• The Journal of the Korean Society for Microbiology
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• v.19 no.1
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• pp.85-108
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• 1984

In order to study the relationship between resistance of tumor cells to anticancer drugs and immunologic cytotoxicity and their chromosome number, a line of cancer cells (NS-1) was exposed to BCNU and CCNU in vitro. Characteristics of the distribution of chromosome number of the survived cells were then comparatively analyzed. Effect of immune mediated cytotoxicity, i.e. complement and cell-mediated cytotoxicity, on the ploidy characteristics was observed in the same way. NS-1 cells were found to be a population of neoplastic cells of heterogeneity having 5 to 115 chromosomes per cell in metaphase. The majority of the cells were belong to the class of chromosome number 56 to 60 which were considered as the stem cell line. Dramatic changes in the distribution of chromosome number following drug treatment were not observed. However the range of chromosome distribution was slightly changed. Characteristics of chromosomal distribution of drug treated cells were not significantly varied by different doses of drug treated. Changed chromosomal distribution patterns of drug treated cells were reversible, especially the cells having 56 to 60 chromosomes recovered rapidly. Cells having 41-60 and 61-80 chromosomes among cells treated with BCNU and cells with 41-60 chromosomes after CCNU treatment were the major population which regenerated continuously. Following BCNU treatment cells having 61-80 chromosomes were not varied much whereas CCNU treatment affects the population in the same class. Chromosomal aberrations were significantly enhanced by BCNU and CCNU treatment. The frequency of chromosomal aberrations was greater in cells having more than 40 chromosomes compared with that in cells having less than 40 chromosomes. Changes in ploidy characteristics of the cells following complement mediated and cell mediated cytotoxicity were not significant. Therefore it was tentatively concluded that association of numerical distribution pattern of NS-1 cells with the response to the treatment used in this experiment was not recognized.

• Journal of Genetic Medicine
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• v.16 no.2
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• pp.76-80
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• 2019

About 15% to 20% of all clinically recognized pregnancies result in spontaneous abortion or miscarriage, and chromosomal anomalies can be identified in up to 50% of first trimester miscarriages. Chromosomal microarray analysis (CMA) is currently considered first-tier testing for detecting fetal chromosomal abnormalities and is supported by the absence of cell culture failure or erroneous results due to cell contamination in pregnancy loss. Triploidy is a lethal chromosome number abnormality characterized by an extra haploid set of chromosomes. Triploidy is one of the most common chromosomal aberrations in first trimester spontaneous abortions. Here, we report two cases of triploidy abortion that were not detected using array comparative genomic hybridization-based CMA. The aim of this report was to remind clinicians of the limitations of chromosomal testing and the misdiagnosis that can result from biased test selection.

• Journal of Genetic Medicine
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• v.5 no.2
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• pp.125-130
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• 2008

Propose: To analyze the indications and cytogenetic results of midtrimester amniocentesis. Material and Methods: This study reviewed 2,523 cases of midtrimester prenatal genetic amniocentesis performed at MizMedi Hospital between January 2000 and December 2007. Results: The most frequent indication for midtrimester amniocentesis was advanced maternal age (45.9%), followed by positive serum markers (29.9%). Chromosomal aberrations were diagnosed in 110 cases (4.4%), for which numerical aberration accounted for 38 cases (34.5%), structural aberration accounted for 65 cases (59.1%), and mosaicism accounted for 7 cases (6.4%). Among the autosomal aberrations, there were 20 cases of trisomy 21 and 8 cases of trisomy 18. With respect to structural aberrations, there were 14 cases of reciprocal translocation and 8 cases of robertsonian translocation. The frequencies of chromosomal aberrations according to the indication were highest in individuals with a family history of chromosome abnormality 14.0% (8/57) followed by previous congenital anomaly 5.9% (2/34). Conclusion: Midtrimester amniocentesis is an effective tool for prenatal diagnosis. Indications such as advanced maternal age, maternal serum markers, and ultrasound are important for predicting abnormal fetal karyotypes.

• Toxicological Research
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• v.11 no.2
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• pp.261-266
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• 1995

Age-related change in the frequency of spontaneous sister chromatid exchange (SCE) and chromosornal aberrations were investigated in bone marrow cells of accelerated senescence-resistant mice (SAM R1) and senescence accelerated ones (SAM P1). And the effect of chronic treatment of ginseng extract (Panax ginseng C.A. Meyer) on these chromosomal abnormalities was tested in SAM P1. SCE frequency in the cells was progressively increased with age in both mice, but it was consistently higher in SAM P1 than in SAM R1 at all corresponding age. Chromosomal aberrations were, however, not significantly changed with age except that it was slightly increased in only aged SAM P1. Interestingly, the rate of these genetic instabilities in SAM P1 was remarkably retarded by long-term administration of ginseng water extract (0.05% in drinking water). These results suggest that frequency of spontaneous SCE in bone marrow cells increase in parallel with senescence of the mice, and SAM P1 is in the condition of being more exposed than SAM R1 to DNA damaging factors. These also indicate that long-term treatment of ginseng may reduce the genetic damage.

• 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 Genetic Medicine
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• v.1 no.1
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• pp.11-16
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• 1997

A nine month old male child presenting degenerating right ulna (massive osteolysis) has been followed up for two years. The bone completely disappeared due to abscesses on the right forearm and without orthopedic or haematological complications. Repeated lymphocyte cultures showed somatic pairing (mostly chromosome pair 5), end to end association involving chromosome 14, 21, 21 and 16, and satellite enlargement in a high proportion of cells with an otherwise normal 46,XY karyotype. These observations are compared with 13 other types of orthopaedic patients, and we opine that cumulative picture of chromosomal aberrations appears to correspond with the present rare anomaly "Mono Ostolic Osteolysis" involving right ulna. None of the controls or any other orthopaedic anomaly studied hereunder exhibits this chromosomal picture.

• Journal of Plant Biology
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• v.38 no.4
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• pp.321-328
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• 1995

Calli obtained from basal disc explants of Allium victorialis var.platyphyllum wre grown in three kinds of nutrient media (MS, BDS, and B5), and the frequencies of mitotic index and the chromosomal aberrations were analysed. The mitotic index varied from 0.55% to 1.01% with respect to culture media and ages. The mitotic irregularities like micro-, bi- and multi-nuclei, chromosome bridge and laggards were noted in each types of calli. The chromosome number variations observed in metaphase stage were identified aneuploid and tetraploid. Structural variations such as dicentric chromosomes, centromere breakage and small chromosomes were observed. Relationship between basal medium and chromosomal variability was not observed in this study. But, in BDS medium, NAA and BA had a more effect on number variation than kinetin.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.3
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• pp.1119-1123
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• 2014

Head and neck cancers (HNC) are extremely complex disease types and it is likely that chromosomal instability is involved in the genetic mechanisms of its genesis. However, there is little information regarding the background levels of chromosome instability in these patients. In this pilot study, we examined spontaneous chromosome instability in short-term lymphocyte cultures (72 hours) from 72 study subjects - 36 newly diagnosed HNC squamous cell carcinoma patients and 36 healthy ethnic controls. We estimated chromosome instability (CIN) using chromosomal aberration (CA) analysis and nuclear level anomalies using the Cytokinesis Block Micronucleus Cytome Assay (CBMN Cyt Assay). The proliferation rates in cultures of peripheral blood lymphocytes (PBL) were assessed by calculating the Cytokinesis Block Proliferation Index (CBPI). Our results showed a significantly higher mean level of spontaneous chromosome type aberrations (CSAs), chromatid type aberration (CTAs) dicentric chromosomes (DIC) and chromosome aneuploidy (CANE UP) in patients (CSAs, $0.0294{\pm}0.0038$; CTAs, $0.0925{\pm}0.0060$; DICs, $0.0213{\pm}0.0003$; and CANE UPs, $0.0308{\pm}0.0035$) compared to controls (CSAs, $0.0005{\pm}0.0003$; CTAs, $0.0058{\pm}0.0015$; DICs, $0.0005{\pm}0.0003$; and CANEUPs, $0.0052{\pm}0.0013$) where p<0.001l. Similarly, spontaneous nuclear anomalies showed significantly higher mean level of micronuclei (MNi), nucleoplasmic bridges (NPBs) and nuclear buds (NBUDs) among cases (MNi, $0.01867{\pm}0.00108$; NPBs, $0.0156{\pm}0.00234$; NBUDs, $0.00658{\pm}0.00068$) compared with controls (MNi, $0.00027{\pm}0.00009$; NPBs, $0.00002{\pm}0.00002$; NBUDs, $0.00011{\pm}0.00007$).The evaluation of CBPI supported genomic instability in the peripheral blood lymphocytes showing a significantly lower proliferation rate in HNC patients ($1.525{\pm}0.005552$) compared to healthy subjects ($1.686{\pm}0.009520$) (p<0.0001). In conclusion, our preliminary results showed that visible spontaneous genomic instability and low rate proliferation in the cultured peripheral lymphocytes of solid tumors could be biomarkers to predict malignancy in early stages.

• The Korean Journal of Nuclear Medicine
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• v.33 no.2
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• pp.172-177
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• 1999

Purpose: The purpose of this study was to ascertain whether radiation adaptive response could be induced by Tc-99m-methylene diphosphonate (Tc-99m-MDP) in peripheral lymphocytes of patients undergoing bone scintigraphy. Materials and Methods: Lymphocytes from 22 patients (6 males, 16 females, mean age $50{\pm}14$ years) were collected before and after bone scintigraphy using 740 MBq Tc-99m-MDP Lymphocytes from 10 controls (6 males, 4 females, mean age $43{\pm}7$ years) were also collected. They were exposed to challenge dose of 2 Gy gamma rays using a cell irradiator. Number of ring-form and dicentric chromosomes per 600 cells (chromosomal aberrations) was counted under the light microscope. Results: Chromosomal aberrations in patients before bone scintigraphy ($385.1{\pm}30.5$) was not different from that of controls ($367.8{\pm}36.6$). However, chromosomal aberrations in patients after bone scintigraphy was significantly decreased to $192.6{\pm}22.1$ (p=0.0001). Conclusion: Low dose gamma-irradiation by Tc-99m-MDP used for bone scintigraphy induces a cytogenetic adaptive response in peripheral lymphocytes.

• 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.