• 제목/요약/키워드: cytogenetic

검색결과 298건 처리시간 0.023초

Tissue distribution, excretion and effects on genotoxicity of tritium following oral administration to rats

  • Lee, Jei Ha;Kim, Cha Soon;Choi, Soo Im;Kim, Rae-Kwon;Kim, Ji Young;Nam, Seon Young;Jin, Young Woo;Kim, In Gyu
    • Nuclear Engineering and Technology
    • /
    • 제51권1호
    • /
    • pp.303-309
    • /
    • 2019
  • Tritium is an important nuclide that must be monitored for radiation safety management. In this study, HTO was orally administered to rats at the level of 37 kBq ($1{\mu}Ci$) or 370 kBq ($10{\mu}Ci$) to examine tissue distribution and excretion levels. After sacrifice, wet and dry tissue samples were weighed and analyzed for tissue free-water tritium (TFWT) and organically bound tritium (OBT). The mean tissue concentrations of TFWT (OBT) were 30.9 (17.8) and 4.4 (8.1) Bq/g on days 7 and 13 at the 37 kBq level and 30.8 (64.6) Bq/g on day 17 at the 370 kBq level. To assess the cytogenetic damage due to tritium exposure, a cytokinesis-blocked micronucleus (MN) assay was performed in blood samples from rats exposed to HTO for 14 and 21 days after oral administration. There was no significant difference in the MN frequencies between the control and exposed rats.

A Prenatal Case of Paracentric Inversion of Chromosome 18, inv(18)(q21.1q22)

  • An, Gye-Hyeong;Kim, Moon Young;Kim, Min Hyoung;Kim, Yun Young;Choi, Kyu Hong;Kwak, Dong Wook;Park, So Yeon;Lee, Bom Yi;Park, Ju Yeon;Ryu, Hyun Mee
    • Journal of Genetic Medicine
    • /
    • 제9권2호
    • /
    • pp.101-103
    • /
    • 2012
  • Paracentric inversion of chromosome 18 is a rare cytogenetic abnormality. The vast majority of paracentric inversions are harmless and the offspring of paracentric inversion carriers have only slightly elevated risks for unbalanced karyotypes. However, various clinical phenotypes are seen due to breakpoint variation or recombination. We report a prenatally detected case of familial paracentric inversion of chromosome 18, inv(18)(q21.1q22), with normal clinical features.

Development of Bovine Nuclear Transfer Embryos Using Life-span Extended Donor Cells Transfected with Foreign Gene

  • Hwang, Seongsoo;Choi, Eun Joo;You, Seungkwon;Choi, Yun-Jaie;Min, Kwan-Sik;Yoon, Jong-Taek
    • Asian-Australasian Journal of Animal Sciences
    • /
    • 제19권11호
    • /
    • pp.1574-1579
    • /
    • 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.

Application of array comparative genomic hybridization in Korean children under 6 years old with global developmental delay

  • Lee, Kyung Yeon;Shin, Eunsim
    • Clinical and Experimental Pediatrics
    • /
    • 제60권9호
    • /
    • pp.282-289
    • /
    • 2017
  • Purpose: Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH) and the clinical features of 27 patients with global developmental delay. Methods: We included 27 children who fulfilled the following criteria: Korean children under 6 years with global developmental delay; children who had at least one or more physical or neurological problem other than global developmental delay; and patients in whom both array CGH and G-banded karyotyping tests were performed. Results: Fifteen male and 12 female patients with a mean age of $29.3{\pm}17.6months$ were included. The most common physical and neurological abnormalities were facial dysmorphism (n=16), epilepsy (n=7), and hypotonia (n=7). Pathogenic copy number variation results were observed in 4 patients (14.8%): 18.73 Mb dup(2)(p24.2p25.3) and 1.62 Mb del(20p13) (patient 1); 22.31 Mb dup(2) (p22.3p25.1) and 4.01 Mb dup(2)(p21p22.1) (patient 2); 12.08 Mb del(4)(q22.1q24) (patient 3); and 1.19 Mb del(1)(q21.1) (patient 4). One patient (3.7%) displayed a variant of uncertain significance. Four patients (14.8%) displayed discordance between G-banded karyotyping and array CGH results. Among patients with normal array CGH results, 4 (16%) revealed brain anomalies such as schizencephaly and hydranencephaly. One patient was diagnosed with Rett syndrome and one with $M{\ddot{o}}bius$ syndrome. Conclusion: As chromosomal microarray can elucidate the cause of previously unexplained developmental delay, it should be considered as a first-tier cytogenetic diagnostic test for children with unexplained developmental delay.

FISH Karyotype Analysis of Four Wild Cucurbitaceae Species Using 5S and 45S rDNA Probes and the Emergence of New Polyploids in Trichosanthes kirilowii Maxim

  • Waminal, Nomar Espinosa;Kim, Hyun Hee
    • 원예과학기술지
    • /
    • 제33권6호
    • /
    • pp.869-876
    • /
    • 2015
  • Wild relative species of domesticated crops are useful genetic resources for improving agronomic traits. Cytogenetic investigations based on chromosome composition provide insight into basic genetic and genomic characteristics of a species that can be exploited in a breeding program. Here, we used FISH analysis to characterize the ploidy level, chromosome constitution, and genomic distribution o f 5S and 4 5S r ibosomal DNA (rDNA) in four wild Cucurbitaceae species, namely, Citrullus lanatus (Thunb.) Mansf. var. citroides L. H. Bailey (2n = 22), Melothria japonica Maxim. (2n = 22), Sicyos angulatus L. (2n = 24), and Trichosanthes kirilowii Maxim. (2n = 66, 88, 110 cytotypes), collected in different areas of Korea. All species were diploids, except for T. kirilowii, which included hexa-, octa-, and decaploid cytotypes (2n = 6x = 66, 8x = 88, and 10x = 110). All species have small metaphase chromosomes in the range of $2-5{\mu}m$. The 45S rDNA signals were localized distally compared to the 5S rDNA. C. lanatus var. citroides and M. japonica showed one and two loci of 45S and 5S rDNA, respectively, with co-localization of rDNA signals in one M. japonica chromosome. S. angulatus showed two co-localized signals of 5S and 45S rDNA loci. The hexaploid T. kirilowii cytotype showed five signals each for 45S and 5S rDNA, with three being co-localized. This is the first report of hexaploid and decaploid cytotypes in T. kirilowii. These results will be useful in future Cucurbitaceae breeding programs.

Intralipidos에 대한 변이원성시험 (Mutagenecity Test of Intralipidos)

  • 정지윤;이원우;임종희;남정석;제정환;이광훈;강병철;이병희;박재학;이영순
    • Toxicological Research
    • /
    • 제14권3호
    • /
    • pp.453-457
    • /
    • 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.

  • PDF

Thresholds of Genotoxic and Non-Genotoxic Carcinogens

  • Nohmi, Takehiko
    • Toxicological Research
    • /
    • 제34권4호
    • /
    • pp.281-290
    • /
    • 2018
  • Exposure to chemical agents is an inevitable consequence of modern society; some of these agents are hazardous to human health. The effects of chemical carcinogens are of great concern in many countries, and international organizations, such as the World Health Organization, have established guidelines for the regulation of these chemicals. Carcinogens are currently categorized into two classes, genotoxic and non-genotoxic carcinogens, which are subject to different regulatory policies. Genotoxic carcinogens are chemicals that exert carcinogenicity via the induction of mutations. Owing to their DNA interaction properties, there is thought to be no safe exposure threshold or dose. Genotoxic carcinogens are regulated under the assumption that they pose a cancer risk for humans, even at very low doses. In contrast, non-genotoxic carcinogens, which induce cancer through mechanisms other than mutations, such as hormonal effects, cytotoxicity, cell proliferation, or epigenetic changes, are thought to have a safe exposure threshold or dose; thus, their use in society is permitted unless the exposure or intake level would exceed the threshold. Genotoxicity assays are an important method to distinguish the two classes of carcinogens. However, some carcinogens have negative results in in vitro bacterial mutation assays, but yield positive results in the in vivo transgenic rodent gene mutation assay. Non-DNA damage, such as spindle poison or topoisomerase inhibition, often leads to positive results in cytogenetic genotoxicity assays such as the chromosome aberration assay or the micronucleus assay. Therefore, mechanistic considerations of tumor induction, based on the results of the genotoxicity assays, are necessary to distinguish genotoxic and non-genotoxic carcinogens. In this review, the concept of threshold of toxicological concern is introduced and the potential risk from multiple exposures to low doses of genotoxic carcinogens is also discussed.

Benzene and Leukemia: The 0.1 ppm ACGIH Proposed Threshold Limit Value for Benzene

  • Infante Peter F.
    • 대한예방의학회:학술대회논문집
    • /
    • 대한예방의학회 1994년도 교수 연수회(환경)
    • /
    • pp.681-691
    • /
    • 1994
  • The American Conference of Governmental Industrial Hygienists (ACGIH) has proposed a threshold limit value (TLV) for benzene of 0.1 ppm. Individuals representing the American Petroleum Institute (API)and the Chemical Manufacturers Association (CMA) have argued that 1) the risk assessment by Rinsky .et al. which ACGIH partially relied upon for its proposed TLV overestimates the risk; however, at the exposures levels of interest - (e.g., 0.1 to 1.0 ppm) for establishing a benzene TLV, the Rinsky et al. assessment provides lower estimates of leukemia risk than most others; 2) ACGIH should not use the Dow study for direct observational evidence of leukemia risk associated with low-level benzene exposure because of confounding exposure; however, it is unlikely that confounding exposures played a role in the excess of leukemia demonstrated in the study, and the Dow cohort was exposed to an average benzene concentration of about 5.5 ppm benzene for 7.11 years (31:1.5 ppm-years), while some of the individuals in the study who died from leukemia were exposed to an average of only 1.0 ppm without the opportunity for highpeak exposures; 3) the Occupational Safety and Health Administration (OSHA) established an 8-hour time-weighted average (TWA) of 1.0 ppm in 1987, and there is no new evidence that would justify reducing the TWA below that level; however, the OSHA TWA of 1.0 ppm was based on economic feasibility and the level of excess risk remaining at 1.0 ppm, i.e., 10 excess leukemia deaths per 1000 workers over an occupational lifetime (45 years) according to OSHA's preferred estimate leaves behind I risk considered significant by OSHA. In addition, chromosomal studies among workers and in animals exposed to benzene indicate that low-level exposure, i.e., 1.0 ppm, is associated with elevated Cytogenetic damage. On the basis of adverse health effects data alone, in this author's opinion, it would be poor science and poor public health policy to establish a benzene TLV greater than 0.1 ppm.

  • PDF

산전 태아 진단을 위한 양수의 세포유전학적 분석 (Cytogenetic and Clinical Analysis for Antenatal Diagnosis in Amniotic Fluid)

  • 오현숙;김미경;김성미
    • 대한임상검사과학회지
    • /
    • 제39권3호
    • /
    • pp.151-155
    • /
    • 2007
  • Diagnosis and prevention of cytogenetics diseases are one of the most important parts in prenatal care. For that reason, it is necessary to examine birth defects. However, there is no reliable statistical data about birth defects in our country. In this study, the ratio of birth defects were determined by cytogenetics analysis and amniocentesis, in addition, the usefulness of amniocentesis was analyzed. The screening test and the triple marker test were conducted for 3,325 pregnant women of between 15 and 22 weeks gestation. Amniocentesis was performed for 170 pregnant women who were positive in the two tests, 184 women of advanced maternal age and 48 women with family history of chromosome aberrations. Among 419 women, 8 pregnant women who were positive in the triple marker test, 1 woman who close to the cut-off value in the triple marker test, 2 women with advanced maternal age and 1 woman who has history of chromosome aberration pregnance that was positive in cytogenetics analysis. The overall incidence of chromosomal aberration was 12 cases including 7 cases of Down's syndrome, 1 case of Patau syndrome, 1 case of Klinefelter syndrome, 1 case of Edward syndrome, 1 case of Robertsonian translocation and 1 case of XYY syndrome. These results show that amniocentesis for pregnant women who need chromosome test in prenatal cytogenetics analysis is very useful.

  • PDF

Embryo Aggregation Promotes Derivation Efficiency of Outgrowths from Porcine Blastocysts

  • Lee, Sang-Goo;Park, Jin-Kyu;Choi, Kwang-Hwan;Son, Hye-Young;Lee, Chang-Kyu
    • Asian-Australasian Journal of Animal Sciences
    • /
    • 제28권11호
    • /
    • pp.1565-1572
    • /
    • 2015
  • Porcine embryonic stem cells (pESCs) have become an advantageous experimental tool for developing therapeutic applications and producing transgenic animals. However, despite numerous reports of putative pESC lines, deriving validated pESC lines from embryos produced in vitro remains difficult. Here, we report that embryo aggregation was useful for deriving pESCs from in vitro-produced embryos. Blastocysts derived from embryo aggregation formed a larger number of colonies and maintained cell culture stability. Our derived cell lines demonstrated expression of pluripotent markers (alkaline phosphatase, Oct4, Sox2, and Nanog), an ability to form embryoid bodies, and the capacity to differentiate into the three germ layers. A cytogenetic analysis of these cells revealed that all lines derived from aggregated blastocysts had normal female and male karyotypes. These results demonstrate that embryo aggregation could be a useful technique to improve the efficiency of deriving ESCs from in vitro-fertilized pig embryos, studying early development, and deriving pluripotent ESCs in vitro in other mammals.