• Clinical and Experimental Pediatrics
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• v.51 no.7
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• pp.771-774
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• 2008

Familial hypokalemic periodic paralysis (hypoPP) is a rare inherited channelopathy that often presents with episodic weakness accompanied by hypokalemia. Thus far, mutations in the gene encoding two ion channels (CACNL1A3, L-type calcium channel alpha-1 subunit and SCN4A, a sodium channel type IV alpha subunit) have been identified. Several cases of familial hypoPP in children have been reported in Koreans, but there are only a few cases with identified mutations. We report a 12-year-old boy and his affected mother with hypoPP who has a heterozygous G to A substitution at codon 1239 in exon 30 of the CACNL1A3 gene that causes a change from arginine to histidine (Arg1239His, CACNL1A3). This mutation is common among Caucasians; however, it has not yet been reported in Koreans. The patients were treated with oral acetazolamide and potassium replacement and were instructed to avoid precipitating factors. After the medication and lifestyle modification, the paralytic attacks significantly decreased.

• KOREAN JOURNAL OF CROP SCIENCE
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• v.51 no.3
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• pp.259-268
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• 2006

Miniature inverted transposable elements (MITEs) are abundant genomic components in plant including rice. MITE-transposon display (MITE-TD) is an Amplified Fragment Length Polymorphism (AFLP)-related technique based on MITE sequence. In this study, we used the MITE-AFLP for the analysis of diversity and relation-ship of the 114 japonica accessions. Of the several MITEs, the mPing family was applied to detect polymorphisms based on PCR amplification. The BfaI adaptor primer and the specific primer derived from mPing terminal inverted repeat (TIR) region were used to PCR amplification of 114 accessions. Nine primer pairs produced a total of 160 polymorphic bands. PIC values of the polymorphic bands generated by nine primer pairs ranged from 0.269 (BfaI + ACT) to 0.426 (BfaI + T). Each accession revealed a distinct fingerprint with two primer combinations, BfaI + G and BfaI + C. Cluster analysis using marker-based genetic similarity classified 114 accessions into five groups. MITE-AFLP markers were genetically mapped using a population of 80 BILs (BC1F7) derived from a cross between the rice accessions, Milyang 23 and Hapcheonaengmi 3. Eight of the markers produced with the primer pair BfaI + 0 were mapped on chromosomes 1, 2, 4, 5, 7, and 9. Considering that one MITE-AFLP marker on chromosome 7 was tightly linked to the Rc gene, the MITE-AFLP markers will be useful for gene tagging and molecular cloning.

• KOREAN JOURNAL OF CROP SCIENCE
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• v.37 no.5
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• pp.476-485
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• 1992

M1 plants which were produced from seed soaking in chemical mutagen, EMS or NaN$_3$, appeared wide morphorogical variations such as dwarf, albino, twisted leaf, white streaked leaf, and purpled stem. In mutants of reproductive organs, there were monoecious plants such as female-flower plant and male-flower plant, multiple spikes, and steriled plants among M1 plants. Also, barren stalk was increased significantly in M1 plants. Ear bagging at ear initiation stage prevented seed set on cob in normal plants. In spite of ear bagging, M1 plants which had cobs with seed set was 3.9-11.2% of stalks developed from seeds soaking with mutagens, but only three or four kernels could be matured on a cob. Ear bagging after mutagen injection into initiating ear produced 5.1-10% in cobs with seed set, but only 1.7-6.3 kernels could be matured. Cobs removed silk at four hours after artificial pollination increased the rate of cobs with seed set to 27%. Microscopic observation confirmed that ontogeny of kernels matured from ear bagging and mutagen treatment would be both adventitious and diplosporous apomictic reproduction. Chromosome set of M2 seedling was found to be diploid type in chromosomal counting of root tip. As M$_2$ plants showed an uniform appearence within each lines and their CV of plant height were ranged 4-6% in each lines, we concluded that they were apomictic progeny. But we could not find any marker traits combined with apomixis.

• Clinical and Experimental Pediatrics
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• v.48 no.6
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• pp.669-674
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• 2005

Nephrogenic diabetes insipidus (NDI) is a disorder in which the secretion of antidiuretic hormone is normal, but the response of the renal collecting tubules to vasopressin is impaired. Compared with acquired NDI (a-NDI), which is secondary to chronic bilateral incomplete urinary tract obstruction with hydronephrosis, congenital NDI (c-NDI) is a very rare heritable disorder that usually follows the X- linked recessive pattern. Clinical symptoms of c-NDI can be non specific, and often the disease ultimately results in failure to thrive, or mental retardation. Recently, the diagnosis can be confirmed by direct sequencing analysis of the peripheral blood specimens. The long-term results of treatment for c-NDI are not satisfactory. Reports on the follow up of c-NDI cases are rare and there is no report on the cases treated with combinations of three drugs. We report herein a case of severe c-NDI in an 8 year-old-boy with a severely dysconfigurated urinary tract system. The patient and his mother showed a frameshift mutation on the AVPR2 gene on chromosome Xq28:.847_851delTGCTG (p.C283fsX90). The patient showed normal growth and development by treatment with combinations of hydrochlorothiazide ($65mg/m^2$), amiloride (0.3 mg/kg/d) and indomethacin ($100mg/m^2$), yet after five years he needed adjuvant cystostomy to relieve him from the residual symptoms of urgency with polyuria.

• 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.

• Asian Journal of Turfgrass Science
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• v.25 no.1
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• pp.17-21
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• 2011

Korean bennudagrass collections showed diverse genetic variations in their morphology, growth habit, and cytological aspects. Chromosome number and nuclear DNA content of the bennudagrasses indicated a ploidy level ranging from triploid (2n=3x) to hexaploid (2n=6x). In this study, we investigated the different responses of antioxidant enzymes (superoxide dismutase, catalase, peroxidase, ascorbate peroxidase) and cell membrane stability of those bennudagrass cytotypes to lower temperature and shorter day length, which meets a dormant induction in Korea. All the antioxidant enzymes were found to be higher during dormant stage, while the heme-containing catalase which converts hydrogen peroxide ($H_2O_2$) to water and oxygen molecules was activated before dormant initiation in the three cytotypes except for hexaploid bennudagrass. The triploid and tetraploid which exhibited relatively finer leaves and a rapid establishment speed were found to show increased activities of superoxide dismutase and peroxidase enzyme. The malondialdehyde(MDA) which is a product of lipid peroxidation in the cell membrane damaged by the hydroxyl radical was increased in all cytotypes as temperature declined, and tri- and tetraploids which had more protective antioxidant enzymes demonstrated a significantly lower MDA production. Similarly electrolyte leakage was higher in penta- and hexaploidy, seemingly more damage to cell membrane when low temperature was implemented. Results indicated that antioxidant responses of different cytotypes were genetically specific, which needs to be investigated the relevance with the low temperature tolerance in the bermudagrass further at the molecular level.

• Microbiology and Biotechnology Letters
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• v.14 no.6
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• pp.479-485
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• 1986

A 5200 basepair DNA fragment containing the Bacillus amyloliquefaciens amyE gene, encoding liquefying $\alpha$-amylase (1,4-$\alpha$-1)-glucan glucanohydrolase, EC 3.2.1.1), has been inserted into BamHI site of the pUB110 and the hybrid plasmid was designated as pSKS3. The pSKS3 was transformed into the Bacillus subtilis KM2l3 as a host which is a saccharifying $\alpha$-amylase deficient mutant of Bacillus subtilis NA64, and the plasmid in the transformed cell was expressed $\alpha$-amylase production and kanamycin resistance. The $\alpha$-amylase production of the transformed cell was reduced to one fifth of that of the donor strain. The Bacillus subtilis KM2l3 tarring pSKS3 indicated that the amyE gene product is a polypeptide which has the same electrophoretic mobility with that of the Bacillus amyloliquefaciens, but different from the saccharifying $\alpha$-amylase of Bacillus subtilis NA64. It means that the amyE gene of pSKS3 originales from the Bacillus amyloliquefaciens.

• Clinical and Experimental Pediatrics
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• v.52 no.2
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• pp.242-246
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• 2009

The clinical features of ring chromosome 13 include mental and growth retardation, CNS anomalies, facial dysmorphism, cardiac defects, genital malformations, limb anomalies, skeletal deformities and anal malformations. Although many cases of ring chromosome 13 have been reported worldwide, only 6 cases have been reported in Korea, and the latter cases were not mosaic but pure ring chromosome 13. Here we report a case with mosaic ring chromosome 13. The baby boy was born at 37 weeks of gestation by induced vaginal delivery due to intrauterine growth restriction (IUGR). He was the second baby of a 28-year-old hepatitis B carrier mother and a 32-year-old father. There was no family history of chromosomal anomalies. The baby was a symmetric IUGR with a birth weight of 1,860 g, length of 44.8 cm, and head circumference of 29.4 cm. The physical examination revealed microcephaly, trigonocephaly, flat occiput, large ears, short neck and dysmorphic facial features, including microophthalmia, hypertelorism, antimongoloid slanting palpebral fissures, a flat nasal bridge, and micrognathia. The karyotype of this patient performed by peripheral blood lymphocytes was 46,XY,r(13)(p13q34)/45,XY,-13/46,XY,dic r(13;13)(p13q34;p13q34). The baby showed failure to thrive, hypotonia, and developmental delay. We report the first case of mosaic ring chromosome 13 in a male baby in Korea and compare this case with other Korean cases of non-mosaic ring chromosome 13.

• Microbiology and Biotechnology Letters
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• v.30 no.4
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• pp.312-319
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• 2002

The Sporosarcina psychrophilia pyrB gene, which encodes aspartate transcarbamylase (ATcase), was cloned on Sau3AI restriction endonuclease fragment inserted into pUC19 plasmid vector, S. psychrophilia pyrB gene was expressed in Escherichia coli pyrB mutant for the complementation test. The sequence of 2,606 nucleotides including putative pyrB gene was determined. The region contained one full open reading frame (ORf) and two partial ORFs. The deduced amino acid sequence of the second ORF showed 59% identity with that of Bacillus caldolyticus ATCase. The first and third partial ORFs were closely related to the uracil permease (pyrP) and dihydroorotase (pyrC), respectively. Besides, potential terminator, antiterminator, and anti-antiterminator structures were found in the intergenic region between pyrP and pyrB. These results suggested that S. psychrophilia pyrimidine nucleotide biosynthesis genes are clustered as well as other Bacillus sp. Over-expressed product of pyrB encoding ATCase was purified and analyzed by the SDS-PAGE. The purified PyrB protein turned out to be molecular mass of 27 kDa and showed ATCase activity.

• Korean Journal of Plant Taxonomy
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• v.42 no.1
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• pp.24-39
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• 2012

The palynological study of 31 taxa of Korean Artemisia L. was carried out to evaluate their taxonomic characteristics and to determine the relationships among the taxa. The size and shape of the pollen are not used as characteristics to classify the taxa of Korean Artemisia L., but the granule distribution ands pinule connection on the exine were useful for an interspecific classification and for reflecting the relationship between some taxa. It is considered that Artemisia pollen has evolved from a connected spinule and a nearly psilate surface into 1) a connected spinule and a granule surface, 2) a disconnected spinule and a granule surface, 3) a disconnected spinule and a dense granule surface. These pollen characteristics with external morphological characteristics, a geographical distribution and a somatic chromosome number are considered to be good characteristics for distinguishing the relationship of some taxa, such as the A. japonica group (A. hallaisanensis, A. angustissima, A. littoricola) and the A. sacrorum group (A. sacrorum var. sacrorum, A. sacrorum var. incana, A. sacrorum var. iwayomogi).