• Proceedings of the Korean Society of Crop Science Conference
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• 2017.06a
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• pp.144-144
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• 2017

Micronutrients such as zinc (Zn), iron (Fe), manganese (Mn) have important roles for development and growth in plants but it also have roles in animals and humans. In previous studies, a Korean weedy rice, KH2J was selected to have tolerance to heavy metal, lead (Pb) compared with a cultivar, Milyang23. To identify QTLs for micronutrients concentration in grain, an F2 population (120 plants) were developed from a cross between KH2J and an indica rice cultivar, Milyang23. To measure the concentration of eight ions, Zn, Fe, Mn, Pb, calcium (Ca), copper (Cu), cadmium (Cd) and arsenic (As), grains were collected and digested with 65% nitric acid, and the ion contents were measured using inductively coupled plasma mass spectrometry. A total 27 putative quantitative trait loci (QTLs) were detected on 12 chromosomes by single point analysis and 22 putative QTLs were detected by composite interval mapping. The co-locations of QTL for Zn, Fe and Mn were observed on chromosome 5. The QTLs for Cd, Cu and Zn were co-localized on chromosome 10, and QTLs for Zn, As and Mn was on chromosome 12. The Zn concentration in F2 generation showed significant correlation with concentrations of As (r = -0.4), Cu (r = 0.5) and Fe (r = 0.2) (P < 0.01). Also, the Ca concentration was significantly related with Mn and Fe concentrations (P < 0.01). Fine mapping of these QTLs is underway to analyze their functional relationship.

• Korean Journal of Medicinal Crop Science
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• v.13 no.1
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• pp.48-51
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• 2005

Karyotype analysis and chromosomal locailization of 45S and 5S rDNAs using McFISH (multi-color fluorescence in situ hybridization) were carried out in Jeffersonia dubia Benth., which is one of medicinal plants belonging to Berberidaceae. The somatic metaphase chromosome number was 2n=2x=12 and the size of chromosomes ranged $1.95{\sim}3.50\;{\mu}m$. The chromosome complement consisted of two pairs of metacentrics (chromosomes 1 and 3), two pairs of submetacentrics (chromosomes 2 and 4) and two pairs of subtelocentrics (chromosomes 5 and 6). In McFISH, one pair of 45S rDNA site was detected on the centromeric region of chromosome 2 and three pairs of 5S rDNA sites were detected on the short arm of chromosomes 4, 5 and 6, respectively.

• Clinical and Experimental Reproductive Medicine
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• v.45 no.1
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• pp.48-51
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• 2018

We report the case of a 46-year-old Chinese male patient who visited our clinic complaining of infertility. Semen analysis revealed azoospermia, and azoospermia factor c region partial deletion (b1/b3) was detected using Y chromosome microdeletion analysis. Testicular sperm extraction was performed after genetic counseling. The bilateral ductus deferens and a portion of the epididymis were absent, whereas the remaining epididymis was expanded. Motile intratesticular spermatozoa were successfully extracted from the seminiferous tubule. On histopathology, nearly complete spermatogenesis was confirmed in almost every seminiferous tubule. To our knowledge, this is the first case report of b1/b3 deletion with a congenital bilateral absence of the vas deferens and almost normal spermatogenesis.

• Journal of Genetic Medicine
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• v.12 no.1
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• pp.57-60
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• 2015

CHARGE syndrome (coloboma, heart defects, atresia choanae, retarded growth and development, genital hypoplasia, and ear abnormalities) is characterized by multiple malformations and is diagnosed using distinct consensus criteria. Mutations in the gene encoding chromodomain helicase DNA-binding protein 7 (CHD7) are the major cause of CHARGE syndrome. Clinical features of CHARGE syndrome considerably overlap those of 22q11.2 deletion syndrome. Of these features, immunodeficiency and hypocalcemia are frequently reported in patients with 22q11.2 deletion syndrome but are rarely reported in patients with CHARGE syndrome. In this report, we have described the case of a patient with typical phenotypes of 22q11.2 deletion syndrome but without the proven chromosome microdeletion. Mutation analysis of CHD7 identified a pathogenic mutation (c.2238+1G>A) in this patient. To our knowledge, this is the first case of CHARGE syndrome with immunodeficiency and hypocalcemia in Korea. Our observations suggest that mutation analysis of CHD7 should be performed for patients showing the typical phenotypes of 22q11.2 deletion syndrome but lacking the proven chromosome microdeletion.

• Journal of Genetic Medicine
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• v.12 no.1
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• pp.49-56
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• 2015

We herein report an analysis of a female baby with a de novo dup(10p)/del(10q) chromosomal aberration. A prenatal cytogenetic analysis was performed owing to abnormal ultrasound findings including a choroid plexus cyst, prominent cisterna magna, and a slightly medially displaced stomach. The fetal karyotype showed additional material attached to the terminal region of chromosome 10q. Parental karyotypes were both normal. At birth, the baby showed hypotonia, upslanting palpebral fissures, a nodular back mass, respiratory distress, neonatal jaundice and a suspicious polycystic kidney. We ascertained that the karyotype of the baby was 46,XX,der(10)($pter{\rightarrow}q26.3::p11.2{\rightarrow}pter$) by cytogenetic and molecular cytogenetic analyses including high resolution GTG-and RBG-banding, fluorescence in situ hybridization, comparative genomic hybridization, and short tandem repeat marker analyses. While almost all reported cases of 10p duplication originated from one of the parents with a pericentric inversion, our case is extraordinarily rare as the de novo dup(10p)/del(10q) presumably originated from a rearrangement at the premeiotic stage of the parental germ cell or from parental germline mosaicism.

• Korean Journal of Plant Taxonomy
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• v.35 no.2
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• pp.99-114
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• 2005

Chromosome number, morphological variation and RAPD analysis were investigated to study on the speciation of Indigofera in Korea. Chromosome numbers of I. kirilowii (2n=16) and I. koreana (2n=32) are consistent with the previous reports. In this study tetraploid (2n=32) and hexaploid (2n=48) of I. grandiflora are newly observed. Indigofera grandiflora is distributed around Mt. Kaya area together with I. kirilowii and I. koreana. The former species has the larger sizes in plant height, leaves and flowers than the latter two and shows intermediate form between the two species in hairs on leaves and flowers which are one of the most important taxonomic characters in this group. In the RAPD analysis, I. grandiflora is similar to I. koreana than I. kirilowii but RAPD band patterns revealed difference between tetra- and hexaploid of the species. These results suggested that Korean endemic species of I. grandiflora (2n=16, 32, 48) might has multiple origin through polyploidization and/or hybridization between I. kirilowii (2n=16) and I. koreana (2n=32) around Mt. Kaya area where the latter two grow together.

• Clinical and Experimental Reproductive Medicine
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• v.32 no.2
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• pp.113-119
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• 2005

Objective: The purposes of this study were to investigate the types and the incidences of chromosomal abnormalities, and to provide an explanation for the genetic causations of recurrent spontaneous abortions in Korean population. Methods: Cytogenetic studies were carried out in 535 couples with at least two spontaneous first trimester abortions from January 1981 to December 2003. For karyotype analysis, we used modified Moorhead method by Giemsa staining and Giemsa-Trypsin-Giemsa banding Results: The overall incidence of chromosome abnormality was 32 out of 535 cases (5.98%). There were 25 cases (4.67%) of translocation and 7 cases (1.31%) of inversion. In translocation, 5 cases (0.93%) of Robertsonian translocation and 20 cases (3.74%) of reciprocal translocation were observed. In inversion, 6 cases (1.12%) of inversion of chromosome 9 and one case (0.19%) of inversion of chromosome 18 were found. Conclusion: In this study, overall chromosomal abnormality rate in couples with recurrent spontaneous abortions is much higher than that in the general population. So, chromosomal analysis should be offered for the prognostic information in genetic counseling such as prenatal diagnosis in couples with repetitive reproductive failure.

• BMB Reports
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• v.42 no.12
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• pp.823-828
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• 2009

Techniques for analyzing protein-DNA interactions on a genome-wide scale have recently established regulatory roles for distal enhancers. However, the large sizes of higher eukaryotic genomes have made identification of these elements difficult. Information regarding sequence conservation, exon annotation and repetitive regions can be used to reduce the size of the search region. However, previously developed resources are inadequate for consolidating such information. CONVIRT is a web resource for the identification of transcription factor binding sites and also features comparative genomics. Genomic information on ortholog-independent conserved regions, exons, repeats and sequences is integrated into the virtual chromosome, and statistically over-represented single or combinations of transcription factor binding sites are sought. CONVIRT provides regulatory network analysis for several organisms with long promoter regions and permits inter-species genome alignments. CONVIRT is freely available at http://biosoft.kaist.ac.kr/convirt.

• Journal of Life Science
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• v.11 no.1
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• pp.34-38
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• 2001

The cDNA encoding ribosomal protein S4(RPS 4) from an ovary cDNA library of the Japanese monkey (Macaca fuscata) was cloned and sequenced. The RPS4X gene from monkey X chromosome encodes a deduced protein of 263 amino acids and share 99.1% cDNA sequence similarity and 100% amino acid sequence identify with the human RPS4X. Rate of synonymous substitution was higher in RPS4Y than in RPS4X in comparison to the monkey and human. The ratio of synonymous and nonsynonymous substitutions per site indicated that directional selection has nor occurred in RPS4 genes. Phylogenetic analysis using the neighbor-joining method revealed that X and Y-linked RPS4 genes have evolved independently.

• Journal of the Korean Data and Information Science Society
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• v.18 no.4
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• pp.1103-1113
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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 BMS941 locus. K -means clustering analysis of eight markers in BMS941 and four traits resulted in three cluster groups. Finally, we applied the bootstrap test method to calculate confidence intervals for finding major DNA markers. We conclude that the major markers of BMS941 locus in Hanwoo chromosome 17 are markers 85bp and 105bp.