• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.4 no.2
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• pp.213-217
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• 2001

Purpose: Glycogen storage disease type Ia (GSD Ia) is an autosomal recessive disorder of glycogen metabolism caused by glucose-6-phosphatase (G6Pase) deficiency. The clinical manifestations of G6Pase deficiency include growth retardation, hepatomegaly, hypoglycemia, lactic acidemia, hyperlipidemia and hyperuricemia. Many mutations of this gene have been found worldwide in various ethnic groups, establishing the molecular basis of GSD Ia. To elucidate a spectrum of the G6Pase gene mutations in Korean, we analyzed mutations in Korean patients with GSD Ia. Methods: Both alleles of 9 unrelated GSD 1a patients were studied by PCR and direct DNA sequencing methods. In all patients, GSD 1a was diagnosed by the enzyme assay for the liver biopsy specimen. Results: In Korean, the most prevalent mutation was g727t substitution in exon 5, which has been reported to cause abnormal mRNA splicing: Sixteen out of 18 alleles were found to have this mutation. In addition, we identified one novel mutation, a c611g, converting a proline to an alanine at codon 178. Conclusion: Our findings suggest that a screening for the g727t mutation by noninvasive molecular method can detect most cases of GSD Ia in Korean patients.

• Korean Journal of Microbiology
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• v.31 no.4
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• pp.286-291
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• 1993

The $Km^{r}$ gene and plasmid of natural isolate and genetically modified microorganisms (GMM) rearranged by conjugation in water environments were comparatively analyzed by agarose gel electrophoresis and Southern analysis. The transfer rates of the $Km^{r}$ gene from GMM strains were generally 100 times higher than thosc of natural iso]ate(DKI) under laboratory cnvironments, but their transfer rate was not much different in Moosimcheon River water. The conjugants obtained in LB(Luria-Bertani broth) and FW(filtered river water) water under laboratory conditions showed same number of the plasmids. but the sizes of the plasmids were changed. The $Km^{r}$ gene in the conjugants was found in the same position as the pDKJO] $Km^{r}$ plasmid. In case of the GMM strains as donor. the large plasmids of 180 kb appeared in conjugants obtained in LB and FW water. Especially, the $Km^{r}$ gene in the donor of DKC600 was found to be inserted into chromosome of the conjugant obtained in FW water. However. in the conjugants obtained from DKl and DKB 701 in Moosimcheon River water, the plasmids were rearranged by 4 and 8. respectively, and all of them showed hybridization by the $Km^{r}$ probe. But the small plasmids of the recipient disappeared in the conjugant from DKC600 as donor, and the rearranged plasm ids and chromosome in the conjugants were observed to be hybridized with the $Km^{r}$ probe. Therefore, rearrangement of $Km^{r}$ gene and plasmids by conjugation was found to be afTected diversely by cellular characteristics as well as by environmental factors.

• Journal of Genetic Medicine
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• v.7 no.2
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• pp.133-137
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• 2010

Purpose: Beckwith-Wiedemann syndrome (BWS) is an overgrowth malformation syndrome caused by a methylation abnormality at chromosome 11p15, consisting of two imprinting centers, BWSIC1 (IGF2, H19) and BWSIC2 (LIT1, KvDMR). This study evaluated the applicability of a methylation-specific (MS) PCR RFLP method for the genetic diagnosis of BWS. Materials and Methods: A total of 12 patients were recruited based on clinical findings. Karyotyping was performed using peripheral blood leukocytes, and genomic DNA was treated with bisulfate and amplified using methylation-specific primers. RFLP was conducted with restriction enzymes in differentially methylated regions of LIT1, H19, and IGF2. Results: The 12 BWS patients had normal karyotypes. Abnormal methylation patterns in the BWSIC2 (LIT1) region were identified in seven patients (58.3%) using the MS-PCR RFLP method. Conclusions: The MS-PCR RFLP method is a simple, economical genetic test. It detected genetic abnormalities in 50-60% of BWS patients, suggesting that it can be used as a screening test. A more precise method is required, however, to enhance the detection rate of genetic abnormalities, especially in BWSIC1 region.

• Journal of Mushroom
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• v.20 no.4
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• pp.208-217
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• 2022

Mushrooms in Naejangsan National Park between May and September of 2021 have been surveyed. In this period, a total of 4 divisions, 9 classes, 25 orders, 72 families, 171 genera, and 381 species, including 3 climate-sensitive biological indicator species were found. The order in which the most diverse array of species was observed is Agaricales, which includes 24 families, 64 genera, and 170 species. Among these, the genus Russula was dominant, with 30 species, followed by the genus Amanita with 27 species. Among the 12 grids we investigated, species diversity was greatest in grid F5, in which 56 species of mushrooms were found. In particular, a large number of ectomycorrhizal mushrooms, including Russula spp. and Lactarius spp. were recognized. We presume that the gentle slopes and the low occurrence of Sasa borealis in this area may create a favorable environment for wild mushrooms. In corroboration, some grids (e.g. F6, F8, and F10) covering steep slopes and harboring large numbers of Sasa borealis contained only 19 species. Based on DNA sequence analysis, the NJ21064 was identified as Chlorophyllum hortense, which is newly recorded in Korea.

• Journal of Life Science
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• v.22 no.4
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• pp.466-471
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• 2012

Sixty individuals of the scallop $Patinopecten$ $yessoensis$ (Genus Pecten) were sampled to examine the genetic diversity and population structure of this species. Random amplified polymorphic DNA (RAPD) identified 109 genotypes and produced 79 polymorphic loci (72.8%). Total genetic diversity values ($H_T$) and interlocus variation in the within-population genetic diversity ($H_S$) were 0.254 and 0.178, respectively. On a per-locus basis, the proportion of total genetic variation due to differences among populations ($G_{ST}$) was 0.299. This indicated that about 70.1% of the total variation was within populations. The unique loci and bands of $P.$ $yessoensis$ were shown in only one population among the three countries. RAPD markers were very effective in classifying the natural population levels of $P.$ $yessoensis$ in Korea, China, and Japan. In addition, insights into the relative gene diversity among and within populations of $P.$ $yessoensis$ would be useful in breeding and for the development of strategies for animal genetic resources.

• The Korean Journal of Applied Statistics
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• v.29 no.6
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• pp.1117-1128
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• 2016

In genetic association studies with high-dimensional genomic data, regularization procedures based on penalized likelihood are often applied to identify genes or genetic regions associated with diseases or traits. A network-based regularization procedure can utilize biological network information (such as genetic pathways and signaling pathways in genetic association studies) with an outstanding selection performance over other regularization procedures such as lasso and elastic-net. However, network-based regularization has a limitation because cannot be applied to high-dimension genomic data with a group structure. In this article, we propose to combine data dimension reduction techniques such as principal component analysis and a partial least square into network-based regularization for the analysis of high-dimensional genomic data with a group structure. The selection performance of the proposed method was evaluated by extensive simulation studies. The proposed method was also applied to real DNA methylation data generated from Illumina Innium HumanMethylation27K BeadChip, where methylation beta values of around 20,000 CpG sites over 12,770 genes were compared between 123 ovarian cancer patients and 152 healthy controls. This analysis was also able to indicate a few cancer-related genes.

• Korean Journal of Plant Taxonomy
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• v.43 no.4
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• pp.252-262
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• 2013

During the floristic survey on Phnom Bokor National Park, Kampot, Cambodia, we encountered Balanophora fungosa var. indica, which is a tropical holoparasitic plant. To identify its host species, we collected host roots and trees nearby and tried to identify them using DNA barcoding approach. We applied plastid rbcL and matK gene regions as DNA barcode markers, and successfully amplified and sequenced the markers from 15 host roots and seven tree samples. Obtained host root sequences were identified as Primulaceae, Celastraceae, Myrtaceae, and Oleaceae, while trees nearby are Oleaceae, Myrtaceae, Sapindaceae, Rosaceae, Clusiaceae, Ericaceae, and Lauraceae. At genus level, host species are identified as Myrsine, Euonymus, Syzygium, and Olea, but failed in species discrimination. Myrsine (Primulaceae) and Olea (Oleaceae) are reported here as host species of B. fungosa var. indica for the first time. Further sampling and comparative work, and DNA barcoding will help recognize the biodiversity of the area and host species of Balanophora, together with their evolution.

• Korean Journal of Plant Tissue Culture
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• v.26 no.2
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• pp.121-126
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• 1999

Calli were induced from the petiole explants of Pimpinella brachycarpa on MS medium supplemented with 0.5 mg/L 2,4-D and 0.1 mg/L BA after four weeks of culture. Compact clusters of small and dense cells among these calli were selected and suspension-cultured as the source of embryogenic calli. When transferred to MS medium with 0.1 mg/L NAA, the suspension-cultured cells grew to embryogenic callus. Somatic embryos derived from these embryogenic calli developed into plantlets. The cDNA library was constructed in the embryogenic callus and in order to screen the cDNA library, these cDNAs were plated at a density 1.5 $\times$ 10^5 plaques per 15 cm petridish. Among 19 clones showing preferential hybridization with petiole HD-Zip gene, five clones were obtained after second screening. Four clones among them, were highly homologous to P. brachycarpa shoot-tip Phz4 gene, but one clone, Phc5 was about 1.5 kb which has an extra 163 bp to 5' upstream of Phz4. The Phc5 was 1,531 bp containing poly A tails of 18 bases. ATG start codon for Phc5, was located at position 284 with an open reading frame of 906 by which encodes a polypeptide of 302 amino acids. The Phc5 protein revealed that the polypeptides between 135 and 195 contain a homeodomain as the `leucine zipper' motif.

• Korean journal of applied entomology
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• v.44 no.3 s.140
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• pp.169-175
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• 2005

The occurrence of tobacco whiteflies, Bemisia tabaci, in greenhouses was monitored in Korea in 2005. Bemisia tabaci occurred in the rose, sweet pepper, tomato, and cucumber greenhouses of Chungbuk, Chungnam, Gyongnam, and Jeonnam Provinces, but not in Jeonbuk and Gyongbuk Provinces. The biotypes and genetic differentiation of the whiteflies collected in each regions were analyzed by mitochondrial 16S DNA sequences. The 16S DNA sequences of Jincheon (Chungbuk Province) samples were similar to DNA data reported from Japan and Israel which were known as the B biotype. However, the DNA sequences of the Buyeo (Chungnam), Geoje (Gyongnam) and Boseong (Jeonnam) collections, which were 100% homologous showed over 99% similarity to the DNA of Q biotype from Spain and Egyrt. Here we report the first founding of the Q biotype in Korea. It is assumed that, unlike the B biotype reported from Jincheon since 1998, the Q biotype might have been introduced recently from the certain foreign region/country to the greenhouses in those provinces.

• Weed & Turfgrass Science
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• v.2 no.2
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• pp.191-197
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• 2013

Two medium-leaf ecotypes (CY6069, CY6097) belonging to one species (Zoysia japonica) of Korean lawngrasses were selected in sod production fields in Jang Seong, Korea. They were reported to have distinct morphological and growth rate characteristics different from the preferred medium-leaf type zoysiagrass in Korea. This study was conducted to define further the genotypic difference at the molecular level and to develop DNA marker based on the specific DNA fragment. Polymorphic DNA fragments were first explored by using randomly amplified polymorphic DNA (RAPD) primers, which were then converted into PCR-based sequence characterized amplified region (SCAR) markers. The CY6069-specific primer set amplified about 550 bp successfully, while the CY6097 marker produced the expected 690 bp band, by which those markers were nominated by CY6069_550 and CY6069_690 SCARs, respectively. Together with the reported morphological and other phenotypic features, the SCAR markers confirmed in this study will be useful to identify those medium-leaf zoysiagrass genotypes when they are cultivated with other vegetatively propagated warm-season turfgrasses in sod farms.