• Journal of Genetic Medicine
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• v.14 no.2
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• pp.62-66
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• 2017

Interchromosomal insertion of Y chromosome heterochromatin in an autosome was identified in a fetus and a family. A fetal karyotype was analyzed as 46,XX,dup(7)(?q22q21.1) in a referred amniocentesis at 16 weeks of gestation for advanced maternal age. In the familial karyotype analyses for identification of der(7), the mother, the first daughter and the maternal grandmother showed the same der(7) as the fetus's. CBG-banding was positive at 7q22 region of der(7) that indicated inserted material was originated from heterochromatin. The origin of heterochromatic insertion region in der(7) of the fetus and the mother was found in Yq12 region by fluorescent in situ hybridization with a DYZ1 probe. In the specific analysis of Y chromosomal heterochromatic region of ins(7;Y) of the mother, 15 sequence tagged sites from Yp11.3 region including SRY to Yq11.223 region was not detected. Final karyotypes of the mother, the first daughter and the maternal grandmother were reported as 46,XX,der(7)ins(7;Y)(q21.3;q12q12). All female carriers of ins(7;Y) in the family showed normal phenotype and the mother and the maternal grandmother were fertile. A healthy girl was born at term. We report a rare case of familial interchromosomal insertion of Y chromosome heterochromatin detected only in female family members with normal phenotype that was diagnosed prenatally.

• Asian-Australasian Journal of Animal Sciences
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• v.15 no.11
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• pp.1531-1535
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• 2002

It has been known that the sex of chicken cells can be most accurately identified by fluorescence in situ hybridization (FISH). However, the presently available FISH has not been widely used for sex identification, because the procedures for cell preparation and FISH itself are complicated and time-consuming. The present study was undertaken to test a rapid FISH procedure for sexing chicken. A FISH probe was simultaneously synthesized and labeled with digoxigenin by polymerase chain reaction (PCR) targeting a 416 bp segment of the 717 bp XhoI family fragment which is repeated over 10 thousand times exclusively in the W chromosome. Sexing by FISH was performed on cytological preparations of early embryos, adult lymphocytes and feather pulps of newly hatched chicks. The DNA probe hybridized to all types of uncultured interphase as well as metaphase female but not male cells that had been examined. Moreover, consistent with the known site of the XhoI family, the hybridization signal was localized to the pericentromeric region of the W chromosome. We, therefore, conclude that the present PCR-based FISH can be used as a rapid and reliable sex identification procedure for chicken.

• Asian-Australasian Journal of Animal Sciences
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• v.15 no.7
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• pp.932-937
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• 2002

A partial genome scan using porcine microsatellites was carried out to detect quantitative trait loci (QTL) for backfat thickness (BFT) in a pig reference population. This population carried QTL on chromosomes 1, 13 and 18. The QTL on chromosome 1 was located between marker loci S0113 and SW1301. The QTL corresponded to very low density lipoprotein receptor gene (VLDLR) in location and in biological effects, suggesting that VLDLR might be a candidate gene. The QTL found on chromosome 13 was found between marker loci SWR1941 and SW864, but significance for the marker-trait association was inconsistent by using data with different generations. The QTL on chromosome 18 was discovered between markers S0062 and S0117, and it was in proximity of the regions where IGFBP3 and GHRHR were located. The porcine obese gene might be also a candidate gene for the QTL on chromosome 18. In order to understand genetic architecture of BFT better, fine mapping and positional comparative candidate gene analyses are necessary.

• The Journal of Korean Medicine
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• v.42 no.4
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• pp.25-39
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• 2021

Objectives: Ssanghwa-tang (SHT) is a traditional herbal formula comprising nine medicinal herbs, and it is used for reducing fatigue in Korea. SHT exerts various effects such as anti-inflammatory, antioxidant, and anti-aging activities, and protection against acute hepatotoxicity. However, the genotoxicity of SHT has not yet been established. Methods: Ten components were identified in SHT water extract by using high-performance liquid chromatography analysis. We assessed the genotoxicity of SHT by using bacterial reverse mutation (Ames test), chromosome aberration, and in vivo micronucleus tests. Results: The contents of paeoniflorin, glycyrrhizin, and liquiritin apioside in SHT were 15.57, 6.94, and 3.48 mg/g extract, respectively. SHT did not increase the revertant colonies of Salmonella typhimurium and Escherichia coli strains in the presence or absence of metabolic activity. Although SHT did not induce structurally abnormal chromosomes in Chinese hamster lung (CHL) cells in the presence of metabolic activity, the number of structurally aberrated chromosomes increased dose-dependently in the absence of metabolic activity. In the in vivo micronucleus test, SHT did not affect the formation of micronuclei compared with the vehicle control. Conclusions: Genotoxicity of SHT was not observed in the Ames test and in vivo micronucleus test. However, based on the results of chromosome aberration test, it can be presumed that SHT has the potential to induce genotoxicity because it induced structurally abnormal chromosomes in the absence of metabolic activity.

• Korean Journal of Clinical Laboratory Science
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• v.42 no.2
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• pp.97-102
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• 2010

The two new female cases of Angelman syndrome (AS) were described, which diagnosed on the basis of clinical features (dysmorphic facial features, severe mental retardation with absent speech, peculiar jerky movements, ataxic gait and paroxysms of inappropriate laughter) and neurophysiological findings. Failure to detect the deletion of the long arm of chromosome 15 or the absence of epileptic seizure were not considered sufficient to exclude a diagnosis of AS. Feeding problems, developmental delay and early signs of ataxia, especially tremor on handling objects and unstable posture when seated, proved effective as the clinical markers for early diagnosis of AS. Most of the authors agreed about the existence of three main EEG patterns in AS which may appear in isolation or in various combinations in the same patient. The most frequently observed pattern in children has prolonged runs of high amplitude rhythmic 2-3 Hz activity predominantly over the frontal region with superimposed interictal epileptiform discharges. High amplitude rhythmic 4-6 Hz activity, prominent in the occipital regions, with spikes, which can be facilitated by eye closure, is often seen in children under the age of 12 years. The EEG findings are characteristic of AS when seen in the appropriate clinical context and can be helpful to identify AS patients at an early age when genetic counselling may be particularly important.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.7 no.2
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• pp.115-118
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• 2011

Angelman syndrome(AS) is a rare genetic neurological disorder. The main clinical characteristics of this syndrome are delayed neuropsychological development, intellectual disability, speech impairment, jerky movements especially hand-lapping, frequent laughter or smiling. AS is a classic example of genetic imprinting in that it is usually caused by deletion or inactivation of genes on the maternally inherited chromosome 15. The syndrome has oral manifestations such as diastemas, tongue thrusting, sucking/swallowing disorder, mandibular prognathism, frequent drooling, and excessive chewing behavior. The purpose of this paper is to describe the interesting aspects of the dental treatment of a childe with AS.

• Journal of Plant Biology
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• v.29 no.2
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• pp.77-84
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• 1986

The frequencies and geographical distribution of B chromosomes on 15 strains of rye (Secale cereale L.) collected from various localities in Korea were investigated. All of the 15 strains of rye investigated were found to have B chromosomes, and the frequencies of B chromosomes ranged from 6% to 51% with 20.1% average. Plants with 2Bs seem to be the most stable in populations with B chromosomes. Of 1400 plants examined, one plant was observed to have a deficient-B chromosome in Buyo rye.

• Toxicological Research
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• v.11 no.1
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• pp.51-55
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• 1995

The present experiment was carried out to investigate whether X and Y chromosome dissociation in the primary spermatocytes of mice can be used as an in vivo assaying system that detect environmental mutagens. For this purpose, alkylating agents (EMS, MMS and MMC), which are strong mutagens, were administered to ICR male mice 12-15 weeks old. The mean frequencies of previously dissociated X-Y chromosomes and autosomes of the control group were 7.34-7.45% and 0.92-1.04%, respectively. The frequencies of X-Y dissociation in the mutagen-treated groups with 10.0 mM EMS and 5.0 mM MMS were about 3.3-4.6 times higher than that in the control group, but there were no significant differences in dissociation of autosomes in both the control and the mutagen-treated groups. These results suggest that X-Y dissociation in the primary spermatocytes of mice can be used as an in vivo short-term assaying system for environmental mutagens.

• Journal of the Korean Operations Research and Management Science Society
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• v.23 no.2
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• pp.15-27
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• 1998

In the parallel processing systems, a compiler partitions a loaded program into tasks, allocates the tasks on multiple processors and schedules the tasks on each allocated processor. In this paper we suggest a Genetic Algorithm(GA) based scheduling method to find an optimal allocation and sequence of tasks on each Processor. The suggested method uses a chromosome which consists of task sequence and binary string that represent the number and order of tasks on each processor respectively. Two correction algorithms are used to maintain precedency constraints of the tasks in the chromosome. This scheduling method determines the optimal number of processors within limited numbers, and then finds the optimal schedule for each processor. A result from computational experiment of the suggested method is given.

• Environmental Mutagens and Carcinogens
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• v.15 no.2
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• pp.81-87
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• 1995

The clastogenic activity of capsaicin, a major pungent and irritating constituent of hot chili pepper, was evaluated in cultured human lymphocytes. Capsaicin (125, 250, and 500 $\mu$M) caused cytogenetic damage as determined by increased frequency of chromosome/chromatid aberrations compared to the solvent control. The mitotic indices were also decreased in a concentration-related manner in capsaicin-treated cells. Moreover, capsaicin suppressed [$^3$]thymidine incorporation into lymphocytes. The clastogenicity and cytotoxicity of capsaicin towards human lymphocytes were evident without an external metabolic activation system. Taken together, these findings suggest that capsaicin is a genotoxic agent and may thus represent a potential health hazard in humans.