• Title/Summary/Keyword: 염색체이상

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Karyotypes of Genus Liobagrus (Pisces : Amblycipitidae) in Korea (한국산(韓國産) 퉁가리속(屬) 어류(魚類)의 핵형(核型) 분석(分析))

  • Son, Yeong-Mok;Lee, Ji-Hyun
    • Korean Journal of Ichthyology
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    • v.1 no.1_2
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    • pp.64-72
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    • 1989
  • Karyological characteristics were investigated in 3 species of the genus Liobagrus from Korea. The diploid chromosome number in L. andersoni was found to be 28, with 9 pairs of metacentrics and 5 pairs of submetacentric chromosomes, and arm number (AN) was 56. L. mediadiposalis was found with 2n of 42, consisting of 13 pairs of metacentrics and 8 pairs of submetacentric chromosomes (AN=84). In the case of L. obesus 2n was 20, with 20 metacentric chromosomes (AN=40), which was the lowest among the species of the order Siluriformes. Sexual dimorphism or intraspecific polymorphism of the chromosomes was not observed in any species examined.

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Chromosomal Aberrations Induced in Human Lymphocytes by in vitro Irradiation with $^{60}Co\;{\gamma}-rays$ (체외 방사선조사시 인체 말초혈액 임파구의 염색체이상 빈도에 관한 연구)

  • Ahn, Yong-Chan;Ha, Sung-Whan
    • Journal of Radiation Protection and Research
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    • v.18 no.2
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    • pp.1-16
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    • 1993
  • As guides to decision-making in the management of the victims in case of acute whole body or partial body radiation exposure, we studied the relationship between radiation dose and the frequency of chromosomal aberrations observed in peripheral lymphocytes that were irradiated in vitro with $^{60}Co\;{\gamma}-rays$ at doses ranging from 2Gy to 12Gy. The yields of cells with unstable chromosomal aberrations (dicentric chromosomes, ring chromosomes, and acentric fragment pairs) were 32% at 2Gy, 47% at 4Gy, 80% at 6Gy, 94% at 8Gy, and 100% at 10Gy and over. Ydr, which reflect average dose to the whole body in case of acute whole body exposure, were 1.373 at 2Gy, 0.669 at 4Gy, 1.734 at 6Gy, 2.773 at 8Gy, 3.746 at 10Gy and 5.454 at 12Gy. The relationship between radiation dose (D) and the frequency of dicentric plus ring chromosomes per cell(Ydr) could be expressed as $Ydr=9.322{\times}10^{-2}/Gy {\times}D+2.975{\times}10^{-2}/Gy^2{\times}D^2$. Qdr, which are used in estimating dose of partial body exposure and dose of past exposure, were 1.166 at 2Gy, 1.436 at 4Gy, 2.173 at 6Gy, 2.945 at 8Gy, 3.746 at 10Gy and 5.454 at 12Gy. To see how confidently this dosimetry system may be used, we obtained Qdr values from those who received one fraction of homogenous partial body irradiation of 1.BGy, 2.5Gy, and 7.OGy therapeutically; in vivo Qdr values were 1.109, 1.222 and 2.222 respectively. The estimated doses calculated from these in vivo Qdr values using the equation $Qdr=Ydr/(1- e^{-Ydr})$ were 1.52Gy, 2.48Gy, and 6.54Gy respectively, which were very close to the doses actually given.

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Analysis of Chromosome aberrations by fluorescence in situ hybridization using triple chromosome-specific probes in human lymphocyte exposed to radiation (3중 DNA probe를 이용한 FISH(fluorescence in situ hybridization) 기법으로 방사선에 의한 염색체 이상 분석)

  • Chung, Hai-Won;Kim, Su-Young;Ha, Sung-Whan
    • Journal of Radiation Protection and Research
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    • v.24 no.1
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    • pp.45-53
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    • 1999
  • Fluorescence in situ hybridization with chromosome-specific probe has been shown to be a valid and rapid method for detection of chromosome rearrangements induced by radiation. This method is useful for quantifying structural aberrations, expecially for stable ones, such as translocation and insertion, which are difficult to detect with conventional method in human lymphocyte. In order to apply FISH method for high dose biological dosimetry, chromosomal abberations by radiation at doses of 1, 3, 5, and 7Gy were analysed with whole chromosome-specific probes by human chromosome 1, 2 and 4 according to PAINT system. The frequencies of stable translocation per cell equivalent were 0.04, 0.33, 1.22, 2.62, and 5.58 for the lymphocyte exposed to 0, 1, 3, 5, and 7Gy, respectively, and those of dicentric were 0.00, 0.06, 0.52, 1.19 and 2.44, respectively. Significantly more translocation of t(Ab), a translocated chromosome with a piece of painted acentric matrial 'b' attached to unpainted piece containing centromere 'A', than reciprocal chromosome t(Ba) was observed. The frequencies of all type of chromosome rearrangements increased with dose. From above result, FISH seemed to be useful for radiation biodosimetry by which the frequencies of various types of stable aberrations in human lymphocyte can be observed more easily than by conventional method and so will improve our ability to perform meaningful biodosimetry.

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1-β-D-Arabinofuranosyl-cytosine Induces Chromosomal Breaks in vitro (In vitro에서 1-β-D-arabinofuranosyl-cytosine의 염색체 파열 유도)

  • Jeon, In-sang
    • Clinical and Experimental Pediatrics
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    • v.46 no.12
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    • pp.1186-1193
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    • 2003
  • Purpose : Fragile sites are points on chromosomes which tend to break non-randomly when exposed to specific chemical agents or conditions of tissue culture. The chromosomal break induced by the antineoplastic drug, 1-${\beta}$-D-arabinofuranosyl-cytosine(Ara-c), was investigated to study the laboratory conditions in which the incidence of chromosomal break could be enhanced. Besides, the fragile sites induced by Ara-C were investigated and compared to the already known locations of the specific chromosomal alterations observed in specific neoplasms. Methods : T-lymphocytes from theree normal males and three females were cultured for 48 hours. Cells from each individual were exposed to the Ara-C for an additional 24 hours. After the caffeine was added during the last six hours culture, the metaphase chromosomes were prepared following the conventional method. A site was considered fragile if it was found to break two or more per 100 chromosomal breaks in more than four of six individuals tested. Results : Ara-C induced 252.1 chromosomal breaks per 100 mitotic cells and this result was significantly higher than that of the control, which induced 25.2 breaks(P<0.05). The incidence of the chromosomal break by Ara-C was higher, if cultured in the MEM-FA, which has no folic acid, than in the RPMI 1640 which contains enough folic acid(P<0.05). The most common break site by Ara-C was 3p14.2(FRA3B). There were 20 fragile sites induced by Ara-C. Among these 20 fragile sites, seven coincided with the locations of the mapped oncogenes, JUN, SKI, REL, N-MYC, FHIT, MET, ETS-1, and FOS. Conclusion : S phase specific chemotherapeutic agent, Ara-C, induced the expression of the chromosomal fragile sites effectively using the T-lymphocyte in vitro. Some of the fragile sites by Ara-C highly coincided with the oncogenes and neoplasm specific chromosome breakpoints. In this regard, the fragile sites reported here could provide the unknown neoplasm related chromosomal alternation points.

A Cytogenetic Analysis of Abortus with Spontaneous Abortion (자연 유산 수태산물의 세포유전학적 분석)

  • Hwang, Si-Mok;Kwon, Kyung-Hun;Yoon, Kyung-Ah;Oh, Sun-Kyung
    • Journal of Genetic Medicine
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    • v.6 no.1
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    • pp.62-66
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    • 2009
  • Purpose: Chromosomal abnormalities of abortuses have been used to investigate common etiologies of spontaneous abortion, but the frequencies and types of spontaneous abortions have demonstrated considerable variation among different countries and races. Materials and Methods: A cytogenetic analysis of 75 abortuses was performed at GenDix, Inc. from January 2006 to December 2007. Results: The frequency of chromosome abnormalities in abortuses was 32.0% (24/75 cases). Among the chromosomal abnormalities, trisomy was present in 62.5% (15/24 cases) of cases and the most frequent trisomy was trisomy 21 with an occurrence rate of 26.6% (4/15 cases). The following was trisomy 22 (3/15 cases) and trisomy 20 (2/15 cases). The average maternal age for abnormal karyotypes was $34.3{\pm}3.3$. Conclusion: Cytogenetic analysis of abortus is important for diagnosis and genetic counseling of patients with spontaneous abortion.

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FISH기법 적용을 위한 Y 염색체 특이 DNA Probe의 개발

  • 조은정;류란숙;류은경;손시환
    • Proceedings of the KSAR Conference
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    • pp.24-24
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    • 2003
  • Fluorescence in situ Hybridization(FISH)는 특정 염기서열을 이용하여 염색체나 염색체상의 DNA위치를 확인하는 기술로서, 면역세포화학 기술과 결합되어져 현미경으로 이들의 유전적 활성도를 직접 확인할 수 있는 방법으로 지금까지의 radioisotopes 대신 non-radioactive labeling 방법으로서 fluorescence을 이용한 분자세포유전학적 검정 방법이다. 따라서 특정 염색체의 FISH probe의 개발은 FISH 기법을 이용하여 조직 또는 세포내 특정 염색체나 DNA의 존재나 이상 유무를 신속하고 정확하게 파악할 수 있다. 본 연구는 소와 사람을 대상으로 Y-염색체 특이 DNA probe를 개발하고 이를 이용하여 FISH를 시행함으로서 본 probe의 신뢰성을 확인하고 임상적 적용 가능성을 제시 하고자 하였다.

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Effects of carbendazim on DNA, gene and chromosome (살균제 carbendazim이 DNA, 유전자 및 염색체에 미치는 영향)

  • Lee, Je-Bong;Sung, Pil-Nam;Jeong, Mi-Hye;Shin, Jin-Sup;Kang, Kyu-Young
    • The Korean Journal of Pesticide Science
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    • v.8 no.4
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    • pp.288-298
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    • 2004
  • Benzimidazole pesticide carbendazim that is effective against a wide range of fungal plant pathogens is a protective, eradicant, and systemic fungicide. For genetic toxicity evaluation of carbendazim on DNA, genes and chromosome, were investigated with chromosome aberration, bacterial reverse mutation, micronucleus test in mouse born marrow and DNA damage assay by single cell microgel electrophoresis. Substitution and frameshift mutation were not induce at variable concentration of carbendazim on Ames test with or without rat liver microsomal activation. For the result of chromosome aberration test, numerical changes of chromosome were detected at the concentrations higher than $4.0{\mu}g/m{\ell}$, but structural aberration was not induced. Positive control, Mitomycin-C and captafol made a structural aberration, but numerical change of chromosome did not appear. In the micronucleus test for mouse born marrow, carbendazim was negative, but was weak positive in DNA damage assay by single cell microgel electrophoresis because of increased DNA moving length of 20% to control.

Chromosomal analyses of 4,500 cases of the peripheral blood : An experience in a single hospital for 25 years (말초혈액을 이용한 핵형 분석 4,500례 : 단일기관에서의 25년간의 경험)

  • Seo, Hye-Eun;Lee, Ji Hye;Kim, Ji Yoon;Lee, Dong Ha;Lee, Heung Kyo;Lee, Kun Soo
    • Clinical and Experimental Pediatrics
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    • v.50 no.9
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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.

Change of Frequency of Chromosome Aberration by Time Interval after Radiation Therapy (방사선 치료후 시간경과에 따른 염색체이상 빈도의 변화)

  • Kim, Mi-Sook;Yi, Chun-Ja;Ha, Sung-Whan;Song, Myung-Jae;Kim, Hee-Jeun
    • Journal of Radiation Protection and Research
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    • v.19 no.1
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    • pp.51-68
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    • 1994
  • It is good method to use frequency of chromosome aberration in Lymphocytes for a biological dosimetry in cases of accidental exposure to radiation. But in cases of past exposure, biological dosimetry is limited because the frequency of aberration decreases by time after exposure. To provide a basic data for estimation of past radiation exposure, the changing pattern of frequency of unstable chromosome aberration by time interval after exposure was studied. Observation was made on peripheral lymphocytes of 41 blood samples from 20 patients treated for uterine cervical carcinoma and endometrial carcinoma. The patients received 50.4Gy radiation to whole pelvis. Elapsed times after the completion of radiation therapy were 1 day, 3, 6, 9, 12, 24, 52, 104, 156, 208, 260 and 520 weeks. All the blood sample were microcultured. The Ydr, Qdr and Qdra were calculated from frequency of unstable aberration. Ydr did not decrease for 3 weeks after radiation therapy, and thereafter, decreased very rapidly and reached 0.05 at two years after radiation therapy and decreased very slowly until 5 years after radiation therapy. Relationship between unstable chromosome aberration and time interval after radiation therapy was described as $Ydr=0.259{\times}exp(-0.0429T)+0.0560{\times}exp(-0.00106T)$ (time in weeks) Qdr remained constant at 1.51 until 24 weeks after radiation therapy and then decreased to 1.17 at 52 weeks. Therafter, it did not change. Qdra remained constant at 1.10 for 12 weeks after radiation therapy and decreased to 0.81 at 52 weeks. Thereafter, it remained constant. Two superimposed exponential Ydr disappearance rate suggests that it is possible to calculate the past exposure dose. When the elapsed time after exposure is short, Qdr and Qdra are useful papameters for biological dosimetry for past radiation exposure.

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유전자 조작된 대장균이 생산한 알파 인터페론(rHu IFN-$\alpha$A)의 변이원성에 대한 연구

  • 조남진;정인환;김제학;김현수;유무영
    • Proceedings of the Korean Society for Applied Microbiology Conference
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    • pp.520.2-520
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    • 1986
  • Ames test와 포유동물 배양세포를 이용한 염색체 이상시험을 통하여 유전자 조작된 대장균이 생산한 알파 인터페론의 변이원성 유무를 조사하였다. rHu IFN-$\alpha$ A는 S. typhimurium (TA 1535, TA 1537, TA 1538, TA 98, TA 100) 에 30, 3000, 30,000 IU/plate의 농도에서 변이원성을 나타내지 않았으며, rat(Sprague-Dawley)의 골수세포를 이용한 생체내 염색체 이상시험을 실시하여 양성대조군인 nitroso-guanidine과 rHu IFN-$\alpha$A 각각에 대한 염색체 구조 이상의 출현율을 조사하였다.

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