• Title/Summary/Keyword: Chromosome 1

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Effects of Mitomycin C on Sister Chromatid Exchanges in Cultured Human Lympocytes (항암제 Mitomycin C가 배양임파구의 자매염색분체 교환에 미치는 영향)

  • Hwang, In-Dam;Ki, No-Suk;Lee, Jeong-Sang;Kim, Nam-Song;Mun, Tae-Il
    • Journal of Preventive Medicine and Public Health
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    • v.19 no.2 s.20
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    • pp.244-251
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    • 1986
  • Sister chromatid exchanges(SCEs) and cell cycle kinetics were proposed as a sensitive and quantitative assay for mutagenicity and cytotoxicity in short-term cultures of phytohema-gglutinin(PHA)-stimu1ated human 1ymphocytes. Therefore, this study was performed to investigate the relation between the cytotoxic effects and sister chromatid exchanges. The resultes are summarized as follows: 1) The frequency of SCEs per cell are $13.1{\pm}2.8$ in the lower concentration of $6.25{\times}10^{-9}M\;and\;75.8{\pm}8.2$ in the highest concentration of $1.00{\pm}10^{-7}M$. Mitotic index is decreased in the higher concentration of mitomycin C. The result indicates that mitomycin C led to a dose dependent increase in SCE frequency, but decease in mitotic index. 2) Chromosomal analysis was performed on metaphase cells that have divided one, two, and three or more times for cell cycle kinetics by fluorescence-plus-Giemsa(FPG) technique. According to the increased concentration of mitomycin C, the proportion of metaphase cells in the first are profoundly increased but the cells of third division are greatly decreased. 3) The frequency of SCEs per chromosome by chromosomal group are decreased gradually from A group to G group. But relationships between specific chromosomal group and SCE frequency are not found.

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Comparison of Genetic Profiles and Prognosis of High-Grade Gliomas Using Quantitative and Qualitative MRI Features: A Focus on G3 Gliomas

  • Eun Kyoung Hong;Seung Hong Choi;Dong Jae Shin;Sang Won Jo;Roh-Eul Yoo;Koung Mi Kang;Tae Jin Yun;Ji-hoon Kim;Chul-Ho Sohn;Sung-Hye Park;Jae-Kyoung Won;Tae Min Kim;Chul-Kee Park;Il Han Kim;Soon-Tae Lee
    • Korean Journal of Radiology
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    • v.22 no.2
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    • pp.233-242
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    • 2021
  • Objective: To evaluate the association of MRI features with the major genomic profiles and prognosis of World Health Organization grade III (G3) gliomas compared with those of glioblastomas (GBMs). Materials and Methods: We enrolled 76 G3 glioma and 155 GBM patients with pathologically confirmed disease who had pretreatment brain MRI and major genetic information of tumors. Qualitative and quantitative imaging features, including volumetrics and histogram parameters, such as normalized cerebral blood volume (nCBV), cerebral blood flow (nCBF), and apparent diffusion coefficient (nADC) were evaluated. The G3 gliomas were divided into three groups for the analysis: with this isocitrate dehydrogenase (IDH)-mutation, IDH mutation and a chromosome arm 1p/19q-codeleted (IDHmut1p/19qdel), IDH mutation, 1p/19q-nondeleted (IDHmut1p/19qnondel), and IDH wildtype (IDHwt). A prediction model for the genetic profiles of G3 gliomas was developed and validated on a separate cohort. Both the quantitative and qualitative imaging parameters and progression-free survival (PFS) of G3 gliomas were compared and survival analysis was performed. Moreover, the imaging parameters and PFS between IDHwt G3 gliomas and GBMs were compared. Results: IDHmut G3 gliomas showed a larger volume (p = 0.017), lower nCBF (p = 0.048), and higher nADC (p = 0.007) than IDHwt. Between the IDHmut tumors, IDHmut1p/19qdel G3 gliomas had higher nCBV (p = 0.024) and lower nADC (p = 0.002) than IDHmut1p/19qnondel G3 gliomas. Moreover, IDHmut1p/19qdel tumors had the best prognosis and IDHwt tumors had the worst prognosis among G3 gliomas (p < 0.001). PFS was significantly associated with the 95th percentile values of nCBV and nCBF in G3 gliomas. There was no significant difference in neither PFS nor imaging features between IDHwt G3 gliomas and IDHwt GBMs. Conclusion: We found significant differences in MRI features, including volumetrics, CBV, and ADC, in G3 gliomas, according to IDH mutation and 1p/19q codeletion status, which can be utilized for the prediction of genomic profiles and the prognosis of G3 glioma patients. The MRI signatures and prognosis of IDHwt G3 gliomas tend to follow those of IDHwt GBMs.

Improvement of Pregnancy Rate in Preimplantation Genetic Diagnosis with FISH Procedure by the Laboratory Optimization and Experiences (형광직접보합법을 이용한 착상전 유전진단 기법의 최적화와 경험 축적에 의한 임신율의 향상)

  • Lim, Chun-Kyu;Min, Dong-Mi;Lee, Hyoung-Song;Byun, Hye-Kyung;Park, So-Yeon;Ryu, Hyun-Mee;Kim, Jin-Young;Koong, Mi-Kyoung;Kang, Inn-Soo;Jun, Jin-Hyun
    • Clinical and Experimental Reproductive Medicine
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    • v.31 no.1
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    • pp.29-39
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    • 2004
  • Objectives: This study was performed to evaluate the laboratory system for successful PGD using fluorescence in situ hybridization (FISH) and the clinical outcome of PGD cycles in five years experiences. Methods: A total of 181 PGD-FISH cycles of 106 couples were performed, and diagnosed chromosome normality in the preimplantation embryos. The laboratory and clinical data were classified by the following optimization steps, and statistically analyzed. Phase I: Blastomere biopsy with two kinds of pipettes, removal of cytoplasmic proteins without treatment of pepsin and culture of biopsied embryos with single medium; Phase II: Blatomere biopsy with single pipette, removal of cytoplasmic proteins with pepsin and culture of biopsied embryos with single medium; Phase III: Blastomere biopsy with single pipette, removal of cytoplasmic proteins with pepsin and culture of biopsied embryos with sequential media. Results: A total of 3, 209 oocytes were collected, and 83.8% (2, 212/2, 640) of fertilization rate was obtained by ICSI procedure. The successful blastomere biopsies were accomplished in 98.6% (2, 043/2, 071) of embryos, and the successful diagnosis rate of FISH was 94.7% (1, 935/ 2, 043) of blastomeres from overall data. Embryo transfers with normal embryos were conducted in 93.9% (170/181) of started cycles. There was no difference in the successful rate of biopsy and diagnosis among Phase I, II and III. However, the pregnancy rate per embryo transfer of Phase III (38.8%, 26/67) was significantly (p<0.05) higher than those of Phase I (13.9%, 5/36) and Phase II (14.9%, 10/67). Conclusions: The laboratory optimization and experience for the PGD with FISH procedure can increase the pregnancy rate to 38.8% in the human IVF-ET program. Our facility of PGD with FISH provides the great possibility to get a normal pregnancy for the concerned couples by chromosomal aberrations.

Loss of Heterozygosity on the Long Arm of Chromosome 21 in Non-Small Cell Lung Cancer (비소세포폐암에서 21q 이형체 소실)

  • Chai, Po-Hee;Bae, Nack-Cheon;Lee, Eung-Bae;Park, Jae-Yong;Kang, Kyung-Hee;Kim, Kyung-Rok;Bae, Moon-Seob;Cha, Seung-Ik;Chae, Sang-Chul;Kim, Chang-Ho;Jung, Tae-Hoon
    • Tuberculosis and Respiratory Diseases
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    • v.50 no.6
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    • pp.668-675
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    • 2001
  • Background : Non-smalll lung cancer(NSCLC) develops as a result of the accumulation of multiple genetic abnormalities. Loss of heterozygosity(LOH) is one of the most frequent genetic alterations that is found in NSCLC, and the chromosomal regions that display a high rate of LOH are thought to harbor tumor suppressor genes(TSGs). This study was done to determine the frequency of LOH in 21q with the aim of identifying potential TSG loci. Method : Thirty-nine surgically resected NSCLCs were analysed. Patients peripheral lymphocytes were used as the source of the normal DNA. Five microsatellite Inarkers of 21q were used to study LOH : 21q21.1(D21S1432, and D21S1994); 21q21.2-21.3(D21S1442) ; 21q22.1(21S1445) ; and 21q22.2-22.3(D21S266). The fractional allelic loss(FAL) in a tumor was calculated as the ratio of the number of markers showing LOH to the number of informative markers. Result : LOH for at least one locus was detected in 21 of 39 tumors(53.8%). Among the 21 tumors with LOH, 5(21.8%) showed LOH at almost all informative loci. Although statistically not significant, LOH was found more frequently in squamous cell carcinomas(15 of 23, 65.2%) than in adenocarcinomas(6 of 16, 37.5%). In the squamous cell carcinomas the frequency of LOH was higher in stage II-III (80.0%) than in stage I (53.8%). The FAL value in squamous cell carcinomas($0.431{\pm}0.375$) was significantly higher than that found in adenocarcinomas($0.l92{\pm}0.276$). Conclusion : These results suggest that LOH on 21q may be involved in the development of NSCLC, and that TSG(s) that contribute to the pathogenesis of NSCLC may exist on 21q.

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Comparison of Nuclear Status and Developmental Potential between Polar Body Extruded Oocytes and Non-extruded Oocytes on in vitro Maturation and Development of Porcine Follicular Oocytes (돼지 난모세포의 체외 성숙 후 극체 방출 및 미방출란의 핵형과 배발달율)

  • Kim, H.J.;Cho, S.R.;Choe, J.Y.;Choi, S.H.;Han, M.H.;Son, D.S.;Kim, Y.G.;Lee, S.S.;Ryu, I.S.;Kim, I.C.;Kim, I.H.;Im, K.S.
    • Journal of Embryo Transfer
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    • v.21 no.3
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    • pp.169-175
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    • 2006
  • The objective of this study was carried out to examine the polar body extrusion of in vitro matured porcine follicular oocytes as a non-invasive marker of oocyte quality to know the developmental competence in advance. The porcine oocytes matured for 48 hours were examined the polar body extrusion and some parts were stained. The examined oocytes were matured for additional $16{\sim}18$ hours and activated with 7% ethanol and cultured in $5{\mu}g/ml$ cytochalasin B for 5 hours for diploid formation. The treated oocytes were washed and cultured for 7 days. The polar body extrusion and degeneration rates were varied with $9.9{\sim}52.4%$ and $21.4{\sim}61.8%$ by repetition. The polar body extruded oocytes were shown the polar body chromosome and metaphase II plate by staining. However the non-extruded oocytes were shown expanded nucleus with 39.1%, premature chromosome condensation with 19.6%, metaphase I plate with 10.9 %, metaphase II with 13%, condensed chromatin with 6.5%, and absent nuclear material with 8.7%. The oocytes that were not examined for the polar body extrusion were cleaved 45.0%, and developed to blastocyst stage with 11.3%. In examined oocytes for polar body extrusion,. the polar body extruded oocytes were cleaved 94.2% and developed with 42.5%. This result suggests that discarding of the degenerating oocytes and oocytes that not extruded polar body will be effective for experiments of culturing effect in porcine embryos and embryo biotechnology.

Phylogeny and Conservation of the Genus Bupleurum in Northeast Asia with Special Reference to B. latissimum, Endemic to Ulleung Island in Korea (울릉도 고유종인 섬시호를 중심으로 동북아시아 시호속 식물의 계통과 보전생물학)

  • Ahn, Jin-Kab;Lee, Hee-Cheon;Kim, Chul-Hwan;Lim, Dong-Ok;Sun, Byooog-Yoon
    • Korean Journal of Environment and Ecology
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    • v.22 no.1
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    • pp.18-34
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    • 2008
  • Based on external morphology, each of five species can be classified into three groups: 1) B. falcatum group (B. falcatum, B. scorzonerifolium), 2) B. euphorbioides group (B. euphorbioides) and 3) B. longiradiatum group (B. longiradiatum, B. latissimum). B. falcatum group has cauline leaves linear or lanceolate in shape and attenuate at base and not surrounding the stem. In contrast, B. longiradiatum group and B. euphorbioides group have cauline leaves ovate, lanceolate or panduriform in shape and auriculate or cordate at base and completely surrounding the stem. The inflorescence is basically compound umbels terminated at the apex of stem. But B. euphorbioides group is small in size and pedicels are rather short and the number of the pedicel is ca. 20. On the other hand, B. longiradiatum and B. falcatum groups are large in size and their pedicels are long and the number of the pedicel is around 10. The pore of pollen aperture of B. longiradiatum and B. latissimum is partially projected or not while those of B. falcatum group and B. euphorbioides is usually remarkably projected. The number of somatic chromosomes was counted as 2n=20 in B. falcatum, 2n=12 in B. scorzonerifolium and B. longiradiatum, and 2n=16 in B. euphorbioides and B. latissimum. Although chromosome numbers of B. euphorbioides and B. latissimum are the same, the two species are not likely to relate because the karyotypes of the two species are different from each other. Based on these observations, it can be concluded that B. latissimum is most closely related to B. longiradiatum. However, molecular data indicated that the species is probably related to B. bicaule distributed in central Siberia. In terms of conservation of B. latissimum, overexploitation by human and grazing by goat are most threatened factors.

Rapid prenatal diagnosis of Down syndrome and Edward syndrome by fluorescence In situ hybridization : Clinical experience with 309 cases (FISH를 이용한 다운증후군과 에드워드증후군의 신속한 산전확인 : 309예의 임상적 고찰)

  • Kang, Jin-Hee;Lee, Sook-Hwan;Park, Sang-Hee;Park, Ji-Hyun;Kim, Ji-Youn;Han, Won-Bo;Kim, In-Hyun;Park, Sang-Won;Jang, Jin-Beum;Lee, Kyoung-Jin;Park, Hee-Jin;Jun, Hye-Sun;Lee, Kyung-Ju;Shin, Joong-Sik;Cha, Dong-Hyun
    • Journal of Genetic Medicine
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    • v.4 no.1
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    • pp.64-71
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    • 2007
  • Purpose : The purpose of this study was to evaluate the clinical utility of rapid detection of Down syndrome and Edward syndrome by Interphase Fluorescence in Situ Hybridization (FISH) analysis. Methods : Aretrospective study in 309 cases of amniotic fluid samples, analysed by interphase FISH with DNA probes specific to chromosome 18 and 21, was performed. All FISH results w ere compared with conventional cytogenetic karyotypings. Results : The results were considered as informative and they were obtained within 48 hrs. A case of Down syndrome and a case of Edward syndrome were diagnosed by FISH and confirmed by subsequent cytogenetic analysis. In 12 cases with normal FISH results, the cytogenetic analysis showed a case of partial trisomy 22, three cases of sex chromosomal aneuploidy, two cases of mosaicism, two cases of microdeletion, and four cases of structural rearrangement. Conclusion : FISH is a rapid and effective diagnostic method, which can be used as an adjunctive test to cytogenetic analysis, for prenatal identification of chromosome aneuploidies. For the more genome-wide screening with variety of probes, the technique of FISH is both expensive and labor-intensive.

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Activation and Abnormalities of Cell Cycle Regulating Factor in Head and Neck Squamous Cell Carcinoma Cell Lines: Abnormal Expression of CDKN2 Gene in Laryngeal Squamous Cell Carcinoma (두경부 편평상피세포암 세포주에서 세포주기조절인자의 활성 및 이상 : 후두편평상피세포암에서 종양억제유전자 CDKN2 유전자의 발현이상)

  • Song, Si-Youn;Han, Tae-Hee;Bai, Chang-Hoon;Kim, Yong-Dae;Song, Kei-Won
    • Journal of Yeungnam Medical Science
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    • v.22 no.2
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    • pp.166-182
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    • 2005
  • Background: Cyclin-dependent kinase (CDK) inhibitors are family of molecules that regulate the cell cycle. The CDKN2, a CDK4 inhibitor, also called p16, has been implicated in human tumorigenesis. The CDKN2 inhibits the cyclin/CDK complexes which regulate the transition from G1 to S phase of cell cycle. There is a previous report that homozygous deletion of CDKN2 region on chromosome 9p21 was detected frequently in astrocytoma, glioma and osteosarcoma, less frequently in lung cancer, leukemia and ovarian cancer, but not detected in colon cancer and neuroblastoma. However, little is known about the relationship between CDKN2 and laryngeal cancer. Therefore this study was initiated to investigate the role of CDKN2 in human laryngeal squamous cell carcinoma development.1) Materials and methods: We used 5 human laryngeal carcinoma cell lines whether they have deletions or losses of CDKN2 gene expression by DNA-PCR or RT-PCR, respectively. We examined 8 fresh frozen human laryngeal cancer tissues to detect the loss of heterozygosity (LOH) of CDKN2. PCR was performed by using microsatellite markers of short arm of human chromosome 9 (D9S126, D9S144, D9S156, D9S161, D9S162, D9S166, D9S171, D9S200 and D9SIFNA). For informative cases, allelic loss was scored if the signal of one allele was significantly decreased in tumor DNA when compared to the same allele in normal DNA. Results: The CDKN2 DNA deletion was observed in 3 cell lines. The CDKN2 mRNA expression was observed in only one cell line, which was very weak. LOH was detected in 7 cases (87.5%). Conclusion: These results suggest that CDKN2 plays a role in the carcinogenesis of human laryngeal squamous cell carcinoma.

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Identification of Leaf Blast Resistance Genes Derived from a Korean Weedy Rice, Ganghwaaengmi 11 (잡초성벼인 강화앵미11 유래 잎도열병 저항성 유전자 탐색)

  • Suh, Jung-Pil;Cho, Young-Chan;Kim, Jeong-Ju;Shin, Young-Seop;Yang, Chang-Ihn;Roh, Jae-Hwan;Kim, Yeon-Gyu
    • Korean Journal of Breeding Science
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    • v.42 no.4
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    • pp.390-396
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    • 2010
  • A weedy rice, Ganghwaaengmi 11, shows high level of leaf blast resistance. The chromosomal number and locations of genes conferring the leaf blast resistance were detected by QTL (quantitative trait loci) analysis using SSR markers in the 120 RILs (recombinant inbred lines) derived from the cross between Nagdongbyeo and Ganghwaaengmi 11. Ganghwaaengmi 11 expressed compatibility with 20 of the 45 inoculated blast isolates, in contrast to Nagdongbyeo with 44 compatible isolates. To identify QTLs affecting partial resistance, RILs were assessed in upland blast nursery in three regions and inoculated with selected nine blast isolates. QTLs for resistance to blast isolates were identified on chromosomes 7, 11 and 12. Three QTLs associated with blast resistance in nursery test at three regions were also detected on chromosomes 7, 11 and 12. The QTL commonly detected on chromosome 12 was only increased blast resistance by Ganghwaaengmi 11 allele. This QTL accounted for 60.3~78.6% of the phenotypic variation in the blast nursery test. OSR32 and RM101 markers tightly linked to QTL for blast resistance on chromosome 12 might be useful for marker-assisted selection (MAS) and gene pyramiding to improve the blast resistance of japonica rice.

The embryological studies on the interspecific hybrid of ginseng plant (Panax ginseng x P. Quiuquefolium) with special references to the seed abortion (인삼의 종간잡종 Panax ginseng x P Quinquefoilium의 발생학적 연구 특히 결실불능의 원인에 관하여)

  • Jong-Kyu Hwang
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.5 no.1
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    • pp.69-86
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    • 1969
  • On the growing of the interspecific hybrid ginseng plant, the phenomena of hybrid vigoures are observed in the root, stem, and leaf, but it can not produce seeds favorably since the ovary is abortive in most cases in interspecific hybrid plants. The present investigation was undertaken in an attempt to elucidate the embryological dses of the seed failure in the interspecific hybrid of ginseng (Panax Ginseng ${\times}$ P. Quinque folium). And the results obtained may be summarized as follows. 1). The vegetative growth of the interspecific hybrid ginseng plant is normal or rather vigorous, but the generative growth is extremely obstructed. 2). Even though the generative growth is interrupted the normal development of ovary tissue of flower can be shown until the stage prior to meiosis. 3). The division of the male gameto-genetic cell and the female gameto-genetic cell are exceedingly irregular and some of them are constricted prior to meiosis. 4). At meiosis in the microspore mother cell of the interspecific hybrid, abnormal division is observed in that the univalent chromosome and chromosome bridge occure. And in most cases, metaphasic configuration is principally presented as 23 II+2I, though rarely 22II+4I is also found. 5). Through the process of microspore and pollen formation of F1, the various developmental phases occur even in an anther loclus. 6). Macro, micro and empty pollen grains occur and the functional pollen is very rare. 7). After the megaspore mother cell stage, the rate of ovule development is, on the whole, delayed but the ovary wall enlargement is nearly normal. 8). Degenerating phenomena of ovules occur from the megaspore mother cell stage to 8-nucleate embryo sac stage, and their beginning time of constricting shape is variously different. 9). The megaspore arrangement in the parent is principally of the linear type, though rarely the intermediate type is also observed, whereas various types, viz, linear, intermediate, Tshape, and I shape can be observed in hybrid. 10). After meiosis, three or five megaspore are some times counted. 11). Charazal end megaspore is generally functional in the parents, whereas, in F1, very rarely one of the center megaspores (the second of the third megaspore) grows as an embryo sac mother cell. 12). In accordance with the extent of irregularity or abnormality in meiosis, division of embryo sac nuclei and embryo sac formation cause more nucellus tissue to remain within th, embryo sac. 13). Even if one reached the stage of embryo sac formation, the embryo sac nuclei are always precarious and they can not be disposed to theil proper, respective position. 14). Within the embryo sac, which is lacking the endospermcell, the 4-celled proembryo, linear arrangement, is observed. 15). Through the above respects, the cause of sterile or seed failure of interspecific hybrid would be presumably as follows, By interspecific crossing gene reassortments takes place and the gene system influences the metabolism by the interference of certain enzyme as media. In the F1 plant, the quantity and quality of chemicals produced by the enzyme system and reaction system are entirely different from the case of the parents. Generally, in order to grow, form, and develop naw parts it is necessary to change the materials and energy with reasonable balance, whereas in the F1 plant the metabolic process becomes abnormal or irregular because of the breakdown of the balancing. Thus the changing of the gene-reaction system causes the alteration of the environmental condition of the gameto-genetic cells in the anther and ovule; the produced chemicals cause changes of oxidatio-reduction potential, PH value, protein denaturation and the polarity, etc. Then, the abnormal tissue growing in the ovule and emdryo sac, inhibition of normal development and storage of some chemicals, especially inhibitor, finally lead to sterility or seed failure. Inconclusion, we may presume that the first cause of sterile or seed abortion in interspecific hybrids is the gene reassortment, and the second is the irregularity of the metabolic system, storage of chemicals, especially inhibitor, the growth of abnormal tissue and the change of the polarity etc, and they finally lead to sexual defect, sterility and seed failure.

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