• Title/Summary/Keyword: chromosome banding

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TRANSMISSION OF C-BAND VARIANTS IN JAPANESE QUAIL

  • Sohn, S.H.;Fechheimer, N.S.;Nestor, K.E.
    • Asian-Australasian Journal of Animal Sciences
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    • v.8 no.2
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    • pp.171-174
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    • 1995
  • Heteromorphisms of chromosome banding patterns can be useful markers for gene mapping and other kinds of genetic studies. In Japanese quail, the centromere region of chromosome No. 4 is the site of a heteromorphism. One form of the C-band at this region is relatively small ("a" form); an alternative form is much larger ("b" form). To identify the transmission patterns, all possible matings were made between birds with karyotype a/a, a/b, and b/b. The outcome from all crosses are entirely consistent with the expectation from simple Mendelian transmission. No evidence was found for segregation distortion or gametic selection. This dimorphism, therefore, is a reliable marker.

A Cytogenetic Analysis of Inversion as a Type of Structural Chromosome Aberration in Prenatal Diagnosis

  • Hwang, Si-Mok;Kwon, Kyoung-Hun;Jo, Yoon-Kyung;Yoon, Kyung-Ah
    • Biomedical Science Letters
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    • v.15 no.4
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    • pp.363-368
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    • 2009
  • One of the frequent occurrences in rearrangements is chromosome inversion. Pericentric inversion is considered to be the variant of normal karyotype. We investigated the karyotypes of 1195 cases being referred to prenatal diagnosis using standard GTG banding for karyotype preparation. The chromosomal analysis revealed a total of 15 (1.26%) inversions. The characteristics of inversion type [(inv(4), inv(8), inv(9), inv(11)) were investigated on the basis of chromosomal analyses of fetuses and their parents. The results from chromosomal examination of the parents, whose fetuses were diagnosed as inversion, show that either parent might be the carrier. Inversion in human chromosome is commonly seen in normal humans and the frequency estimated to be 1 to 2% in general population and the exact amount of this phenomenon is still unclear. These results indicate that inv(8), inv(9), and inv(11) are phenotypically normal. However these may often cause clinical problems in offspring of the carrier, such as fetal wastage repeated spontaneous abortions and infertility with unknown mechanisms related to sex. We describe an inversion of human chromosome and its clinical correlation with human genetic disease.

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Comparative genomic hybridization analysis of fetal chromosomal aberrations

  • Choi, Soo-Kyung;Kim, Young-Mi;Park, So-Yeon;Kim, Jin-Woo;Ryu, Hyun-Mee;Go, Chang-Won;Park, Chong-Tak;Jun, Jung-Young;Park, In-Suh
    • Journal of Genetic Medicine
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    • v.2 no.2
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    • pp.71-77
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    • 1998
  • Comparative genomic hybridization (CGH) can now be applied to detect the origin of extra or missing chromosomal material in cases with common unbalanced aberrations and in prenatal investigations. This method has been used in 13 cases of fetal samples for this study; 3 for amniocytes, 2 for cord blood and 8 for abortus tissues. These samples were previously subjected to GTG-banding. Our study showed aneuploidy in 8 cases, and partial monosomy, partial trisomy or marker chromosome in the remaining 5. The CGH disclosed further small genetic imbalances in 4 of all 13 cases: a prenatal sample showing del(20)(q13) by GTG confirmed a loss of the segment 20p13-pter by CGH; a marker chromosome manifested normal CGH profile; chromosome der(?)(?;15) found in an abortus sample by GTG turned out to be a loss of 15pter-q14 (partial monosomy) and a gain of 10pter-q22 (partial trisomy); the der(15) shown by GTG represented partial trisomy of 3q24-qter. These findings show that CGH is very useful and efficient for cytogenetic investigations of clinical cases.

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Partial Mitotic Synchronization and Giemsa G-banding in Allium wakegi

  • Bong Bo Seo
    • Journal of Plant Biology
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    • v.38 no.1
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    • pp.33-38
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    • 1995
  • Hydroxyurea (HU), a DNA synthesis inhibitor, was tested as synchronizing agent in root-tip meristem of Allium wakegi. Roots were treated with 2.5mM HU for 14 h to accumulate meristem root-tip cells at the G1/S interface. After release from HU block, the cells re-entered the cell cycle with a high degree of synchrony. Synchronized mitotic frequency of A. wakegi was 22.7%, which was about 3.9 times as high as that of the control. The highest metaphase index(23.0%) was obtained when, 6 h after release from the HU block, the roots were treated with 0.05% colchicine for 2 h. Modifying various Giemsa staining protocols defined for animals and a few plant species, G-bands were visualized at prometaphase and metaphase chromosomes of A. wakegi. The higher degree of chromosome condensation, the less differential bands could be resolved. This is the first demonstration introduced partial mitotic synchronization into G-banding in plant.

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Chromosomal Analysis of Meiosis and Mitosis in New Zealane White Rabbit (New Zealand White 토끼의 생식세포 및 체세포 분열에 의한 염색체 분석)

  • 신선희;김희수;최영현;이원호
    • Journal of Life Science
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    • v.11 no.4
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    • pp.354-361
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    • 2001
  • Chromosomal characteristics of New Zealane White rabbit was studied at meiosis and mitosis. The meiotic chromosomal preparations were mad with the modified air-drying method and karyotype analysis was performed with the G-banding technique, using isolated mitotic metapase chromosomes of the New Zealand White rabbit. Chromosomes, sex vesicles and centromeres could be classified in the zygotene and the pachytene of the meiosis I. The hair-like processes projecting laterally from the axes of bivalent chromosomes at the mid-to-late pachytene were observed and made the appearance of the lampbrush chromosome structure. Chromosomes could be classified onthe basis of the numbers and locations of chiasma in the diakinesis. Twenty-one autosomal bivalents and a single unequal terminally associated X-Y bivalent were observe during the late prophase and the metaphase of the meiosis I. Most of the bivalent types observed in the New Zealand White rabbit spermatrocytes were 1CH, 1TAl, and 2TA bivalents. The mean chiasma frequency(CF) of the male New Zealand White rabbit was 30.2 and it was found that the CF value tended to decrease through diakinesis and the metaphase I. The karyotype of the New Zealand White rabbit was a male chromosome number of 44(2n=44) comprising 8 pairs of metacentric, 9 pairs of submetacentric, 4 pairs o acrocentric autosomes, metacentric X chromosome and acrocentric Y chromosome.

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A Case of a del(8p)/dup(8q) Recombinant Chromosome (8번 염색체 단완 결실과 장완 중복을 동반한 신생아 1례)

  • Kim, Jeong-Young;Im, Hyo-Bin;Son, Sang-Hee;Jeong, So-Young;Sung, Min-Jung;Seo, Son-Sang
    • Neonatal Medicine
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    • v.16 no.1
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    • pp.76-80
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    • 2009
  • A male baby with intrauterine growth retardation had a short neck, small hands and feet, hypospadia, both grade I hydronephrosis, type II atrial septal defect, and moderate valvular pulmonary stenosis. The routine chromosome and banding analyses revealed a 46,XY,rec(8)del(8)(p21)dup(8) (q24.1)inv(8)(p21q24.1)pat chromosome constitution. His mother has normal chromosomes, but the father had 46,XY,inv(8)(p21q24.n Also his uncle had an inv(8) chromosome constitution. We used lymphocytes and examined 40 mitotic cells. All mitotic cells showed deletion of 8p21-->pter and duplication of 8q24.1 -->qter. Because Sp21 involves secretion of macrophage and lymphocyte against cancer cells, long-term follow-up for cancer will be needed.

Identification of Nucleolus Organizer Regions of Korean Cattle Chromosomes by AgNOR Staining (AgNOR 염색법에 의한 한우 염색체의 Nucleolus Organizer Regions 양상 분석)

  • Jung , W.;Sohn, S.H.
    • Journal of Animal Science and Technology
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    • v.45 no.5
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    • pp.695-702
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    • 2003
  • Nucleolus Organizer Regions (NORs) are the specific chromosome sites where ribosomal genes are located and highly expressed. We have applied the AgNOR staining to identify the distribution of NORs in the chromosomes of Korean Cattle. We have also studied the NORs pattern on the cells originated from different breeds, tissues and sex. Peripheral blood from forty-four Korean Cattle and Holstein was cultured for chromosme preparation. The fibroblast culture from biopsied ear skins was also conducted for chromosome analysis. The distribution of NORs was analyzed by sequential Ag staining and G-banding on metaphases of the cells. In Korean Cattle, the NORs are localized on the telomeres of the five chromosome pairs number 2, 3, 4, 11 and 28. The number of NORs per metaphase ranged from 2 to 10 giving a mean value of 5.6. The number of NORs per cell varied among individuals and cells within same individual. The size of NORs also differed in NO-chromosomes. The number of NORs was significantly different between Korean Cattle and Holstein, fibroblasts and lymphocytes, and male and female. However, the distribution and frequency of NORs were similar among the cells regardless of breeds, tissues, and sex.

A Case of Partial Inverted Duplication of Chromosome 7q (염색체 7번 장완의 부분적 역위 중복 1례)

  • Kim, Hyun Ji;Lee, So Young;Kim, Mi Young;Baek, Chung Sun;Kim, Won Duck;Lee, Dong Seok;Kim, Doo Kwun;Choi, Sung Min
    • Clinical and Experimental Pediatrics
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    • v.46 no.5
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    • pp.510-513
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    • 2003
  • Duplication of chromosome 7q has been reported as either partial or complete. Partial 7q duplication was first described by Carpentier in 1972. Pure partial duplication of the long arm of chromosome 7 is extremely rare and only 16 cases with a pure partial duplication of different 7q segment have been described in the literature. Pure partial duplication of the long arm of chromosome 7 is characterized by growth and developmental retardation, muscular hypotonia, distinct craniofacial dysmorphic features, a short neck and skeletal abnormalities. A 3 month-old male was referred to our department of Pediatrics because of dyspnea, hypotonia and delayed development. He shows growth and developmental delay, hypertelorism, a depressed nasal bridge, low set ears, a short neck and muscular hypotonia. Karyotype revealed 46, XY, dup(7)(q36q33) by GTC-banding. We report a case of a partial inverted duplication of chromosome 7q.

Web-based chromosome Karyotyping Instruction System (웹기반의 핵형분류 교육시스템)

  • Koo Bong-Oh;Shin Yong-Won
    • The Journal of the Korea Contents Association
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    • v.5 no.3
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    • pp.29-35
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    • 2005
  • The task for chromosome analysis and diagnosis by experienced cytogenetists are being concerned as repetitive, time consuming job and expensive. For that reason, intelligent agent based on chromosome knowledge base using web has been developed to be able to analyze chromosomes and obtain necessary advises from the knowledge base instead of human experts. That is to say, the knowledge base of IF THEN production rule was implemented to a knowledge domain with normal and abnormal chromosomes, and then the inference results by the knowledge base could enter the inference data into the database. Experimental data were composed of normal chromosomes of 2,736 cases and abnormal chromosomes of 259 cases that have been obtained from GTG-banding metaphase peripheral blood and amniotic fluid samples. The completed intelligent agent for the chromosome knowledge base provides variously morphological information by analysis of normal or abnormal chromosomes also has the advantage of being able to consult with the user on the chromosome analysis and diagnosis.

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The Karyotype of Payamphistomum cervi(Zeder, 1790) from Korean Cattle (한국산 사슴쌍구흡충의 핵형분석)

  • Lee, Jae-Gu;Kim, Yong-Hwan;Park, Bae-Geun
    • Parasites, Hosts and Diseases
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    • v.25 no.2
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    • pp.154-158
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    • 1987
  • As a series of systematic classification of paramphistomes, the worms in the rumen and reticulum were collected on 214 Korean cattle slaughtered at Jeonju abattoir from January, 1986 to April, 1987 and were classified by means of morphology. Afterwards, the karyotype of Paramphistomum cervi(Zeder, 1790) was detected by means of modified air.drying method from germ cells of the worms. The results were summarized as follows: 1. In the chromosome number of 254 p. cervi, the haploid cell was n:9 and the diploid 2n=18. The meiotic divisions were observed frequently; 1,924 haploid and 32 diploid cells were reliable. Nine pairs of mitotic chromosomes were homologous in the metaphase stage, and the chromosomes were composed of five medium-sized metacentrics (m) , subtelocentrics(st) or submetacentrics(sm) and four small-siRed subtelocentrics(st) or submetacentrics(sm). Meiotic metaphase was composed of five medium and four small chromosomes in size. 2. As a series of C-banding method, C-band was showed in centromeric region from all of the haploid germ cells. Whereas chromosome No. 3 and 5 included heterochromatin on the tip region, chromosome No. 4 on the distal region and No. 6 proximal region. And chromosomes No. 2 and 8 showed a remarkable C-band distinguished from other chromosomes.

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