• Title/Summary/Keyword: Chromosome Number

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Clinical Applications of Chromosomal Microarray Analysis (염색체 Microarray 검사의 임상적 적용)

  • Seo, Eul-Ju
    • Journal of Genetic Medicine
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    • v.7 no.2
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    • pp.111-118
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    • 2010
  • Chromosomal microarray analysis (CMA) enables the genome-wide detection of submicroscopic chromosomal imbalances with greater precision and accuracy. In most other countries, CMA is now a commonly used clinical diagnostic test, replacing conventional cytogenetics or targeted detection such as FISH or PCR-based methods. Recently, some consensus statements have proposed utilization of CMA as a first-line test in patients with multiple congenital anomalies not specific to a well-delineated genetic syndrome, developmental delay/intellectual disability, or autism spectrum disorders. CMA can be used as an adjunct to conventional cytogenetics to identify chromosomal abnormalities observed in G-banding analysis in constitutional or acquired cases, leading to a more accurate and comprehensive assessment of chromosomal aberrations. Although CMA has distinct advantages, there are several limitations, including its inability to detect balanced chromosomal rearrangements and low-level mosaicism, its interpretation of copy number variants of uncertain clinical significance, and significantly higher costs. For these reasons, CMA is not currently a replacement for conventional cytogenetics in prenatal diagnosis. In clinical applications of CMA, knowledge and experience based on genetics and cytogenetics are required for data analysis and interpretation, and appropriate follow-up with genetic counseling is recommended.

Method Discrimination for Product Traceability and Identification of Korean Native Chicken using Microsatellite DNA (초위성체를 이용한 한국 재래닭의 원산지 추적 및 개체 식별 방법에 관한 연구)

  • Park, Mi-Hyun;Oh, Jae-Don;Jeon, Gwang-Joo;Kong, Hong-Sik;Sang, Byong-Don;Choi, Chull-Hwan;Yeon, Sung-Hum;Cho, Byong-Wok;Lee, Hak-Kyu
    • Korean Journal of Organic Agriculture
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    • v.12 no.4
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    • pp.451-461
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    • 2004
  • In an animals, identification system has been widely used by ear tag with dummy code and blood typing for parernity. Also, genotyping methods were using for useful mean of individual identification for live animals. In the case of genotyping estimation of gene in population of korean native chicken. In this study, we tested for development of genetic markers used it possible to determination of individual identification system. The candidate genetic markers were used already bow 10 of microstalite DNA sequence information in chromosome No. 1 and 14. Result of analysis for genotyping, the number of alleles of those microstatelites DNA was shown minimal 3 to 12 and the heterozygote expression frequency range was shown from 0.617 to 0.862. In our result, effective number of allele for each microsatellites DNA was shown 3~7, and the accuracy of individual identification was shown nearly 100%, when used with 6 genetic marker. This study was about genotyping method for identification used specific genetic marker form microsatellite DNA in the brand marketing of korean native chicken. Our results suggest that genotyping method used specific genetic marker from microsatellite DNA might be very useful for determination of individual identification.

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Swell Correction of Shallow Marine Seismic Reflection Data Using Genetic Algorithms

  • park, Sung-Hoon;Kong, Young-Sae;Kim, Hee-Joon;Lee, Byung-Gul
    • Journal of the korean society of oceanography
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    • v.32 no.4
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    • pp.163-170
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    • 1997
  • Some CMP gathers acquired from shallow marine seismic reflection survey in offshore Korea do not show the hyperbolic trend of moveout. It originated from so-called swell effect of source and streamer, which are towed under rough sea surface during the data acquisition. The observed time deviations of NMO-corrected traces can be entirely ascribed to the swell effect. To correct these time deviations, a residual statics is introduced using Genetic Algorithms (GA) into the swell correction. A new class of global optimization methods known as GA has recently been developed in the field of Artificial Intelligence and has a resemblance with the genetic evolution of biological systems. The basic idea in using GA as an optimization method is to represent a population of possible solutions or models in a chromosome-type encoding and manipulate these encoded models through simulated reproduction, crossover and mutation. GA parameters used in this paper are as follows: population size Q=40, probability of multiple-point crossover P$_c$=0.6, linear relationship of mutation probability P$_m$ from 0.002 to 0.004, and gray code representation are adopted. The number of the model participating in tournament selection (nt) is 3, and the number of expected copies desired for the best population member in the scaling of fitness is 1.5. With above parameters, an optimization run was iterated for 101 generations. The combination of above parameters are found to be optimal for the convergence of the algorithm. The resulting reflection events in every NMO-corrected CMP gather show good alignment and enhanced quality stack section.

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Characterization of Purple-discolored, Uppermost Leaves of Soybean; QTL Mapping, HyperspectraI Imaging, and TEM Observation

  • JaeJin Lee;Jeongsun Lee;Seongha Kwon;Heejin You;Sungwoo Lee
    • Proceedings of the Korean Society of Crop Science Conference
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    • 2022.10a
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    • pp.187-187
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    • 2022
  • Purple-discoloration of the uppermost leaves has been observed in some soybean cultivars in recent years. The purpose of this study was to characterize the novel phenotypic changes between the uppermost and middle leaves via multiple approaches. First, quantitative trait loci mapping was conducted to detect loci associated with the novel phenotype using 85 recombinant inbred lines (RILs) of the 'Daepung' × PI 96983 population. 180K SNP data, a major quantitative trait locus (QTL) was identified at around 60 cM of chromosome 6, which accounts for 56% of total phenotypic variance. The genomic interval is about ~700kb, and a list of annotated genes includes the T-gene which is known to control pubescence and seed coat color and is presumed to encode flavonoid 35-hydroxylase (F3'H). Based on Hyperspectral imaging, the reflectance at 528-554 nm wavelength band was extremely reduced in the uppermost leaves compared to the middle (green leaves), which is presumed die to the accumulation of anthocyanins. In addition, purple-discolored leaf tissues were observed and compared to normal leaves using a transmission electronic microscope (TEM). Base on observations of the cell organelles, the purple-discolored uppermost leaves had many pigments formed in the epidermal cells unlike the normal middle leaves, and the cell wall thickness was twice as thick in the discolored leaves. The thickness of the thylakoid layer in the chloroplast the number of starch grains, the size of starch all decreased in the discolored leaves, while the number of plastoglobule and mitochondria increased.

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QTLs analysis associated with a major agronomic traits in hanareum2×unkwang rice recombinant inbred line

  • Lee, Ji Yoon;Cho, Jun Hyeon;Kang, Ju Won;Shin, Dong Jin;Kim, Tae Heon;Song, You Chun;Han, Sang Ik;Park, Dong Soo;Son, Young Bo;Cho, Su Min;Oh, Myeong Kyu
    • Proceedings of the Korean Society of Crop Science Conference
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    • 2017.06a
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    • pp.101-101
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    • 2017
  • This study was carried out to improve yield potential of Tongil type rice variety based on QTLs analysis associated with yield component using a total of 386 rice recombinant inbred lines (RILs) derived from a cross between Tongil type high yield variety "Hanareum2" and Japonica variety "Unkwang". 384 SNP markers were used, and 241 of them (62.6%) were polymorphic between Hanareum2 and Unkwang. One hundred forty-four QTLs in 11 traits, such as heading days, were detected. Most of them were 21 QTLs associated with 1000 grain weight and the least was 8 QTLs associated with panicle number. The QTL, qDTH3-2 associated with days to heading was identified to delay heading date for 2.4~2.6 day. Eleven QTLs were associated with culm length. The QTL, qCL1-2 on chromosome 1, was identified to decrease culm length. A total of 16 QTLs were detected for panicle length. Three QTLs, qPL3, qPL6, and qPL7-1 were increased panicle length. Seven QTLs related to panicle number except qPN7 were increased the number of panicle. Four QTLs related to grain number per panicle, qGNP2-1, qGNP6, and qGNP7, were increased the number of grains. Three QTLs associated with grain filling rate, qGFR1, qGFR2-2, and qGFR7-1 were increased grain filling rate. Twelve QTLs associated with 1,000 grain weight. were increased the grain weight. Fourteen QTLs were identified associated with grain length. 10 QTLs, such as qGL1-1, were increasing grain. Fifteen QTLs associated with grain width were detected. The 8 QTLs, such as qGW1-1, were elongated grain width. Seventeen QTLs were associated with grain thickness, and ten QTLs of them were increased grain thickness. We need further study to develop introgression lines of each QTL to improve yield potential of Tongil type rice variety.

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A Comparative Analysis of the Illumina Truseq Synthetic Long-read Haplotyping Sequencing Platform versus the 10X Genomics Chromium Genome Sequencing Platform for Haplotype Phasing and the Identification of Single-nucleotide variants (SNVs) in Hanwoo (Korean Native Cattle) (일루미나에서 제작된 TSLRH (Truseq Synthetic Long-Read Haplotyping)와 10X Genomics에서 제작된 The Chromium Genome 시퀀싱 플랫폼을 이용하여 생산된 한우(한국 재래 소)의 반수체형 페이징 및 단일염기서열변이 비교 분석)

  • Park, Woncheoul;Srikanth, Krishnamoorthy;Park, Jong-Eun;Shin, Donghyun;Ko, Haesu;Lim, Dajeong;Cho, In-Cheol
    • Journal of Life Science
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    • v.29 no.1
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    • pp.1-8
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    • 2019
  • In Hanwoo cattle (Korean native cattle), there is a scarcity of comparative analysis papers using highdepth sequencing and haplotype phasing, particularly a comparative analysis of the Truseq Synthetic Long-Read Haplotyping sequencing platform serviced by Illumina (TSLRH) versus the Chromium Genome Sequencing platform serviced by 10X Genomics (10XG). DNA was extracted from the sperm of a Hanwoo breeding bull (ID: TN1505D2184/27214) provided by Hanwoo research canter and used for the generation of sequence data from both the sequencing platforms. We then identified SNVs using an appropriate analysis pipeline tailored for each platform. The TSLRH and 10XG platforms generated a total of 355,208,304 and 1,632,772,004 reads, respectively, corresponding to a Q30 (%) of 89.04% and 88.60%, respectively, of which 351,992,768(99.09%) and 1,526,641,824(93.50%) were successfully mapped. For the TSLRH and 10XG platforms, the mean depth of the sequencing was 13.04X and 74.3X, the longest phase block was 1,982,706 bp and 1,480,081 bp, the N50 phase block was 57,637 bp and 114,394 bp, the total number of SNVs identified was 4,534,989 and 8,496,813, and the total phased rate was 72.29% and 87.67%, respectively. Moreover, for each chromosome, we identified unique and common SNVs using both sequencing platforms. The number of SNVs was directly proportional to the length of the chromosome. Based on our results, we recommend the use of the 10XG platform for haplotype phasing and SNV identification, as it generated a longer N50 phase block, in addition to a higher mean depth, total number of reads, total number of SNVs, and phase rate, than the TSLRH platform.

Transfer of foreign Genes into the Bradyrhizobium japonicum and their Inoculation Effects on Soybean Plants (Bradyrhizobium japonicum에 외부유전자(外部遺傳子)의 도입(導入)과 대두(大豆)에 대한 접종효과)

  • Kim, Yong-Woong;Kim, Kil-Yong;Rhee, Young-Hwan;Kim, Kwang-Sik
    • Korean Journal of Soil Science and Fertilizer
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    • v.25 no.4
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    • pp.387-393
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    • 1992
  • The fate of inoculum strain of Bradyrhizobium japonicum was studied by using genetically marked strain. RJB6 $str^rnal^rneo^r$. A spontaneous mutant of B. japonicum isolated from nodules was made to have antibiotic resistance against streptomycin and nalidixic acid. In order to make genetically marked strain, neomycine resistant gene(Tn5) was introduced into this spontaneous mutant by conjugation with E. coli containing pSUP2021. The southern hybridization was carried out to confirm the plasmid insertion. Hybridization of chromosome DNA using pSUP2021(Tn5) as a probe showed that Tn5 was located on the 4.9kb fragment of chromosome. Soybean seeds were planted into a soil previously cultivated with soybean and inoculated with different cell densities of marked strain. Fourty days after planting, the inoculation effects on nodule number, nodule fresh weight, plant height and nitrogen content in the plot inoculated with heavy cell suspension was a little better than those in the plot with low inoculation. The recovery percentage of the marked strains was about 12% in the plot inoculated with heavy density cell suspension, while 5% in the plot inoculated with low cell suspension.

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Frequency and Growth Characteristics of Polyploids Occurred Spontaneously in Some Mandarin Hybrids (만다린 잡종에서 자연발생 배수체의 발생 빈도와 생장 특성)

  • Song, Kwan-Jeong;Kim, Sat-Byul;Park, Jae-Hyun;Oh, Eun-Ui;Lee, Kyung-Uk;Kim, Dong-Wook;Kang, Jong-Hoon;Kim, Jeong-Soon;Oh, Jeong-Hwan;Gmitter, Fred G.
    • Horticultural Science & Technology
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    • v.29 no.6
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    • pp.617-622
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    • 2011
  • The study was conducted to determine the efficiency in producing spontaneous polyploids in some mandarin hybrids with different seed embryony. Seed formation by open pollination, frequency of spontaneous polyploids, and plant growth characteristics were evaluated in four mandarin hybrids with polyembryony such as 'Amakusa', 'Haruka', 'Hayaka', and 'Seminole' and two with monoembryony such as 'Benibae' and 'Harehime'. The mean number of the developed seeds per fruit was 10.0 and frequency of small seeds was 25.1%. Polyploids were selected from plants germinated in vitro by a flow cytometry and confirmed by chromosome analysis. One triploid was produced from 'Harehime', one tetraploid, 'Amakusa', and one tetrapoid, 'Benibae'. There were little differences in leaf shape, thickness, petiole length, and internode length between diploids and polyploids such as tri- or tetraploid. However, polyploids had larger stomata and lower density of stomata in abaxial epidermis than diploids. SPAS indicating chlorophyll content and photosynthetic rate were significantly affected by ploidy level. The results indicated that spontaneous polyploids might be produced by open pollination in some mandarin hybrids and monoembryony had higher frequency in polyploid occurrence than polyembryony.

Study for Metabolism of Resistant Production in Anticancer drug Resistant Stomach Cancer Cell SNU-1 (항암제 내성 위암 세포주 SNU-1의 내성생성기전에 관한 연구)

  • Kim, Jung-Hye;Kang, Mi-Wha;Kim, Jae-Ryong
    • Journal of Yeungnam Medical Science
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    • v.6 no.2
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    • pp.195-205
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    • 1989
  • Development of drug resistance in tumors during treatment is a major factor limiting the clinical use of anticancer agents. When tumor cells acquire resistance to anticancer drug, they show cross-resistance to other antitumor agents. In the present study, SNU-1 cell was induced adriamycin $10^{-7}M$ drug resistance, SNU-1/ADR, in vitro culture system. We got the doubling time and number for viability test during 96 hours by MTT assay. To investigate the cross resistance of various anticancer drugs in human stomach cancer cell SNU-1 and SNU-1/ADR. We compared $IC_{50}$ (drug concentration of 50% reduction) and the relative resistance(RR). SNU-1/ADR was expressed multidrug resistant with vinblastine(RR ; 31.62), vincristine(RR ; 29.50), dactinomycin(RR ; 21.37), epirubicin(RR ; 17.78), daunorubicin(RR ; 14.12), adriamycin(RR ; 7.76), and etoposide(RR ; 4.46), and other drugs, 5-fluorouracil, cisplatin, cyclophosphamide, methotrexate, and aclarubicin, have not cross resistant with adriamycin. There was double minute chromosome in SNU-1/ADR by karyotyping although this change was not seen in SNU-1.

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Evaluation of Chromosomal Alteration in Electrical Workers Occupationally Exposed to Low Frequency of Electro Magnetic Field (EMFs) in Coimbatore Population, India

  • Balamuralikrishnan, Balasubramanian;Balachandar, Vellingiri;Kumar, Shanmugam Suresh;Stalin, Nattan;Varsha, Prakash;Devi, Subramaniam Mohana;Arun, Meyyazhagan;Manikantan, Pappuswamy;Venkatesan, Chinnakulandhai;Sasikala, Keshavarao;Dharwadkar, Shahnaz N.
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.6
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    • pp.2961-2966
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    • 2012
  • Extremely low frequency electro magnetic fields (EMFs) have been classified as possibly carcinogenic to humans by the International Agency for Research on Cancer. An increased number of chromosomal alterations in peripheral lymphocytes are correlated with elevated incidence of cancer. The aim of the present study was to assess occupationally induced chromosomal damage in EMF workers exposed to low levels of radiation. We used conventional metaphase chromosome aberration (CA) analysis and the micronucleus (MN) assay as biological indicators of non ionizing radiation exposure. In the present study totally 70 subjects were selected including 50 exposed and 20 controls. Informed written consent was obtained from all participants and the study was performed in accordance with the Declaration of Helsinki and the approval of the local ethical committee. A higher degree of CA and MN was observed in exposed subjects compared to controls, the frequency of CA being significantly enhanced with long years of exposure (P<0.05). Moreover increase in CA and MN with age was noted in both exposed subjects and controls, but was significantly greater in the former. The results of this study demonstrated that a significant induction of cytogenetic damage in peripheral lymphocytes of workers occupationally exposed to EMFs in electric transformer and distribution stations. In conclusion, our findings suggest that EMFs possess genotoxic capability, as measured by CA and MN assays; CA analysis appeared more sensitive than other cytogenetic end-points. It can be concluded that chronic occupational exposure to EMFs may lead to an increased risk of genetic damage among electrical workers.