• Title/Summary/Keyword: Karyotype analysis

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The Implementation of Pattern Classifier or Karyotype Classification (핵형 분류를 위한 패턴 분류기 구현)

  • Eom, S.H.;Nam, K.G.;Chang, Y.H.;Lee, K.S.;Chang, H.H.;Kim, G.S.;Jun, G.R.
    • Proceedings of the KOSOMBE Conference
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    • v.1997 no.11
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    • pp.133-136
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    • 1997
  • The human chromosome analysis is widely used to diagnose genetic disease and various congenital anomalies. Many researches on automated chromosome karyotype analysis has been carried out, some of which produced commercial systems. However, there still remains much room or improving the accuracy of chromosome classification. In this paper, We propose an optimal pattern classifier by neural network to improve the accuracy of chromosome classification. The proposed pattern classifier was built up of multi-step multi-layer neural network(MMANN). We reconstructed chromosome image to improve the chromosome classification accuracy and extracted three morphological features parameters such as centromeric index(C.I.), relative length ratio(R.L.), and relative area ratio(R.A.). This Parameters employed as input in neural network by preprocessing twenty human chromosome images. The experiment results show that the chromosome classification error is reduced much more than that of the other classification methods.

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Cytogenetic Mapping of Carthamus tinctorius L. with Tandemly Repeated DNA Sequences by Fluorescence in situ Hybridization

  • Mancia, Franklin Hinosa;Ju, Yoon Ha;Lim, Ki-Byung;Kim, Jung Sun;Nam, Sang Yong;Hwang, Yoon-Jung
    • Korean Journal of Plant Resources
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    • v.30 no.6
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    • pp.654-661
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    • 2017
  • Dual-color fluorescence in situ hybridization karyotype analysis was created using repetitive sequences including two types of rDNA repeats (45S and 5S rDNAs) and Arabidopsis-type telomere sequence repeats. The somatic metaphase cells of Carthamus tinctorius were observed as diploids (2n=2x=24). A symmetrical or slightly asymmetrical karyotype with seven pairs of metacentric and five pairs of submetacentric chromosomes was observed. The lengths of the somatic metaphase chromosomes ranged from 4.18 to $6.53{\mu}m$, with a total length of $60.71{\mu}m$. One locus of 45S rDNA was located on the pericentromeric regions of three pairs of chromosomes and the other pair was situated on the terminal regions of the short arms of a single pair of chromosomes. One locus of 5S rDNA was detected on the interstitial regions of the short arms of two pairs of chromosomes. Arabidopsis-type telomeric repeats were detected on the terminal regions of all pairs of chromosomes. Co-localization of loci between telomeric repeats and 45S rDNA was observed in a single pair of chromosomes. The results provide additional information for the existing physical mapping project of C. tinctorius and will also serve as a benchmark to a more intricate cytogenetic investigation of C. tinctorius and its related species.

A cytogenetic study of Astragalus koraiensis Y. N. Lee (정선황기의 세포유전학적 연구)

  • Han, Sang Eun;Kim, Hyun-Hee;Heo, Kweon
    • Korean Journal of Plant Taxonomy
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    • v.43 no.2
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    • pp.139-145
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    • 2013
  • This study was carried out to determine the karyotype and chromosomal localizations of 45S and 5S rDNAs using FISH in Astragalus koraiensis. The somatic metaphase chromosome number of this species was 2n = 16 with basic chromosome number of x = 8. The karyotype of A. koraiensis was consisted of six pairs of median region chromosomes(chromosome 1, 3, 4, 5, 6, 8) and two pairs of submedian chromosomes(chromosome 2, 7). Based on the FISH, one pair of 45S rDNA site was detected on the centromeric region of chromosome 5. Whereas, two pair of 5S sites were detected on the short arm of chromosome 4 and centromeric region of chromosome 7, respectively. These are quite different patterns from A. membranaceus, A. membranaceus var. alpinus, and A. mongholicus. Although A. koraiensis is considered as Korean endemic species, therefore, it should be conducted out comparative FISH study with A. sikokianus and A. bhotanensis which are very similar to A. koraiensis morphologically.

Karyotype analysis of cryopreserved mononuclear cells from cord blood (제대혈 단핵세포의 냉동 전.후의 염색체 핵형분석의 실험적 연구)

  • Ku, Ki-Young;Chu, Mi-Ae;Kim, Ji-Yoon;Lee, Kun-Soo
    • Journal of Genetic Medicine
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    • v.5 no.1
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    • pp.55-60
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    • 2008
  • Purpose : The ability to perform chromosome analysis of cryopreserved cord blood mononuclear cells is important for future retrospective studies. We compared the karyotypes of cryopreserved cells with cells before cryopreservation. Methods : One cord blood (CB) sample was obtained from normal healthy volunteer. Karyotype analysis was performed before cryopreservation. After mononuclear cell separation with Ficoll-Hypaque, the mononuclear cells were cryopreserved by programmed controlled-rate freezer and then transferred into the liquid nitrogen ($-196^{\circ}C$) for 3 days. After rapid thawing, cytogenetic analysis was performed as the same method for each sample by different conditions. The samples were divided by three groups. The first group was no culture before cryopreservation, the second group was 72 hours culture before cryopreservation, but no 24 hours culture after thawing and the third group was 72 hours culture before cryopreservation and 24 hours culture after thawing. Results : The chromosome analysis was successful in the second and third groups of CB sample. Conclusion : The successful result from CB samples may suggest the usefulness of long-term cryopreservation for retrospective study in various clinical settings including hematologic malignancies.

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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.

Transmission modes of Pneumocystis carinii among rats observed by karyotype analysis (핵형 추적에 의한 카리니주폐포자충의 전파 양상 확인)

  • 홍성태;류진숙
    • Parasites, Hosts and Diseases
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    • v.30 no.4
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    • pp.283-288
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    • 1992
  • To observe the transmission patterns of karyotype of Pneumocystis carinii (Pc) by rat colonies, three strains of rats, Sprague-Dawlcy(SD), Wistar(W) and Fisher (F) from various animal vendors, were suppressed of their immunity by injection of methyl prednisolone. They were kept for 5 to 13 weeks in 3 different animal rooms, A, B, and C. The purified organisms were prepared in low melting point agarose gel by embedded Iysis method for pulsed field gel electrophoresis. Field inversion gel electrophoresis showed 2 patterns of the kart·otype of Pc. The rooms A and C contained SD rats from the source p, and also the room A was used for F and W rats. However, Pc from all of the SD and F rats in the room A showed same karyotypes, the pattern I. The SD rats from difFerent vendors, M and 5, were reared in the room B, and shared the same Pc karyotypes, the pattern II . The rats of W strain were from the vendor M, and immune-suppressed in the animal room A. Five weeks after the expe- riment, the Pc showed the karyotype pattern II but the pattern became mixed with the type I after 7 to 8 weeks. The Bindings revealed that the animals born and reared in the same animal quarter harbored Pc with same karyotypes. If the animals were kept under immune-suppression in the same room with heavily infected hosts, they could be infected by Pc from their neighbors. The present experimental findings suggest that Pc is transmitted among rats through the air.

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Electrophoretic Karyotypes of Fusarium oxysporum f. sp. lycopersici (Fusarium oxysporum f. sp. lycopersici의 Electrophoretic Karyotype)

  • Kim, Young-Tae;Kim, Hong-Gi
    • The Korean Journal of Mycology
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    • v.27 no.2 s.89
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    • pp.112-118
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    • 1999
  • Strains of Fusarium oxysporum f. sp. lycopersici isolated from Korea, Japan and U.S.A. were used for electrophoretic karyotype (EK) analysis. Chromosome separations on FastLane agarose gels (FMC BioProducts, Rockland, ME), called pulsed field gel electrophoresis (PFGE), were performed by CHEF-DRII apparatus (Bio-Rad Laboratories, Melville, NY) using TAE as a running buffer. To obtain optimal condition for separation of chromosome sized DNAs, variable running conditions such as field strengths, swithching intervals, and running time were applied in CHEF gel electrophoresis. We were able to resolve 9 to 11 chromosome sized DNAs ranging in size from 0.76 to 6.41 Mb in isolates from Korea and estimate that the total genome size was ranging from 35.29 to 38.92 Mb. Distinct differences in length range and genome size exist among isolates from different countries. Isolates from Japan and U.S.A. were resolved 9 to 11 chromosome sized DNAs ranging in size from 1.24 to 6.85 Mb and estimated that the total genome size was ranging from 35.32 to 43.87 Mb. Isolates from variable provinces in Korea had the same or similar chromosomal polymorphism and showed different chromosomal DNA patterns compared to isolates from the other countries.

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Prognostic Significance of TP53 Mutations and Single Nucleotide Polymorphisms in Acute Myeloid Leukemia: A case Series and Literature Review

  • Zeichner, Simon Blechman;Alghamdi, Sarah;Elhammady, Gina;Poppiti, Robert John;Castellano-Sanchez, Amilcar
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.4
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    • pp.1603-1609
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    • 2014
  • Background: The response to treatment and overall survival (OS) of patients with acute myeloid leukemia (AML) is variable, with a median ranging from 6 months to 11.5 years. TP53 is associated with old age, chemotherapy resistance, and worse OS. Using genetic sequencing, we set out to look at our own experience with AML, and hypothesized that both TP53 mutations and SNPs at codon 72 would mimic the literature by occurring in a minority of patients, and conferring a worse OS. Materials and Methods: We performed a pilot study of randomly selected, newly diagnosed AML patients at Mount Sinai Medical Center, diagnosed from 2005-2008 (n=10). TP53 PCR sequencing was performed using DNA from bone marrow smears. Analysis was accomplished using Mutation Surveyor software with confirmation of the variants using the COSMIC and dbSNP databases. Results: Fewer than half of the patients harbored TP53 mutations (40%). There was no significant difference in OS based on gender, AML history, risk-stratified karyotype, or TP53 mutation. There were possible trends toward improved survival among patients less than 60 (11 vs 4 months, p=0.09), Hispanics (8 vs 1 months, p=0.11), and those not harboring SNP P72R (8 vs 2 months, p=0.10). There was a significant improvement in survival among patients with better performance status (28 vs 4 months, p=0.01) and those who did not have a complex karyotype (8 vs 1 months, p=0.03). The most commonly observed TP53 mutation was a missense N310K (40%) and the most commonly observed SNP was P72R (100.0%). Conclusions: Our study confirms previous reports that poor PS and the presence of a complex karyotype are associated with a decreased OS. In our cohort, TP53 mutations were relatively common, occurring more frequently in male patients with an adverse karyotype. Although there was no significant difference in survival between TP53 mutated and un-mutated patients, there was a possible trend toward worse OS among patients with SNP P72R. Larger studies are needed to validate these findings.

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.

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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