• 한국패류학회지
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• 제7권1호
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• pp.12-29
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• 1991

The chromosome numbers and the karyotypes of seven species in Unionidae are reported, using air drying in gonad. In seven species, the chromosome number of 38(2n) was counted. The mitotic chormosomes of A. arcaeformis flavotincta, A. woodiana and L. gottschei hd 7 pairs of metacentric and 12 pairs of submetacenrtic chromosomes, U. douglasiae had 6 pairs of metacentrics, 13 pairs of submetacentrics, U. douglasiae sinuolatus had 4 metacentric pairs and 15 submetacentric pairs, L. acrorhyncha had 5 metacentric pairs and 14 submetaacentric pairs, and S. triangularis had 5 mdtacenrtric pairs, 13 submetacentric pairs and 1 pair of subtelocentric chromosomes. The size of chromosomes of A. woodiana was the longest in length and L. gottschei was the shortest. The sexual difference of chromosomes was not observed.

• Genomics & Informatics
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• 제6권3호
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• pp.130-135
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• 2008

The haplotypes of a 200 kb region in the human chromosome X terminal band (q28) were analyzed using the International HapMap Project Phasell data, which had been collected for three analysis panels (YRI, CEU, and CHB＋JPT). When multiple linkage disequilibrium blocks were encountered for a panel, the neighboring haplotypes that had crossover rate of 5% or more in the panel were combined to generate 'haploid' configurations. This resulted in 8, 7, and 5 'haploid' configurations for the panels of YRI, CEU, and CHB＋JPT, respectively. The multiple sequence alignment of these 'haploids' was used for the calculation of allele-sharing distances and the subsequent principal coordinate analysis. Two 'haploids' in CEU and CHB＋JPT were hypothesized as 'parental' in light of the observations that the successive recombinants of these haploids can model two other haploids in CEU and CHB＋JPT, and that their configurations were consistent with those in YRI. This study demonstrates the utility of haplotype phylogeny in understanding population evolution.

• BMB Reports
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• 제54권5호
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• pp.233-245
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• 2021

In eukaryotes, the genome is hierarchically packed inside the nucleus, which facilitates physical contact between cis-regulatory elements (CREs), such as enhancers and promoters. Accumulating evidence highlights the critical role of higher-order chromatin structure in precise regulation of spatiotemporal gene expression under diverse biological contexts including lineage commitment and cell activation by external stimulus. Genomics and imaging-based technologies, such as Hi-C and DNA fluorescence in situ hybridization (FISH), have revealed the key principles of genome folding, while newly developed tools focus on improvement in resolution, throughput and modality at single-cell and population levels, and challenge the knowledge obtained through conventional approaches. In this review, we discuss recent advances in our understanding of principles of higher-order chromosome conformation and technologies to investigate 4D chromatin interactions.

• Journal of Interdisciplinary Genomics
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• 제5권2호
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• pp.13-17
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• 2023

KBG syndrome (KBGS) is a multisystem disorder characterized by short stature, distinctive facial features including macrodontia of upper central permanent incisors, and developmental/cognitive delay. It is caused by variants or deletion of Ankyrin Repeat Domain 11 (ANKRD11) located in chromosome 16q24.3. Since its initial report in 1975, KBG syndrome has been recognized as an exceedingly rare disorder. However, recent advancements in genetic diagnostic techniques have led to an increase in both the diagnosis rate and the number of reported cases, contributing to a rapid increase in its global prevalence. We review the clinical aspects of KBGS, including previously reported and newly reported cases, as well as the related genetic patterns discovered so far.

• 한국미생물·생명공학회지
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• 제51권4호
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• pp.542-544
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• 2023

Methicillin-resistant Staphylococcus pseudintermedius Z0118SP0130 was isolated from eye specimen of a companion dog in South Korea. The complete genome of Z0118SP0130 consisted of a 2,663,277 bp chromosome and there was no plasmid. The strain was identified as the sequence type 45 and contained a mecA gene which comprised of staphylococcal cassette chromosome mec type Vb (5C2&5). Antimicrobial resistance to erythromycin, clindamycin, quinupristin-dalfopristin, trimethoprim-sulfamethoxazole, mupirocin, oxacillin, streptomycin, and gentamicin was observed in the strain.

• Toxicological Research
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• 제19권2호
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• pp.141-146
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• 2003

A nonspecific immunostimulator $BARODON^{\circledR}$ was tested for mutagenicity using Ames Salmonella tester strains TA98, TA1 00, TA 102, TA 1535 and TA 1537 with or without metabolic activation (59 mix). None of the fresh species showed mutagenicity. In the reverse mutation test using Salmonella phimurium TA98, TA100, TA102, TA1535 and TA1537 did not increase the number of revertants at all doses tested (5, 2.5 or 1.25 mg/ml). Chromosome aberration test was carried out in Chinese hamster lung (CHL) cell line. The cells were treated with $BARODON^{\circledR}$ (1, 0.5 or 0.25 mg/ml), while positive control group was treated with Mitomycin C (0.1 mg/ml). The results show that there is no statistically significant difference between positive control and treatment groups. In mouse micronucleus test, there was significant increase in the ratio of micronucleated polychromatic erythrocyte (MNPCE) in the high dose group (10% $BARODON^{\circledR}$), while there is no significance between control and low (2.5% $BARODON^{\circledR}$) or middle (5% $BARODON^{\circledR}$ dose groups. Taken together, this results suggest that below 5% $BARODON^{\circledR}$ might not have mutagenic potential in vitro and vivo systems.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제22권4호
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• pp.287-293
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• 2011

Objectives : The region of chromosome 5p14 is known to be associated with autism spectrum disorder (ASD). The cadherin9 (CDH9) and cadherin10 (CDH10) genes are located in the region of chromosome 5p14 and reported to be associated with ASD in the Caucasian population. We performed an association study to identify if single nucleotide polymorphisms (SNPs) located on the CDH9 and CDH10 genes are associated in the Korean population. Methods : Genomic DNA was extracted from the blood of 214 patients with ASD and 258 controls. SNPs selected from two genes were genotyped using an Illumina Golden-Gate Genotyping assay with VeraCode technology. Statistical analysis was performed using SAS and Plink software. Results : All controls and ASD patients were in Hardy-Weinberg equilibrium. In the results of logistic regression analyses for the genotype model and the chi-square test for the allele model, we found that SNPs on the CDH9 and CDH10 genes were not associated with ASD. Conclusion : Our data suggests that the CDH9 and CDH10 genes are not associated with ASD in the Korean population.

• 한국환경성돌연변이발암원학회지
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• 제18권2호
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• pp.93-97
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• 1998

The results of chromosome aberration test in mammalian cells in culture (Chinese hamster lung fibroblast cells) showed no induction of structural and numerical aberrations by antifungal agents of YH1715 series regardless of metabolic activation. While positive control group (mitomycin C and benzo(a)pyrene) showed structural chromosome aberrations of 37% and 23%, respectively. The in vivo induction of micronuclei was measured in polychromatic erythrocytes in bone marrow of male ddY mouse given YH1715R and YH1729R at 1, 0.5, 0.25 g/kg by p.o. once. After 24 hours, animals were sacrificed and evaluated 40 the incidence of micronucleated polychromatic erythrocytes in whole erythrocytes. Although a positive response for induction of micronuclei in animals treated with mitomycin C demonstrated the sensitivity of the test system for detection of a chemical clastogen, YH1715R did not induce micronuclei in bone marrow of ddY male mice but induced cytotoxicity to bone marrow cells at the highest concentration (1 g/kg, p〈0.05), and YH1729R induced micronuclei in bone marrow of ddY male mice dose dependently (p<0.05) but did not induce cytotoxicity to bone marrow cells.

• Journal of Crop Science and Biotechnology
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• 제11권2호
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• pp.151-156
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• 2008

The objective of this study is to identify main-effect QTLs, epistatic QTLs, and the interactions between QTL and the environment associated with grain appearances of brown rice. A genetic linkage map was created with 172 DNA markers spanning 12 rice chromosomes based on 120 DH lines, which derived from a cross between 'Samgang'(Tongil) and 'Nagdong'(Japonica). One thousandgrain weight, length, width, length-to-width ratio, and thickness were evaluated regarding the DH population. Twenty independent QTLs and fourteen epistatic QTLs were identified in using CIM by two programs, known as WinQTLcart2.5 and QTLMAPPER. The QTLs of qgw9.1 in an interval of RM434-RM242 on chromosome 9 and qgw11.1 at a peak marker of RM287 on chromosome 11 for one thousand-grain weight, qgwi2.2 for grain width at a peak marker of RM450, qlw2.1 for length-to-width ratio flanked by RM492 and RM324, and qgt2.1 for thickness flanked by 2009 and RM492 on chromosome 2 were detected over two years, which can be considered as stable QTLs. The epistatic effect might be an important component for genetic basis of one thousand-grain weight and width. The main-effect QTLs of grain width and length to width ratio were easily influenced by environments.

• Journal of Genetic Medicine
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• 제2권1호
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• pp.1-5
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• 1998

A female hemihypertrophy patient with hypomelanosis of Ito is presented as a rare case combining classical features of both the syndrome. Chromosomal profile has been based on longitudinal study of repeated lymphocyte cultures during 1984-1992. The propositus has exhibited chromosomal mosaicism both hypoploid ($42{\pm}1$) and hyperploid ($48{\pm}2$ chromosome) counts, but the major stem line presented 46XX chromosomes. Ring chromosome with simple and complex translocations with marker dots appear to be the major cytogenetic assemblage of this child to posses unequal left and right halves of the body. Each and every organ from toe to the head has grown up unequally and lately the patient had been exhibiting different dark and light shapes of melanin on the skin. We believe that the patient had inherited, through her male parent, "a few" mutated loci on some chromosomes so as to generate different cell lines within the developing child. All sibs and the mother showed normal karyotype with no apparent aberration.