• Journal of Environmental Health Sciences
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• 제24권2호
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• pp.88-99
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• 1998

This study was undertaken to find out the bio-effects due to be a radiation fractionated exposure. The experimental animals were divided into the control group and the radiation exposure groups of 20cGy, 40cGy and 80cGy with 220 male Sprague-Dawley rats at 6 weeks old. The radiation exposure groups were fractionated exposed from each 20cGy, 40cGy and 80cGy for every 5 days. The chromosome aberrations, the frequency of SCE, the changes of body weight, hematological values and enzyme activities were investigated for the fractionating exposure times and the time after fractionated exposure. The results were summarized as follows 1. The body weight of the radiation exposure groups were significantly decreased compared with control group according to the increasing fractionated exposure times, and it was the lowest values at the immediately after the end of the fractionating exposed, but it was recovered with the level of control group at 3rd weeks gradually increased 1st week after fractionated exposure. 2. The values of WBC, RBC, Hb and Hct in the radiation exposure groups were significantly decreased than those the control group, but the values of GOT, GPT, ALP, and LDH in the radiation exposure groups were significantly increased than those of the control group. 3. The frequency of chromosomal aberration were increased according to the increasing fractionated exposure dose, and it showed the highest at 5th days after fractionated exposed. The types of chromosomal aberration were occurred such as a numerical abnormality, deletion, break and duplication, it was not recovered immediately and maintained high frequency than the control group. 4. The frequency of SCE were significantly increased according to the increasing fractionated exposure dose in 20cGy, 40cGy and 80cGy groups. But it was recovered the level of control group at 7th days after fractionated exposure. According to the above results, this study could confirm that the frequency of chromosomal aberration and SCE were increased with fractionated exposure dose, the other hand, the changes of body weight, hematological values and enzyme activity values were significantly affected according to the increasing fractionated exposure dose.

• Environmental Mutagens and Carcinogens
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• 제18권2호
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• pp.71-76
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• 1998

Exposure to environmental toxicants can cause cellular problems including the interference of DNA repair processes which may lead to the development of cancer. The existence of toxicant-induced DNA repair abnormality was investigated using mice exposed in vivo to genotoxic chemicals and then challenging their exposed lymphocytes in vitro with bleomycin. The repair of bleomycin-induced DNA damage as estimated by the frequency of chromosome aberrations was determined. Our data indicates that the observed aberration frequencies after in vivo exposure to N-methyl-N'-nitro-N-nitnsoguanidine (MNNG) and in vitro challenge with bleomycin are consistently higher than expected. The enhanced response is not due to the induction of chromosome damage by 25 or 50 mg/kg MNNG since the chemical did not cause chromosome aberrations in lymphocytes of these mice. The observed response after the combined exposure to benzo[a]pyrene (BP) and bleomycin was significantly lower than expected with low in vivo doses of BP (50 mg/kg) and then significantly higher than expected with the high doses (200 mg/kg). We interpret our data to indicate that in vivo exposure to genotoxic agents can cause abnormal DNA repair activities. The response is, however, independent of the clastogenic activities of the inducing chemicals, but dependent upon the inducing agents and on the exposure doses.

• Journal of Genetic Medicine
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• 제8권2호
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• pp.135-138
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• 2011

The authors of the present study report the prenatal detection of a chromosomal abnormality with additional satellites on the distal short arm of chromosome 8. A 35-year-old woman was referred for amniocentesis because of her advanced maternal age and positive result for maternal serum screening test. Cytogenetic analysis of cultured amniocytes showed a satellite 8p chromosome. The satellite 8p chromosome was positive for nucleolus organizer region (NOR) staining. The parents' karyotypes were normal. Fluorescence in situ hybridization (FISH) study for metaphases of fetal amniocytes revealed a cryptic translocation of chromosomes 8p and 22p. The fetal karyotype was described as 46,XY,8ps.ish t(8;22)(p23.3;p11.2) (D8S504-;D8S504+)dn. The parents decided to continue the pregnancy and a phenotypically normal boy was born at 38 weeks of gestation. In case of de novo terminal NORs detected prenatally, more accurate cytogenetic and molecular analysis should be performed in order to rule out cryptic chromosomal rearrangement among other chromosomes.

• Korean Journal of Biological Psychiatry
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• 제10권2호
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• pp.97-106
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• 2003

Criticisms about amyloid cascade hypothesis of Alzheimer's disease(AD) are based on the findings, first, that the degree of dementia does not correlate with the number of plaques, and second, that the neurofibrillary tangle formation seems to predate plaque formation. In addition, neurofibrillary tangle counts correlate well with the degree of cognitive impairment. These findings suggest the independent importance of tau abnormality in AD research which is involved in the neurofibrillary tangle formation. Recently, tau pathology without amyloid deposits and mutations in tau protein gene were reported to be the major pathogenic mechanism in Pick's disease, progressive supranuclear palsy, corticobasal degeneration and FTDP-17(frontotemporal dementia and parkinsonism linked with chromosome 17). These data suggest that understanding the causes and consequences of tau dysfunction might give new clinical and therapeutic solutions to many known tauopathies.

• Clinical and Experimental Pediatrics
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• 제50권9호
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• pp.875-881
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• 2007

Purpose : Chromosome analysis is important in genetic study and genetic counseling. This study was performed to evaluate the type and incidence of chromosome abnormalities in a single hospital for 25 years. Methods : Chromosome analyses were performed on peripheral blood lymphocytes, obtained from 4,856 patients with suspected chromosomal aberrations, referred to cytogenetic laboratory in Department of Pediatrics, Kyungpook National University Hospital from May 1981 to October 2005. Results : We analyzed 4,567 cases. Children were 3,014 cases (66.0%) and adult were 1,553 cases (34.0 %). The most common purpose of the chromosomal analysis was growth and developmental abnormality in children and infertility in adults. Total chromosomal aberration rate was 16.9% (770/4,567). Among those cases, the numerical abnormalities were 12.2% (558 cases), the structural abnormalities were 4.1% (187 cases), and others were 0.5% (25 cases). The relative frequencies of autosomal abnormalities were 6.4% (294 cases) in Down syndrome; 0.2% (7 cases) in Edwards syndrome; 0.1% (4 cases) in Patau syndrome; 0.2% (10 cases) in other abnormalities, of sex chromosome, 2.9% (131 cases) in Klinefelter syndrome; 2.2% (99 cases) in Turner syndrome; 0.2% (8 cases) in 47, XXX; 0.1% (3 cases) in 47, XYY. Among the structural abnormalities, translocation was 1.8% (84 cases), inversion was 0.8% (37 cases), deletion was 0.4% (17 cases), and insertion was 0.3% (13 cases), in order of frequency. Conclusion : In this study, the type, incidence and distribution of cytogenetic abnormalities by karyotype were reviewed. We hope that our study could be used as a basic information on the diagnosis, treatment and genetic counseling for chromosome abnormalities in Korea.

• The Journal of Korea Assosiation for Disability and Oral Health
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• 제3권2호
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• pp.91-96
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• 2007

Cleidocranial dysplasia(CCD) is a congenital genetic disorder of skeletal and dental abnormality, which is mesodermal dysfunction influencing many tissues and organs, CCD was reported by Morand at first in 1766, And later, it was named cleidocranial dysostosis, cleidocranial dysplasia, Marie-sainton syndrome and mutational dysostosis. It is autosomal dominant disorder and there is no prevalence between man and woman. Until recent days, mutation of Runx2 in chromosome6p21 has known to be a main factor causing CCD. The specific clinical features of CCD are aplasia or hypoplasia of one or both clavicles and incomplete closing of fontanels and cranial sutures. Dental manifestations include retention of deciduous teeth, delayed eruption of permanent teeth, supernumerary teeth and cyst. Because there is no mental retardation and physical disability in CCD patients, they usually can not recognize their dental abnormality by the time of abolescence. So, after exfoliation of deciduous teeth, they usually live with edentulous status. It usually drives CCD patients to suffer from esthetic and functional problem. For this reason, CCD patients must be early diagnosed and improved in their appearance as well as masticatory function. So, surgical removal of supernumerary teeth and orthodontic eruption of the natural permanent teeth at adequate time is necessary.

• Journal of Embryo Transfer
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• 제17권1호
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• pp.13-21
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• 2002

Intracytoplasmic Sperm Injection (ICSI) has been widely used fur both human infertility and basic research. However, the high incidence of chromosomal abnormality is severe problem in cattle. Various oocyte activation stimuli, therefore, were compared by assessment of developmental capacity and chromosome analysis. Motile sperm selected by Percoll-density gradient were treated with 5 mM dithiothreitol (DTT) and injected into an oocyte matured fur 24 h. Eggs were then allocated into 5 treatment groups. Group 1 (control), sperm injection was performed without any further activation stimuli to the oocytes. Group 2 (handled control), sham injection was performed without sperm. In Group 3, oocytes exposed to 5 (M ionomycin for 5 min at 39(C. Group 4. ionomycine + 1.9 mM demethylaminopurine (DMAP, 3 h) and Group 5, ionomycine + 3 h culture in Ml99 + DMAP. Cleavage and the later development rate in Groups 1, 2 and 3 were significantly (P<0.05) lower than those in Groups 4 and 5. The incidence of chromosomal abnormality in the embryos treated directly with DMAP after ionomycine was relatively higher than in the embryo of Group 3 h, delayed DMAP treatment. From this results DMAP caused to be arrested the release of the 2nd polar body, resulting in changes of chromosomal pattern. Therefore, the time interval between ionomycin and DMAP is a crucial role in bovine ICSI.

• Asian Pacific Journal of Cancer Prevention
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• 제16권16호
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• pp.7343-7350
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• 2015

Genetic changes associated with acute lymphoblastic leukemia (ALL) provide very important diagnostic and prognostic information with a direct impact on patient management. Detection of chromosome abnormalities by conventional cytogenetics combined with fluorescence in situ hybridization (FISH) play a very significant role in assessing risk stratification. Identification of specific chromosome abnormalities has led to the recognition of genetic subgroups based on reciprocal translocations, deletions and modal number in B or T-cell ALL. In the last twelve years 102 newly diagnosed childhood/adult ALL bone marrow samples were analysed for chromosomal abnormalities with conventional G-banding, and FISH (selected cases) using specific probes in our hospital. G-banded karyotype analysis found clonal numerical and/or structural chromosomal aberrations in 74.2% of cases. Patients with pseudodiploidy represented the most frequent group (38.7%) followed by high hyperdiploidy group (12.9%), low hyperdiploidy group (9.7%), hypodiploidy (<46) group (9.7%) and high hypertriploidy group (3.2%). The highest observed numerical chromosomal alteration was high hyperdiploidy (12.9%) with abnormal karyotypes while abnormal 12p (7.5%) was the highest observed structural abnormality followed by t(12;21)(p13.3;q22) resulting in ETV6/RUNX1 fusion (5.4%) and t(9;22)(q34.1;q11.2) resulting in BCR/ABL1 fusion (4.3%). Interestingly, we identified 16 cases with rare and complex structural aberrations. Application of the FISH technique produced major improvements in the sensitivity and accuracy of cytogenetic analysis with ALL patients. In conclusion it confirmed heterogeneity of ALL by identifying various recurrent chromosomal aberrations along with non-specific rearrangements and their association with specific immunophenotypes. This study pool is representative of paediatric/adult ALL patients in Oman.

• Journal of Genetic Medicine
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• 제16권1호
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• pp.10-14
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• 2019

Purpose: The aim of this study was to investigate the clinicopathological features of premature ovarian insufficiency (POI) associated with chromosomal abnormalities. Materials and Methods: This was a retrospective study of POI patients with chromosomal abnormalities diagnosed between January 2009 and December 2017. The definition of POI is based on hypergonadotropinism of 40 or greater in follicle stimulating hormone (FSH) measurements at age 40 years or less. FSH was measured twice at least 4 weeks apart. Karyotyping using peripheral blood for chromosomal testing was conducted in all patients diagnosed with POI. We analyzed the clinical characteristics and genetic causes of patients who were diagnosed with POI. Results: Forty patients were diagnosed with POI including 9 (22.5%) with identified chromosomal abnormalities. The mean age at diagnosis was $23.1{\pm}7.8years$ (ranging between 14 and 39). Three patients did not experience menarche. The presenting complaints were short stature in one case, one case of amenorrhea with ambiguous external genitals, one case of infertility, and six related to menstruation such as oligomenorrhea or irregular rhythm. Turner syndrome was diagnosed in four cases, Xq deletion in one case, trisomy X in two cases, and 46,XY disorder of sexual development in two other patients. Conclusion: Patients diagnosed with POI carrying the same type of chromosomal abnormality manifest different phenotypes. The management protocol also needs to be changed depending on the diagnosis. A karyotype is indicated for accurate diagnosis and proper management of POI in patients, with or without stigmata of chromosomal abnormalities.

• Korean Journal of Head & Neck Oncology
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• 제9권1호
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• pp.25-32
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• 1993

The nodular hyperplasia of the thyroid is a common thyriod disease. Nodular hyperplasia does rarely progress to thyroid cancer. The differentiation of a nodular hyperplasia from a neoplasm may be simple or difficult, both clinically and anatomically. The papillary carcinoma of the thyroid is the most common type of thyroid malignancies. There were few studies about cytogenetic observation in thyroid cancer. But only one case of banding observation in nodular hyperplasia have been reported. In order to compare the chromosomal changes in the thyroid cancer and the noncancerous thyroid disease, we performed cytogenetic analysis in two papillary carcinoma and two nodular hyperplasia after cell culture. The chromosomal pattern of the nodular hyperplasia found was very heterogenous but no clonal abnormaly in both cases was observed. Case I : A modal chromosomal number was in 42-46 range. Chromosome 8, 19, 21. 22 were commonly lost. 9 structural anomalities among 51 analysed cells were observed but they were not clonal. Case II: A modal chromosomal number was 43. Chromosome 17 and 19 were commonly lossed. Common cytogenetic characters of this two nodular hyperplasia are hypodiploidity and very heterogenous chromosomal pattern. The result about the papillary carcinoma are as follow. In one case some numerical and structural chromosomal changes were observed. But they were not clonal abnormality. In another case the chromosomal pattern found was very heterogenous with a clonal abnormality of del(11)(q23). The modal number was 46. The del(11)(q23) a chromosomal change in papillary carcinoma of the thyroid have previously been reported(Eva Olah et al. 1989). We suggest that 11q deletion may be important role to pathogenesis of papillary carcinoma of the thyroid. According to this results, we could not find out specific differences about chromosomal changes and any relationship between the papillary carcinoma and the nodular hyperplasia.