• Title/Summary/Keyword: cytogenetic study

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Analysis of FISH patterns using 5S and 45S rDNAs in Codonopsis minima and C. lanceolata from Jeju Island (5S와 45S rDNA 유전자를 이용한 제주도산 애기더덕 (Codonopsis minima)과 더덕 (C. lanceolata)의 FISH 패턴 분석)

  • Kim, Soo-Young;Kim, Chan-Soo
    • Korean Journal of Medicinal Crop Science
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    • v.18 no.3
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    • pp.186-190
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    • 2010
  • The chromosome number was identified and fluorescence in situ hybridization(FISH) mapping of 5S and 45S rDNAs were conducted for C. minima and C. lanceolata in the genus Codonopsis from Jeju island. In this study, we have confirmed that the somatic metaphase chromosome number determined as 2n=2x=16 was the same as the findings from the previous studies. While the conventional staining method makes it rather difficult to distinguish satellite chromosomes due to high degree of variability, FISH analysis produced the exact number and location of 5S and 45S rDNAs. Both species in the genus Codonopsis have a pair of 5S rDNA and their gene loci were observed on chromosome 3. Although two pairs of 45S rDNAs (one on chromosome 1 and the other on chromosome 8) were identified in both species, the 45S rDNA signals on chromosome 8 in C. minima were significantly weaker than those on chromosome 1. In addition, the 45S rDNA signals on chromosome 1 in C. lanceolata showed that the chromosome is non-homologus. In this study, we have determined cytogenetic characteristics of C. minima and C. lanceolata according to their gene replication patterns.

Monosomal Karyotypes among 1147 Chinese Patients with Acute Myeloid Leukemia: Prevalence, Features and Prognostic Impact

  • Yang, Xiao-Fei;Sun, Ai-Ning;Yin, Jia;Cai, Cheng-Sen;Tian, Xiao-Peng;Qian, Jun;Chen, Su-Ning;Wu, De-Pei
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.11
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    • pp.5421-5426
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    • 2012
  • A monosomal karyotype (MK), defined as ${\geq}2$ autosomal monosomies or a single monosomy in the presence of additional structural abnormalities, was recently identified as an independent prognostic factor conveying an extremely poor prognosis in patients with acute myeloid leukemia (AML). In the present study, after excluding patients with t(15;17), t(8;21), inv(16) and normal karyotypes, 324 AML patients with cytogenetic abnormalities were the main subject of analysis. The incidences of MK were 13% in patients aged 15 to 60 years and 18% in those between 15 and 88 years old. MK was much more prevalent among elderly patients (p < 0.001) and was significantly associated with the presence of -7, -5, del(5q), abn12p, abn17p, -18 or 18q-, -20 or 20q- and CK (for all p < 0.001 except for abn12p p=0.009), and +8 or +8q was less frequent in MK+ AML(p=0.007). No correlation was noted between monosomal karyotype and FAB subtype (p > 0.05); MK remained significantly associated with worse overall survival among patients with complex karyotype (p=0.032); A single autosomal monosomy contributed an additional negative effect in OS of patients with structural cytogenetic abnormalities (P=0.008). This report presents the prevalence, feature and prognostic impact of MK among a large series of Chinese AML patients from a single center for the first time.

C-분염(分染)에 의한 사람의 염색체 다형성에 관한 연구

  • Choi, Soo-Kyung;Paik, Yong-Kyun;Lee, Hyung-Hoan
    • Clinical and Experimental Reproductive Medicine
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    • v.16 no.1
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    • pp.41-55
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    • 1989
  • Lymphocyte chromosome preparations obtained by the micromethod (Arakaki and Sparkes, 1963) from 234 our patients (165 females and 69 males) were analysed by C-, NOR-and GC-bandings for chromosome heteromorphisms. The centromeric regions of chromosomes 1,9,16 and the long arm of the Y chromosomes were tested for C heteromorphism. Minor variations found in this study such as inv(9), prominant short arms and large satellites of acrocentrics were also examined by appropriate banding techniques. Of the 234 probands, a total of 125 different C-variants were detected, and the average frequency of the variants per individual was estimated to be 0.53. The observed variations were as follows : 99 qh variants, 5 pericentric inversions of chromosome 9, and 21 satellite and/or short arm variants.

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A Cytogenetic Study on Induction of Diploid Spermatozoa in Poultry (가금류 정자 세포의 배수성 유기를 위한 세포 유전학적 연구)

  • 김철욱;손시환;전익수
    • Korean Journal of Poultry Science
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    • v.23 no.1
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    • pp.1-7
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    • 1996
  • In order to produce polyploid quail, the patterns of spermatogenesis and induction of diploid spermatozoa were analyzed by administration of spindle fiber inhibitor agent. Colcemid at the dose level of 37 $\mu\textrm{g}$ /100 g BW was Injected intraperitoneally to 50 Japanese quail males for 3 consecutive days. Five to 20 days after the first colcemid injection, the metaphase spreads from mitotic spermatogonia, primary spermatocyte and secondary spermatocyte were observed. By cytogenetic analysis, 9.4% of spermatogonia and spermatocyte cells in germ cells from the treated males was found to be polyploid cells. As compared with colcemld treated, the males with non-treated colcemid had only 2.3% polyploid cells in germ cells. The induction of diploid germ cells was highest in 10 days after the first colcemid injection and was lowest in 5 days after the first colcemid injection. These results suggested that between 10 to 15 days before maturation of the spermatozoa, the male germ cells were most sensitive to colcemid treatment. Spindle fiber inhibitor agent was also more sensitive to mitotic division of spermatogonia than meiotic division of primary and secondary spermatocyte.

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Cytogenetic Properties of Bovine Reconstituted Embryos by Cell Cycle-Controlled Nuclear Transfer (소 수정란의 세포주기조절 핵이식에 의한 재구축배의 세포학적 특성)

  • Cheong, H.T.;Park, C.K.;Yang, B.K.;Kim, C.I.
    • Korean Journal of Animal Reproduction
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    • v.23 no.3
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    • pp.271-278
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    • 1999
  • This study was conducted to investigate the cytogenetic properties, in vitro development, and their relationship in the bovine reconstituted embryos following cell cycle-controlled nuclear transfer. Sixteen-cell stage embryos were treated by nocodazole, and after release from nocodazole treatment, their blastomeres were separated and allowed to subsequent cleavage. Blastomeres within 1.5 h post cleavage(hpc) and at 3hpc were transferred to enucleated oocytes at MII-phase or S-phase. Donor nuclei transferred into M II-phase recipients underwent various nuclear remodeling, such as extrusion of a polar body(PB)-like structure, premature chromosome condensation(PCC) and chromatin modifications. These nuclear remodeling patterns varied by the time post cleavage of donor blastomeres. Developmental rate to the blastocyst stage differed with time post cleavage of donor blastomeres and existence of a PB-like structure. Whereas do-nor nuclei transferred into S-phase oocytes did not undergo PCC and other major modifications, and their developmental potentials less depended on the nuclei types. This result confirms that the nuclear remodeling type differs with donor and recipient cell cycle stage, which affect the development of reconstituted bovine embryos.

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Study on the Analysis of Chromosome Abnormality by Flow Cytometric and Cytogenetic Methods (유식세포분리기와 세포유전학적 방법에 의한 염색체이상 분석에 관한 연구)

  • Baik, C.S.;Kim, M.K.;Lee, S.M.;Kim, J.H.;Baik, Y.K.;Lee, H.T.;Chung, K.S.
    • Clinical and Experimental Reproductive Medicine
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    • v.23 no.1
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    • pp.73-79
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    • 1996
  • 골수나 유산물질에 대한 세포유전학적 검사에 있어 통상적인 염색체검사는 검사에 적합한 중기핵상을 얻기 어려워 실패하는 경우가 많다. 이러한 경우에 진단이나 치료에 도움을 줄 수 있는 방법으로 유식세포분리기를 사용하여 단일 세포내 DNA량에 따른 aneuploidy를 추적할 수 있는 가를 확인하기 위해 본 실험을 실시하였다. 79 (혈액 30, 골수 37, 유산물 12)예에서 염색체 검사와 유식세포 분리검사를 동시에 실시하여 각각의 결과를 비교한 결과 79.7% (63/79)의 일치율을 얻었다. 그러나 염색체의 손실이 없는 전좌와 역위의 경우는 물론 작은 조각의 염색체 부분이 늘어나거나 줄어든 경우에 있어서는 유식세포분리방법에 의해서 추적되지 못하였지만, 염색체 검사의 결과를 얻는데 실패한 경우에는 유식세포분리방법이 DNA량의 변화에 대한 정보를 얻을 수 있다는 것을 확인할 수 있었다. 따라서 본 연구결과는 세포유전학적 검사에서 유식세포분리방법이 염색체 검사보다 신속하며 염색체검사가 불가능한 시료에서도 DNA양에 따른 aneuploidy의 추적이 가능하다는 것을 시사한다.

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Hemihypertrophy with hypomelanosis of Ito: A new syndrome combination

  • Goswami, Hit K.;Rangnekar, Aruna G.;Sharma, Sandeep;Varshney, Subodh;Lee, In-Hwan;Chang, Sung-Ik
    • Journal of Genetic Medicine
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    • v.2 no.1
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    • pp.1-5
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    • 1998
  • A female hemihypertrophy patient with hypomelanosis of Ito is presented as a rare case combining classical features of both the syndrome. Chromosomal profile has been based on longitudinal study of repeated lymphocyte cultures during 1984-1992. The propositus has exhibited chromosomal mosaicism both hypoploid ($42{\pm}1$) and hyperploid ($48{\pm}2$ chromosome) counts, but the major stem line presented 46XX chromosomes. Ring chromosome with simple and complex translocations with marker dots appear to be the major cytogenetic assemblage of this child to posses unequal left and right halves of the body. Each and every organ from toe to the head has grown up unequally and lately the patient had been exhibiting different dark and light shapes of melanin on the skin. We believe that the patient had inherited, through her male parent, "a few" mutated loci on some chromosomes so as to generate different cell lines within the developing child. All sibs and the mother showed normal karyotype with no apparent aberration.

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Evaluation of Micronucleus Frequency in Cytokinesis-blocked Bovine Lymphocytes from Regions around Wolsong Nuclear Power Plant (세포질 분열 차단 림프구를 이용한 월성원자력발전소 주변 소의 미소핵 발생 평가)

  • Kim, Se-ra;Kim, Tae-hwan;Kim, Sung-ho
    • Korean Journal of Veterinary Research
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    • v.43 no.3
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    • pp.333-338
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    • 2003
  • Cytogenetic and hematological analysis was performed in bovine peripheral blood from the regions around Wolsong nuclear power plant and control area. The frequency of micronuclei (MN) in peripheral blood lymphocytes from cattle was used as a biomarker of radiobiological effects resulting from exposure to environmental radiation. An estimated dare of radiation was calculated by a best fitting linear-quadratic model based on the radiation-induced MN formation from the bovine lymphocytes exposed in vitro to radiation over the range from 0 Gy to 4 Gy. MN rates in lymphocytes of cattle from Wolsong nuclear power plant and control area were 9.87/1,000 and 9.60/1,000, respectively. There were no significant differences in MN frequencies and hematological values in cattle between Wolsong and control area. The study indicates that the MN assay is a rapid, sensitive and accurate method that can be used to monitor a large population exposed to radiation.

A case of anemia caused by combined vitamin B12 and iron deficiency manifesting as short stature and delayed puberty

  • Song, Seung-Min;Bae, Keun-Wook;Yoon, Hoi-Soo;Im, Ho-Joon;Seo, Jong-Jin
    • Clinical and Experimental Pediatrics
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    • v.53 no.5
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    • pp.661-665
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    • 2010
  • Anemia caused by vitamin B12 deficiency resulting from inadequate dietary intake is rare in children in the modern era because of improvements in nutritional status. However, such anemia can be caused by decreased ingestion or impaired absorption and/or utilization of vitamin B12. We report the case of an 18-year-old man with short stature, prepubertal sexual maturation, exertional dyspnea, and severe anemia with a hemoglobin level of 3.3 g/dL. He had a history of small bowel resection from 50 cm below the Treitz ligament to 5 cm above the ileocecal valve necessitated by midgut volvulus in the neonatal period. Laboratory tests showed deficiencies of both vitamin B12 and iron. A bone marrow examination revealed dyserythropoiesis and low levels of hemosiderin particles, and a cytogenetic study disclosed a normal karyotype. After treatment with parenteral vitamin B12 and elemental iron, both anemia and growth showed gradual improvement. This is a rare case that presented with short stature and delayed puberty caused by nutritional deficiency anemia in Korea.

Paracentric Inversions Found in Prenatal Diagnosis

  • Lee, Shin Yeong;Lee, Bom Yi;Park, Ju Yeon;Choi, Eun Young;Lee, Yeon Woo;Oh, Ah Rum;Ryu, Hyun Mee;Park, So Yeon
    • Journal of Genetic Medicine
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    • v.10 no.2
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    • pp.104-108
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    • 2013
  • Purpose: This study was designed to confirm whether the paracentric inversions of fetuses and parents may be harmless. Materials and methods: We report 10 cases (0.14%) with paracentric inversions among 7,181 prenatal cases observed during prenatal diagnosis performed at Cheil General Hospital between January 2009 and June 2013. We used cytogenetic GTL- and RBG-banding techniques. Results: Of the 10 cases, nine cases were transmitted from each of the parents, and one case was de novo. Nine cases were phenotypically normal up to one month of age after birth. One case was lost to follow-up. We present prenatal diagnosis and follow-up examination of the fetuses with paracentric inversion. Conclusion: Based on our cases, most paracentric inversions are considered to be harmless. The precise identification of paracentric inversions might be clinically important and helpful for genetic counseling.