• Title/Summary/Keyword: Chromosome Length

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A case of de novo duplication of 15q24-q26.3

  • Kim, Eun-Young;Kim, Yu-Kyong;Kim, Mi-Kyoung;Jung, Ji-Mi;Jeon, Ga-Won;Kim, Hye-Ran;Sin, Jong-Beom
    • Clinical and Experimental Pediatrics
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    • v.54 no.6
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    • pp.267-271
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    • 2011
  • Distal duplication, or trisomy 15q, is an extremely rare chromosomal disorder characterized by prenatal and postnatal overgrowth, mental retardation, and craniofacial malformations. Additional abnormalities typically include an unusually short neck, malformations of the fingers and toes, scoliosis and skeletal malformations, genital abnormalities, particularly in affected males, and, in some cases, cardiac defects. The range and severity of symptoms and physical findings may vary from case to case, depending upon the length and location of the duplicated portion of chromosome 15q. Most reported cases of duplication of the long arm of chromosome 15 frequently have more than one segmental imbalance resulting from unbalanced translocations involving chromosome 15 and deletions in another chromosome, as well as other structural chromosomal abnormalities. We report a female newborn with a de novo duplication, 15q24- q26.3, showing intrauterine overgrowth, a narrow asymmetric face with down-slanting palpebral fissures, a large, prominent nose, and micrognathia, arachnodactyly, camptodactyly, congenital heart disease, hydronephrosis, and hydroureter. Chromosomal analysis showed a 46,XX,inv(9)(p12q13),dup(15)(q24q26.3). Array comparative genomic hybridization analysis revealed a gain of 42 clones on 15q24-q26.3. This case represents the only reported patient with a de novo 15q24-q26.3 duplication that did not result from an unbalanced translocation and did not have a concomitant monosomic component in Korea.

Karyotype Analysis and Physical Mapping of rDNAs in Diploid Nicotiana plumbaginifolia (2배체 담배 Nicotiana plumbaginifolia의 핵형 분석과 rDNAs의 Physical Mapping)

  • Cho, Hye-Gyoung;Koo, Dal-Hoe;Kim, Soo-Young;Bang, Jae-Wook
    • Journal of Plant Biotechnology
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    • v.30 no.1
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    • pp.7-11
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    • 2003
  • Karyotype analysis and chromosomal localization of 5S and 45S rDNAs using FISH (fluorescence in situ hybridization) technique were carried out in Nicotiana plumbaginifolia. Somatic chromosome number of N. plumbaginifolia was 2n=20 and kyarotype was composed of three pairs of metacentric chromosomes (1,2 and 7) and seven pairs of submetacentric chromosomes (3, 4, 5, 6, 8, 9 and 10). Length of chromosomes was ranged from 2.29 to 4.50 ${\mu}{\textrm}{m}$. Chromosome 1 and 2 were identified as satellite chromosomes. In FISH experiment, one pair of 5S rDNA signals was detected on the centromeric region of chromosome 2 and one pair of 45S rDNA signals was detected on the terminal region of chromosome 1.

Chromosome Redundancy and Tree Phenotype Variation in Autotetraploid Trifoliate Orange (동질 사배체 탱자에서 염색체 배가와 수체 표현형의 변이)

  • Oh, Eun Ui;Chae, Chi-Won;Kim, Sat-Byul;Lu, Jian Liang;Yun, Su-Hyun;Koh, Sang-Wook;Song, Kwan Jeong
    • Horticultural Science & Technology
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    • v.32 no.3
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    • pp.366-374
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    • 2014
  • The study was conducted to investigate the possibility that epigenetic DNA methylation causes tree phenotypic variation in autotetraploids through evaluating the phenotypic variation and DNA methylation in autotetraploids occurred spontaneously from diploid trifoliate orange. Chromosome analysis confirmed that fourteen trifoliate orange trees of selected by flow cytometry were tetraploids (2n = 4X = 36) without any aneuploids. Chromomycin A3 staining determined that these trees were all autotetraploid with doubled chromosome set. Tree phenotypes, such as tree height and width, branching number, length, and angle, internode length, and leaf characteristics, varied in the autotetraploids. Chlorophyll indices were diverse in the autotetraploids, but photosynthetic rates were not significantly different. In addition, a wide range of variation was observed in stomatal density and guard cell length. Analysis of global cytosine DNA methylation showed that there was a variation of the methylation level in autotetraploids. More than half of 14 autotetraploids had at least 2 times higher methylation level than diploid trifoliate orange. The results indicate that tree phenotypic variation in autotetraploids might be related to global DNA methylation for reducing gene redundancy.

Effect of Zebularine Soaking on the Early Growth Stage and Mitotic Chromosomes of Barley (Hordeum vulgare L.) (제부라린의 침종처리가 보리 생육초기 생장 및 체세포 염색체에 미치는 영향)

  • Han, Ji-Yoon;Kang, Seong-Wook;Chun, JaeBuhm;Kim, Yang-Kil;Yoon, Young-Mi;Cho, Seong-Woo
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.65 no.4
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    • pp.399-405
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    • 2020
  • The objective of this study was to identify the effect of zebularine soaking on the early growth stage of barley (Hordeum vulgare L.). Hence, root elongation was measured daily according to the different concentrations of zebularine (1.0, 2.5, 5.0, and 10.0 μM) for 4 days. On the first day, root length at 2.5 and 5.0 μM was significantly longer than that in the non-treated control. On the second day, root length was not significantly different among all concentrations and controls. On the third day, root elongation was suppressed by the effect of zebularine, except at 2.5 μM. The treatment time of zebularine accounted for the largest proportion of the variation in root elongation. After transplanting, plant growth velocity was similar to that of the control; however, plants at 2.5 μM showed faster growth velocity than that of the other concentrations and the control. In the metaphase of mitosis, most chromosomes of cells under zebularine treatment were ordinary regardless of the concentration, while some cells with short chromosomes were investigated at around 2%. The short chromosome showed a centromere. In addition, it showed short and long arms based on the centromere. The lengths of the short and long arms were different for each short chromosome. It is necessary to study the effect of the short chromosome as a chromosomal function on plant growth and phenotype through investigation of meiosis and fertilization at the chromosome level.

A case of mosaic ring chromosome 13 syndrome (13번 환염색체의 모자이크 증후군)

  • Kim, Soo Young;Oh, Soo Min;Kim, Mi Jeong;Song, Eun Song;Kim, Young Ok;Choi, Young Youn;Woo, Young Jong;Hwang, Tai Ju
    • Clinical and Experimental Pediatrics
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    • v.52 no.2
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    • pp.242-246
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    • 2009
  • The clinical features of ring chromosome 13 include mental and growth retardation, CNS anomalies, facial dysmorphism, cardiac defects, genital malformations, limb anomalies, skeletal deformities and anal malformations. Although many cases of ring chromosome 13 have been reported worldwide, only 6 cases have been reported in Korea, and the latter cases were not mosaic but pure ring chromosome 13. Here we report a case with mosaic ring chromosome 13. The baby boy was born at 37 weeks of gestation by induced vaginal delivery due to intrauterine growth restriction (IUGR). He was the second baby of a 28-year-old hepatitis B carrier mother and a 32-year-old father. There was no family history of chromosomal anomalies. The baby was a symmetric IUGR with a birth weight of 1,860 g, length of 44.8 cm, and head circumference of 29.4 cm. The physical examination revealed microcephaly, trigonocephaly, flat occiput, large ears, short neck and dysmorphic facial features, including microophthalmia, hypertelorism, antimongoloid slanting palpebral fissures, a flat nasal bridge, and micrognathia. The karyotype of this patient performed by peripheral blood lymphocytes was 46,XY,r(13)(p13q34)/45,XY,-13/46,XY,dic r(13;13)(p13q34;p13q34). The baby showed failure to thrive, hypotonia, and developmental delay. We report the first case of mosaic ring chromosome 13 in a male baby in Korea and compare this case with other Korean cases of non-mosaic ring chromosome 13.

Karyotype Analysis and Physical Mapping of rDNAs in Bupleurum longeradiatum (개시호 (Bupleurum longeradiatum)의 핵형분석과 rDNAs의 Physical Mapping)

  • Koo, Dal-Hoe;Seong, Nak-Sul;Seong, Jong-Suk;Bang, Kyong-Hwan;Bang, Jae-Wook
    • Korean Journal of Medicinal Crop Science
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    • v.11 no.5
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    • pp.402-407
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    • 2003
  • Karyotype analysis and chromosomal localization of 5S and 45S rDNAs using multi-color fluorescence in situ hybridization (McFISH) technique were carried out in Bupleurum longeradiatum. Somatic metaphase chromosome number was 2n=12. Karyotype was composed of three pairs of metacentrics (No.3, 4 and 6) and three pairs of submetacentrics (No. 1, 2 and 5). The length of somatic prometaphase chromosomes ranges from 2.55 to $5.05{\mu}m$ with total length of $18.15\;{\mu}m$. In FISH experiment, one pair of 5S rDNA signals was detected on the pericentromeric region of chromosome 4 and one pair of 45S rDNA signals was detected on the telomeric region of chromosome 2.

The Optimization of Human Sperm Decondensation Procedure for Fluorescence in Situ Hybridization (Fluorescence in Situ Hybridization 시행을 위한 인간정자 탈응축법의 적정화)

  • Pang, Myung-Geol
    • Clinical and Experimental Reproductive Medicine
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    • v.24 no.3
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    • pp.369-375
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    • 1997
  • Studies were conducted to determine the efficiency of decondensation protocols. Sperm obtained from seven normal donors was immediately washed after liquefaction and then decondensed using the method of West et al. (1989) and my original protocol. My optimized protocol entailed mixing 1 ml aliquots of semen with 4 ml phosphate buffered saline (PBS). Following centrifugation, pellets were resuspended in 1 ml PBS containing 6 mM EDTA. After centrifugation, pellets were resuspended in 1 ml PBS containing 2 mM dithiothreitol at $37^{\circ}C$ for 45 min. Following mixing with 2 ml PBS and centrifugation, pellets were resuspended by vortexing. While vortexing, 5 ml of fixative were gently added. Slide preparation was accomplished using the smear method and it was stored at $4^{\circ}C$. When comparing these protocols, the degree of sperm decondensation and head swelling was monitored by measuring nuclear length, area, perimeter, and degree of roundness using FISH analysis software. Apparent copy number for chromosome 1 and, separately, for the sex chromosomes was determined by FISH using satellite DNA probes for loci DIZ1, DXZ1 and DYZ3. Sperm treated by my decondensation protocol showed significant increases (p<0.05) in length, area, perimeter, and degree of roundness. There was a significant decrease (p<0.05) in the frequency of nuclei displaying no signal but no change in the frequency of nuclei with two signals in samples decondensed by my protocol. My data suggested that decondensation using my original protocol may lower the frequency of cells with spurious "nullisomy" due to hybridization failure without inducing spurious "disomy" resulting from increased distances between split signals.

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Embedded One Chip Computer Design for Hardware Implementation of Genetic Algorithm (유전자 알고리즘 하드웨어 구현을 위한 전용 원칩 컴퓨터의 설계)

  • 박세현;이언학
    • Journal of Korea Multimedia Society
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    • v.4 no.1
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    • pp.82-90
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    • 2001
  • Genetic Algorithm(GA) has known as a method of solving NP problem in various applications. Since a major drawback of the GA is that it needs a long computation time, the hardware implementation of Genetic Algorithm is focused on in recent studies. This paper proposes a new type of embedded one chip computer fort Hardware Implementation of Genetic Algorithm. The proposed embedded one chip computer consists of 16 Bit CPU care and hardware of genetic algorithm. In contrast to conventional hardware oriented GA which is dependent on main computer in the process of GA, the proposed embedded one chip computer is independent on main computer. Conventional hardware GA uses the fixed length of chromosome but the proposed embedded one chip computer uses the variable length of chromosome by employing the efficient 16 bit Pipeline Unit. Experimental results show that the proposed one chip computer is applicable to the design of evolvable hardware for Random NRZ bit synchronization circuit.

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Studies on the Chromosomal Banding Analysis of Korean Native Fowl (한국재래계의 염색체 분양분석에 관한 연구)

  • 오희정;오봉국
    • Korean Journal of Poultry Science
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    • v.16 no.4
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    • pp.201-207
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    • 1989
  • This study was carried out to identify the chromosome morphological structure and G-, C-banding pattern of Korean native fowl. The samples used in this study were early chick embryos, and the method of chromosomal analysis quoted from the protocal of Ohio univ. with more or less modified. The results were summerized as follow as; 1. In each of macrochromosomal morphology, the arm-ratio, centromeric index, and relative length of Korean native fowl were more or less different from improved breeds, but the designations were the same. 2. The graphical pecks, by densitometric recordings, in each macrochromosome number of 1, 2, 3, 4, Z, and 5, numbered 21, 14, 12, 8, 11, and 4 in G-banded, and 16, 13, 9, 9, 9, and 4 in C-banded, respectively. Those pecks could be explained as a consequence of chromosome condensation during mitosis and of genetic material differences.

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C-banding Pattern of Mitotic Chromosome in Korean Indigenous Maize (한국 재래종 옥수수 체세포 염색체의 C-분염패턴)

  • Lee, In-Sup;Choe, Bong-Ho;Gustafson, J. P.
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.41 no.4
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    • pp.429-433
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    • 1996
  • A Giemsa C-banding method was used for the identification of somatic chromosomes of Korean indigenous maize(Zea mays L.). Two Korean indigenous maize stocks and an American hybrid maize for comparison were examined. Ten deeply stained heterochromatic knobs whose position and size were different between the genotypes, two satellites and interstitial bands were observed. The length of homologous chromosomes compared by the relative lengths of chromosomes presented as a percentage of the length of chromosome 10 were different between the genotypes. The Giemsa method proved to be useful for the identification of somatic chromosomes and for the characterization of different stocks of Korean indigenous maize.

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