• Title/Summary/Keyword: Genetic Differentiation

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The Analysis of SHP (Small Heterodimer Partner) Gene Mutation in Infertile Patients with Polycystic Ovary Syndrome (PCOS) in Korea (한국인 다낭성 난포증후군 환자에서 SHP 유전자 변이 분석)

  • Lee, Su-Man;Choi, Hueng-Sik;Lee, Sook-Hwan;Han, Jung-Hee;Nam, Bo-Hyun;Kwak, In-Pyung;Nam, Yoon-Sung;Kim, Nam-Keun;Lee, Kyo-Won;Jeon, Hye-Sun
    • Clinical and Experimental Reproductive Medicine
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    • v.28 no.2
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    • pp.141-145
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    • 2001
  • Objective: We inversigated Small Heterodimer Partner (SHP) gene mutation in Korean Polycystic Ovarian Syndrome (PCOS) patients. SHP protein regulates the activity of nuclear receptors which regulate the cellular development and differentiation. Recently, the mutation of SHP gene was found in the obesity and diabetes patients in Japanese group, and suggested that its mutation may involved in pathogenic mechanism of PCOS. Methods: This study was performed in 20 PCOS patients and 20 normal women. The DNAs were extracted from the peripheral bloods, and amplified at each exon (1 and 2) of SHP gene by PCR method. Subsequently, each PCR product was digested with the restriction enzyme indicated below for studying restriction fragment length polymorphism (RFLP). After enzyme digestion, the results of RFLP were compared PCOS patients with control women to find any sequence variation. Results: We examined 9 regions of exon 1 with Msp I, Pvu II, Dde I and 3 regions of exon 2 with Pst I, Dde I. There is no heterozygous or homozygous mutation in patients and control women at these restriction sites. Conclusion: The genetic analysis at our restriction sites in the SHP gene did not show any genetic variation in Korean PCOS patients. Our PCR-RFLP analysis was not covered the entire SHP gene (68 bp/1,006 bp), we need to further analysis of the entire SHP gene.

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Development of an Efficient Method for Obtaining Metaphase Chromosomes in Individual Blastomeres of Mouse and Human Preimplantaion Embryos: Effect of Microtubule Depolymerizing Agents (착상전 배아의 분리된 할구에서 중기염색체 상을 획득하기 위한 효율적인 방법의 개발에 대한 연구: 미세소관 형성 저해제의 효과)

  • Lim, Chun-Kyu;Min, Dong-Mi;Lee, Hyoung-Song;Kim, Jin-Young;Koong, Mi-Kyoung;Kang, Inn-Soo;Jun, Jin-Hyun
    • Clinical and Experimental Reproductive Medicine
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    • v.30 no.2
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    • pp.111-118
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    • 2003
  • Objectives: The development of an useful method for obtaining metaphase chromosomes from a biopsied blastomere would allow differentiation between embryos with balanced and normal chromosome complements in the preimplantation genetic diagnosis for chromosomal translocations. This study was performed to evaluate the effects of microtubule depolymerizing agents (MTDAs) on the blastomeres of mouse and human preimplantation embryos, and to establish an effective method for obtaining metaphase chromosomes of biopsied blastomeres in human early embryos. Materials and Methods: Early embryos (2-4 cell stage) from superovulated mice (ICR strain) were collected and treated with single or mixture MTDAs, such as vinblastine, nocodazole and colcemid. After the treatment of MTDAs for 16 hours, the metaphase aquisition (MA) rates were evaluated by the observation of chromosome status with bis-benzimide or DAPI staining. The optimal condition from the above experiment was applied to human embryos, which were developed from abnormal fertilization (3-pronuclei). Fluorescence in-situ hybridization (FISH) with whole chromosome probes was conducted on the human metaphase chromosomes by the MTDAs. Results: In mouse embryos, the effective concentrations of each MTDAs for obtaining metaphase chromosomes were $1.0{\mu}M$ of vinblastine (20.3%), $5.0{\mu}M$ of nocodazole (28.1%) and $1.0{\mu}M$ colcemid (55.6%), respectively. The highest MA rate (91.2%) in the mouse embryos was obtained by a mixture of vinblastine ($1.0{\mu}M$) and nocodazole ($1.0{\mu}M$). In the human embryos, the metaphase chromosomes of blastomeres were obtained in 44 of 113 blastomeres (38.9%) by treatment of the mixture of vinblastine and nocodazole. FISH signals of the metaphase chromosomes were successfully observed in human individual blastomeres. Conclusions: The treatment of a mixture MTDAs for obtaining metaphase chromosomes was an efficient method, and the MA rate was above 90% in the mouse embryos. However, only a relatively small proportions of the blastomeres yielded metaphase chromosomes by the MTDAs in the human embryos. The inconsistent effects of MTDAs may be related to the variation of different species and the poor developmental potency of abnormally fertilized human embryos. We should develop more reliable and efficient methods for obtaining the metaphase chromosomes in the biopsied blastomeres of human preimplantation embryos.

Biofilm Differentiation and Dispersal

  • Kjelleberg, Staffan;Barraud, Nicolas;Egan, Suhelen;Ho, Wing Ka;Huynh, Trieu Tran;Klebensberger, Janosch;Koh, Kai Shyang;Lucas-Elio, Patricia;Mai-Prochnow, Anne;Marshall, Dustin J.;Matz, Carsten;McDougald, Diane;Rice, Scott A.;Sanchez-Amat, Antonio;Schleheck, David;Shahbazi, Jeyran;Steinberg, Peter D.;Tan, Chuan Hao;Thomas, Torsten;Webb, Jermy S.;Woo, Jerry K.K.
    • Proceedings of the Microbiological Society of Korea Conference
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    • 2008.05a
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    • pp.42-44
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    • 2008
  • Bacterial biofilms are analogous to multi-cellular organisms or to clonal communities of higher organisms. In this respect, it can be demonstrated that biofilms display the type of genetic variation associated with macroorganisms. The formation of genetic variants from biofilms is the result of internally produced and regulated signals and the appearance of these variants coincides with dispersal from the biofilm. Moreover, the generation of such variation, has similar outcomes for the bacterial community, where diversification of phenotypic traits ensures that the bacterial community optimizes its chances of success when dispersing or surviving when challenged with environmental stress. These observations increase the complexity with which we view bacteria and also suggest that microbial systems can serve as models for the testing of eukaryotic ecological theories.

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Analysis of Evolutionary Content in High School Biology Textbook (고등학교 생물 교과서에서의 진화내용분석)

  • Kim, Hak-Hyun;Chang, Nam-Kee
    • Journal of The Korean Association For Science Education
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    • v.23 no.5
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    • pp.470-483
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    • 2003
  • This study analyzed the evolutionary content in 13 textbooks developed from the first to the 6th high school biology curriculum, The content analysis of textbooks, which were delineated nine component, was performed on the 80 evolutionary categories, According to the result, the proportion of the total evolutionary content in textbook increased from the textbooks developed by the Ist curriculum to the textbooks developed by the 6th curriculum, but the proportion of 'main narrative' in total evolutionary content was gradually decreased. It also showed that biology curriculum and points of view of textbook writers influenced on the proportion of evolutionary contents. On the whole, the topics of analysed textbooks exhibit insufficient diversity, Any categories- 'group selection', 'gene selection', 'gaps in fossil record', 'co-evolution', 'punctuated equilibrium', 'mosaic evolution', 'place of labor in human evolution', 'human race differentiation', 'criticism of "ontogeny recapitulates phylogeny", and 'human activities affecting evolution' - were not treated and others - 'theory of neutralism', 'theories of major episodes(excepting extinctions) found in the geologic time scale', 'sympatric speciation', 'clinal and area-effect speciation', 'polyploidy and evolution', 'gradualism' and 'evolution and origin of mammals' - were treated very lightly, the most emphasized topic was 'phylogeny in general' and 'formation of precells', 'miscellaneous' in the order of emphasis. 'Theory of natural selection' was lightly treated as just one of evolutionary theory though it should be emphasized as major theme of evolution. Also, the law of recapitulation, of which biologists doubt the validity, was discussed as an evidence of evolution in some textbooks. And the agents of genetic equilibrium disruption like genetic drift and migration were treated as of little importance. On the basis of above result, it was suggested that the textbook writers introduced the more meaningful evolutionary topics focused the theory of natural selection in explanation of evolution and evolution theory.

Development of In Vitro Culture System for Male Germline Stem Cells in Porcine (돼지 웅성 생식선 줄기세포의 체외배양기법 개발)

  • Kim, Yong-Hee;Kim, Byung-Gak;Lee, Yong-An;Kim, Bang-Jin;Kim, Ki-Jung;Lee, Myeung-Sik;Im, Gi-Sun;Ryu, Buom-Yong
    • Reproductive and Developmental Biology
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    • v.33 no.3
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    • pp.171-177
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    • 2009
  • Spermatogonial stem cells(SSCs) only are responsible for the generation of progeny and for the transmission of genetic information to the next generation in male. Other in vitro studies have cultured SSCs for proliferation, differentiation, and genetic modification in mouse and rat. Currently, information regarding in vitro culture of porcine Germline Stem Cell(GSC) such as gonocyte or SSC is limited and is in need of further studies. Therefore, in this study, we report development of a successful culture system for gonocytes of neonatal porcine testes. Testis cells were extracted from $10{\sim}14$-day-old pigs. These cells were harvested using enzymatic digestion, and the harvested cells were purified with combination of percoll, laminin, and gelatin selection techniques. The most effective culture system of porcine gonocytes was established through trial experiments which made a comparison between different feeder cells, medium, serum concentrations, temperatures, and $O_2$ tensions. Taken together, the optimal condition was established using C166 or Mouse Embryonic Fibroblast(MEF) feeder cell, Rat Serum Free Medium(RSFM), 0% serum concentration, $37^{\circ}C$ temperature, and $O_2$ 20% tension. Although we discovered the optimal culture condition for proliferation of porcine gonocytes, the gonocyte colonies ceased to expand after one month. These results suggest inadequate acquirement of ingredients essential for long term culture of porcine GSCs. Consequently, further study should be conducted to establish a successful long-term culture system for porcine GSCs by introducing various growth factors or nutrients.

The effects of temperature on the growth rate and nitrogen content of invasive Gracilaria vermiculophylla and native Gracilaria tikvahiae from Long Island Sound, USA

  • Gorman, Leah;Kraemer, George P.;Yarish, Charles;Boo, Sung Min;Kim, Jang K.
    • ALGAE
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    • v.32 no.1
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    • pp.57-66
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    • 2017
  • The red alga Gracilaria vermiculophylla, a species native to the waters of Korea and Japan, has invaded marine coastal areas of Europe and the Americas, thriving in conditions that differ from those of its native habitat. In recent years, G. vermiculophylla has been discovered in the Long Island Sound (LIS) estuary growing alongside the native congener Gracilaria tikvahiae. The goal of this study was to determine whether the two strains of G. vermiculophylla from different regions of the world have evolved genetic differences (i.e., ecotypic differentiation) or if the physiological performance of the strains simply reflects phenotypic plasticity. Two strains of G. vermiculophylla (isolated in Korea and LIS) and a strain of the LIS native G. tikvahiae were grown for four weeks under temperatures ranging from 20 to $34^{\circ}C$ using a temperature gradient table (all other environmental conditions were kept constant). At the end of each week, wet weight of each sample was recorded, and thalli were reduced to the original stocking density of $1gL^{-1}$ (excess biomass was preserved for tissue carbon and nitrogen analysis). Generally, the growth rates of Korean G. vermiculophylla > LIS G. vermiculophylla > G. tikvahiae. After one week of growth G. tikvahiae grew 9.1, 12.0, 9.4, and 0.2% $d^{-1}$, at temperatures of 20, 24, 29, and $34^{\circ}C$, respectively, while G. vermiculophylla (LIS) grew 6.6, 6.2, 5.7, and 3.6% $d^{-1}$. G. vermiculophylla (Korea) grew 15.4, 22.9, 23.2, and 10.1% $d^{-1}$, much higher than the two strains currently inhabiting the LIS. On average, the LIS G. vermiculophylla strain contained 4-5% DW N, while the Korean strain and G. tikvahiae had more modest levels of 2-3% N DW. However, tissue N content declined as temperature increased in LIS and Korean G. vermiculophylla. The non-native haplotype may have evolved genetic differences resulting in lower growth capacity while concentrating significantly more nitrogen, giving the non-native a competitive advantage.

A reappraisal of Sambucus pendula Nakai on Ulleung Island and its allies (울릉도 말오줌나무와 근연종의 재검토)

  • Lim, Hyo-In;Chang, Kae Sun;Lee, Heung Soo;Chang, Chin-Sung;Kim, Hui
    • Korean Journal of Plant Taxonomy
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    • v.39 no.3
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    • pp.181-192
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    • 2009
  • Sambucus pendula Nakai, which is an endemic on Ulleung Island of Korea, is characterized by a large pendulous inflorescence and small fruit. A set of 256 individuals were used to investigate the patterns of intraspecific variation of S. racemosa subsp. kamtchatica, S. racemosa subsp. sieboldiana, and S. williamsii including S. pendula using PCA (principal components analysis). This analysis showed that S. pendula was distinct based on its large inflorescence and long peduncle. Our data showed a morphological distinction between subsp. kamtchatica from northeastern areas and subsp. sieboldiana from Jeju Island, but the two taxa overlap in the southern and eastern parts of Korea in terms of chromosome number, color of style, and allozyme data. Our study agrees that S. pendula on Ulleung Island may be the result of genetic drift that occurred during isolation since the Quarternary period. This has been suggested as a reason for the genetic differences observed between two taxa and would explain the unique variation patterns of S. pendula. However, the morphological differentiation between the S. racemosa complex and S. pendula is not considered sufficient to warrant recognition of specific status. Therefore, we recommend that only one polymorphic species of S. racemosa in Eurasia be recognized and that S. pendula be considered a subspecies of S. racemosa.

Erythropoietin-producing Human Hepatocellular Carcinoma Receptor B1 Polymorphisms are Associated with HBV-infected Chronic Liver Disease and Hepatocellular Carcinoma in a Korean Population

  • Kim, Kyoung-Yeon;Lee, Seung-Ku;Kim, Min-Ho;Cheong, Jae-Youn;Cho, Sung-Won;Yang, Kap-Seok;Kwack, Kyu-Bum
    • Genomics & Informatics
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    • v.6 no.4
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    • pp.192-201
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    • 2008
  • Erythropoietin-producing human hepatocellular carcinoma receptor B1 (EPHB1) is a member of the Eph family of receptor tyrosine kinases that mediate vascular system development. Eph receptor overexpression has been observed in various cancers and is related to the malignant transformation, metastasis, and differentiation of cancers, including hepatocellular carcinoma (HCC). Eph receptors regulate cell migration and attachment to the extracellular matrix by modulating integrin activity. EphrinB1, the ligand of EPHB1, has been shown to regulate HCC carcinogenesis. Here, we sought to determine whether EPHB1 polymorphisms are associated with hepatitis B virus (HBV)-infected liver diseases, including chronic liver disease (CLD) and HCC. We genotyped 26 EPHB1 single nucleotide polymorphisms (SNPs) in 399 Korean CLD, HCC, and LD (CLD+HCC) cases and seroconverted controls (HBV clearance, CLE) using the GoldenGate assay. Two SNPs (rs6793828 and rs11717042) and 1 haplotype that were composed of these SNPs were associated with an increased risk for CLD, HCC, and LD (CLD+HCC) compared with CLE. Haplotypes that could be associated with HBV-infected liver diseases by affecting downstream signaling were located in the Eph tyrosine kinase domain of EPHB1. Therefore, we suggest that EPHB1 SNPs, haplotypes, and diplotypes may be genetic markers for the progression of HBV-associated acute hepatitis to CLD and HCC.

Molecular phylogenetic relationships within the PSP producing marine dinoflagellate, genus Alexandrium

  • Kim, Choong-jae;Kim, Sook-Yang;Kim, Kui-Young;Kang, Young-Sil;Kim, Hak-Gyoon;Kim, Chang-Hoon
    • Proceedings of the Korean Aquaculture Society Conference
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    • 2003.10a
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    • pp.136-137
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    • 2003
  • The marine dinoflagellate genus Alexandrium has been recognized as the most representative toxic phytoplankton on account of production of paralytic shellfish poisoning (PSP) throughout the world. PSP producers, generally A, tamarense and A. catenella, within the genus Alexandrium have caused high level intoxicauon of fisheries products and even death of human. In addition, more recent increasing of geographical range of this deleterious species has given rise to alarming tension. The study presented here aimed construction of the molecular phylogenetic relationships through sequences-determination from 16 morphotypic species (containing newly sequenced 3 morphotypic species, A. tamiyavainchii, A. fraterculus and A. pseudogonyaulax) in LSU rDNA D1-D2 and 12 morphotypic species (containing newly sequenced 6 - morphotypic species, A. catenella, A. tamiyavanichii, A. fraterculus, A. affine, A. insuetum and A. pseudogonyaulax) in SSU rDNA region, and the sequences were subjected to comparative-analysis in respect to regional population using functionally expressed rDNA genus and pseudogenes. And we discussed on genetic differentiation between A. tamarense and A. catenella together with putative PSP divegence of the genus Alexandrium. The results of phylogenetic analysis showed the robust monophyletic 14 distinct classes of A. tamarense, A. excavatum, A. catenella, Tasmanian A. tamarense, A. affine (and/or A. concavum), Thai A. tamarense, A. tamiyavanichii, A. fraterculus, A. margalefii, A. andersonii, A. ostenfeldii, A. minutum (and/or A. lusitanicum), A. insuetum, and A, pseudogonyaulx clade. A. fraterculus and A. tamiyavanichii were sister relationship and they were positioned independently between A, affine cluster and those of A. margalefi, A. andersonii, A. ostenfeldii, A. minutum and A. insuetum. A. pseudogonyaulax appeared to be an ancestral taxon among Alexandrium.

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Limb-girdle Muscular Dystrophy (지대형 근이양증)

  • Kim, Dae-Seong
    • Annals of Clinical Neurophysiology
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    • v.6 no.2
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    • pp.65-74
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    • 2004
  • Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of inherited muscle disorders caused by the mutations of different genes encoding muscle proteins. In the past, when the molecular diagnostic techniques were not available, the subtypes of muscular dystrophies were classified by the pattern of muscle weakness and the mode of inheritance, and LGMD had been considered as a 'waste basket' of muscular dystrophy because many unrelated heterogeneous cases with 'limb-girdle' weakness were put into the category of LGMD. With the advent of molecular genetics at the end of the last century, it has been known that there are many subtypes of LGMD caused by the mutation of different genes, and now, LGMD is classified according to the results of the linkage analysis and the genes or proteins affected. Only small proportion (probably less than 10%) of LGMD is dominantly inherited, and autosomal dominant LGMD (AD-LGMD) consists of six subtypes (LGMD1A to 1F) so far. In autosomal recessive LGMD (AR-LGMD), more than 10 subtypes (LGMD2A to 2J) have been linked and most of the causative genes have been identified. Among AR-LGMDs, LGMD2A (calpain 3 deficiency), 2B (dysferlin deficiency), and sarcoglycanopathy (LGMD2C-2F) are major subtypes. The defective proteins in LGMDs are components of nuclear envelope, cytosol, sarcomere, or sarcolemma, and seem to play a different role in the pathogenesis of muscular dystrophy. It is notable that many causative genes of LGMDs are also responsible for other categories of muscular dystrophy or diseases affecting other tissue. However, by which mechanism they produce such a broad phenotypic variability is still unknown. The identification of mutation in the relevant gene is confirmative for the diagnosis, and is essential for genetic counseling and antenatal diagnosis of LGMD. Because many different genes are responsible for LGMD, differentiation of subtypes using immunohistochemistry and western blotting is the essential step toward the detection of mutation. For the effective research and medical care of the patients with muscular dystrophy in Korea, a research center with a medical facility supported by the government seems to be needed.

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