• Title/Summary/Keyword: human chromosome

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Characterization of microsatellite markers covering chromosome 1 in the Korean and Japanese populations (한국인과 일본인에서 1번 염색체에 부착되는 microsatellite marker의 특징)

  • Lee, You-Jin;Park, Soo-Byung
    • The korean journal of orthodontics
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    • v.34 no.6 s.107
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    • pp.537-543
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    • 2004
  • Microsatellit markers are considered to be very promising genetic markers for genetic linkage analysis. The majority of the markers are as informative as in Caucasians but there are significant ethnic differences in the genetic variations. In order to investigate the genetic variations in the Korean and Japanese populations and their ethnic differences, 51 microsatellite marker loci spanning the whole human chromosome 1 were arranged from a commercially available set (ABI PRISM Linkage Mapping Set-HD5, Applied Biosystems, Foster City, CA, USA), and then determined the allelic frequencies and heterozygosities for these marker loci in the 90 unrelated Korean subjects and 90 unrelated Japanese subjects. Of all 51 markers tested, significant differences were observed when microsatellite allele frequency pattern of Korean was compared with those of Caucasian, while this pattern was highly similar between Korean and Japanese populations. Our data indicate that an extensive verification of public microsatellite markers in a particular population study should be undertaken prior to their linkage studies. Moreover, this information should facilitate genetic linkage studies of various hereditary diseases, especially in the Koreans and Japanese.

The Optimization of Human Sperm Decondensation Procedure for Fluorescence in Situ Hybridization (Fluorescence in Situ Hybridization 시행을 위한 인간정자 탈응축법의 적정화)

  • Pang, Myung-Geol
    • Clinical and Experimental Reproductive Medicine
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    • v.24 no.3
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    • pp.369-375
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    • 1997
  • Studies were conducted to determine the efficiency of decondensation protocols. Sperm obtained from seven normal donors was immediately washed after liquefaction and then decondensed using the method of West et al. (1989) and my original protocol. My optimized protocol entailed mixing 1 ml aliquots of semen with 4 ml phosphate buffered saline (PBS). Following centrifugation, pellets were resuspended in 1 ml PBS containing 6 mM EDTA. After centrifugation, pellets were resuspended in 1 ml PBS containing 2 mM dithiothreitol at $37^{\circ}C$ for 45 min. Following mixing with 2 ml PBS and centrifugation, pellets were resuspended by vortexing. While vortexing, 5 ml of fixative were gently added. Slide preparation was accomplished using the smear method and it was stored at $4^{\circ}C$. When comparing these protocols, the degree of sperm decondensation and head swelling was monitored by measuring nuclear length, area, perimeter, and degree of roundness using FISH analysis software. Apparent copy number for chromosome 1 and, separately, for the sex chromosomes was determined by FISH using satellite DNA probes for loci DIZ1, DXZ1 and DYZ3. Sperm treated by my decondensation protocol showed significant increases (p<0.05) in length, area, perimeter, and degree of roundness. There was a significant decrease (p<0.05) in the frequency of nuclei displaying no signal but no change in the frequency of nuclei with two signals in samples decondensed by my protocol. My data suggested that decondensation using my original protocol may lower the frequency of cells with spurious "nullisomy" due to hybridization failure without inducing spurious "disomy" resulting from increased distances between split signals.

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A Study on Metamorphosed-Genetic Algorithms by Applying the Meiosis for the Chromosome (염색체의 감수분열을 응용한 변형 유전알고리즘에 대한 연구)

  • Lee, Deog-Kyoo;Ko, Soung-Jun;Yi, Seok-Joo;Kim, You-Nam;Kim, Hag-Bae
    • The Transactions of the Korea Information Processing Society
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    • v.7 no.6
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    • pp.1844-1851
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    • 2000
  • In this paper, a metamorphosed genetic algorithm based on the meiosis for human's chromosome is presented. In the algorithm, chromosomes in an individual are divided in half and in the other are divided into other rate. By our definition, they are composed of gametes with X-type chromosomes or Y-type chromosomes or especially M(mutation)-type chromosomes. When tow gametes among them are randomly selected and recombined, the new individual is correspondingly generated. Without reducing the searching space significantly, the global solution can be readily searched by new generated individual. The performance of he presented algorithm is examined and evaluated through proper simulation using test functions.

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Genotoxicity of Di-2-Ethylhexyl phthalate, 2-EthylHexanoic Acid and Di-2-Ethyl Phthalate in Human Lymphocytes in vitro (Di-2-EthylHexyl Phthalate, 2-EthylHexanoic Acid 및 Di-2-Ethyl Phthalate의 유전독성 평가)

  • Song, Joo-Young;Cho, Yoon-Hee;Kim, Yang-Jee;Chung, Hai-Won
    • Environmental Mutagens and Carcinogens
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    • v.25 no.3
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    • pp.110-117
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    • 2005
  • DEHP is one of well known endocrine disrupter and it is used as additives for the production of PVC. There has been contradictional result on the genotoxicity of DEHP. In order to examine genotoxicity of a endocrine disruptors, DEHP (Di-2-EthylHexyl Phthalate) and it's metabolites, EHA (2-EthylHexanoic Acid) and DEP (Di-2-Ethyl Phthalate), chromosome aberration (CA), sister chromatid exchange (SCE), micronuclei (MN) and single cell gel electrophoresis were analysised. No increase of the frequency of CA was observed by DEHP and its two metabolites. DEHPincreased the frequency of SCE and MN whereas EHA only increased the frequency of SCE. DEP increased the frequency of SCE but the increase was not statistically significant. DEHP and DEP, also induced DNA damage. It is suggested that combination of different methods were recomended to find the genotoxicity of DEHP and its metabolites.

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Molecular Characterization and Expression Patterns of Porcine Eukaryotic Elongation Factor 1 A

  • Wang, H.L.;Wang, H.;Zhu, Z.M.;Yang, S.L.;Fen, S.T.;Li, Kui
    • Asian-Australasian Journal of Animal Sciences
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    • v.19 no.7
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    • pp.953-957
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    • 2006
  • The eukaryotic elongation factor 1 A (EEF1A) participates in protein synthesis by forming the eEF1A GTP tRNA complex to deliver aminoacyl-tRNA to the A site of ribosomes. This study described cDNA sequences and partial genomic structure of porcine EEF1A1. The porcine EEF1A1 gene encoded a protein with 462 amino acids, which shared complete homology with human, chimpanzee and dog. The temporal expression pattern showed the diversity of EEF1A1 level in mRNA was relatively minor in prenatal embryo skeletal muscle, however, the expression decreased during aging after birth in skeletal muscle of the Chinese Tongcheng pig. The spatial expression patterns indicated that the gene expressed in skeletal muscle, heart, lung, liver, kidney, fat and spleen. In addition, we assigned the gene to porcine chromosome 1 using a radiation hybrid panel.

A Study on the Sex Determination of Human Dental Pulp by Y-Chromosome (치수조직염색체에서의 F-body검출에 의한 성별판정에 관한 연구)

  • 박동호;김종열
    • Journal of Oral Medicine and Pain
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    • v.9 no.1
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    • pp.127-138
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    • 1984
  • The author had tried to identify the sex from single tooth by detecting F-body of Y-chromosome in the nucleus of the dental pulp cells of 70 persons aged from 4 to 61 years under a fluorescent miscroscope. The results were as follows : 1. In the cell nuclei of male and female dental pulp at refrigeratory, the rate of F-body appearancd ranged 42-86%(average 61.06%) in male, while it was 0-6%(average 1.86%) in female, indicationg that male could be distinctly differentiated from female by F-body. 2. With male and female dental pulp puterfide by leaving in at room temperature, the rate of F-body appearance ranged 35-58%(average 48.20%) in male, 1-3%(average1.70%) in female, indicating that it was possible to distinguish male and female by F-body. 3. Even in heat-treated male teeth at $100^{\circ}C$,10 mins, the rate of F-body appearace proved to be 32-56%(averaged 42.50%), also indicating the possibility of identifying male. 4. When detecting of F-body in process of time, the rate of F-body appearance did not show major charges. 5. It was reaffirmed that F-body detection method was a positive determination method of male.

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Mutagenicity Tests on CJ-50005 (Hepatitis A Vaccine) (CJ-50005 (A형 간염백신)에 대한 유전독성시험)

  • 김종호;이은영;김달현;김현석
    • Toxicological Research
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    • v.17 no.3
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    • pp.235-239
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    • 2001
  • CJ-50005 is an inactivated whole virus vaccine derived from hepatitis A virus (HM175) grown in human MRC-5 diploid fibroblasts cell culture. In order to evaluate the mutagenic potential of CJ-50005, : 3 sets of mutagenicity tests were performed. In the reverse mutation test wing Salmonella typhimurium TA1535, TA1 537, TA98, TA100 and TA102, CJ-50005 did not increase the number of revertants at any concentration tested in this study (2.8, 1.4, 0.7, 0.35 and 0.175 $\mu\textrm{g}$/plate). CJ-50005, at concentration of 2.8, 1.4 and 0.7 $\mu\textrm{g}$/ml, did not increase the number of cells having structural or numerical chromosome aberration in cytogenic test using Chinese Hamster Lung cells. In mouse micronucleus test, no significant increase in the occurrence of micronucleated polychromatic erythrocytes was observed in ICR male and female mice intraperitoneally administered with CJ-50005 at the doses of 25, 12.5 and 6.25 $\mu\textrm{g}$/kg. These results indicate that CJ-50005 has no mutagenic potential in these in vitro and in vivo system.

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Genetic Causes in Male Infertility of Human (남성 불임의 유전성 요인)

  • 김의수;이건수
    • Development and Reproduction
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    • v.3 no.1
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    • pp.1-13
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    • 1999
  • It is believed that genetic defects make an important contribution to male infertility. Since spermatogenesis is such a complex process, it seems inevitable that many genes are involved in controlling the entire development of germ cells. Genes for infertility, however, are considered to be only those which are defected in the reproduction ability, but normal in other functions. Microdeletions of the Y chromosome have been observed frequently in infertile males. At least two genes, RBM and DAZ, are known to present in the loci where microdeletions occur frequently. A number of autosomal genes were also considered as candidates of infertility genes, based on phenotypes of knockout mice that were deficient of these genes.

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Molecular Characteristics and Exotoxins of Methicillin-Resistant Staphylococcus aureus

  • Bae, Jinyoung;Jin, Hyunwoo;Kim, Jungho;Park, Min;Lee, Jiyoung;Kim, Sunghyun
    • Biomedical Science Letters
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    • v.27 no.4
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    • pp.195-207
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    • 2021
  • Methicillin-resistant Staphylococcus aureus (MRSA) is a bacterial pathogen capable of causing human diseases, such as soft tissue infection, bacteremia, endocarditis, toxic shock syndrome, pneumonia, and sepsis. Although the incidence rate of diseases caused by MRSA has declined in recent years, these diseases still pose a clinical threat due to their consistently high morbidity and mortality rates. However, the role of virulence factors in staphylococcal infections remains incompletely understood. Methicillin resistance, which confers resistance to all β-lactam antibiotics in cellular islets, is mediated by the mecA gene in the staphylococcal cassette chromosome mec (SCCmec). Differences in SCCmec types and differences in their sizes and structures serve epidemiological purposes and are used to differentiate between hospital-associated (HA)-MRSA and community-associated (CA)-MRSA. Some virulence factors of S. aureus are also providing a distinction between HA-MRSA and CA-MRSA. These factors vary depending on the presence of toxins, adhesion, immune evasion, and other virulence determinants. In this review, we summarized an overview of MRSA such as resistance mechanisms, SCCmec types, HA- and CA-MRSA, and virulence factors that enhance pathogenicity or MRSA epidemiology, transmission, and genetic diversity.

Sex and Population Differences in Intelligence Are Partly Caused by Sexual Selection: Hn Evolutionary Hypothesis

  • Piffer, Davide
    • Interdisciplinary Bio Central
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    • v.6 no.4
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    • pp.2.1-2.7
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    • 2014
  • Sexual dimorphism in intelligence suggests that this phenotype is a sexually selected trait. This view is supported by an overrepresentation (compared to the autosomal genome) of genes affecting cognition on the X chromosome. The aim of this study is to test the hypothesis that sexual selection can explain sex and country-level differences in performance on tests of fluid intelligence. Nationally representative samples from N = 44 countries were obtained from the Programme for International Student Assessment (PISA) Creative Problem Solving (CPS), which evaluates the core of intelligence, that is novel problem solving ability. Sexual selection has the double effect of increasing the prevalence of a favored phenotype and reducing genetic variation in sexually selected traits. Matching these predictions from evolutionary theory, the average country fluid intelligence is positively correlated to sexual dimorphism after partialling out per capita GDP and the latter in turn is inversely correlated to variance in intelligence scores within populations. Males have a higher variance than females but there is a negative correlation between male-female difference in variance and sexual dimorphism in intelligence, suggesting that selection reduces variance more in the selected sex. Average country male height is negatively correlated to sexual dimorphism in intelligence, a fact that supports the notion of a trade-off between physical and intellectual competition in the context of access to females. The results of this study, if replicated, imply that genome-wide association studies of cognition may benefit from a focus on sex chromosomes, which so far have been neglected. Another implication of this study is that intelligence has continued to evolve after different human populations migrated out of Africa and possibly up to the 19th century, as suggested by the substantial variability in sex differences even between neighbouring countries.