• Journal of Genetic Medicine
• /
• v.14 no.1
• /
• pp.43-47
• /
• 2017

Cat eye syndrome (CES) is a very rare chromosomal syndrome characterized by various malformations such as anal atresia, preauricular malformation, coloboma of the iris, and congenial heart and renal defects. This genetic disorder is caused by partial duplication of chromosome 22, mostly as a result of a supernumerary isodicentric marker chromosome idic(22)(q11.2). Various congenital abnormalities and extreme phenotypic variability in CES patients have been reported, which have made prenatal diagnosis of CES difficult. We report the first case diagnosed with CES prenatally by multiplex ligation-dependent probe amplification in a woman who was referred to our hospital, for a fetus presenting with heart anomaly.

• Archives of Pharmacal Research
• /
• v.21 no.6
• /
• pp.683-687
• /
• 1998

We have examined in vitro and in vivo radioprotective effects of a well-known thiol-containing compound, dithiothreitol (DTT). The treatment of both 0.5 and 1mM of DTT significantly increased clonogenic survival of ${\gamma}$-ray irradiated Chinese hamster (V79-4) cells. In order to investigate the possible radioprotective mechanism of DTT, we measured gamma-ray induced chromosome aberration by micronucleus assay. In the presence of 0.5mM or 1mM DTT, the frequencies of micronuclei were greatly reduced in all dose range examined (1.5-8 GY). Slightly higher reduction in micronucleus formation was observed in 1mM DTT-treated cells than in 0.5mM DTT-treated cells. In addition, incubation with both 0.5 and 1mM of DTT prior to gamma-ray irradiation reduced nucleosomal DNA fragmentation at about same extent, this result suggests that treatment of DTT at concentrations of 0.5 and 1mM reduced radiation-induced apoptosis. In vivo experiments, we also observed that DTT treatment reduced the incidence of apoptotic cells in mouse small intestine crypts. In irradiated control group 4.4${\pm}$0.5 apoptotic cells per crypt were observed. In DTT-administered and irradiated mice, only 2.1${\pm}$0.4 apoptotic cells per crypt was observed. In vitro and in vivo data obtained in this study showed that DTT reduced radiation-induced damages and it seems that the possible radioprotective mechanisms of action of DTT are prevention of chromosome aberration.

• Journal of Korean Society of Forest Science
• /
• v.80 no.4
• /
• pp.383-392
• /
• 1991

The genetic variation of Pinus densiflora and Pinus thunbergii by Giemsa C-banding was investigated and the results were as follows : 1. From Karyotype analysis of P. densiflora and P. thunbergii by Giemsa C-banding, somatic chromosome numbers of both species were 2n=24. 2. Chromosome of P. densiflora was M-type in arm ratio and they were no variation among individuals but variation in number and position of the secondary constriction and telomere banding among individuals. 3. P. thunbergii showed also M-type in arm ratio of chromosome, however, there was no variation in both number and position of the secondary constriction among individuals. 4. From chromosome C-banding, bands were appeared in the position of centromere and the secondary constriction in both P. densiflora and P. thunbergii. 5. In P. densiflora, the bands were shown on the secondary-constriction in chromosome No. 3, 4 and 7 of all individuals and the bands of the secondary constriction in chromosome No. 1, 2 and 5 showed variation among individuals. In chromosome No. 9, 10 and 11, the bands were shown in telomere and showed variation among individuals. 6. In P. thunbergii, the bands were shown on the secondary constriction in chromosome No. 2, 3, 7 and 8, and were shown no variation among individuals. There was no band on telomere. 7. The genetic variation by C-banding were shown in P. densiflora among individuals but no in P. thunbergii, and were shown on the secondary constriction in chromosome No. 4 of Pinus densiflora and in clnromosome No. 8 of Pinus thunbergii. These are the difference between the two species by C-banding.

• Korean Journal of Plant Resources
• /
• v.5 no.1
• /
• pp.31-35
• /
• 1992

The somatic chromosome numbers were counted to be 2n = 16 of Codonopsis lanceolata. Chromosomes 2 and 7 of Sokrisan and Koheung II has a hetero satellite on short arm. Chromosome 5 of Bakwoonsan showed homo satllite on short arms. Short arms of chromosomes 1 and 5 has homo satellite and short arms of chromosomes 2 and 7 has hetero satellite of Jilin.

• The Korean Journal of Malacology
• /
• v.23 no.1
• /
• pp.59-63
• /
• 2007

The chromosome numbers and karyotype of Euphaedusa fusaniana, a kind of Korean land snail are investigated here. From E. fusaniana, chromosome numbers of 28 (n) and 56 (2n) were counted. Euphaedusa fusaniana has 15 pairs of metacentric chromosomes and 13 pairs of submetacentric chromosomes. The mean total length of all chromosomes was $128.7\;{\pm}\;9.93\;{\mu}m$. The maximum length of chromosomes No. 1 was $9.6\;{\pm}\;0.21\;{\mu}m$.

• Horticultural Science & Technology
• /
• v.33 no.6
• /
• pp.900-910
• /
• 2015

This study aimed to investigate the efficiency of colchicine and oryzalin in inducing polyploidy in two Cymbidium hybrids [Showgirl 'Silky' and Mystery Island 'Silk Road' (Silk Road-4)]. Colchicine was used at concentrations ranging from 50 to $500mg{\cdot}L^{-1}$, with treatments lasting 1 to 3 weeks. Oryzalin was used at concentrations ranging from 3 to $20mg{\cdot}L^{-1}$, with treatments lasting 3 to 6 days or 1 to 3 weeks. The survival rate of PLBs was better in colchicine than in oryzalin solutions. The ploidy levels were screened using flow cytometry. In C. Showgirl 'Silky', the highest chromosome doubling efficiencies were obtained with the 1-week treatment in $50mg{\cdot}L^{-1}$ colchicine (60%) and the 2-week treatment in $5mg{\cdot}L^{-1}$ oryzalin (46.7%). In C. Mystery Island 'Silk Road' (Silk Road-4), the highest chromosome doubling efficiencies were obtained with the 1-week treatment in $50mg{\cdot}L^{-1}$ colchicine (16.7%) and the 3-day treatment in $10mg{\cdot}L^{-1}$ oryzalin (6.7%). Colchicine was more efficient than oryzalin in terms of polyploidy induction. Furthermore, pre-treatment, which entailed poking 10 times with forceps, improved the efficiency of chromosome doubling.

• Asian Pacific Journal of Cancer Prevention
• /
• v.13 no.1
• /
• pp.329-337
• /
• 2012

Considerable attention has been given to the accuracy of HER-2 testing and the correlation between the results of different testing methods. This interest reflects the growing importance of HER-2 status in the management of patients with breast cancer. In this study the detection of HER-2 gene and centromere 17 status was evaluated using dual-colour primed in situ labelling (PRINS) in comparison with fluorescence in situ hybridization (FISH). These two methods were evaluated on a series of 27 formalin fixed paraffin embedded breast carcinoma tumours, previously tested for protein overexpression by HercepTest (grouped into Hercep 1+/0, 2+ and 3+). HER-2 gene amplification (ratio${\geq}2.2$) by PRINS was found in 3:3, 6:21 and 0:3 in IHC 3+, 2+ and 1+/0 cases, respectively. Comparing FISH and IHC (immunohistochemistry), showed the same results as for PRINS and IHC. Chromosome 17 aneusomy was found in 10 of 21 IHC 2+ cases (47.6%), of which 1 (10%) showed hypodisomy (chromosome 17 copy number per cell${\leq}1.75$), 7 (70%) showed low polysomy (chromosome 17 copy number per cell=2.26 - 3.75) and 2 (20%) showed high polysomy (chromosome 17 copy number per cell ${\geq}3.76$). The overall concordance of detection of HER-2 gene amplification by FISH and PRINS was 100% (27:27). Furthermore, both the level of HER-2 amplification and copy number of CEN17 analysis results correlated well between the two methods. In conclusion, PRINS is a reliable, reproducible technique and in our opinion can be used as an additional test to determine HER-2 status in breast tumours.

• Genomics & Informatics
• /
• v.1 no.2
• /
• pp.101-107
• /
• 2003

Loss of heterozygosity (LOH) has been used to detect deleted regions of a specific chromosome in cancer cells. LOH on chromosome 16q has been reported to occur frequently in progressed hepatocellular carcinoma (HCC). Liver tissues from 37 Korean HCC patients were analyzed for LOH by using 25 polymorphic microsatellite markers distributed along 16q. Out of the 37 HCC patients studied, 21 patients (56.8%) showed LOH in various regions of 16q with at least one polymorphic marker. Puring the analysis of these 21 LOH cases, 6 patients showed interstitial LOHs in which the boundary of the LOH region was defined. With two rounds of LOH analysis, five commonly occurring interstitial LOH regions were identified; 16q21-22.1, 16q22.2 - 22.3, 16q22.3, 16q23.2 and 16q23.3 - 24.1. Among the five LOH regions the 16q23.3 - 24.1 region has been reported to be related with chromosome instability. A complete physical map, which covers the 3.2 Mb region of 16q23.3 - 24.1 (D16S402 and D16S486), was constructed to identify novel candidate tumor suppressor genes. We provide the minimally tiling path map consisting of 28 BAC clones. There was one gap between NT_10422.11 and NT_019609.9 of the human genome sequence contig (NCBI sequence build 33, April 29, 2003). This gap can be filled by sequencing the R-1425M20 clone which bridges these sequence contigs.

• Korean Journal of Plant Taxonomy
• /
• v.40 no.1
• /
• pp.65-70
• /
• 2010

Rubus nishimuranus Koidz. (Rosaceae), a species previously unrecorded for the Korean flora, was collected in the lowlands near a beach on Jeju Island. This species was known to be distributed only in Japan. R. nishimuranus differs from R. trifidus Thunb. ex Murray, by having leaves 3-foliate or sometimes the upper leaflets connate below and from R. hirustus Thunb. by having leaves ternate and the leaflets sessile or nearly so. The somatic chromosome number was 2n = 2x = 14 and the size of chromosomes ranged $1.2-2.5{\mu}m$. The chromosome complement of this species consisted of three pairs of metacentrics (chromosomes 1, 2 and 5), submetacentrics (chromosomes 3, 6 and 7) and a pair of subtelocentrics (chromosome 4).

• Journal of Animal Science and Technology
• /
• v.51 no.5
• /
• pp.361-368
• /
• 2009

This study was carried out to establish the standard karyotype of Jeju horse by G-, C- and AgNOR-banding patterns. Blood samples were collected from 37 Jeju horses and 24 Thoroughbred that had been raised at the National Institute of Subtropical Agriculture in Jeju. The lymphocytes were cultured in vitro and then chromosomes prepared. The diploid chromosome number of Jeju horse is 64, which consists of 31 pairs of autosomes and X, Y sex chromosomes. The Jeju horse has 13 pairs of metacentric/submetacentric and 18 pairs of acrocentric autosomes. The X chromosome is the fifth largest submetacentric, while the Y chromosome is one of the smallest acrocentric chromosomes. The G-banding pattern of Jeju horse chromosomes showed a light band at centromeres in all autosomes, and also exhibited a typical and identical banding pattern in each homologous chromosome. Overall chromosomal morphology and positions of typical landmarks of the Jeju horse were virtually identical to those of International Committee for the Standardization of the Domestic Horse Karyotype. C-bands of Jeju horse chromosomes appeared on centromeres of almost all autosomes, but chromosome 8 showed a heterochromatin heteromorphism. The NORs in Jeju horse chromosomes showed polymorphic patterns within breed, individuals and cells. By the AgNOR staining, the NORs were located at the terminal of p-arm on chromosome 1 and near centromeres on the chromosome 26 and 31. The mean number of NORs per metaphase was 4.68 in Jeju horse.