• Title/Summary/Keyword: chromosome banding

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Cytogenetic Analysis of All-Female Triploid Olive Flounder Paralichthys olivaceus for Ploidy Verification (전 암컷 3배체 넙치(Paralichthys olivaceus)에 대한 효율적인 세포유전학 분석법)

  • Ko, Min Gyun;Jung, Hyo Sun;Lee, Hyo Bin;Kim, Dong Soo
    • Korean Journal of Fisheries and Aquatic Sciences
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    • v.49 no.5
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    • pp.671-674
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    • 2016
  • We cytogenetically analyzed a triploid King-Nupchi strain of the olive flounder Paralichthys olivaceus to define the simplest, most rapid, and most effective method of ploidy analysis in aquaculture farms. Female triploidy of the flounder King-Nupchi strain was induced by cold shock (3 min post-fertilization at 2-4℃ for 45 min). Triploid induction was confirmed by erythrocyte measurement (nuclear volume, 29.15±2.10 μm3); flow cytometry (2.14±0.03 pg/cell); chromosome count (3N=72); Ag-NOR banding; and silver staining. Silver staining of finned cells obtained using a solid tissue technique was the most effective method of ploidy verification.

A Case of Two SRY Genes in a Tuner's Syndrome Feature (터너증후군 의심환자에서 2개의 SRY 유전자 발현 1예)

  • Park, Sang-Muk;Kim, Yoon-Sik
    • Korean Journal of Clinical Laboratory Science
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    • v.42 no.3
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    • pp.111-115
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    • 2010
  • A 15-year-old female with primary amenorrhea and Tuner's syndrome feature was referred for a chromosome analysis. The karyotype of the patient was 45,X/46,X,der(Y) mosaicism under initial GTG-banding analysis. Fluorescence in situ hybridization (FISH) analysis with probe for CEP X probes and SRY probe (Vysis, Inc. Downers Grove, IL 60515, USA) was carried out. This probe is direct labeled with SpectrumOrange (SRY, Yp11.3) and is available as a single probe or mixed with the CEP X SpectrumGreen probe. SRY SpectrumOrange/CEP X SpectrumGreen hybridized to a specimen obtained from an two isodicentric Y chromosomes. The karyotype of the patient was ish Xcen(DXZ1x1)/Xcen(DXZ1x1), Yp11.3(SRYx2) by using FISH. This karyotype was considered a variant of Tuner syndrome with mixed gonadal dysgenesis (MGD), male pseudohermaphroitism (MPH) and apparently normal male.

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Cytogenetic Analysis of Korean Shinner, Coreoleuciscus splendidus (Cyprinidae) (쉬리, Coreoleuciscus splendidus (Cyprinidae)의 세포유전학적 연구)

  • Kim, Dong-Soo;Song, Ha-Yeun;Bang, In-Chul;Nam, Yoon-Kwon
    • Journal of Aquaculture
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    • v.20 no.2
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    • pp.140-143
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    • 2007
  • Cytogenetic analyses of an endemic species, Coreoleuciscus splendidus (Cyprinidae) was performed including erythrocyte measurement, chromosome count and karyotyping, nucleolar organizing region (NOR) banding and flow cytometric analysis of genome size. C. splendidus had the same modal chromosome number of 2n = 48 between sexes, however, displayed a sex-related dimorphism in their chromosome karyotypes. Males represented a pair of heteromorphic chromosomes which couldn‘t be seen in any female individuals, indicating that the sex determination mechanism of this species should be a typical XX-XY based male heterogamety (female=10M+6SM+8A+XX vs male=10M+6SM+8A+XY). Other cytogenetic features such as Ag-NORs located in a pair of acrocentric chromosomes, estimated nuclear volume ($28{\mu}m^3$) and cellular DNA content (2.4 pg/cell) suggest that genetic recombination might be the main driving force responsible for the evolution of this species rather than the polyploidy-based evolutionary process as in many other Cyprinidae species.

The frequency of chromosomal abnormalities and the prenatal cytogenetic analyses for couples with recurrent abortions

  • Choi, Soo-Kyung;Park, So-Yeon;Han, Jung-Yeol;Ryu, Hyun-Mee;Jun, Jong-Young
    • Journal of Genetic Medicine
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    • v.2 no.2
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    • pp.59-63
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    • 1998
  • Between 1988-1998, cytogenetic analyses were performed for 1,476 couples and 162 women with recurrent abortions. We applied GTG-banding, high resolution-banding and FISH (fluorescent in situ hybridization) techniques in this study. The frequency of balanced translocations was 3.6% (112/3114). Of them, 74 cases (2.38%) were reciprocal translocations and 38 (1.22%) were robertsonian translocations. Chromosome aberrations were more frequent in women (80 cases) than in men (32 cases). No phenotypical abnormalities were found in all carriers who had experienced recurrent spontaneous abortions or experienced giving birth to malformed offsprings. Prenatal cytogenetic analyses were carried out on 40 subsequent pregnancies for carrier couples with balanced translocation. The fetal karyotypes showed that 13 cases (32.5%) were normal, 25 (62.5%) were balanced translocations, and two (6%) were unbalanced translocations. It is believed that the frequency of chromosomal abnormalities in patients with recurrent spontaneous abortion is higher than that of the normal population. Most of the fetal samples showed normal karyotypes or balanced translocations matching that of one of their parents. Although the incidence of chromosomal imbalance in the fetuses was relatively low in prenatal cytogenetic analysis, individuals with balanced translocations are predisposed to giving birth to malformed offsprings with partial trisomy or monosomy. Therefore, we recommend the cytogenetic and the prenatal cytogenetic analysis for those who experiences recurrent abortion as well as in case they become pregnant, to prevent the birth of offsprings with chromosomal abnormalities.

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AFLP analysis to assess genomic stability in Solanum regenerants derived from wild and cultivated species

  • Aversano, Riccardo;Di Dato, Francesco;Di Matteo, Antonio;Frusciante, Luigi;Carputo, Domenico
    • Plant Biotechnology Reports
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    • v.5 no.3
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    • pp.265-271
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    • 2011
  • The cultivated potato as well as its tuber-bearing relatives are considered model plants for cell and tissue culture, and therefore for exploiting the genetic variation induced by in vitro culture. The association between molecular stability and tissue culture in different genetic backgrounds and ploidy levels has already been explored. However, it still remains to be ascertained whether somaclonal variation differs between callus-derived chromosome-doubled and undoubled regenerants. Our research aimed at investigating, through amplified fragment length polymorphism (AFLP) markers, the genetic changes in marker-banding patterns of diploid and tetraploid regenerants obtained from one clone each of Solanum bulbocastanum Dunal and S. cardiophyllum Lindl (both 2n = 2x = 24) and tetraploids from cultivated S. tuberosum L. (2n = 4x = 48). Pairwise comparisons between the banding patterns of regenerants and parents allowed detecting considerable changes associated to in vitro culture both at diploid and tetraploid level. The percentages of polymorphic bands between diploid and tetraploid regenerants were, respectively, 57 and 69% in S. bulbocastanum and 58 and 63% in S. cardiophyllum. On average, the frequencies of lost parental fragments in regenerants were significantly higher than novel bands both in S. bulbocastanum (48 vs. 22%) and S. tuberosum (36 vs. 18%) regenerants. By contrast, in S. cardiophyllum, a similar incidence of the two events was detected (32 vs. 29%). Our results revealed that structural changes after tissue culture process strongly affected the genome of the species studied, but diploid and tetraploids regenerated plants responded equally.

The Karyotype of Fischoedeyius cobboldi (Poirier, 1883) from Korean Cattle (한국산 코볼드쌍구흡충의 핵형 분석)

  • Lee, Jae-Gu;Yun, Rak-Hun;Lee, Ho-Il
    • Parasites, Hosts and Diseases
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    • v.26 no.2
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    • pp.107-111
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    • 1988
  • As a series of systematic classification of paramphistomes, the worms in the rumen and reticulum of 310 Korean cattle slaughtered at Chonju abattoir were collected from February 1986 to June 1987 and were classified by morphology of the worms. Afterwards, the karyotype of Fischoederius cobboldi (Poirier, 1883), which is a very rare species in Korean cattle, was studied with germ cells of the worm by means of modified air-drying method. The chromosome numbers in the haploid and diploid cells of 315 F. cobboldi were n=9 and 2n=18, respectively. The meiotic divisions were observed frequently; 1,904 haploid and 49 diploid cells were recognized. Nine pairs of mitotic chromosomes were homologous in the metaphase stage and the chromosomes were composed of seven medium-sized metacentrics (m) or submetacentrics (sm) and two small-sized submetacentrics (sm). While, meiotic metaphases were composed of seven medium and two small·sized chromosomes. The 3rd, 4th, 2nd and 5th pairs of chromosomes was metacentric having centromere indices of 40.4%, 40.0%, 39.7% and 38.9%, respectively, and the remaining ones were submetacentric with centromere indices from 32,4% to 36.2%. As a series of C-banding method, C-band was shown in centromeric region from all of the haploid germ cells, except chromosome No. 1 which included heterochromatin at the tip region. Chromosomes No, 4, 6 and 9 showed remarkable C-band distinguished from others.

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Pseudoisodicentric X chromosome in a female with primary amenorrhea (원발성 무월경 여성에서 관찰된 Pseudoisodicentric X 염색체)

  • Park, Sang-Hee;Shim, Sung-Han;Chin, Mi-Uk;Kang, Su-Jin;Bae, Sung-Mi;Sohn, Soo-Min;Cha, Dong-Hyun;Yoon, Tae-Ki;Cho, Jung-Hyun
    • Journal of Genetic Medicine
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    • v.5 no.1
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    • pp.61-64
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    • 2008
  • A 24-year-old female with primary amenorrhea was referred for a chromosome study. The karyotype of the patient was 46,X,der(X) under initial GTG-banding analysis. Fluorescence in situ hybridization (FISH) analysis with an LSI Kallmann (KAL) region probe [probes for Xp22.3(KAL) and CEP(X) for control] was carried out. The abnormal chromosome was KAL- and CEP(X)${\times}2$. In addition, interphase FISH analysis revealed the patient to be mosaic for two different cell lines: 90% of cells had three signals and 10% of the cells had only one signal for CEP(X). Based on these results, the karyotype of the patient was 45,X/46,X,psu idic(X)(p22.1), which is partial trisomy for Xqter${\rightarrow}$Xp22.1 and partial monosomy for Xpter${\rightarrow}$Xp22.1. This karyotype was considered a variant of Turner syndrome. In summary, Idic(X) and low-level mosaicism was successfully characterized by FISH analysis with a CEP(X) probe.

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Prevalence of Balanced Chromosomal Translocations in Couples with Abnormal Reproductive Outcomes and Prenatal Cytogenetic Diagnosis in the Carriers (비정상 산과력을 가진 부부에서의 균형전좌형 염색체 보인자의 빈도 및 그 보인자들에서의 산전 세포유전학적 진단)

  • Part, So-Yeon;Kang, Inn-Soo;Ryu, Hyun-Mee;Jun, Jong-Young;Lee, Moon-Hee;Kim, Jin-Mi;Choi, Soo-Kyung
    • Clinical and Experimental Reproductive Medicine
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    • v.24 no.3
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    • pp.393-398
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    • 1997
  • Cytogenetic analysis was performed in 1321 couples and 141 women with history of abnormal reproductive outcome during 1988-1996. The use of high resolution banding technique and fluorescence in situ hybridization (FISH) in the chromosome analysis has made the precise evaluation of chromosome aberrations. The prevalence of balanced chromosomal translocation carriers were 3.74% (104/2783 patients). 70 cases (2.52%) were reciprocal translocation carriers and 34 (1.22%) had Robertsonian translocations. Chromosome aberrations were more frequent in women (73 cases) than in men (31 cases). No phenotypical abnormalities were found in all carriers, but they experienced abnormal reproductive outcomes such as recurrent spontaneous abortions, anomalous offsprings or infertility problem. Prenatal diagnosis was carried out on 36 subsequent pregnancies in balanced translocation carriers. The fetal karyotypes showed that 12 cases (33%) were normal, 22 (61%) were balanced translocations, and two (6%) were unbalanced translocations. It is concluded that the prevalence of balanced chromosomal translocations in patients with abnormal reproductive outcome is higher than that of the normal population. Most of the fetal samples showed normal karyotypes or balanced translocations. Although the incidence of chromosomal imbalance in the fetuses was relatively low in prenatal diagnosis, individuals with balanced translocations are predisposed to abnormal offspring with partial trisomy or monosomy. Therefore we recommend that genetic counselling and cytogenetic prenatal diagnosis for translocation carriers have to be offered to prevent recurrent chromosomal abnormal babies.

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Isolation of a Variant Strain of Pleurotus eryngii and the Development of Specific DNA Markers to Identify the Variant Strain

  • Lee, Hyun-Jun;Kim, Sang-Woo;Ryu, Jae-San;Lee, Chang-Yun;Ro, Hyeon-Su
    • Mycobiology
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    • v.42 no.1
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    • pp.46-51
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    • 2014
  • A degenerated strain of Pleurotus eryngii KNR2312 was isolated from a commercial farm. Random amplified polymorphic DNA analysis performed on the genomic DNA of the normal and degenerated strains of this species revealed differences in the DNA banding pattern. A unique DNA fragment (1.7 kbp), which appeared only in the degenerated strain, was isolated and sequenced. Comparing this sequence with the KNR2312 genomic sequence showed that the sequence of the degenerated strain comprised three DNA regions that originated from nine distinct scaffolds of the genomic sequence, suggesting that chromosome-level changes had occurred in the degenerated strain. Using the unique sequence, three sets of PCR primers were designed that targeted the full length, the 5' half, and the 3' half of the DNA. The primer sets P2-1 and P2-2 yielded 1.76 and 0.97 kbp PCR products, respectively, only in the case of the degenerated strain, whereas P2-3 generated a 0.8 kbp product in both the normal and the degenerated strains because its target region was intact in the normal strain as well. In the case of the P2-1 and P2-2 sets, the priming regions of the forward and reverse primers were located at distinct genomic scaffolds in the normal strain. These two primer sets specifically detected the degenerate strain of KNR2312 isolated from various mushrooms including 10 different strains of P. eryngii, four strains of P. ostreatus, and 11 other wild mushrooms.

Importance of FISH combined with Morphology, Immunophenotype and Cytogenetic Analysis of Childhood/Adult Acute Lymphoblastic Leukemia in Omani Patients

  • Goud, Tadakal Mallana;Al Salmani, Kamla Khalfan;Al Harasi, Salma Mohammed;Al Musalhi, Muhanna;Wasifuddin, Shah Mohammed;Rajab, Anna
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.16
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    • pp.7343-7350
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    • 2015
  • Genetic changes associated with acute lymphoblastic leukemia (ALL) provide very important diagnostic and prognostic information with a direct impact on patient management. Detection of chromosome abnormalities by conventional cytogenetics combined with fluorescence in situ hybridization (FISH) play a very significant role in assessing risk stratification. Identification of specific chromosome abnormalities has led to the recognition of genetic subgroups based on reciprocal translocations, deletions and modal number in B or T-cell ALL. In the last twelve years 102 newly diagnosed childhood/adult ALL bone marrow samples were analysed for chromosomal abnormalities with conventional G-banding, and FISH (selected cases) using specific probes in our hospital. G-banded karyotype analysis found clonal numerical and/or structural chromosomal aberrations in 74.2% of cases. Patients with pseudodiploidy represented the most frequent group (38.7%) followed by high hyperdiploidy group (12.9%), low hyperdiploidy group (9.7%), hypodiploidy (<46) group (9.7%) and high hypertriploidy group (3.2%). The highest observed numerical chromosomal alteration was high hyperdiploidy (12.9%) with abnormal karyotypes while abnormal 12p (7.5%) was the highest observed structural abnormality followed by t(12;21)(p13.3;q22) resulting in ETV6/RUNX1 fusion (5.4%) and t(9;22)(q34.1;q11.2) resulting in BCR/ABL1 fusion (4.3%). Interestingly, we identified 16 cases with rare and complex structural aberrations. Application of the FISH technique produced major improvements in the sensitivity and accuracy of cytogenetic analysis with ALL patients. In conclusion it confirmed heterogeneity of ALL by identifying various recurrent chromosomal aberrations along with non-specific rearrangements and their association with specific immunophenotypes. This study pool is representative of paediatric/adult ALL patients in Oman.