• Journal of Genetic Medicine
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• v.6 no.1
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• pp.81-86
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• 2009

Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous chondroplasia, characterized by delayed development of the ossification centers and, deformities of the extremities that involve only the epiphysis and result in mild short stature. Mutations in the cartilage oligomeric matrix protein (COMP) gene are most commonly found, and most of the mutations are located in the calmodulin-like repeats and the C-terminal domain. We report a Korean kindred of 12 family members with MED in four generations who were found to have a novel mutation in the COMP gene. A pedigree showed early onset osteoarthritis requiring arthroplasty that was an autosomal dominant inherited trait. Radiological examinations demonstrated the presence of osteochondral defects in the medial femoral condyles, and the knee and hip joints showed variable degrees of precocious degenerative changes. Mutation analysis of the COMP gene in the proband and five other affected family members identified a novel missense mutation, c.1280G>C (p.Gly427Ala) in exon 12, which was not found in three unaffected family members. Direct sequencing of the COMP gene may yield pathogenic mutations in dominantly inherited MED cases, and may provide opportunities of carrier detection among high-risk family members, leading to genetic counseling for early diagnosis and intervention before the onset of complications.

• Pediatric Infection and Vaccine
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• v.16 no.2
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• pp.199-204
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• 2009

Purpose : Various proteins encoded in the early region 3 (E3) of adenoviruses protect cells from being killed by cytotoxic T cells and death-inducing cytokines. We sought to find out whether the genetic heterogeneity of the E3 gene might contribute to the molecular diversity of adenoviruses. Methods : Sequences in the E3 region were analyzed for 14 adenovirus type 3 (Ad3) strains that were isolated from children with lower respiratory tract infections in the Seoul National University Children's Hospital during the period 1991-2000. Full-length adenoviral DNA was purified from the infected A549 cell lysates using a modified Hirt procedure. Results : There was 98% homology between 14 Korean Ad3 strains with a reference strain (M15952). Homology within the Korean Ad3 strains was 98.7%. Variation was found in the region of transcripts 20.1 kDa, 20.6 kDa, truncated 7.7 kDa, 10.3 kDa, 14.9 kDa, and 15.3 kDa. In particular, all 14 Korean strains showed a missense single point mutation at the start codon of the truncated 7.7 kDa. In addition, a deletion was found in the truncated 7.7 kDa region by 58 base pairs in 10 strains and 94 base pairs in 4 strains. Variations in amino acids were observed in the receptor internalization and degradation complex (10.3 kDa/14.9 kDa) which stimulates the clearance from the cell surface and subsequent degradation of the receptors for the Fas ligand and TRAIL, while no variations were observed in another immunoregulatory transcript, 19 kDa. Conclusion : Sequence analysis of the immunoregulatory region of adenovirus E3 shows that genetic heterogeneities are related to genome type patterns.

• Journal of Life Science
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• v.24 no.7
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• pp.707-712
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• 2014

We evaluated the phenetic relationships within six taxa of genus Oxalis L. in Korea with random amplified polymorphic DNA (RAPD) markers. Ten primers produced 125 bands for six taxa, and the mean number of bands per primer was 12.5. Across the six taxa, 121 (96.8%) bands were polymorphic, and only four were monomorphic. The mean number of RAPD phenotypes across the six taxa varied from 3.6 (O. stricta and O. corymbosa) to 4.8 (O. corniculata for. rubrifolia). In a simple measure of intraspecies variability according to the percentage of polymorphic bands, O. stricta and O. corymbosa exhibited the lowest variation (28.8%), and O. corniculata for. rubrifolia showed the highest (38.4%). A mean of 32.7% of the loci was polymorphic within taxa. The total interspecies genetic diversity ($H_T$) and intraspecies genetic diversity ($H_S$) was 0.362 and 0.122, respectively. On a per-locus basis, the proportion of total genetic variation due to differences among species ($G_{ST}$) was 0.663. This indicates that about 66.3% of the total variation was among species. The node of O. stricta and O. corniculata for. rubrifolia was strongly supported, with a high bootstrap value in the NJ tree and sistered with O. corniculata. According to RAPD analysis, the number of chromosomes was not congruent with a phenetic relationship.

• Korean Journal of Ichthyology
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• v.21 no.2
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• pp.67-75
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• 2009

Morphological and genetic variation of Cottus populations in Korea were compared to each other in the watershed. Morphological variation was analyzed by meristic and morphometric characters, and by fertilized egg sizes. Genetic variation was assessed by amplified fragment length polymorphism (AFLP) fingerprinting. Cottus koreanus populations of rivers and streams running towards the eastern coasts of the Korean Peninsula were significantly different in morphometric characters from populations in rivers and streams running towards the western and southern coasts of the Korean Peninsula, but did not differ in meristric characters and fertilized egg sizes. Cottus populations in the upper streams-Yangyangnamadae Stream, Jusu Stream and Samcheogosip Stream-were the same in meristic and genetic characters. However, the Cottus sp. population from Baebong Stream is related to C. hangiongensis in meristic characteristics and to C. koreanus in the morphometric characteristics of length of the ventral fin ray and in the fertilized egg size. Pairwise genetic distances assessed by the AFLP method among C. koreanus populations were in the range of 0.110 to 0.221. Genetic distances between C. hangiongensis and C. koreanus populations varied from 0.542 to 0.621, and those between the Cottus sp. population of Baebong Stream and C. koreanus populations from 0.222 to 0.304. The result of the UPGMA dendrogram shows the Cottus sp. population of Baebong Stream was clearly separated of other C. koreanus populations.

• Weed & Turfgrass Science
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• v.2 no.2
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• pp.184-190
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• 2013

It is important for genetic resources to collect and identify in native medium-leaf type zoysiagrasses species distributed in Korea. This study was conducted to investigate morphological variation and characteristics of native medium-leaf type zoysiagrasses from coastal, island and inland regions in Korea. Among them, 75 collected lines was confirmed to have various morphological variations, accessions were classified into 2 main based group coastal and inland regions by morphological characteristics and site environment. Group I included Z. sinica type, this group showed 3.7 mm in leaf width, 29 in number of seed per spikelet and 5.0 mm in seed length. Group II included Z. japonica type, this group showed 4.4 mm in leaf width, 42 in number of seed per spikelet and 3.5 mm in seed length. There is a need for additional research on growth characteristics and the molecular level for the introgressive hybridization between species which confirmed that cross-pollination is possible due to protogyny. The individuals showing variations should be preserved as valuable genetic resources for the expansion of variations in zoysiagrasses, and the results of this investigation on the genetic resources collected will be highly valuable in breeding high quality turfgrass.

• Current Research on Agriculture and Life Sciences
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• v.13
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• pp.45-53
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• 1995

This research was conducted to investigate morphological and genetic variation of Allium victorialis val. platyphyllum which growed wild in Mt. Hambaek, Mt. Odae, and Ullungdo. The tree layer of Allium victorialis var. platyphyllum community in Mt. Hambaek and Mt. Odae was dominated by Quercus mongolica. The tree layer of Ullungdo generally consist of Fagus crenata var. multinervis, Acer triflorum, Sorbus commixta, and Tilia insularis. In the herb layer, Rumohra standishii, Trillium tschonoskii, and Lilium hansonii are common at Allium victorialis var. platyphyllum community in Ullungdo. The vegetation in Ullungdo was widely different from those in Mt. Hambaek and Mt. Odae by species composition. The result of Principal Component Analysis(PCA) and Canonical Discriminent Analysis of by the 8 characters showed that Allium victorialis var. platyphyllum could be classified into 2 groups: (one ; Mt. Hambaek and Mt. Odae, the other ; Ullungdo). In PCA, the major factors in the first principal component group was angle of leaf apex. Variation of band by isozyme GOT(glautamate oxaloaccetate transaminase) is similar between Mt. Hambaek and Mt. Odae. However, Ullungdo differed from Mt. Hambaek and Mt. Odae in variation of bands.

• Korean Journal of Plant Taxonomy
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• v.37 no.2
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• pp.115-129
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• 2007

Using internal transcribed spacer (ITS) sequences and inter-simple sequence repeats (ISSRs) data, genetic diversity of a rare species, Hibiscus hamabo Siebold & Zucc. was examined for 3 populations in Jeju Island, Korea. A total of 14 nucleotide (excluding 3 ambiguous nucleotide) site variation in the ITS was observed from 18 individuals (Population 1, Hadori), which differed up to 13 bp in pair-wise comparison. On the contrary, the ITS sequences of all individuals in Populations 2 and 3 were identical. Genetic diversity estimates including Nei's gene diversity (h) generated by ISSR data were substantially high in Population 1 compared to other two populations. Low genetic variation in Populations 1 and 2 is considered due to genetic drift (bottleneck effect) and limited gene flow in these populations. Considering the differences in genetic diversity, protection of the Population 1(Hadori) is very critical for in situ conservation of Hibiscus hamabo in Korea. If ex situ conservation is required, making the full use of Population 1 will be most efficient.

• Journal of Life Science
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• v.21 no.10
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• pp.1434-1442
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• 2011

A genetic variation within 29 strains of F. velutipes was analyzed by internal transcribed spacer (ITS) sequence analysis and random amplified polymorphic DNA (RAPD). Seven hundred and twenty base pairs were sequenced during the analysis of the ITS region, but no significant variation was observed among the 29 strains of F. velutipes. Sixteen out of 40 random primers amplified polymorphic RAPD fragment patterns. The polymorphic levels of RAPD bands by some primers (OPA-2,4,3,9,10,20) were very high in all 29 strains, with 3,030 fragments ranging between 200 and 2,000 bp. Intraspecific genetic dissimilarity of the 29 strains was calculated to range from 3.3% to 45% by Nei-Li's method using these 3,030 RAPD bands. The genetic variation among Korean strains was relatively high, with dissimilarities ranging between 17% and 38.6%. In the Neighbor-Joining analysis using the genetic dissimilarities based on RAPD, all 29 strains were classified into 5 clusters. Strains in each cluster showed specific characteristics according to their origin and strains. These results suggested that OPA and OPB primers could be used for developing molecular genetic markers and screening of unidentified (F. velutipes) strains.

• Korean Journal of Plant Resources
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• v.26 no.5
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• pp.613-618
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• 2013

This study was conducted to investigate the morphological characteristics of leaf and the genetic diversity of Berchemia racemosa var. magna which is only found in Anmyeon Island of South Korea. ANOVA test showed that there were significant differences among individuals within population in all 10 leaf characteristics. Average characteristics of 39 individuals were 11.8 cm in leaf length, 7.1 cm in leaf width, 1.67 in leaf index, 5.4 cm in upper 1/3 width, 6.2 cm in lower 1/3 width, 3.6 cm in petiole length, 0.19 mm in leaf thickness, 11.5 ea. in number of veins (left), 11.4 ea. in number of veins (right) and 61.7 $cm^2$ in leaf area, respectively. Except for leaf thickness (18.8%), petiole length (21.7%) and leaf area (22.0%), the coefficients of variation of most leaf characteristics were relatively low (<15.0%). A total of 50 bands was generated from 8 selected I-SSR primers. The estimates of genetic variation were 1.719 in effective number of alleles ($A_e$), 26.0% in proportion of polymorphic bands (P), 0.410 in expected heterozygosity ($H_e$) and 0.598 in Shannon's diversity index (S.I.), respectively. In spite of the small number and the limited distribution, the B. racemosa var. magna population in Anmyeon Island showed high genetic diversity.

• Korean Journal of Plant Taxonomy
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• v.47 no.4
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• pp.297-303
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• 2017

In central and southern Korea, the two small insectivorous, terrestrial herbs, Utricularia bifida and U. caerulea, often co-occur at wet locations (or in wetlands). The Korean Peninsula (with central China and northern Japan) constitutes the northern edge of their distribution, as their main range is subtropical and tropical Asia. The Korean populations of both species are very likely of post-glacial origin, given that warm-temperate vegetation was absent from the Korean Peninsula during the Last Glacial Maximum. Two hypotheses of the post-glacial colonization of the peninsula can be formulated; first, if current populations were founded by propagules coming from a single ancestral population (i.e., a single refugium), we would expect low levels of genetic diversity. Alternatively, if contemporary Korean populations originated from multiple sources (multiple refugia), we would expect high levels of genetic variation. To test which is more likely, we surveyed the degree of allozyme variation at 20 loci in ten populations for each of the two species from southern Korea. We found no allozyme variation within each species. However, their aquatic congener U. australis exhibited allozyme polymorphism across Japan (four polymorphic loci at three enzyme systems). We suggest that southern Korean populations of Utricularia bifida and U. caerulea were established by a single introduction event from a genetically depauperate ancestral population.