• Title/Summary/Keyword: B-chromosome

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Comparative analysis of Y chromosomal microdeletions in Korean infertile men of 47,XXY and 46,XY karyotypes (47,XXY와 46,XY 핵형을 가진 한국인 불임남성의 Y 염색체의 미세결실에 대한 비교 분석)

  • Huh, Jae-Won;Kim, Woo-Young;Kim, Dae-Soo;Ha, Hong-Seok;Lee, Ja-Rang;Choi, Ook-Hwan;Nam, Ki-Man;Bae, Hwa-Jung;Choi, Jin;Kim, Heui-Soo
    • Journal of Life Science
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    • v.17 no.6 s.86
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    • pp.741-747
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    • 2007
  • In the azoospermic patients, there are many of undiagnosed factors related to genetic bases. Among them, Klinefelter's syndrome (47,XXY; KS) and Y-chromosomal microdeletion with normal karyotype(46,XY; YMNK) are the most frequent causes of male infertility. This research focused on the comparative analysis of YMNK (n = 66) and K5 (n = 30) patients suffered from male infertility in Korean population. We used the polymerase chain reaction (PCR) approach including 19 pairs of sequence-tagged site (STS) primers for detecting the Y-chromosomal microdeletion on AZFa, b, c regions, indicating that Y chromosomal microdeletions were almost evenly occurred in AZF all regions in Korean population. Comparative analysis indicated that 34.9% YMNK and 73.4% KS patients harbored the microdeleted Y-chromosome. It seems to be high instability of Y-chromosome in KS patients than that of YMNK infertility patients. Taken together, genome instability containing microdeletion could bring male infertility with the disturbance of normal spermatogenesis.

Detection of Mendelian and Parent-of-origin Quantitative Trait Loci for Meat Quality in a Cross between Korean Native Pig and Landrace

  • Choi, B.H.;Lee, Y.M.;Alam, M.;Lee, J.H.;Kim, T.H.;Kim, K.S.;Kim, J.J.
    • Asian-Australasian Journal of Animal Sciences
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    • v.24 no.12
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    • pp.1644-1650
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    • 2011
  • This study was conducted to detect quantitative trait loci (QTL) affecting meat quality in an $F_2$ reference population of Korean native pig and Landrace crossbreds. The three-generation mapping population was generated with 411 progeny from 38 $F_2$ full-sib families, and 133 genetic markers were used to produce a sex-average map of the 17 autosomes. The data set was analyzed using least squares Mendelian and parent-of-origin interval-mapping models. Lack-of-fit tests between models were used to characterize the QTL for mode of gene expressions. A total of 10 (32) QTL were detected at the 5% genome (chromosome)-wise level for the analyzed traits. Of the 42 QTL detected, 13 QTL were classified as Mendelian, 10 as paternal, 14 as maternal, and 5 as partial expressed QTL, respectively. Among the QTL detected at 5% genome-wise level, four QTL had Mendelian mode of inheritance on SSCs 5, 10, 12, and 13 for cooking loss, drip loss, crude lipid and crude protein, respectively; two QTL maternal inheritance for pH at 24-h and shear force on SSC11; three QTL paternal inheritance for CIE b and Hunter b on SSC9 and for cooking loss on SSC15; and one QTL partial expression for crude ash on SSC13, respectively. Most of the Mendelian QTL (9 of 13) had a dominant mode of gene action, suggesting potential utilization of heterosis for genetic improvement of meat quality within the cross population via marker-assisted selection.

DENTAL MANAGEMENT OF CHILDREN WITH HEMOPHILIA UNDER THE GENERAL ANESTHESIA : A CASE REPORT (혈우병 B 환아의 전신마취 하 치과치료 : 증례보고)

  • Kim, Soo-Kyoung;Park, Jea-Hong;Lee, Keung-Ho;Kim, Kwang-Chul;Choi, Sung-Chul
    • The Journal of Korea Assosiation for Disability and Oral Health
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    • v.4 no.1
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    • pp.7-11
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    • 2008
  • Hemophilia is a group of gender-linkage inherited bleeding disorders that impair the body's ability to control blood clotting or coagulation. This sex-linked disorder is transmitted on the X chromosome. These genetic disorders have lower blood plasma clotting factor level of coagulation factor. Most common form is Hemophilia A and B. Restorative dental care and simple surgery for the hemophiliac patient are quite often neglected for fear of bleeding during procedures. Even dental specialist avoid these patients and make them severe problem patients. On the dental treatment especially, invasive procedure, special considerations of bleeding control are required. Inter-consultation with the hematologist will provide orientation on the best approach to dental treatment, such as the need of replacement therapy, the modification of antifibrinolytic therapy, the application of local hemostatic methods. In this case reports, we successfully treat early childhood caries of patient with hemophilia B under the general anesthesia.

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Screening of Multiple Abiotic Stress-Induced Genes in Italian Ryegrass leaves

  • Lee, Sang-Hoon;Rahman, Md. Atikur;Kim, Kwan-Woo;Lee, Jin-Wook;Ji, Hee Chung;Choi, Gi Jun;Song, Yowook;Lee, Ki-Won
    • Journal of The Korean Society of Grassland and Forage Science
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    • v.38 no.3
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    • pp.190-195
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    • 2018
  • Cold, salt and heat are the most critical factors that restrict full genetic potential, growth and development of crops globally. However, clarification of genes expression and regulation is a fundamental approach to understanding the adaptive response of plants under unfavorable environments. In this study, we applied an annealing control primer (ACP) based on the GeneFishing approach to identify differentially expressed genes (DEGs) in Italian ryegrass (cv. Kowinearly) leaves under cold, salt and heat stresses. Two-week-old seedlings were exposed to cold ($4^{\circ}C$), salt (NaCl 200 mM) and heat ($42^{\circ}C$) treatments for six hours. A total 8 differentially expressed genes were isolated from ryegrass leaves. These genes were sequenced then identified and validated using the National Center for Biotechnology Information (NCBI) database. We identified several promising genes encoding light harvesting chlorophyll a/b binding protein, alpha-glactosidase b, chromosome 3B, elongation factor 1-alpha, FLbaf106f03, Lolium multiflorum plastid, complete genome, translation initiation factor SUI1, and glyceraldehyde-3-phosphate dehydrogenase. These genes were potentially involved in photosynthesis, plant development, protein synthesis and abiotic stress tolerance in plants. However, this study provides new insight regarding molecular information about several genes in response to multiple abiotic stresses. Additionally, these genes may be useful for enhancement of abiotic stress tolerance in fodder crops as well a crop improvement under unfavorable environmental conditions.

Cholera Toxin B Subunit-Porphyromonas gingivalis Fimbrial Antigen Fusion Protein Production in Transgenic Potato

  • Lee, Jin-Yong;Kim, Mi-Young;Jeong, Dong-Keun;Yang, Moon-Sik;Kim, Tae-Geum
    • Journal of Plant Biotechnology
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    • v.36 no.3
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    • pp.268-274
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    • 2009
  • Porphyromonas gingivalis, the gram-negative anaerobic oral bacterium, initiates periodontal disease by binding to saliva-coated oral surface. The cholera toxin B subunit (CTB) genetically linked to FimA1 (1-200 aa) or FimA2 (201-337 aa) of the P. gingivalis fimbrial antigen were introduced into Solanum tuberosum cells by Agrobacterium tumefaciens-mediated transformation method. The integration of CTB-FimA1 or CTB-FimA2 fusion genes were confirmed in the chromosome of transformed leaves by genomic DNA PCR amplification method. Synthesis and assembly of the CTB-FimA fusion proteins into oligomeric structures with pentamer size was detected in transformed tuber extracts by immunoblot analysis. The binding activities of CTB-FimA fusion proteins to intestinal epithelial cell membrane receptors were confirmed by GM1-ganglioside enzyme-linked immunosorbent assay (GM1-ELISA). The ELISA showed that the expression levels of the CTB-FimA1 or CTB-FimA2 fusion proteins were 0.0019, 0.002% of the total soluble protein in transgenic tuber tissues, respectively The synthesis of CTB-FimA monomers and their assembly into biologically active oligomers in transformed potato tuber tissues demonstrates the feasibility of using edible plants for the production of enterocyte targeted fimbrial antigens that could elicit mucosal immune responses.

Molecular Cloning and Expression of Bacillus stearothermophilus $\beta$-D-Xylosidase Gene in E. coli (Bacillus stearothermophilus $\beta$-D-Xylosidase 유전자의 크로닝 및 Escherichia coli에서의 발현)

  • 오세욱;박성수;최용진;박영인
    • Microbiology and Biotechnology Letters
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    • v.20 no.2
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    • pp.136-142
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    • 1992
  • Bacillus stearothemophilus isolated from soil was identified to express multiple extracellular xylanases. Two HindIII restriction fragments of 5.4 and 6.4 kb from B. stearothermophilus genomic DNA were cloned into pBR322 to obtain recombinant plasmids pMG0l and pMG02, respectively, which enabled E. coli HBlOl cells to produce $\beta$-D-xylosidase activity. By subcloning into pUC18 and Southern blotting, the loci of the $\beta$-D-xyiosidase genes were elucidated to be on non-homologous DNA fragments of 2.2 kb from pMGOl(pMG1) and 1.0 kb from pMG02(pMG2), respectively. The two enzymes produced in E. coli cleaved xylobiose, xylotriose, xylotetrose and xylotetrose to produce xylose as a major end product. The gene on pMG1, distinct from that on pMG2 was observed to encode a bifunctional protein that displayed both P-D-xylosidase (EC.3.2.1.37) and a-L-arabinofuranosidase activities (EC.3.2.1.55).

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Studies on the Karyotypes and Comparative DNA Values in Several Korean Cyprinid Fishes (한국산 담수어류(잉어과) 몇종의 핵형과 DNA 상대량에 관한 연구)

  • Kang, Yung-Sun;Park, Eun-Ho
    • The Korean Journal of Zoology
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    • v.16 no.2
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    • pp.97-108
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    • 1973
  • Karyological characteristics and relative DNA values were investigated in four species of the family Cyprinidae of Korean fresh-water. The results obtained were as follows; 1) The two Hemibarus species, H. longirostris and H. labeo, had the aiploid chromosome number of 50. The compliment of former consisted of 7 metacentric, 14 submets- and subtelocentric and 4 telo- or acrocentric pairs, whereas latter had 9, 11 and 5 pairs respectively, Total arm numbers (AN) were 92 and 90. 2) In the case of two species of genus Moroce, M. oxycephalus and M. lagowskii, their diploid number and karyotype showed in identical pattern for each other (2n=50); 6 pairs of metacentrics, 14 pairs of submeta- and subtelocentrics and 5 pairs of telo- or acrocentrics. The AN of both species were 90. 3) Relative DNA values of all species were measured as about 60% that of gold fish. From the above observation, the cytogenetical character was discussed with special concern to the phylogenetic significance.

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A Simple Stereo Matching Algorithm using PBIL and its Alternative (PBIL을 이용한 소형 스테레오 정합 및 대안 알고리즘)

  • Han Kyu-Phil
    • The KIPS Transactions:PartB
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    • v.12B no.4 s.100
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    • pp.429-436
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    • 2005
  • A simple stereo matching algorithm using population-based incremental learning(PBIL) is proposed in this paper to decrease the general problem of genetic algorithms, such as memory consumption and inefficiency of search. PBIL is a variation of genetic algorithms using stochastic search and competitive teaming based on a probability vector. The structure of PBIL is simpler than that of other genetic algorithm families, such as serial and parallel ones, due to the use of a probability vector. The PBIL strategy is simplified and adapted for stereo matching circumstances. Thus, gene pool, chromosome crossover, and gene mutation we removed, while the evolution rule, that fitter chromosomes should have higher survival probabilities, is preserved. As a result, memory space is decreased, matching rules are simplified and computation cost is reduced. In addition, a scheme controlling the distance of neighbors for disparity smoothness is inserted to obtain a wide-area consistency of disparities, like a result of coarse-to-fine matchers. Because of this scheme, the proposed algorithm can produce a stable disparity map with a small fixed-size window. Finally, an alterative version of the proposed algorithm without using probability vector is also presented for simpler set-ups.

Hypocalcemic Tetany in a 10-year Old Boy: A Case of Pseudohypoparathyroidism Type 1b due to Paternal Uniparental Disomy (간헐적 강직을 주소로 내원한 저칼슘혈증 10세 남아: 부계 단친성 이염색체로 인한 가성부갑상샘기능저하증 1b형 증례)

  • Yoo, Byung Min;Kim, Mijin;Ko, Jung Min;Kang, Min Jae
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.20 no.2
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    • pp.44-49
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    • 2020
  • Pseudohypoparathyroidism (PHP) is a disorder characterized by hypocalcemia and hyperphosphatemia due to end organ resistance to parathyroid hormone. PHP is caused by the deficiency of the α-subunit of the stimulatory G protein encoded by the GNAS gene, and this defect arises from genetic or imprinting disturbances. Sporadic PHP 1b shows two or more methylation defects of upstream of GNAS gene and some of them lead to loss of maternal GNAS imprints, therefore, only paternally derived GNAS gene is expressed. Here, we report a 10 year 9 month old boy presented with intermittent tetany who was finally diagnosed with PHP 1b caused by paternal uniparental disomy of chromosome 20q.

Major histocompatibility complex genes exhibit a potential immunological role in mixed Eimeria-infected broiler cecum analyzed using RNA sequencing

  • Minjun Kim;Thisarani Kalhari Ediriweera;Eunjin Cho;Yoonji Chung;Prabuddha Manjula;Myunghwan Yu;John Kariuki Macharia;Seonju Nam;Jun Heon Lee
    • Animal Bioscience
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    • v.37 no.6
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    • pp.993-1000
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    • 2024
  • Objective: This study was conducted to investigate the differential expression of the major histocompatibility complex (MHC) gene region in Eimeria-infected broiler. Methods: We profiled gene expression of Eimeria-infected and uninfected ceca of broilers sampled at 4, 7, and 21 days post-infection (dpi) using RNA sequencing. Differentially expressed genes (DEGs) between two sample groups were identified at each time point. DEGs located on chicken chromosome 16 were used for further analysis. Kyoto encyclopedia of genes and genomes (KEGG) pathway analysis was conducted for the functional annotation of DEGs. Results: Fourteen significant (false discovery rate <0.1) DEGs were identified at 4 and 7 dpi and categorized into three groups: MHC-Y class I genes, MHC-B region genes, and non-MHC genes. In Eimeria-infected broilers, MHC-Y class I genes were upregulated at 4 dpi but downregulated at 7 dpi. This result implies that MHC-Y class I genes initially activated an immune response, which was then suppressed by Eimeria. Of the MHC-B region genes, the DMB1 gene was upregulated, and TAP-related genes significantly implemented antigen processing for MHC class I at 4 dpi, which was supported by KEGG pathway analysis. Conclusion: This study is the first to investigate MHC gene responses to coccidia infection in chickens using RNA sequencing. MHC-B and MHC-Y genes showed their immune responses in reaction to Eimeria infection. These findings are valuable for understanding chicken MHC gene function.