• 2023

• Asian Pacific Journal of Cancer Prevention
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• v.13 no.6
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• pp.2759-2763
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• 2012

Objectives: Compared with Western countries, the incidence rates for breast cancer in China are still low. However, breast cancer appears to be hitting Chinese women at a much younger age, with a peak between 40 and 50 years. Furthermore, breast tumors of Asian women have molecular and genetic characteristics that are different from those of Caucasian women. Methods: A community-based study was designed to evaluate the relationship between lifestyles and breast cancer risk in Chinese women residing in Guangzhou. 16,314 subjects completed the questionnaire. Potential confounding factors included sociodemographic characteristics. Results: 33 individuals reported a history of breast cancer, yielding a prevalence rate of 202.3/100000. Associations between subjects' demographic and breast cancer risk factors were assessed. Breast cancer is associated with family history of breast cancer, X-rays received, benign breast disease and hyperlipoidemia or hypercholesteremia with elevated odds ratios. Conclusions: Family history of breast cancer, X-ray received benign breast disease and hyperlipoidemia or hypercholesteremia were significantly associated with risk of breast cancer and may havepotential for breast cancer risk assessment.

• International Journal of Industrial Entomology and Biomaterials
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• v.15 no.1
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• pp.23-33
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• 2007

A simple and reliable cryo technique using desiccation and slow freezing of winter dormant buds was employed for 238 core collection of mulberry germplasm collected from diverse geographical regions and maintained under tropical conditions in the ex situ field gene bank to develop long-term biodiversity conservation for ensuring sustainable utilization of these valuable resources. Desiccation and freezing tolerance of bud grafts and excised shoot apices in the axillary buds of different Morus species under in vivo and in vitro condition indicated species-specific variation and most of the wild Morus species were found sensitive. In vitro regeneration and cryopreservation($-196^{\circ}C$) protocols using differentiated bud meristem like axillary winter dormant buds were worked out for a wide range of Morus species, land races, wild and cultivated varieties. Successful cryopreservation of mulberry winter dormant buds of different accessions belonging to M. indica, M. alba, M. latifolia, M. cathayana, M. laevigata, M. nigra, M. australis, M. bombycis, M. sinensis, M multicaulis and M. rotundiloba was achieved. Among wild species Morus tiliaefolia, and M. serrata showed moderate recovery after cryopreservation. Survival rates did not alter after three years of cryopreservation of different Morus species. ISSR markers were used to ascertain the genetic stability of cryopreserved mulberry, which showed no difference detected among the plantlets regenerated from frozen apices in comparison to the non-frozen material.

• Journal of Physiology & Pathology in Korean Medicine
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• v.23 no.1
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• pp.214-218
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• 2009

Platycodon grandiflorum is a long-lived herbaceous and one of the very important herbal medicine and foods. P. grandiflorum is called do-ra-ji in Korea. Inter-simple sequence repeats (ISSR) markers were performed in order to analyse the phenetic relationships of four accessions of P. grandiflorum. Wild groups had higher expected diversity, 0.164 for Korean and 0.157 for Chinese accessions than those of cultivated groups, 0.079 for Korea and 0.059 for China. The total genetic diversity in P. grandiflorum was 0.268 across species and the value was lower than average values for species with similar life history traits. The patchy distribution and domestication are proposed as possible factors contributing to low genetic diversity. An assessment of the proportion of diversity within species, HAccession/HSpecies, indicated that about 57.1% the total genetic diversity was among species. Thus, the majority of genetic variation (42.9%) resided within accessions. The estimated Nm (the number of migrants per generation) was very low among four accessions (mean Nm = 0.376). The low estimate of Nm indicated that gene flow was not extensive among four accessions. ISSR01-02 locus can be recognized as an unique locus of Korean groups (wild and cultivated accessions). Thus the locus can be used to distinguish Korean accessions from Chinese accessions. ISSR04-06 locus was found specific to Chinese groups (wild and cultivated accessions) and was not shown in Korean accessions. Although the size of sampling was not large enough for P. grandiflorum, the analyses of ISSRs will certainly provide an enhanced view on the phylogeny of accessions.

• Toxicological Research
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• v.21 no.2
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• pp.99-105
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• 2005

Photo-mutagenic compounds have been known to alter skin cancer rates by acting as initiators or by affecting subsequent steps in carcinogenesis. The objectives of this study are to investigate the utility of photo-chromosomal aberration (photo-CA) assay for detecting photo-clastogens, and to evaluate its ability to predict rodent photocarcinogenicity. Photo-CA assay was performed with five test substances that demonstrated positive results in photo-carcinogenicity tests: 8-Methoxypsoralen (photoactive substance that forms DNA adducts in the presence of ultraviolet A irradiation), chlorpromazine (an aliphatic phenothiazine an alpha-adrenergic blocking agent), lomefloxacin (an antibiotic in a class of drugs called fluoroquinolones), anthracene (a tricyclic aromatic hydrocarbon a basic substance for production of anthraquinone, dyes, pigments, insecticides, wood preservatives and coating materials) and Retinoic acid (a retinoid compound closely related to vitamin A). For the best discrimination between the test substance-mediated genotoxicity and the undesirable genotoxicity caused by direct DNA absorption, a UV dose-response of the cells in the absence of the test substances was firstly analyzed. All 5 test substances showed a positive outcome in photo-CA assay, indicating that the photo-CA test is very sensitive to the photo-genotoxic effect of UV irradiation. With this limited data-set, an investigation into the predictive value of this photo-CA test for determining the photo-carcinogenicity showed that photo-CA assay has the high ability of a test to predict carcinogenicity. Therefore, the photo-CA test using mammalian cells seems to be a sensitive method to evaluate the photo-carcinogenic potential of new compounds.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.9
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• pp.3973-3980
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• 2014

Prostate adenocarcinoma is one of the leading causes of cancer related mortality in men but still limited knowledge is available about its associated functional SNPs including rs1042522 (Pro72Arg). The present study was undertaken to explore the association of this SNP with susceptibility to prostate adenocarcinoma along with its structural and functional impacts in the Pakistani population in a case-control study. Three-dimensional structure of human TP53 with Pro72Arg polymorphism was predicted through homology modeling, refined and validated for detailed structure-based assessment. We also carried out a HuGE review of the previous available data for this polymorphism. Different genetic models were used to evaluate the genotypes association with the increased risk of PCa (Allelic contrast: OR=0.0.34, 95%CI 0.24-0.50, p=0.000; GG vs CC: OR=0.17, 95%CI 0.08-0.38, p=0.000; Homozygous: OR=0.08, 95%CI 0.04-0.15, p=0.000; GC vs CC: OR=2.14, 95%CI 1.01-4.51, p=0.046; Recessive model: OR=0.10, 95%CI 0.05-0.18, p=0.000; Log Additive: OR=3.54, 95%CI 2.13-5.89, p=0.000) except the Dominant model (OR=0.77, 95%CI 0.39-1.52, p=0.46). Structure and functional analysis revealed that the SNP in the proline rich domain is responsible for interaction with HRMT1L2 and WWOX. In conclusion, it was observed that the Arg coding G allele is highly associated with increased risk of prostate adenocarcinoma in the Pakistani population (p=0.000).

• Journal of Plant Biotechnology
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• v.43 no.4
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• pp.457-465
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• 2016

Microsatellites are one of the most suitable markers for identification of variety, as they have the capability to discriminate between narrow genetic variations. The polymorphism level between 120 microsatellite primer pairs and 148 soybean varieties was investigated through the fluorescence based automatic detection system. A set of 16 primer pairs showed highly reproducible polymorphism in these varieties. A total of 204 alleles were detected using the 16 microsatellite markers. The number of alleles per locus ranged from 6 to 28, with an average of 12.75 alleles per locus. The average polymorphism information content (PIC) was 0.86, ranging from 0.75 to 0.95. The unweighted pair group method using the arithmetic averages (UPGMA) cluster analysis for 148 varieties were divided into five distinctive groups, reflecting the varietal types and pedigree information. All the varieties were perfectly discriminated by marker genotypes. These markers may be useful to complement a morphological assessment of candidate varieties in the DUS (distinctness, uniformity and stability) test, intervening of seed disputes relating to variety authentication, and testing of genetic purity in soybean varieties.

• Journal of Genetic Medicine
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• v.13 no.1
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• pp.20-25
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• 2016

Purpose: Xeroderma pigmentosum (XP) is rare autosomal recessive genetic disorder of DNA repair in which the ability to repair damage caused by ultraviolet light is deficient. We reported the first molecularly confirmed Korean patient of XP by targeted exome sequencing. The prevalence of XP included all subtype and carrier frequency of XP-A the using public data were estimated for the first time in South Korea. Materials and Methods: We described a 4-year-old Korean girl with clinical diagnosis of XP. We performed targeted exome sequencing in the patient for genetic confirmation considering disease genetic heterogeneity and for differential diagnosis. We verified a carrier frequency of c.390-1G>C in XPA gene known as mutational hot spot using Korean Reference Genome Data Base. We estimated the period prevalence of all subtypes of XP based on claims data of the Health Insurance Review and Assessment Service in South Korea. Results: We identified homozygous splicing mutation of XPA (c.390-1G>C) in the patient. The carrier frequency of risk for XPA (c.390-1G>C) was relatively high 1.608 e-03 (allele count 2/1244). The prevalence of XP in South Korea was 0.3 per million people. Conclusion: We expect that c.390-1G>C is hot spot for the mutation of XPA and possible founder variant in South Korea. However, the prevalence in South Korea was extremely low compared with Western countries and Japan.