• Journal of Genetic Medicine
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• v.19 no.1
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• pp.7-13
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• 2022

Purpose: Preimplantation genetic testing for monogenic disorders (PGT-M) has been successfully used to prevent couples with monogenic disorders from passing them on to their child. Charcot-Marie-Tooth Disease (CMT) is a genetic disorder characterized by progressive extremity muscle degeneration and loss of sensory function. For the first time in Korea, we report our experience of applying single nucleotide polymorphism genotyping and karyomapping for PGT-M of CMT disease. Materials and Methods: Prior to clinical PGT-M, preclinical tests were performed using genotypes of affected families to identify informative single-nucleotide polymorphisms associated with mutant alleles. We performed five cycles of in vitro fertilization PGT-M in four couples with CMT1A, CMT2A, and CMT2S in CHA Fertility Center, Seoul Station. Results: From July 2020 through August 2021, five cycles of PGT-M with karyomapping in four cases with CMT1 and CMT2 were analyzed retrospectively. A total of 17 blastocysts were biopsied and 15 embryos were successfully diagnosed (88.2%). Ten out of 15 embryos were diagnosed as unaffected (66.7%). Five cycles of PGT-M resulted in four transfer cycles, in which four embryos were transferred. Three clinical pregnancies were achieved (75%) and the prenatal diagnosis by amniocentesis for all three women confirmed PGT-M of karyomapping. One woman delivered a healthy baby uneventfully and two pregnancies are currently ongoing. Conclusion: This is the first report in Korea on the application of karyomapping in PGT-M for CMT patients. This study shows that karyomapping is an efficient, reliable and accurate diagnostic method for PGT-M in various types of CMT diseases.

• Korean Journal of Microbiology
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• v.54 no.1
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• pp.31-37
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• 2018

Campylobacter jejuni is an important food-borne pathogen causing gastroenteritis in human. We isolated 208 strains of Campylobacter jejuni from 430 diarrhea patients and food employees with 17 food-poisoning outbreaks between 2014 and 2016 in Gyeonggi area. The strains were tested for genetic relationship and the genotype distribution using PFGE and multiplex-PCR typing. Among the 47 Penner-serotypes known for C. jejuni, it was identified as a genotype consisting of 35 genotypes by multiplex-PCR typing and represented 7 genotypes (HS2, HS4A, HS8, HS15, HS29, HS41, and HS53) in the selected strain. From the PFGE analysis of 11 food-poisoning outbreaks, 5 group of PFGE profile were obtained, and genetic similarity in these clusters ranged from 61.8 to 66.6%. This study examines the genetic diversity of C. jejuni that have been separated in the Gyeonggi area through various genetic analysis methods and identifies the correlation between strains in patients who have been infected with the disease in the future.

• Research in Plant Disease
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• v.30 no.1
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• pp.50-59
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• 2024

Charcoal rot disease, caused by the fungus Macrophomina phaseolina, is one of the most important diseases of Sesame (Sesamum indicum) all over the world. However, the population biology of M. phaseolina is poorly understood. In this study, M. phaseolina isolates from five different regions of Iran (Khuzestan, Fars, Bushehr, Hormozgan, and Kohgiluyeh & Boyer-Ahmad provinces) (n=200) were analyzed for genetic variation using inter simple sequence repeats marker. In total, 152 unique haplotypes were identified among the 200 M. phaseolina isolates, and gene diversity (H=0.46-0.84) and genotypic diversity were high in each of the regions. The structure analysis clustered five Iranian populations into two distinct groups, the individuals from group 1 were assigned to the Bushehr population and the individuals from Khuzestan, Fars, Hormozgan and Kohgiluyeh & Boyer-Ahmad were aggregated and formed group 2. The results matched with genetic differentiation and gene flow among regions. Analyses of the distribution of gene diversity within and among five Iranian populations were 61% and 39%, respectively. Our results showed that infected seeds are thought to be the dominant mechanism responsible for the spreading of the pathogen in southern parts of Iran. In summary, it is essential to have local quarantine and prevent seed exchanges between geographical populations to restrict the dispersal of pathogen over long distances and provide certified seeds in Iran.

• The Korean Journal of Applied Statistics
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• v.25 no.4
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• pp.563-573
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• 2012

Various methods of analysis have been proposed to understand the gene-disease relation and gene-gene interaction effect for a disease through comparison of genotype in case-control study. In this study, we proposed the method to detect a genetic association and gene-gene interaction through the use of a network graph and centrality measures that are used in social network analysis. The applicability of the proposed method was studied through an analysis of real genetic data.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.5 no.1
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• pp.94-107
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• 2005

Prenatal diagnosis (PND) such as amniocentesis or chorionic villi sampling has been widely used in order to prevent the birth of babies with defects especially in families with single gene disorderor chromosomal abnormalities. Preimplantation genetic diagnosis (PGD) has already become an alternative to traditional PND. Indications for PGD have expanded beyond those practices in PND (chromosomal abnormalities, single gene defects), such as late-onset diseases with genetic predisposition, and HLA typing for stem cell transplantation to affected sibling. After in vitro fertilization, the biopsied blastomere from the embryo is analyzed for single gene defect or chromosomal abnormality. The unaffected embryos are selected for transfer to the uterine cavity. Therefore, PGD has an advantage over PND as it can avoid the risk of pregnancy termination. In this review, PGD will be introduced and application of PGD in inborn error metabolic disorder will be discussed.

• Communications for Statistical Applications and Methods
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• v.13 no.1
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• pp.167-175
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• 2006

It has long been recognized that cancer is a genetic disease. To find this measures of genetic instability, stain cells with chromosome specific probes using chromosome in-situ hybridization technique is adopted. Even though in-situ hybridization technique is powerful, truncation of nuclei often results in under-representation of chromosome copies in slides due to the sectioning of tissue blocks. Because of this problem we suggest three different methods to analyze the cervical cancer data set. We observe that genetic instability is an increasing function of histology and our suggested model is the best in detecting genetic instability of tumorigenesis processes.

• Genomics & Informatics
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• v.4 no.2
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• pp.51-56
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• 2006

In planning a genetic association study, it is necessary to determine the number of samples to be collected for the study in order to achieve sufficient power to detect the hypothesized effect. The case-control design is increasingly used for genetic association studies due to the simplicity of its design. We review the methods for the sample size and power calculations in case-control genetic association studies between a marker locus and a disease phenotype.

• Journal of Interdisciplinary Genomics
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• v.5 no.2
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• pp.24-28
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• 2023

Chromosomal microarray (CMA) is primarily recommended for detecting clinically significant copy number variants (CNVs) in the genetic diagnosis of developmental delay, intellectual disability, autism, and congenital malformations. Prenatal CMA is recommended when a fetus has major congenital malformations. The main principles of CMA can be divided into array comparative genomic hybridization and single-nucleotide polymorphism arrays. In the current CMA platforms, these two principles are combined, and detection of genetic abnormalities including CNVs and absence of heterozygosity is facilitated. In this review, I described practical assessment of CMA testing regarding to laboratory management of CMA, interpretation of CNVs, and special considerations for comprehensive genetic counseling.

• Korean Journal of Veterinary Research
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• v.49 no.3
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• pp.221-229
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• 2009

Foot-and-mouth disease (FMD) is the most contagious disease of mammals. The use of inactivated vaccine can be chosen to prevent or control FMD. However, vaccination against one serotype of FMDV doses not cross-protect against other serotypes and may not protect fully against some strains of the same serotype. Appropriate selection of vaccine strain is an important element in the control of FMD. The immunity of vaccine antigens should be matched against newly circulating viruses. The phylogenetic analysis of serotype Asia1 reported from China, Mongolia, North Korea and Russia since 2005 shows that they are all classified into genetic group V, but the strain, Asia1/Shamir (ISR/89) which have been used as a vaccine strain in Korea, is clustered into different genetic group. So, in this study the serological relationship between the isolate (Asia1/MOG/05; MOG) and the Shamir strain was determined by ELISA and virus neutralization test. Even though the matching value of the virus (MOG) against the vaccinated sera in target animals was not so high, the vaccinated animals elicited antibodies enough for protection after vaccinated once or twice. Conclusively, we suggest that the vaccine containing Asia1/Shamir antigen could protect the genetic group V strains circulating in East Asia currently if vaccinated twice or the more.

• The Plant Pathology Journal
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• v.35 no.6
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• pp.692-697
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• 2019

Agrobacterium rhizogenes-mediated transformation of sugar beet hairy roots expressing single-chain variable fragment (scFv) was exploited to evaluate the efficacy of four antibody-based constructs for interfering with the Beet necrotic yellow vein virus infection. The scFv specific to a major coat protein of virus, p21, was targeted to various cellular compartments including the cytosol (pIC and pICC constructs), apoplast (pIA), and mitochondrion (pIM). After mechanical virus inoculation, most of the hairy root clones expressing scFv in the cytosol displayed low virus titers while the majority of transgenic hairy root clones accumulated antibody in outer membrane of mitochondria or apoplast were infected. This hairy root system provided an efficient and rapid approach to initially investigating root disease resistance like rhizomania prior to transform whole recalcitrant plants such as sugar beet.