• Korean Journal of Fisheries and Aquatic Sciences
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• v.30 no.3
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• pp.408-412
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• 1997

The cytogenetic analysis of river puffer, Takifugu obscurus belongs to Family Tetraodontidae, was performed. The chromosome number of T. obscurus was 44 and the fundamental number was 64. Heteromorphic sex chromosomes were not found. The mean cellular size and nuclear size were $11.01\times7.95{\mu}m$ and $4.05\times3.15{\mu}m$, respectively. The mean surface area and volume in cell and nucleus were $68.76{\mu}m^2\;and\;366.00{\mu}m^3,\;10.06{\mu}m^2\;and\;21.36{\mu}m^3$, respectively. The number of erythrocyte of both female and male was $12\~13\times10^5/m\ell$. Gill tissues from diploid individuals had cells with one or two nucleoli. These cytogenetic studies should be used for cytotaxonomy and as a valuable estimation of polyploidy to come in T. obscurus.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.7 no.2
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• pp.103-106
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• 2011

다운 증후군(Down syndrome, Trisomy 21)은 가장 흔하게 나타나는 증후군으로 대략 1/1000의 확률로 태어난다. 세 개의 유전적 유형이 있지만, 95% 정도가 3개의 21번 염색체를 갖는 비분리 염색체 유형이다. 주된 구강 증상으로는 거대설, 균열설, 과잉치, 결손치, 왜소치, 유치와 영구치의 맹출지연 그리고 이에 따른 부정교합 등이 있다. 75%의 환자에서는 어린 나이에 치주질환에 이환되기 쉬우며, 치아우식증에는 낮은 이환율을 보인다는 보고가 있다. 급성 림프구성 백혈병(Acute Lymphoblastic Leukemia)은 주로 어린이에서 나타나며, 특히 다운 증후군 환자에서의 발병율은 정상인에 비해 20배 높다. 치은비대와 출혈의 양상이 주로 나타나며, 간혹 상악골과 구개골에 종괴가 관찰 되기도 한다. 본 증례에서는 서울대학교치과병원 소아치과에 내원한 환자 중 급성림프구성 백혈병을 앓고 있는 다운 증후군 환아가 있어 이를 보고하고자 한다.

• Korean Journal of Microbiology
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• v.45 no.4
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• pp.430-434
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• 2009

Bacterial 16S rRNA gene sequences have been widely used for the studies on molecular phylogeny, evolutional history, and molecular detections. Bacterial genomes have multiple rRNA operons, of which gene sequences sometimes are variable. In the present study, heterogeneity of the Vibrio 16S rRNA gene sequences were investigated. Vibrio 16S rRNA sequences were obtained from GenBank databases, considering the completion of gene annotation of Vibrio genome sequences. These included V. cholerae, V. harveyi, V. parahaemolyticus, V. splendidus, and V. vulnificus. Chromosome 1 of the studied Vibrio had 7~10 copies of the 16S rRNA gene, and their intragenomic variations were less than 0.9% dissimilarity (more than 99.1% DNA similarity). Chromosome 2 had none or single 16S rRNA gene. Intragenomic 16S rRNA genotypes were detected at least 5 types (V. vulnificus #CMCP6) to 8 types (V. parahaemolyticus #RIMD 2210633, V. harveyi #ATCC BAA-1116). These suggest that Vibrio has high heterogeneity of the 16S rRNA gene sequences.

• Korean Journal of Microbiology
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• v.55 no.2
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• pp.164-166
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• 2019

The complete genomic information of Microbacterium aurum KACC $15219^T$ (= IFO $15204^T$ = DSM $8600^T$) is described. The genome of M. aurum KACC $15219^T$ contains 3,096 protein coding genes and an average G+C content of 69.9% in its chromosome (3.42 Mbp). This strain can use various carbon sources for growth, including quinic acid. Quinic acid is used as a substrate for the synthesis of aromatic amino acids via the shikimate pathway which are useful in the industry. M. aurum KACC $15219^T$ will provide basis to improve our understanding of this organism and allow more efficient application of the strain to industry.

• Journal of Physiology & Pathology in Korean Medicine
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• v.34 no.6
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• pp.355-361
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• 2020

This study was designed to assess the toxicity of capsaicin-containing (CP) pharmacopunture using an in vitro chromosomal aberrations in Chinese hamster lung (CHL/IU) cells. In order to determine the high dose level in the main study of this study, a dose range finding study was conducted first. The high dose was selected at 10.0% of CP pharmacopuncture extract, and then diluted sequentially to produce lower dose levels of 5.00, 2.50, 1.25, 0.625 and 0.313% by applying a geometric ratio of 2. As a result, the cytotoxicity and precipitation of the CP pharmacopuncture as a test substance were not evident at any dose level during short-time treatment with and without metabolic activation and continuous treatment without metabolic activation. Therefore, the dose levels for this study were chosen as 10.0, 5.0, and 2.5%., and the treatment volume was 1.3 mL. In addition, negative and positive controls were set. In main study, the frequency of cells with chromosome aberrations in CP treated groups was less than 5% in short-time treatment with and without metabolic activation and continuous treatment without metabolic activation. In addition, there was no statistically significant difference when compared to the negative control group. The frequency of cells with structural chromosomal aberrations in the positive control group was more than 10% compared to the negative control group, and it increased statistically significantly. In conclusion, under the conditions of this study, CP pharmacopuncture did not show the possibility of causing chromosome aberrations.

• Journal of Genetic Medicine
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• v.6 no.1
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• pp.67-73
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• 2009

Purpose : In spite of the karyotype and phenotype diversity in Turner syndrome patients, there are few reports about such differences in Korea. We reviewed the data of chromosome abnormalities, clinical manifestations, and comorbidities of Turner syndrome patients in Kyungpook National University Hospital to compare them to the recent hypotheses about sex chromosome gene loci related to Turner symptoms. Materials and Methods : We identified the cytologic findings of 92 patients with Turner syndrome and the clinical findings of 62 patients among them. Results : 54.3 percent of patients had 45,X while 45.7 percent showed other karyotype combinations (45,X/46,XX, 45,X/46,XX/47,XXX, 46,X,del(Xp), 46,X,del(Xq), 45,X/46,X,del(Xq), 46,X,i(Xq), 45,X/46,X,i (Xq)). The Turner symptoms found included short neck, high arched palate, broad chest, Madelung deformity, short metacarpals, scoliosis, cubitus valgus, low hair line, webbed neck, edematous extremities, pigmented nevus, and sexual infantilism. The specific diseases associated Turner syndrome included renal abnormalities, congenital heart disease, hearing defects, diabetes mellitus, hyperlipidemia, and decreased bone density. The phenotype of the mosaicism group was milder than that of the monosomy group. In the case of 46,X,del(Xp) and 45,X/46,X,del(Xq) groups, all had skeletal abnormalities, but the 46,X,del(Xq) group had none. In the case of 46,X,del(Xp) group, all showed short statures and skeletal abnormalities, but no sexual infantilism was observed. In the case of 46,X,i(Xq) and 45,X/46,X,i(Xq) groups, they all showed delayed puberty and had primary amenorrhea. Conclusion : It is important to study karyotype-phenotype correlations in patients with Turner syndrome to obtain interesting information about the genotype-phenotype correlations related to the X chromosome.

• Journal of the Korean Data and Information Science Society
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• v.28 no.3
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• pp.597-604
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• 2017

In this study, we investigated the genetic characteristics and the effective population size of domestic dairy cattle using 42,201 SNPs for 923 heads of Holstein cattle. The estimate for the average linkage disequilibrium ($r^2$) among the adjacent SNPs by chromosome was 0.22, and it was highest (0.26) in chromosome 14 and lowest (0.17) in chromosome 27. When the physical distance among SNPs was less than 25Kb, the estimate for the average $r^2$ was $0.31{\pm}0.33$ and it was markedly decreased as the physical distance increased. When the physical distance among SNPs was larger than 25Mb, the estimate for the average $r^2$ was 0.04, and it decreased by 0.27 (87.1%) compared with case of physical distance of less than 25Kb. There was a trend that the effective population size in Holstein dairy cattle decreased over generations and the estimate for the effective population size in the first 5 generations (1~5th generation) was 110 heads.

• Korean Journal of Animal Reproduction
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• v.21 no.1
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• pp.47-52
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• 1997

The objective of this study was to investigate the in vitro / in vivo embryonic development after vitrification of mouse zygotes and the chrom osomal normality of delivered live young after embryo transfer. Mouse IVF zygotes were cryopreserved by vitrification using vitrification solution, EFS40 (40% ethylene glyc이, 30% Ficoll a and 0.3 M sucrose in phosphate buffer saline c containing 10% FBS ) . After mouse zygotes were exposed to EFS40 at 25"C for 30 sec., they were immediately plunged into LN$_2$. Vitrified thawed mouse zygotes were cultured upto bIastocysts in M16 for 4 days. The rates of in vitro development were 71.5% under this condition. Cultured blastocysts were transferred to recipients (3 day of pseudopregnant) on one or both uterus horns (6-8 embryos per a uterus horn). And all recipients were allowed to produce litters. The results obtained in these experiments were summarized as follows: The pregnancy rates and in vivo survival rates, live fetus rates, for vitrified zygotes (80.0, 39.6%) were not significantly difference in those of control zygotes (77.8%, 50.0%). Also, all of live-born young mice were chromosomally normal (n=40). This results suggested that proposed rapid vitrification procedures can be effectively use in 1-cell mouse zygotes cryopreservation.

• Korean Journal of Animal Reproduction
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• v.20 no.3
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• pp.323-331
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• 1996

Predetermination of sex in mammalian species has many aspects of application including the prenatal diagnoses of genetic disorders in humans and sex-selected breeding programs in the animal industry. Embryos sexing can be carried out using the polymerase chain reaction (PCR) to amplify specific sequences present in the sex chromosomes, or by fluorescent in situ hybridization (FISH) of specific probes to the X and Y chromosomes. A 3.3 kb porcine male-specific DNA fragment (pEM39) was cloned previously in our laboratory. In this study, FISH and PCR methods were employed to examine if the pEM39 can be used a sex-specific DNA probes Porcine ovaries were obtained from a local slaughter house and oocytes collected. All oocytes were subjected to in vitro maturation followed by 1n vitro fertilization. Parthenogenetically activated embryos were served as a negative control. Embryonic samples were collected at the 2-cell stages and PCR was performed to analyze DNA. Among 10 embryos examined, four embryos were identified as males and six were females. The cloned male-specific DNA fragment showed male-specificity for the cells in the liver tissue and the porcine early embryos by FISH. It was also demonstrated that the cloned male-specific DNA is localized on the hetero chromatic region of the long arm in the Y chrom-osome (Yq) as shown by the FISH and karyotyping. The results suggest that the cloned male-specific DNA fragment may be useful for predetermination of sex with a few embryonic cells. The porcine male-specific sequence can be a reliable index for embryo sexing by PCR.

• Korean Journal of Breeding Science
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• v.50 no.4
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• pp.434-441
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• 2018

High-density genetic linkage mapping is critical for undertaking marker-assisted selection and confirming quantitative trait loci, as well as helping to build pseudomolecules of genomes. We constructed a genetic map using 94 $F_1$ populations generated from the interspecific cross between Korean cultivar "Wonwhang" (Pyrus pyrifolia, NCBI BioSample SAMN05196235) and European cultivar "Bartlett" (Pyrus communis). We designed a total of 24,267 SSR markers based on the genome sequences of "Wonwhang" for this. To select the markers that are linked to the traits important in pear breeding programs, SSR-containing genomic sequences were subjected to nucleotide sequence homology searches, which resulted in 510 SSR markers with high similarity to genes encoding proteins with putative functions such as transcription factors, resistance proteins, flowering time, and regulatory genes. Of these, 70 markers showed polymorphisms in parents and segregating populations and were used to construct a genetic linkage map, together with the unpublished 579 SNPs obtained from genotyping by sequencing analysis. The genetic linkage map covered 3,784.2 cM and the average distance between adjacent markers was 5.8 cM. Seventy SSR markers were distributed across 17 chromosomes with more than one locus.