• Clinical and Experimental Reproductive Medicine
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• v.42 no.2
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• pp.58-61
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• 2015

Objective: The XIST gene is considered to be an attractive candidate gene for skewed X-chromosome inactivation and a possible cause of primary ovarian insufficiency (POI). The purpose of this study was to investigate whether the XIST gene promoter mutation is associated with idiopathic POI in a sample of the Korean population. Methods: Subjects consisted of 102 idiopathic POI patients and 113 healthy controls with normal menstrual cycles. Patients with the following known causes of POI were excluded in advance: cytogenetic abnormalities, prior chemo- or radiotherapy, or prior bilateral oophorectomy. Genotyping was performed using polymerase chain reaction-restriction fragment length polymorphism analysis. Results: The mean age of onset of ovarian insufficiency was $28.7{\pm}8.5years$ and the mean values of serum luteinizing and follicle-stimulating hormones and estradiol in the POI group were $31.4{\pm}18.2mIU/mL$, $74.5{\pm}41.1mIU/mL$, and $30.5{\pm}36.7pg/mL$, respectively. We found no cytosine to guanine (C43G) variation in the XIST gene in both POI patients and controls. Conclusion: The C43G mutation in the promoter region of the XIST gene was not present in the Korean patients with idiopathic POI in our study, in contrast to our expectation, suggesting that the role of XIST in the pathogenesis of POI is not yet clear.

• Korean Journal of Clinical Pharmacy
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• v.19 no.2
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• pp.153-158
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• 2009

Background: Patients with chronic myeloid leukemia(CML) have different health status according to their disease conditions such as chronic phase(CP), accelerated phase(AP), blast crisis(BC), stage with MCyR(Major Cytogenetic Response); therefore, every patient has different quality of life related to their disease condition. Objectives: To measure the quality of life, this study compared and analyzed the utility weight in patients with CML. This study also evaluated the utility weight in order to view comparisons between the quality of life in a patient with CML to a patient with diabetes, which is a representative chronic disease. Methods: The disease scenario described 5 symptoms of the CP, AP, BC of the CML, the CML which gets the MCyR and the diabetes. Utility weight was developed using the EQ-5D method. All statistical data were analyzed by STATA 10.0 Results: 57 nurses(95%) out of 60 answered the questionnaire. In CP, the utility weight was 0.7946. In AP, it was 0.5301. and in BC, it was -0.2793. Survey data indicate that the worse the condition of a disease, the lower the utility weight. In case of the CML which gets the MCyR, the result was 0.7731(95% CI : 0.7384 - 0.8079). The general diabetes which has no complicating disease, the utility weight was 0.7481(95% CI : 0.6983 - 0.7978). Based on the result, it is evident that those with MCyR are not significantly different from people with general diabetes (p=0.4096) in views of the quality of life.

• Journal of Genetic Medicine
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• v.2 no.2
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• pp.71-77
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• 1998

Comparative genomic hybridization (CGH) can now be applied to detect the origin of extra or missing chromosomal material in cases with common unbalanced aberrations and in prenatal investigations. This method has been used in 13 cases of fetal samples for this study; 3 for amniocytes, 2 for cord blood and 8 for abortus tissues. These samples were previously subjected to GTG-banding. Our study showed aneuploidy in 8 cases, and partial monosomy, partial trisomy or marker chromosome in the remaining 5. The CGH disclosed further small genetic imbalances in 4 of all 13 cases: a prenatal sample showing del(20)(q13) by GTG confirmed a loss of the segment 20p13-pter by CGH; a marker chromosome manifested normal CGH profile; chromosome der(?)(?;15) found in an abortus sample by GTG turned out to be a loss of 15pter-q14 (partial monosomy) and a gain of 10pter-q22 (partial trisomy); the der(15) shown by GTG represented partial trisomy of 3q24-qter. These findings show that CGH is very useful and efficient for cytogenetic investigations of clinical cases.

• Journal of Genetic Medicine
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• v.11 no.1
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• pp.16-21
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• 2014

A 31-year-old woman, who was pregnant with twins, underwent chorionic villus sampling because of increased nuchal translucency in one of the fetuses. Cytogenetic analysis showed a normal karyotype in the fetus with increased nuchal translucency. However, the other fetus, with normal nuchal translucency, had a derivative X chromosome (der(X)). For further analysis, fluorescence in situ hybridization (FISH) and additional molecular studies including fragile X analysis were performed. FISH analysis confirmed that the Y chromosome was the origin of extra segment of the der(X). The X-chromosome breakpoint was determined to be at Xq27 by FMR1 CGG repeat analysis, and the Y-chromosome breakpoint was determined to be at Yq11.23 by the Y chromosome microdeletion study. To predict the fetal outcome, the X-inactivation pattern was examined, and it revealed non-random X inactivation of the der(X). To the best of our knowledge, the identification of an unbalanced Xq;Yq translocation at prenatal diagnosis has never been reported. This study was performed to identify precise breakpoints and the X-inactivation pattern as well as to provide the parents with appropriate genetic counseling.

• Journal of Ginseng Research
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• v.40 no.2
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• pp.176-184
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• 2016

Background: Wild ginseng, Panax ginseng Meyer, is an endangered species of medicinal plants. In the present study, we analyzed variations within the ribosomal DNA (rDNA) cluster to gain insight into the genetic diversity of the Oriental ginseng, P. ginseng, at artificial plant cultivation. Methods: The roots of wild P. ginseng plants were sampled from a nonprotected natural population of the Russian Far East. The slides were prepared from leaf tissues using the squash technique for cytogenetic analysis. The 18S rDNA sequences were cloned and sequenced. The distribution of nucleotide diversity, recombination events, and interspecific phylogenies for the total 18S rDNA sequence data set was also examined. Results: In mesophyll cells, mononucleolar nuclei were estimated to be dominant (75.7%), while the remaining nuclei contained two to four nucleoli. Among the analyzed 18S rDNA clones, 20% were identical to the 18S rDNA sequence of P. ginseng from Japan, and other clones differed in one to six substitutions. The nucleotide polymorphism was more expressed at the positions 440-640 bp, and distributed in variable regions, expansion segments, and conservative elements of core structure. The phylogenetic analysis confirmed conspecificity of ginseng plants cultivated in different regions, with two fixed mutations between P. ginseng and other species. Conclusion: This study identified the evidences of the intragenomic nucleotide polymorphism in the 18S rDNA sequences of P. ginseng. These data suggest that, in cultivated plants, the observed genome instability may influence the synthesis of biologically active compounds, which are widely used in traditional medicine.

• Clinical and Experimental Pediatrics
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• v.50 no.7
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• pp.601-605
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• 2007

The cure rate of acute lymphoblastic leukemia (ALL) in children dramatically improved over past 5 decades from zero to about 80%. The main cause of improvement is owing to the development of chemotherapy by multicenter clinical trial of large study groups with the understanding of leukemia biology. Recently, pediatric ALL protocols were applied to the treatment of adolescent and even adult ALL patients. For nearly 30 years, clinical factors have been used to risk-stratify therapy for children with ALL, so that the most intensive therapies are reserved for those patients at the highest risk of relapse. The risk groups of ALL are divided as standard- (low- plus intermediate-), high- and very high-risk group according to the prognostic factors, and treatment results improved by this risk based treatment. The factors used to risk-stratify therapy include age, gender, presenting leukocyte count, immunophenotype, cytogenetic aberrations including ploidy and translocations, and initial response after 1 to 2 weeks of therapy. But treatment efficacy is the most important determinant and can abolish the clinical significance of most, if at all, prognostic factors. Today, in the era of intensive, multiagent regimens, there is increasing evidence that we have reached the limits of prognostic significance of currently applied clinical risk factors in childhood ALL. As the cure rate of ALL is about 80%, introducing new prognostic factors such as new molecular prognostic markers, new methods of assessment about minimal residual disease, and pharmacogenetic study, with the development of stem cell transplantation and molecular targeted therapy are needed to cure residual 20% of childhood ALL patients without short and long term complications.

• Development and Reproduction
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• v.21 no.4
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• pp.425-434
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• 2017

Polyploidy is occurred by the process of endomitosis or cell fusion and usually represent terminally differentiated stage. Their effects on the developmental process were mainly investigated in the amphibian and fishes, and only observed in some rodents as mammalian model. Recently, we have established tetraploidy somatic cell nuclear transfer-derived human embryonic stem cells (SCNT-hESCs) and examined whether it could be available as a research model for the polyploidy cells existed in the human tissues. Two tetraploid hESC lines were artificially acquired by reintroduction of remained 1st polar body during the establishment of SCNT-hESC using MII oocytes obtained from female donors and dermal fibroblasts (DFB) from a 35-year-old adult male. These tetraploid SCNT-hESC lines (CHA-NT1 and CHA-NT3) were identified by the cytogenetic genotyping (91, XXXY,-6, t[2:6] / 92,XXXY,-12,+20) and have shown of indefinite proliferation, but slow speed when compared to euploid SCNT-hESCs. Using the eight Short Tendem Repeat (STR) markers, it was confirmed that both CHA-NT1 and CHA-NT3 lines contain both nuclear and oocyte donor genotypes. These hESCs expressed pluripotency markers and their embryoid bodies (EB) also expressed markers of the three embryonic germ layers and formed teratoma after transplantation into immune deficient mice. This study showed that tetraploidy does not affect the activities of proliferation and differentiation in SCNT-hESC. Therefore, tetraploid hESC lines established after SCNT procedure could be differentiated into various types of cells and could be an useful model for the study of the polyploidy cells in the tissues.

• 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.

• Asian-Australasian Journal of Animal Sciences
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• v.19 no.11
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• pp.1574-1579
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• 2006

This study was performed to determine the developmental potentials of nuclear transfer (NT) embryos using life-span extended cells transfected with a foreign gene as donor cells. A life-span extended bovine embryonic fibroblast cell line was transfected with an expression vector in which the human type II collagen (BOMAR) and ear fibroblasts were used as a donor cell. Cytogenetic analysis was performed to analyze the chromosomal abnormality of donor cells. The fusion rate of 1.8 kV/cm for $15{\mu}sec$ given twice was significantly higher than that of other groups (p<0.05) and the embryos lysed were significantly higher after 1.8 kV/cm for $20{\mu}sec$ given once compared to other groups (p<0.01). The blastocyst development in the ear cell group was statistically significant compared to both BOMAR groups (p<0.01). Both BOMAR groups cultured more than 40 passages (>40 passages) had a lower number of chromosomes; however, fresh granulosa cell (GC) and BOMAR groups cultured less than 20 passages had normal chromosome numbers. Both >40 passages BOMAR groups had numerous obscure debris in metaphase spreads. The transfected foreign gene was expressed in all BOMAR groups, but not in the GC group. Based on these results, the lower developmental potential of NT embryos using life-span extended donor cells transfected with a foreign gene might be a cause of chromosomal abnormality in donor cells.

• Toxicological Research
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• v.14 no.3
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• pp.453-457
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• 1998

In order to evaluate the mutagenic potential of Intralipidos produced by Greenmate cooperation. We performed Salmonella typhimurium reversion assay, chromosomal aberration test on chinese hamster ovarian cells and in vivo micronucleus assay using mouse bone marrow cells. In the reverse mutation test using Salmonella typhimurium TA98 and TA100, Intralipidos did not increase the number of revertant at any of the concentration tested in this study. Intralipidos did not increase the number of cells having structural or numberical chromosome aberration in cytogenetic test. In mouse micronucleus test, no significant increase were observed in the occurrence of micornucleated polychromatic erythrocytes in ICR male mice intraperitoneally administered with Intralipidos. These results indicate that Intralipidos has no genetic toxicity under these experimental conditions.