• Title/Summary/Keyword: Chromosome 18

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Outcome of Preimplantation Genetic Diagnosis in Patients with Klinefelter Syndrome (클라인펠터 증후군 환자에서 착상전 유전진단의 결과)

  • Kim, Jin-Yeong;Lim, Chun-Kyu;Jun, Jin-Hyun;Park, So-Yeon;Seo, Ju-Tae;Cha, Sun-Hwa;Koong, Mi-Kyoung;Kang, Inn-Soo
    • Clinical and Experimental Reproductive Medicine
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    • v.31 no.4
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    • pp.253-260
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    • 2004
  • Objectives: Klinefelter syndrome is the most common genetic cause of male infertility and presents with 47, XXY mainly or 46, XX/47, XXY mosaicism. It is characterized by hypogonadism and azoospermia due to testicular failure, however, sporadic cases of natural pregnancies have been reported. With the development of testicular sperm extraction (TESE) and intracytoplasmic sperm injection (ICSI), sperm can be retrieved successfully and ART is applied in these patients for pregnancy. It has been suggested that the risk of chromosome aneuploidy for both sex chromosome and autosome is increased in the sperms from 47, XXY germ cells. Considering the risk for chromosomal aneuploidy in the offspring, preimplantation genetic diagnosis (PGD) could be applied as a safe and more effective treatment option in Klinefelter syndrome. The aim of this study is to assess the outcome of PGD cycles by using FISH for sex chromosome and autosome in patients with Klinefelter syndrome. Materials and Methods: From Jan. 2001 to Dec. 2003, PGD was attempted in 8 cases of Klinefelter syndrome but TESE was failed to retrieve sperm in the 3 cases, therefore PGD was performed in 8 cycles of 5 cases (four 47, XXY and one 46, XY/47, XXY mosaicism). In one case, ejaculated sperm was used and in 4 cases, TESE sperm was used for ICSI. After fertilization, blastomere biopsy was performed in $6{\sim}7$ cell stage embryo and the chromosome aneuploidy was diagnosed by using FISH with CEP probes for chromosome X, Y and 17 or 18. Results: A total of 127 oocytes were retrieved and ICSI was performed in 113 mature oocytes. The fertilization rate was $65.3{\pm}6.0%$ (mean$\pm$SEM) and 76 embryos were obtained. Blastomere biopsy was performed in 61 developing embryos and FISH analysis was successful in 95.1% of the biopsied blastomeres (58/61). The rate of balanced embryos for chromosome X, Y and 17 or 18 was $39.7{\pm}6.9%$. The rate of aneuploidy for sex chromosome (X and Y) was $45.9{\pm}5.3%$ and $43.2{\pm}5.8%$ for chromosome 17 or 18, respectively. Embryo transfer was performed in all 8 cycles and mean number of transferred embryos was $2.5{\pm}0.5$. In 2 cases, clinical pregnancies were obtained and normal 46, XX and 46, XY karyotypes were confirmed by amniocentesis, respectively. Healthy male and female babies were delivered uneventfully at term. Conclusion: The patients with Klinefelter syndrome can benefit from ART with TESE and ICSI. Considering the risk of aneuploidy for both sex chromosome and autosome in the sperms and embryos of Klinefelter syndrome, PGD could be offered as safe and more effective treatment option.

A whole genome association study to detect additive and dominant single nucleotide polymorphisms for growth and carcass traits in Korean native cattle, Hanwoo

  • Li, Yi;Gao, Yuxuan;Kim, You-Sam;Iqbal, Asif;Kim, Jong-Joo
    • Asian-Australasian Journal of Animal Sciences
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    • v.30 no.1
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    • pp.8-19
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    • 2017
  • Objective: A whole genome association study was conducted to identify single nucleotide polymorphisms (SNPs) with additive and dominant effects for growth and carcass traits in Korean native cattle, Hanwoo. Methods: The data set comprised 61 sires and their 486 Hanwoo steers that were born between spring of 2005 and fall of 2007. The steers were genotyped with the 35,968 SNPs that were embedded in the Illumina bovine SNP 50K beadchip and six growth and carcass quality traits were measured for the steers. A series of lack-of-fit tests between the models was applied to classify gene expression pattern as additive or dominant. Results: A total of 18 (0), 15 (3), 12 (8), 15 (18), 11 (7), and 21 (1) SNPs were detected at the 5% chromosome (genome) - wise level for weaning weight (WWT), yearling weight (YWT), carcass weight (CWT), backfat thickness (BFT), longissimus dorsi muscle area (LMA) and marbling score, respectively. Among the significant 129 SNPs, 56 SNPs had additive effects, 20 SNPs dominance effects, and 53 SNPs both additive and dominance effects, suggesting that dominance inheritance mode be considered in genetic improvement for growth and carcass quality in Hanwoo. The significant SNPs were located at 33 quantitative trait locus (QTL) regions on 18 Bos Taurus chromosomes (i.e. BTA 3, 4, 5, 6, 7, 9, 11, 12, 13, 14, 16, 17, 18, 20, 23, 26, 28, and 29) were detected. There is strong evidence that BTA14 is the key chromosome affecting CWT. Also, BTA20 is the key chromosome for almost all traits measured (WWT, YWT, LMA). Conclusion: The application of various additive and dominance SNP models enabled better characterization of SNP inheritance mode for growth and carcass quality traits in Hanwoo, and many of the detected SNPs or QTL had dominance effects, suggesting that dominance be considered for the whole-genome SNPs data and implementation of successive molecular breeding schemes in Hanwoo.

Spermatogenesis and Chromosome Number of the Tobacco Budworm Helicoverpa assulta Guenee (Lepidoptera: Noctuidae) (담배나방(Helicoverpa assulta: 인시목 밤나방과)의 정자형성 과정과 염색체수)

  • 유종명;정성은;박희윤;채순용;김상석
    • Journal of the Korean Society of Tobacco Science
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    • v.18 no.1
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    • pp.12-20
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    • 1996
  • The spermatogenesis and chromosome number were investigated in the pupal testes of Helicouerpa assulta Guenee by light microscopy. During the spermatogenesis, each bundle of P8(256) sperms developed by 6 mitotic and 2 meiotic spermatogonial divisions. From the early stage of spermatogenesis, it was distinguishable between two kinds of sperm differentiation, eupyrene and apyrene spermatogenesis, which are characteristic in Lepidoptera, by the differences in nuclear shape and cell distribution in immature spermatocyst. Through the followed spermiogenesis, the spermatocysts were developed into two kinds of mature cyst, a streamline-shaped eupyrene cyst with nucleated sperms of thready head or a long spindle-shaped apyrene cyst with anucleated sperms of cylindrical head. As the results off chromosomal analysis at metaphase of the spermatogonial mitosis and spermatocytic meiosis, the chromosome number were 2n=6a/n=31, respectively, and no variation between individuals.

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Genotoxicify Studies of on Antihypertensive Agent, SKP-450 (고혈압 치료제 SKP-450의 유전독성평가)

  • 하광원;오혜영;박장환;허옥순;손수정;한의식;류근호;조용백
    • Environmental Mutagens and Carcinogens
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    • v.18 no.2
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    • pp.123-128
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    • 1998
  • To evaluate the genotoxicity of SKP-450, an antihypertensive agent the in vitro reverse mutation assay using Salmonella typhimurium, the Chromosome aberration assay using Chinese hamster lung (CHL) cells and the in vivo micronucleus assay using bone marrow cells of ddY mice were performed. In the Reverse mutation test, SKP-450 did not induced mutagenicity in Salmonella typhimurium TA 98, TA 100, TA 1535 and TA 1537 with and without metabolic activation. In the chromosome aberration assay using CHL cells, there was no increased incidence of structural and numerical aberrations with and without metabolic activation. The in vivo induction of micronuclei was measured in polychromatic erythrocytes of bone marrow of male ddY mice at 30 hours after treatment with SKP-450 by p.o once. The results showed no increased incidence of micronucleated polychromatic erythrocytes in bone marrow of ddY male mice treated with SKP-450.

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Genetic Toxicity Studies of YH1226, a Cephalosporin Antibiotic (세파계 항생제, YH1226의 유전독성 평가)

  • 허광원;오혜영;박장환;허옥순;순수정;한의식;김명희;강희일
    • Environmental Mutagens and Carcinogens
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    • v.18 no.2
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    • pp.89-92
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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 YH1226, a cephalosporin antibiotic regardless of metabolic activation, while positive control group (mitomycin C and benzo(a)pyrene) showed structural chromosome aberrations of 25% and 10%, respectively. The in vivo induction of micronuclei was measured in polychromatic erythrocytes in bone marrow of male ddY mouse given YH1226 at 500, 250, 125 mg/kg by i.p. once. After 24 hours, animals were sacrificed and evaluated for 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, YH1226 did not induce microunclei in bone marrow of ddY male mice.

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Genotoxicicological Safety Estimate for the Rhus-II (옻나무 추출액(Rhus-II)의 안전성에 관한 유전독성학적 평가)

  • Choi Changsun;Han Dong Un
    • Journal of Food Hygiene and Safety
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    • v.20 no.1
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    • pp.18-21
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    • 2005
  • These observations were performed to investigate the safety of the natural herbs (Rhus-II) in respect of genotoxicity. This substance was examined in two in-vitro tests: (1) Salmonella typhimurium reversion assay (Ames test) in strain TA 98, TA 100, TA 1535 and TA 1537, (2) in vitro chromosome aberration test in cultured Chinese hamster ovary (CHO) cells. In the reverse mutation test, Rhus-II did not induced mutagenicity in Salmonella typhimurium reversion assay(Ames test) with or without metabolic activation. In the chromosome aberration assay using CHO cells, there was no increased incidence of structural and numerical aberrations with or without metabolic activation. These results indicated that, the Rhus-II had no genotoxicity.

Gamma-ray Induced DNA Repair Synthesis in Relation to Chromosome Exchanges in Mammalian Cells in Vitro (哺乳動物細胞에 있어 감마線에 의한 DNA 回復合成과 染色體交換과의 聯關性)

  • Park, Sang-Dai
    • The Korean Journal of Zoology
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    • v.18 no.1
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    • pp.41-49
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    • 1975
  • Dose response and time dependence of DNA repair synthesis were investigated to determine the possible relationship between DNA repair synthesis and chromosome exchanges in $\\gamma$-ray irradiated BHK-21 and KB cell lines. DNA repair synthesis induced by $\\gamma$-ray was dose dependent up to 5kR, then leveling off occurred until 50 kR was reached. Time dependence of DNA repair synthesis was continued for up to 1$\\sim$2 hours after irradiation although the initial dose responses were cell line specific. Chromosome exchanges induced by $\\gamma$-ray showed different radiosensitivities in these cell lines and did not show a correlation with the DNA repair synthesis.

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Bootstrapping of Hanwoo Chromosome17 Based on BMS1167 Microsatellite Locus

  • Lee, Jea-Young;Lee, Yong-Won;Yeo, Jung-Sou
    • Journal of the Korean Data and Information Science Society
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    • v.18 no.1
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    • pp.175-184
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    • 2007
  • LOD scores and a permutation test for detecting and locating quantitative trait loci (QTL) from the Hanwoo economic trait have been described and we selected a considerable major BMS1167 locus for further analysis. K-means clustering analysis, for the major DNA marker mining of BMS1167 microsatellite loci in Hanwoo chromosome17, has been tried and three cluster groups divide four traits. The three cluster groups are classified according to eight DNA marker bps. Finally, we employed the bootstrap test method to calculate confidence intervals using the resampling method to find major DNA markers. We conclude that the major marker of BMS1167 locus in Hanwoo chromosome17 is only DNA marker 100bp.

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Cytological Studies of Cipangopaludina chinensis malleata ( MESOGASTROPODA : Viviparidae ) in Korea (한국산 논우렁이 (논우렁이과)의 세포학적 연구)

  • 박갑만;이준상;송호복;권오길
    • The Korean Journal of Malacology
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    • v.4 no.1
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    • pp.42-49
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    • 1988
  • The chromosome of Cipangopaludina chinensis malleata Chunchon area in 1988 was analysed by using aceto-orcein squash techniques of spermatogonial tissues to obtain mitotic and meiotic chromosomes. The chromosome cycle did not differ, in general, from that found in other snails, C. chinensis malleata has 18 diploid chromosomes and they were identified and classified into 2 groups. The mitotic chromosome complement of this species consists of 2 pairs of metacentric and 7 pairs of submetacentric chromosomes, Spermatogonial metaphase chromosomes range in length from 4.10 ${\mu}{\textrm}{m}$ for the largest pair to 2.20 ${\mu}{\textrm}{m}$ for the smallest pair.

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Chromosome Counts from the Flora of Korea with Emphasis on Apiaceae

  • Sun, Byung-Yun;Park, Jung-Hee;Kwak, Min-Ju;Kim, Chul-Hwan;Kim, Kyung-Sik
    • Journal of Plant Biology
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    • v.39 no.1
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    • pp.15-22
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    • 1996
  • Seventy-three chromosome counts are reported from populations in 70 species from Korea, of which 34 counts in 32 species belong to Apiaceae. New species counts are in Acanthopanax chiisanensis(2n=48), Hydrocotyle japonica(2n=ca.96), H. maritima (n=12), Libanotis coreana (2n=22), Lindera sericea (n=12), Quercus myrsinaefolia (n=12), Rhamnus yoshinoi (n=12), Salix hulteni (n=19), Symplocos chinensis for. pilosa (n=11) and Vaccinium oldhami (n=12). New chromosome level for Asperula odorata (n=11), Cryptotaenia japonica (2n=16) and Sium ninsi (2n=18) is also provided. The taxonomic implications of certain of these counts are discussed.

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