• Title/Summary/Keyword: 염색체 이상

Search Result 407, Processing Time 0.03 seconds

Chromosome Aberration in Peripheral Lymphocyte of Radiation Workers in Hospital (병원내 방사선작업종사자들의 염색체이상빈도)

  • Yi, Chun-Ja;Ha, Sung-Whan;Jung, Hae-Won
    • Journal of Radiation Protection and Research
    • /
    • v.22 no.4
    • /
    • pp.227-235
    • /
    • 1997
  • Cytogenetic studies were performed in peripheral blood lymphocytes from hospital workers occupationally exposed to low doses of radiation (0.30 - 40.07mSv). The workers were divided into three groups according to their job area : 18 diagnostic radiology, 17 therapeutic radiology, and 16 nuclear medicine. The control group consisted of 49 non-radiation workers with no history of exposure to radiation. A higher percentage of cells with aberration(1.275%) was observed in the workers compared to the controls(0.677%) and the difference was statistically significant(p<0.001). The frequency of chromosomal aberration was $0.706{\times}10^{-2}$/cell in the exposed and $0.344{\times}10^{-2}$/cell in the control(p<0.05). Chromosomal exchange frequency was $0.083{\times}10^{-2}$/cell in the control vs $0.245{\times}10^{-2}$/cell in the workers. There was no evidence of significant increase of chromosome aberration related to age or to the duration of employment. The frequency of chromosomal exchange in workers of nuclear medicine was $0.313{\times}10^{-2}$/cell, which was significantly higher than in the control($0.083{\times}10^{-2}$/cell) or other working groups: therapeutic radiology($0.265{\times}10^{-2}$/cell), and diagnostic radiology($0.167{\times}10^{-2}$/cell). No dose-effect relation was found between chromosome aberration and total cumulative doses, recent 5 yr, recent 2 yr cumulative dose. But in case of last 1 yr cumulative dose, dose-dependant increase was observed when controls were considered(p<0.05). The radiation dose which workers have received was much lower than the maximum permissible dose, but there was a significant difference in the frequency of chromosome aberration between occupationally exposed workers and control. So, it is clear that chromosome aberration is a quite sensitive indicator of radiation exposure and it can be detected at very low dose level of occupational exposure.

  • PDF

High Resolution Genomic Profile of Neuro2a Murine Neuroblastoma Cell Line by Array-based Comparative Genomic Hybridization (고집적어레이 기반의 비교유전체보합법(CGH)을 통한 신경아세포종 Neuro2a 세포의 유전체이상 분석)

  • Do, Jin-Hwan;Kim, In-Su;Ko, Hyun-Myung;Choi, Dong-Kug
    • Journal of Life Science
    • /
    • v.19 no.4
    • /
    • pp.449-456
    • /
    • 2009
  • Murine Neuro-2a (N2a) cells have been widely used for the investigation of neuronal differentiation, trophic interaction and neurotoxic effects of various compounds and their associated mechanisms. N2a cells have many genomic variations such as gains or losses in DNA copy number, similar to other neuroblastoma cells, and no systematic or high-resolution studies of their genome-wide chromosomal aberrations have been reported. Presently, we conducted a systematic genome-wide determination of chromosomal aberrations in N2a cells using a high-throughput, oligonucleotide array-based comparative genomic hybridization (oaCGH) technique. A hidden Markov Model was employed to assign each genomic oligonucleotide to a DNA copy number state: double loss, single loss, normal, gain, double gain and amplification. Unlike most neuroblastoma cells, Mycn amplification was not observed in N2a cells. In addition, these cells showed gain only in the neuron-derived neurotrophic factor (NF), while other neurotrophic factors such as glial line-derived NF and brain-derived NF presented normal copy numbers. Chromosomes 4, 8, 10, 11 and 15 displayed more than 1000 aberrational oligonucleotides, while chromosomes 3, 17, 18 and 19 displayed less than 20. The largest region of gain was located on chromosome 8 and its size was no less than 26.7 Mb (Chr8:8427841-35162415), while chromosome 4 had the longest region of single deletion, with a size of 15.1 Mb (Chr4:73265785-88374165).

Chromosome numbers of Carex section Siderostictae from Korea populations (Cyperaceae) (한국산 사초과 대사초절의 염색체 수)

  • Chung, Kyong-Sook;Yang, Jong Cheol;Lee, You-Mi
    • Korean Journal of Plant Taxonomy
    • /
    • v.43 no.1
    • /
    • pp.22-26
    • /
    • 2013
  • We report somatic chromosome numbers 2n = 12 for three Carex sect. Siderostictae Franch. ex Ohwi (Cyperaceae) from Korean populations: Carex ciliatomarginata Nakai, C. okamotoi Ohwi, and C. siderosticta Hance. This study is the first chromosome number report for the species C. ciliatomarginata from Korean populations. As found in other Carex species, all the chromosomes examined in the section exhibit nonlocalized centromere (polycentric or holocentric) and large (more than ca. $1{\mu}m$ long) chromosomes. Considering the basal phylogenetic position of the section in tribe Cariceae Pax, small numbers of large chromosomes have been hypothesized as primitive characters in Cariceae, and our observation supports the hypothesis. Further investigations of chromosomes in Carex are needed for a better understanding of species richness in the genus.

Application of G- anad C-banding Techniques for Chromosome Analysis Using Testis of Mouse (Mouse의 정소이용 염색체 조사에 G- 및 C-banding법의 적용)

  • Choi, Yung-Hyun;Kwon, Yong-Won;Yun, Hee-Sun;Yoo, Mi-Ae;Lee, Won-Ho
    • Journal of Life Science
    • /
    • v.8 no.1
    • /
    • pp.60-66
    • /
    • 1998
  • The mototic and meiotic chromosomal characteristics of ICR mice were investigated with G-and C-banding techniques. For the puposes, the chromosomal preparations were made with the modified air-drying method of Imal et al. Chromosomal analysis using testis could be observed mitotic as well as meitotic chromosomal behaviors, and the centromeric regions of all chromosomes including X chromosome were strongly stained in C-banded preparations. Nineteen autosomal bivalents and a single uniequal terminally associated X-Y bivalent in normal cells were observed during the late prophase and the metaphase of the meiosis I. The mean frequencies of previously dissociated X-Y chromosomes in the primary apermatocytes of the control group were 7.45%, but the frequencies of X-Y dissociation in the alkylating agents-treated group were about 3-4 times higher than that in the control group. Application of C-banding in meiotic stages could be certainly distinguish between vibalent type and univalents type of sex chromosomes.

  • PDF

Cytogenetic Analysis of Reciprocal Hybrids Reveals a Robertsonian Translocation between Mud Loach ($Misgurnus$ $mizolepis$) and Cyprinid Loach ($M.$ $anguillicaudatus$) (미꾸라지($Misgurnus$ $mizolepis$)와 미꾸리($M.$ $anguillicaudatus$) 및 유도된 종간 잡종의 세포유전학적 연구)

  • Lee, Seung-Ki;Kim, Dong-Soo
    • Korean Journal of Ichthyology
    • /
    • v.24 no.1
    • /
    • pp.1-10
    • /
    • 2012
  • Reciprocal hybrids between the mud loach ($Misgurnus$ $mizolepis$) and cyprinid loach ($M.$ $anguillicaudatus$) were produced by artificial fertilization. The chromosome number of mud loach was 2n=48, consisting of 12M+4SM+32A chromosomes. The cyprinid loach has 2n=50, consisting of 10M+4SM+36A chromosomes. The chromosome numbers of the diploid reciprocal hybrids were 2n=49, consisting of 11M+4SM+34A chromosomes. All the karyotypes documented in this study had the same arm number of 64. There was no evidence of chromosomal polymorphisms or sex-related heteromorphism. The cytogenetic traits of the hybrid genotypes were intermediate between those of the parent species. In all genotypes, the chromosomal NORs localized to the terminal short arms of the same metacentric chromosome pair. These results suggest that Robertsonian translocation occurred between metacentric chromosome 1 of mud loach and acrocentric chromosome of cyprinid loach.

Preimplantation Genetic Diagnosis for Aneuploidy Screening in Patients with Poor Reproductive Outcome (염색체 이수성과 관련된 비정상적 임신이 예상되는 환자에서 착상전 유전진단의 결과)

  • Kim, Jin Yeong;Lim, Chun Kyu;Cha, Sun Hwa;Park, Soo Hyun;Yang, Kwang Moon;Song, In Ok;Jun, Jin Hyun;Park, So Yeon;Koong, Mi Kyoung;Kang, Inn Soo
    • Clinical and Experimental Reproductive Medicine
    • /
    • v.33 no.3
    • /
    • pp.179-187
    • /
    • 2006
  • Objectives: The risk of aneuploidies of embryos increases in advanced maternal age or parental karyotype abnormality and it results in poor reproductive outcomes such as recurrent spontaneous abortion (RSA) or repeated implantation failure (RIF). Preimplantation genetic diagnosis for aneuploidy screening (PGD-AS) can be applied for better ART outcome by selecting chromosomally normal embryos. The aim of this study is to evaluate the clinical outcome of PGD-AS and which group can get much benefit from PGD-AS among the patients expected to have poor reproductive outcome. Methods: In 42 patients, 77 PGD cycles were performed for aneuploidy screening. Patients were allocated to 3 groups according to the indication of PGD-AS: group I-patients with old age (${\geq}37$) and RIF more than 3 times (n=11, mean age=42.2 yrs.), group II-patients with RSA (${\geq}3$ times) associated with aneuploid pregnancy (n=19, mean age=38.9 yrs.), group III-parental sex chromosome abnormality or mosaicism (n=18, mean age=29.6 yrs.) including Turner syndrome, Klinefelter syndrome and 47, XYY. PGD was performed by using FISH for chromosome 13, 16, 18, 21, X and Y in group I and II, and chromosome X, Y and 18 (or 17) in group III. Results: Blastomere biopsy was successful in 530 embryos and FISH efficiency was 92.3%. The proportions of transferable embryos in each group were $32.5{\pm}17.5%$, $23.0{\pm}21.7%$ and $52.6{\pm}29.2%$ (mean ${\pm}$ SD), respectively, showing higher normal rate in group III (group II vs. III, p<0.05). The numbers of transferred embryos in each group were $3.9{\pm}1.5$, $1.9{\pm}1.1$ and $3.1{\pm}1.4$ (mean ${\pm}$ SD), respectively. The clinical pregnancy rates per transfer was 0%, 30.0% and 20.0%, and it was significantly higher in group II (group I vs. group II, p<0.05). The overall pregnancy rate per transfer was 19.6% (10/51) and the spontaneous abortion rate was 20% (2/10) of which karyotypes were euploid. Nine healthy babies (one twin pregnancy) were born with normal karyotype confirmed on amniocentesis. Conclusion: Our data suggests that PGD-AS provides advantages in patients with RSA associated with aneuploidy or sex chromosome abnormality, decreasing abortion rate and increasing ongoing pregnancy rate. It is not likely to be beneficial in RIF group due to other detrimental factors involved in implantation.

Repetitive Pregnancy Loss in inv(22)(p13q12) Carrier

  • Kim, Do-Hoon;Ha, Jung-Sook;Rhee, Jeong-Ho
    • Journal of Genetic Medicine
    • /
    • v.7 no.1
    • /
    • pp.78-81
    • /
    • 2010
  • Pericentric inversion is not rare in humans and is usually benign. However, pericentric inversion can lead to production of an unbalanced recombinant and might be a cause of repetitive pregnancy loss. Pericentric inversion of chromosome 22 is rare and only a few cases have been reported. We report a case of inv(22)(p13q12) carrier who had history of repetitive pregnancy loss including three spontaneous abortions and one fetal hydrops in which the chromosomal complement was rec(22)dup(22q) inv(22)(p13q12)mat. The maternal inv(22) and fetal rec(22) were confirmed by fluorescence in situ hybridization using region-specific probes (TUPLE1 on 22q11.2 and ARSA on 22q13). Because the identification of inv(22) or rec(22) in conventional karyotyping might be easily overlooked, great attention and additional molecular tests are required for accurate diagnosis of inv(22) and rec(22).