• Title/Summary/Keyword: 염색체이상

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Genotoxicological Safety Evaluation of Imported Oranges Irradiated with Ionizing Energy (이온화 에너지를 조사한 수입 오렌지의 유전독성학적 안전성 평가)

  • Huang, Yu-Hua;Jung, Da-Woon;Kang, Il-Jun
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.43 no.6
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    • pp.909-915
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    • 2014
  • This study was carried out to evaluate the genotoxicity of imported oranges irradiated with ionizing energy (0.5 and 1 kGy). In bacterial reversion assays with Salmonella Typhimurium TA98, TA100, TA1535, and TA1537, imported oranges irradiated with ionizing energy (0.5 and 1 kGy) showed no significant increase in the number of revertant colonies in both the absence and presence of the S9 metabolic activation system. In chromosomal aberration tests with Chinese hamster ovary (CHO) cells, imported oranges irradiated with ionizing energy (0.5 and 1 kGy) showed no increase in the frequency of chromosomal aberrations. In in vivo mouse micronucleus assay, imported oranges irradiated with ionizing energy (0.5 and 1 kGy) showed no increase in the frequency of polychromatic erythrocytes with micronucleus. These results indicate that imported oranges irradiated with ionizing energy (0.5 and 1 kGy) showed no genotoxic effects under these experimental conditions.

A Cytogenetic Study in Patients with Sex Chromosome Abnormalities (성염색체이상증후군의 핵형 분석)

  • Seo, Hyun Ji;Lee, Ji Hye;Lee, Heung Kyo;Jung, Seung Hee;Lee, Kun Soo
    • Clinical and Experimental Pediatrics
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    • v.48 no.12
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    • pp.1317-1323
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    • 2005
  • Purpose : This study was performed to evaluate the recent frequency of karyotypes in different sex chromosome abnormalities and to evaluate the age and clinical manifestations at diagnosis. Methods : Peripheral blood leukocytes were obtained from subjects who were clinically suspected to have sex chromosome abnormalities and referred to the cytogenetic laboratory in the Department of Pediatrics, Kyungpook National University Hospital from February 1981 to August 2001. Results : The relative frequencies of different sex chromosome abnormalities were Klinefelter(52 percent), Turner(42 percent), XXX syndrome(3 percent) and mixed gonadal dysgenesis(3 percent). The populations of different karyotypes in Klinefelter syndrome were 47,XXY(97 percent) and 46,XY/47,XYY(3 percent). The populations of different karyotypes in Turner syndrome were 45,X(67 percent,), mosaicism(23 percent), and structural aberrations(10 percent). The populations of different karyotypes in XXX syndrome were 47,XXX(67 percent,) and 46,XX/47,XXX(33 percent). All mixed gonadal dysgenesis were 45,X/46,XY. Eighty one percent of sex chromosome abnormalities was diagnosed after puberty. Patients diagnosed with Klinefelter and Turner syndrome in infancy showed nearly normal phenotypes or had minor congenital malformations. Conclusion : Early diagnoses of sex chromosome abnormalities is required to prevent associated morbidities and to maximize growth and development. We have to pay careful attention in diagnoses of Turner syndrome because of the high proportion of mosaicism and structural aberrations.

Effect of Maternal Age on Chromosome Aberrations and Telomere Quantity in Chick Embryos (닭의 모체 연령에 따른 생산 배아의 염색체 이상 빈도 및 텔로미어 함량 분석)

  • Lee, Soo-Hee;Subramani, Vinod K.;Sohn, Sea-Hwan
    • Korean Journal of Poultry Science
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    • v.36 no.4
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    • pp.293-300
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    • 2009
  • The rate of fetus with abnormal chromosomes increase with maternal age. Nondisjunction of aging oocyte chromosome is a major reason for the increased rate of abnormalities. Telomeres are the ends of eukaryotic chromosome, which are essential for chromosome stability and are related in cell senescence. This study was carried out to analyze the chromosome aberration rate and amount of telomeric DNA in chick embryo along with maternal age. Fertilized eggs and blood were sampled from White Leghorn layers starting at 20 weeks through to 70 weeks age at 10 weeks interval. Chromosome aberration rate was analyzed by karyotyping. The amounts of telomeric DNA in embryonic cells and lymphocytes were quantified by Quantitative Fluorescence in situ Hybridization method. The chromosome aberration rate in chick embryos significantly differed with maternal age. The chromosome aberration rate increased at early laying period and beyond 70 weeks of maternal age. Therefore, chromosome aberration rate was affected by maternal age due to ovulated oocytes state. However, the amount of telomeric DNA on embryonic cells did not differ significantly with maternal age. Thus, maternal age does not affects telomere quantity in their embryos due to cellular reprograming at early embryonic stage after fertilization.

Relationship between the DNA content of human chromosome and their contribution to radiation-induced chromosome aberration analysed by fluorescence in situ hybridization(FISH) (방사선에 의한 염색체이상과 DNA 함량과의 관계)

  • Chung, Hai-Won;Kim, Su-Young;Ha, Sung-Whan;Kim, Tae-Hwan;Cho, Chul-Koo
    • Journal of Radiation Protection and Research
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    • v.26 no.2
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    • pp.101-111
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    • 2001
  • To study the relationship between the DNA content of human chromosomes and their involvement in radiation-induced structural chromosome aberrations, the frequencies of translocations and dicentrics induced in human lymphocytes after in vitro exposure to 2Gy of x-tay were analysed by fluorescence in situ hybridization(FISH). Single whole chromosome probes(WCP), specific for chromosomes 1, 2, 4, 7, 8, 9, and 21 and triple combination of probes tot chromosome 1, 2 & 4 were used separately. A significant deviation of the frequency of symmetrical translocation and dicentrics from a DNA-proportional distribution was observed. Chromosomes 2, 7, 8, 9 and 21 were less frequently involved in the formation of symmetrical translocations and dicentrics than expected, whereas chromosomes 1 and 4 were more frequently involved. Chromosome 2 and 4 showed a higher frequency of acentric fragments. When triple combination probe for chromosome 1, 2 & 4 was used, no differences were found between the observed and expected frequency of exchange type aberrations. The results showed that the frequency of radiation-induced chromosome aberrations was not proportional to DNA contents, suggesting the difference in the susceptibility to specific aberrations among individual chromosomes. The results also indicated that the FISH technique with combination of probes for chromosome 1, 2 & 4 was useful for radiation biodosimetry.

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Galangin의 MNNG 또는 Bleomycin유도 염색체 손상에 대한 억제효과

  • 허문영;윤여표;이병무
    • Proceedings of the Korean Society of Applied Pharmacology
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    • pp.99-99
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    • 1993
  • 본 연구에서는 이미 benzo(a)pyrene유도 소핵시험에서 뚜렷하게 소핵생성억제능을 보인 polyhydroxy flavonol유도체중의 하나인 Galangin에 대하여 C57BL/6 mice를 이용하여 N-methyl-N'-nitro-N-nitrosoguanidine(이하 MNNG)에 의해 유도된 소핵생성빈도에 미치는 영향을 살펴보고, spleen lymphocyte 배양을 통해 bleomycin 및 MNNG유도 염색체이상에 미치는 영향과 MNNG에 의해 유발된 DNA adduts중 biomarker로서 7-methylguanine형성에 대한 Galangin의 영향을 살펴봄으로서 ,Galangin의 유전독성 억제효과 및 작용기전에 대한 연구를 하고자하며 향후 Galangin을 모핵으로하는 cancer chemopreventive agent로의 유도체 합성에 기여하고자 한다.

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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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Incidence and Spectrum of Chromosomal Abnormalities associated with Spontaneous Abortions in Korea: 470 Products of Conception over a Period of 6 Years (2005-2010) (국내 자연유산에 의한 수태산물 핵형분석에서 관찰된 염색체 이상의 발생율과 유형: 6년(2005-2010)간 수태산물 470예 분석)

  • Han, Sung-Hee;An, Jeong-Wook;Yang, Young-Ho;Kim, Young-Jin;Cho, Han-Ik;Lee, Kyoung-Ryul
    • Journal of Genetic Medicine
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    • v.8 no.1
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    • pp.44-52
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    • 2011
  • Purpose: Cytogenetic analysis of spontaneous abortions (SABs) provides valuable information to establish the causes of fetal loss, information that is essential to provide accurate reproductive and genetic counseling couples. Such analysis also provides information on the frequencies and types of chromosomal abnormalities and associated risks of recurrence. However, there have only been a few reports of chromosomal abnormalities in small samples of SABs in the Korean population. Here, we report the incidence and spectrum of chromosomal abnormalities for cases of 470 SAB in Korea. Material and Methods: Between 2005 and 2010, a total of 470 products of conception (POC) resulting from SABs were submitted to our laboratory for cytogenetic analysis from various medical sites in Korea. The incidences and types of specific chromosomal abnormalities were determined. The abnormalities were distinguished by gestational age at the time of SAB and by maternal age. Results: The frequency of chromosomal abnormalities in POCs was 54.3% (255/470), including 228 (89.3%) numerical and 27 (10.7%: 3 balanced and 24 unbalanced) structural abnormalities. Among the numerical abnormalities, trisomy was predominant (67.0%), followed by monosomy X (12.5%), polyploidy (8.2%), triple X (0.8%), and autosomal monosomy (0.8%). The overall sex ratio (male: female) among the 470 POCs with normal and abnormal karyotypes were 0.58 and 0.65, respectively. Trisomies were identified for each autosome, with the exceptions of 1, 3, and 19. Among the 171 autosomal trisomies, trisomy 16 was the most common (19.9%), followed by trisomy 22 (13.5%), trisomy 21 (12.3 %), trisomy 15 (9.9%), and trisomies 18 and 13 (5.3%). The frequency of chromosomal abnormalities decreased with gestational age and increased with maternal age, but only because of increases in trisomies and complex abnormalities. Conclusions: We have presented a large collection of cytogenetic data for SABs collected during the past 6 years and provided a database for prenatal genetic counseling of parents who have experienced SABs in Korea.

Genetic Screening for Chromosomal Abnormalities and Y Chromosome Microdeletions in 846 Infertile Korean Men (한국인 불임 남성 846명의 염색체 이상 및 Y 염색체 미세 결실에 대한 유전 스크리닝)

  • Han, Sung-Hee;Bak, Chong-Won;Cho, Hyunseok;Ban, Ga-Weo;Kang, Jeom-Soon;Lim, Hwan-Sub;Lee, Kyoung-Ryul;Hwang, Seung-Yong
    • Laboratory Medicine Online
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    • v.8 no.4
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    • pp.148-155
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    • 2018
  • Background: Chromosomal abnormalities are confirmed as one of the frequent causes of male infertility. The microdeletion of the azoospermia factor (AZF) region in the Y chromosome was discovered as another frequent genetic cause associated with male infertility. The aim of this study was to evaluate the frequency and type of chromosomal abnormalities and Y chromosome microdeletions in Korean infertile men. Methods: A total of 846 infertile men with azoospermia and severe oligozoospermia were included for genetic screening. Cytogenetic analyses using G-banding and screening for Y chromosome microdeletions by multiplex PCR for AZF genes were performed. Results: Chromosomal abnormalities were detected in 112 infertile men (13.2%). Of these, Klinefelter's syndrome was the most common (55.4%, 62/112), followed by balanced translocation including translocation between sex chromosome and autosome (14.3%), Yq deletion (13.4%), X/XY mosaicism with Yq deletion (12.5%), and XX male (4.5%). The overall prevalence of Y chromosome microdeletions was 9.2% (78/846). Most microdeletions were in the AZFc region (51.3%) with a low incidence in AZFa (7.7%) and AZFb (6.4%). Combined deletions involving the AZFbc and AZFabc regions were detected in 26.9% and 7.7% of men, respectively. Among the infertile men with Y chromosome microdeletions, the incidence of chromosomal abnormality was 25.6% (20/78). Conclusions: There was a high incidence (20.1%) of chromosomal abnormalities and Y chromosome microdeletions in Korean infertile men. These findings strongly suggest that genetic screening for chromosomal abnormalities and Y chromosome microdeletions should be performed, and genetic counseling should be provided before starting assisted reproductive techniques.

Effect of Tobacco Smoke Solution on Mitotic Abnnormalities in Root Tip Cells of Allium cepa L. (양파 근단 세포의 유사분열에 미치는 담배연기 수용액의 영향)

  • 소웅영
    • Journal of Plant Biology
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    • v.37 no.1
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    • pp.69-76
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    • 1994
  • The present work was conducted to examine the effect of tobacco smoke solution, and its components such as nicotine and catechol treated separately on the root tip cells of Allium cepa L The mitotic abnormalities in root tip cells treated with those three components were increased linearly, while the mitotic index was decreased following concentrations of the components. Chromosomal abnormalities showed 29.7%, 15.8% and 13.0% in the treatment of tobacco smoke solution, nicotine, and catechol, respectively. The abonormalities were included polyploid, c-mitosis, stickness at metaphase, laggard, bridge formation at anaphase or telophase, and micronucleus, abnormal nucleus at interphase, after the treatment of the components for 24 hours. hours.

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