• Title/Summary/Keyword: Chromosome analysis

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The Cytoskeletal and Chromosomal Constitution of Vitrified Immature Mouse Oocytes (초자화동결된 생쥐 미성숙란의 세포골격과 염색체성상)

  • Park, Se-Pill;Yi, Bong-Kyung;Kim, Eun-Young;Nam, Hwa-Kyung;Lee, Keum-Sil;Yoon, San-Hyun;Chun, Kil-Saeng;Lim, Jin-Ho
    • Clinical and Experimental Reproductive Medicine
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    • v.26 no.3
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    • pp.363-368
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    • 1999
  • This study was to confirm whether the vitrification method using EFS40 freezing solution has detrimental effect on the cytoskeleton and chromosome constitution of the immature mouse oocytes by indirect immunocytochemistry and chromosome analysis. Immature mouse oocytes were vitrified using EFS40 (40% EG, 18% ficoll, 0.5 M sucrose diluted in M2 medium), thawed and then survived oocytes were in vitro matured for 16 hr. When the microtubule morphology and micro filament distribution in vitrified-thawed immature mouse oocytes were examined, normal percentage of two cytoskeleton in vitrified group (93.9 and 100.0%) was not significantly different from that in control (100.0 and 100.0%) and exposed group (94.4 and 100.0%). The rate of oocytes containing a normal chromosome number in vitrified group was 65.8%, this result was not significantly different from that in control (79.6%) and exposed group (69.0%). These results indicated that exposure to cryoprotectant or freezing has not effect on the alteration of cytoskeleton morphology and the chromosome constitution of mouse oocytes and that our vitrification methods using EFS40 freezing solution was suitable for the cryopreservation of immature mouse oocytes.

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Chromosome Analysis in Clinical Samples by Chromosome Diagnostic System Using Fluorescence in Situ Hybridization (국산 Fluorescence in Situ Hybridization 시스템을 이용한 다양한 검체에서의 염색체 분석)

  • Moon, Shin-Yong;Pang, Myung-Geol;Oh, Sun-Kyung;Ryu, Buom-Yong;Hwang, Do-Yeong;Jung, Byeong-Jun;Choe, Jin;Sohn, Cherl;Chang, Jun-Keun;Kim, Jong-Won;Kim, Seok-Hyun;Choi, Young-Min
    • Clinical and Experimental Reproductive Medicine
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    • v.24 no.3
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    • pp.335-340
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    • 1997
  • Fluorescence in situ hybridization (FISH) techniques allow the enumeration of chromosome abnormalities and from a great potential for many clinical applications. In order to produce quantitative and reproducible results, expensive tools such as a cooled CCD camera and a computer software are required. We have developed a Chromosome Image Processing System (Chips) using FISH that allows the detection and mapping of the genetic aberrations. The aim of our study, therefore, is to evaluate the capabilities of our original system using a black-and-white video camera. As a model system, three repetitive DNA probes (D18Z1, DXZ1, and DYZ3) were hybridized to variety different clinical samples such as human metaphase spreads and interphase nuclei obtained from uncultured peripheral blood lymphocytes, uncultured amniocytes, and germ cells. The visualization of the FISH signals was performed using our system for image acquisition and pseudocoloring. FISH images were obtained by combining images from each of probes and DAPI counterstain captured separately. Using our original system, the aberrations of single or multiple chromosomes in a single hybridization experiment using chromosomes and interphase nuclei from a variety of cell types, including lymphocytes, amniocytes, sperm, and biopsied blastomeres, were enabled to evaluate. There were no differences in the image quality in accordance with FISH method, fluorochrome types, or different clinical samples. Always bright signals were detected using our system. Our system also yielded constant results. Our Chips would permit a level of performance of FISH analysis on metaphase chromosomes and interphase nuclei with unparalleled capabilities. Thus, it would be useful for clinical purposes.

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Prenatal Diagnosis of a Satellited Chromosome 8p Results from a de novo Cryptic Translocation between Chromosomes 8 and 22 (산전 진단에서 관찰된 8번과 22번 염색체 사이의 미세 전좌에 의한 8번 염색체 단완 위성체)

  • Oh, Ah-Rum;Lee, Bom-Yee;Choi, Ene-Yuong;Ryu, Hyun-Mee;Lee, Seung-Jae;Jung, Ji-Ye;Park, So-Yeon
    • Journal of Genetic Medicine
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    • v.8 no.2
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    • pp.135-138
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    • 2011
  • The authors of the present study report the prenatal detection of a chromosomal abnormality with additional satellites on the distal short arm of chromosome 8. A 35-year-old woman was referred for amniocentesis because of her advanced maternal age and positive result for maternal serum screening test. Cytogenetic analysis of cultured amniocytes showed a satellite 8p chromosome. The satellite 8p chromosome was positive for nucleolus organizer region (NOR) staining. The parents' karyotypes were normal. Fluorescence in situ hybridization (FISH) study for metaphases of fetal amniocytes revealed a cryptic translocation of chromosomes 8p and 22p. The fetal karyotype was described as 46,XY,8ps.ish t(8;22)(p23.3;p11.2) (D8S504-;D8S504+)dn. The parents decided to continue the pregnancy and a phenotypically normal boy was born at 38 weeks of gestation. In case of de novo terminal NORs detected prenatally, more accurate cytogenetic and molecular analysis should be performed in order to rule out cryptic chromosomal rearrangement among other chromosomes.

Identification of Sex-Specific DNA Sequences in the Chicken (닭의 성특이적 DNA 분리)

  • Song, K.D.;Shin, Y.S.;Han, Jae Y.
    • Korean Journal of Poultry Science
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    • v.20 no.4
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    • pp.177-188
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    • 1993
  • This study was performed to find out the reasonable sexing methods In the chicken, obtain the basic information for the mechanisms related to chicken sexual differentiation and identify the genes which known to involved in chicken sex differentiation. The chromosome analysis of chicken embryonic fibroblast was a simple method to determine sex of chicken by means of Z and W chromosome identification. The bands of female chicken genomic DNA digested with Xho Ⅰ and Eco RI restriction endonuclease showed to be useful in direct sex determination and these repetitive sequences of Xho Ⅰ and Eco RI families were proposed to be very homologous in their sequences by colony hybridization analysis. Seven of 150 random primers were selected to amplify the W chromosome-specific band by using arbitrary primed PCR and three of them were useful to identify the sex of chicken. To identify the sex differentiation genes in the chicken, PCR for the amplification of ZFY and SRY sequences was performed. ZFY and SRY sequences were amplified successfully in the chicken genome, implying that chicken genome might have the sex-related conserved sequences similar to mammalian ones. The PCR products of ZFY amplification were the same in both sexes, suggesting that these sequences may be located on autosome or Z chromosome. The profile of PCR amplification for SRY sequences showed variation between sexes, but this result was not enough to specify whether the SRY gene in chicken is on the autosome or sex chromosome.

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WIP ANALYSIS OF FLEXIBLE MANUFACTURING SYSTEM BY GENETIC ALGORITHMS (유전자 알고리즘을 이용한 유연생산시스템의 작업프로세스 스케쥴링분석)

  • 김정원
    • Proceedings of the Korea Society for Simulation Conference
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    • 1998.10a
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    • pp.142-146
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    • 1998
  • In this paper, we suggests a WIP(work in process) of FMS analysis methods based on the Genetic algorithm. We conjoined both the assignment and the scheduling problem in order to create a new representation scheme for a chromosome and a mutation operators.

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Outcome of Preimplantation Genetic Diagnosis in Patients with Klinefelter Syndrome (클라인펠터 증후군 환자에서 착상전 유전진단의 결과)

  • Kim, Jin-Yeong;Lim, Chun-Kyu;Jun, Jin-Hyun;Park, So-Yeon;Seo, Ju-Tae;Cha, Sun-Hwa;Koong, Mi-Kyoung;Kang, Inn-Soo
    • Clinical and Experimental Reproductive Medicine
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    • v.31 no.4
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    • pp.253-260
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    • 2004
  • Objectives: Klinefelter syndrome is the most common genetic cause of male infertility and presents with 47, XXY mainly or 46, XX/47, XXY mosaicism. It is characterized by hypogonadism and azoospermia due to testicular failure, however, sporadic cases of natural pregnancies have been reported. With the development of testicular sperm extraction (TESE) and intracytoplasmic sperm injection (ICSI), sperm can be retrieved successfully and ART is applied in these patients for pregnancy. It has been suggested that the risk of chromosome aneuploidy for both sex chromosome and autosome is increased in the sperms from 47, XXY germ cells. Considering the risk for chromosomal aneuploidy in the offspring, preimplantation genetic diagnosis (PGD) could be applied as a safe and more effective treatment option in Klinefelter syndrome. The aim of this study is to assess the outcome of PGD cycles by using FISH for sex chromosome and autosome in patients with Klinefelter syndrome. Materials and Methods: From Jan. 2001 to Dec. 2003, PGD was attempted in 8 cases of Klinefelter syndrome but TESE was failed to retrieve sperm in the 3 cases, therefore PGD was performed in 8 cycles of 5 cases (four 47, XXY and one 46, XY/47, XXY mosaicism). In one case, ejaculated sperm was used and in 4 cases, TESE sperm was used for ICSI. After fertilization, blastomere biopsy was performed in $6{\sim}7$ cell stage embryo and the chromosome aneuploidy was diagnosed by using FISH with CEP probes for chromosome X, Y and 17 or 18. Results: A total of 127 oocytes were retrieved and ICSI was performed in 113 mature oocytes. The fertilization rate was $65.3{\pm}6.0%$ (mean$\pm$SEM) and 76 embryos were obtained. Blastomere biopsy was performed in 61 developing embryos and FISH analysis was successful in 95.1% of the biopsied blastomeres (58/61). The rate of balanced embryos for chromosome X, Y and 17 or 18 was $39.7{\pm}6.9%$. The rate of aneuploidy for sex chromosome (X and Y) was $45.9{\pm}5.3%$ and $43.2{\pm}5.8%$ for chromosome 17 or 18, respectively. Embryo transfer was performed in all 8 cycles and mean number of transferred embryos was $2.5{\pm}0.5$. In 2 cases, clinical pregnancies were obtained and normal 46, XX and 46, XY karyotypes were confirmed by amniocentesis, respectively. Healthy male and female babies were delivered uneventfully at term. Conclusion: The patients with Klinefelter syndrome can benefit from ART with TESE and ICSI. Considering the risk of aneuploidy for both sex chromosome and autosome in the sperms and embryos of Klinefelter syndrome, PGD could be offered as safe and more effective treatment option.

The Genetic Variation of Pinus densiflora and Pinus thunbergii by Giemsa C-banding (소나무 및 곰솔의 염색체(染色體) C-분염(分染)에 의한 유전변이(遺傳變異))

  • Park, Sang Jun;Son, Doo Sik
    • Journal of Korean Society of Forest Science
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    • v.80 no.4
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    • pp.383-392
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    • 1991
  • The genetic variation of Pinus densiflora and Pinus thunbergii by Giemsa C-banding was investigated and the results were as follows : 1. From Karyotype analysis of P. densiflora and P. thunbergii by Giemsa C-banding, somatic chromosome numbers of both species were 2n=24. 2. Chromosome of P. densiflora was M-type in arm ratio and they were no variation among individuals but variation in number and position of the secondary constriction and telomere banding among individuals. 3. P. thunbergii showed also M-type in arm ratio of chromosome, however, there was no variation in both number and position of the secondary constriction among individuals. 4. From chromosome C-banding, bands were appeared in the position of centromere and the secondary constriction in both P. densiflora and P. thunbergii. 5. In P. densiflora, the bands were shown on the secondary-constriction in chromosome No. 3, 4 and 7 of all individuals and the bands of the secondary constriction in chromosome No. 1, 2 and 5 showed variation among individuals. In chromosome No. 9, 10 and 11, the bands were shown in telomere and showed variation among individuals. 6. In P. thunbergii, the bands were shown on the secondary constriction in chromosome No. 2, 3, 7 and 8, and were shown no variation among individuals. There was no band on telomere. 7. The genetic variation by C-banding were shown in P. densiflora among individuals but no in P. thunbergii, and were shown on the secondary constriction in chromosome No. 4 of Pinus densiflora and in clnromosome No. 8 of Pinus thunbergii. These are the difference between the two species by C-banding.

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A cytotaxonomic study of Vicia L. (Fabaceae) in Korea (한국산 나비나물속(콩과)의 세포분류학적 연구)

  • Nam, Bo Mi;Park, Myung Soon;Oh, Byoung Un;Chung, Gyu Young
    • Korean Journal of Plant Taxonomy
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    • v.42 no.4
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    • pp.307-315
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    • 2012
  • Somatic chromosome numbers for 10 taxa and karyotypes analysis for 6 taxa of Korean Vicia were investigated. Somatic chromosome numbers of treated taxa were 2n = 12, 14 or 24 and therefore they proved to be diploid or tetraploid with basic chromosome numbers of x = 6 or 7. The chromosome number of V. hirticalycina (2n = 2x = 12) was reported for the first time in this study. The chromosome numbers of nine taxa were the same as in previous studies; V. angustifolia (2n = 2x = 12), V. cracca (2n = 4x = 24), V. hirsuta (2n = 2x = 14), V. tetrasperma (2n = 2x = 14 + 2B), V. amurensis (2n = 2x = 12), V. chosenensis (2n = 2x = 12, 12 + 2B), V. unijuga (2n = 4x = 24), V. unijuga f. minor (2n = 4x = 24), V. venosa var. cuspidata (2n = 4x = 24). The karyotypes of V. cracca, V. amurensis, V. hirticalycina, V. unijuga, V. unijuga f. minor, V. venosa var. cuspidata were observed as 2 m + 8 sm + 2 st, 2 m + 2 sm + 2 st, 3 m + 1 sm + 2 st, 4 m + 6 sm + 2 st, 4 m + 6 sm + 2 st, 4 m + 8 sm, respectively.

A karyotype analysis of Lactuca (Asteraceae) in Korea (한국산 왕고들빼기속(Lactuca)의 핵형분석)

  • Yang, Ji Young;Choi, Kyung;Pak, Jae-Hong
    • Korean Journal of Plant Taxonomy
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    • v.39 no.1
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    • pp.24-28
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    • 2009
  • The chromosome morphology of two Korean Lactuca (L. indica, L. triangulata) is reported herein. The chromosome number and karyotype of a naturalized plant, L. scariola are reported for the first time. The basic chromosome number was x = 9. Polyploid forms were not recorded. The karyotypes of L. indica, L. scariola, and L. triangulata were 2 n = 18 = 2 m+ 7 sm, 2 n = 18 = 1 m + 6 sm+ 2 st, 2 n = 18 = 2 m + 5 sm+ 2 st, respectively. Both L. indica and L. triangulata had satellites at the ends of their short arms. The haploid genome lengths of L. indica, L.scariola, and L. triangulata were $56.3{\mu}m$, $35.3{\mu}m$, and $72.5{\mu}m$ respectively. Each chromosome length of naturalized L. scariola was $2.7-5.2{\mu}m$; the smallest among Korean Lactuca. The chromosome lengths of L. indica and L. triangulata were $4.7-7.6{\mu}m$ and $2.9-7.9{\mu}m$, respectively. The karyotype of L. scariola differed from that of L.indica and L.triangulata both of which belong to sect. Tuberosae. Therefore, L. scariola is thought to belong to sect. Lactuca subsect. Lactuca.

Efficacy of Primed In Situ Labelling in Determination of HER-2 Gene Amplification and CEN-17 Status in Breast Cancer Tissue

  • Salimi, Mahdieh;Mozdarani, Hossein;Majidzadeh-A, Keivan
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.1
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    • pp.329-337
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    • 2012
  • Considerable attention has been given to the accuracy of HER-2 testing and the correlation between the results of different testing methods. This interest reflects the growing importance of HER-2 status in the management of patients with breast cancer. In this study the detection of HER-2 gene and centromere 17 status was evaluated using dual-colour primed in situ labelling (PRINS) in comparison with fluorescence in situ hybridization (FISH). These two methods were evaluated on a series of 27 formalin fixed paraffin embedded breast carcinoma tumours, previously tested for protein overexpression by HercepTest (grouped into Hercep 1+/0, 2+ and 3+). HER-2 gene amplification (ratio${\geq}2.2$) by PRINS was found in 3:3, 6:21 and 0:3 in IHC 3+, 2+ and 1+/0 cases, respectively. Comparing FISH and IHC (immunohistochemistry), showed the same results as for PRINS and IHC. Chromosome 17 aneusomy was found in 10 of 21 IHC 2+ cases (47.6%), of which 1 (10%) showed hypodisomy (chromosome 17 copy number per cell${\leq}1.75$), 7 (70%) showed low polysomy (chromosome 17 copy number per cell=2.26 - 3.75) and 2 (20%) showed high polysomy (chromosome 17 copy number per cell ${\geq}3.76$). The overall concordance of detection of HER-2 gene amplification by FISH and PRINS was 100% (27:27). Furthermore, both the level of HER-2 amplification and copy number of CEN17 analysis results correlated well between the two methods. In conclusion, PRINS is a reliable, reproducible technique and in our opinion can be used as an additional test to determine HER-2 status in breast tumours.