• Journal of Life Science
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• v.22 no.12
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• pp.1644-1650
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• 2012

The aim of this study was to screen the polymorphisms and distribution of each genotype of insertion/ deletion (indel) markers which were found in a preliminary comparative study of bovine genomic sequence databases. Comparative bioinformatic analyses were first performed between the nucleotide sequences of Bovine Genome Project and those of expressed sequence tag (EST) database, and a total of fifty-one species of indel markers were screened. Of these, forty-two indel markers were evaluated, and nine informative indel markers were ultimately selected for population analysis. Nucleotide sequences of each marker were re-sequenced and their polymorphic patterns were typed in six cattle breeds: Holstein, Angus, Charolais, Hereford, and two Korean native cattle breeds (Hanwoo and Jeju Black cattle). Cattle breeds tested in this study showed polymorphic patterns in eight indel markers but not in the Indel-15 marker in Charolais and Holstein. The results of analysis for Jeju Black cattle (JBC) population indicated an observed heterozygosity (Ho) that was highest in HW_G1 (0.600) and the lowest in Indel_29 (0.274). The PIC value was the highest in HW_G4 (0.373) and lowest in Indel_6 (0.305). These polymorphic indel markers will be useful in supplying genetic information for parentage tests and traceability and to develop a molecular breeding system for improvement of animal production in cattle breeds as well as in the JBC population.

• Korean Journal of Breeding Science
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• v.42 no.4
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• pp.397-406
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• 2010

Field screening method has been commonly used for purity test of $F_1$ hybrid seeds in melon and oriental melon. However, as this method takes a lot of time and cost, molecular marker-based purity test is necessary. To develop molecular markers for purity test, thirty pairs of SNP (single nucleotide polymorphism) primers were obtained from melon EST sequences, and 10 polymorphic markers showing HRM (high resolution melting) polymorphisms between parents of two melon cultivars and one oriental melon cultivar were selected. Blind tests were performed to validate usefulness of the selected markers for purity test. Blind test results showed that HRM genotypes were matched with the expected identity of individual sample, $F_1$ hybrid, male or female parents. Three HRM-based SNP markers were converted to CAPS markers for general use which is favor to breeders. We expect that SNP markers developed in this study will be useful for purity test of $F_1$ hybrid seeds in melon and oriental melon.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.3
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• pp.99-106
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• 2018

Mucolipidosis type III (pseudo-Hurler polydystrophy) is a mucolipids degrading disorder caused by a mutation in the GNPTAB gene and is inherited by autosomal recessive. It is diagnosed by examining highly concentrated mucolipids in blood and the diagnosis can be confirmed by genetic testing. Mucolipidosis type III is a rare and progressive metabolic disorder. Its initial signs and symptoms usually occur around 3 years of age. Clinical manifestations of the disease include slow growth, joint stiffness, arthralgia, skeletal abnormalities, heart valve abnormalities, recurrent respiratory infection, distinctive facial features, and mild intellectual disability. Here, we are presenting two siblings of mucolipidosis type III, a 4-year-old female and a 2 years and 7 months old male with features of delayed growth and coarse face. The diagnosis was confirmed by [c.2715+1G>A(p.Glu906Leufs*4), c.2544del(p.Glu849Lysfs*22)] mutation in targeted gene panel sequencing. In this case, c.2544del is a heterozygote newly identified mutation in mucolipidosis type III and was not found in the control group including the genome aggregation database. And it is interpreted as a pathogenic variant considering the association with phenotype. Here, we report a Korean mucolipidosis type III patients with novel mutations in GNPTAB gene who have been treated since early childhood. Owing to recent development of molecular genetic techniques, it was possible to make early diagnosis and treatment with pamidronate was initiated appropriately in case 1. In addition to these supportive therapies, efforts must be made to develop fundamental treatment for patients with early diagnosis of mucolipidosis.

• Korean Journal of Plant Taxonomy
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• v.48 no.4
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• pp.249-259
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• 2018

$Iso{\ddot{e}}tes$ L. ($Iso{\ddot{e}}taceae$) is a cosmopolitan genus of heterosporous lycopods containing ca. 200 species being found in lakes, streams, and wetlands of terrestrial habitats. Despite its ancient origin, worldwide distribution, and adaptation to diverse environment, species in $Iso{\ddot{e}}tes$ show remarkable morphological simplicity and convergence. Allopolyploidy appears to be a significant speciation process in the genus. These characteristics have made it difficult to assess the phylogenetic relationships and biogeographic history of $Iso{\ddot{e}}tes$ species. In recent years, these difficulties have somewhat been reduced by employing multiple molecular markers. Here, we reconstruct the phylogenetic relationships in East Asian $Iso{\ddot{e}}tes$ species. We also provide their divergence time and biogeographic origin using a fossil calibrated chronogram. East Asian $Iso{\ddot{e}}tes$ species are divided into two clades: I. asiatica and the remaining species. $Iso{\ddot{e}}tes$ asiatica from Hokkaido forms a clade with northeastern Russian and western North American $Iso{\ddot{e}}tes$ species. In clade I, western North America is the source area for the dispersal of $Iso{\ddot{e}}tes$ to Hokkaido and northeastern Russia via the Bering land bridge during the late Miocene. The remaining $Iso{\ddot{e}}tes$ species (I. sinensis, I. yunguiensis, I. hypsophila, I. orientalis, I. japonica, I. coreana, I. taiwanensis, I. jejuensis, I. hallasanensis) from East Asia form a sister group to Papua New Guinean and Australian species. The biogeographic reconstruction suggests an Australian origin for the East Asian species that arose through long-distance dispersal during the late Oligocene.

• Journal of the Korean Orthopaedic Association
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• v.56 no.6
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• pp.491-497
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• 2021

Purpose: To investigate the prevalence of osteoporosis or osteopenia via dual-energy X-ray absorptiometry bone mineral density (DEXA BMD) in adult males who showed radiolucent lumbar vertebra on the plain radiographs. Materials and Methods: The DEXA BMD values of 98 adult males, who showed radiolucent vertebrae on plain X-rays, were compared with those of the control group (n=168) and osteoporosis-related fracture group (n=113) by statistical analysis. The World Health Organization (WHO) method (lower value between the mean lumbar and femur neck) and the Hansen's method (lowest lumbar vertebra) were used to determine osteoporosis. Results: The mean and standard deviation of the BMD value of each group was -1.4 (±1.2) in the suspicious group, -0.8 (±1.1) in the control group, and -2.4 (±1.0) in the fracture group, respectively; the difference was statistically significant. Using the WHO method, the prevalence ratio of osteoporosis was 17.3% in the suspicious group, 8.3% in the control group, and 45.1% in the fracture group, respectively. Osteopenia was observed in 40.8% of the suspicious group. Hansen's method (lowest lumbar vertebra) revealed the prevalence of osteoporosis in 30.6% of the suspicious group, 17.9% of the control group, and 62.0% of the fracture group. Conclusion: Approximately 17.3% of the suspicious group was diagnosed with osteoporosis, and 40.8% were osteopenic by a confirmative BMD study (WHO criteria) among the adult males showing apparent radiolucency on plain X-rays. The control group also showed an 8% prevalence of osteoporosis. These results suggest that males also are vulnerable to osteoporosis. Therefore, a BMD study should also be used for males, especially for the people showing lumbar vertebrae with radiolucent features.

• Radiation Oncology Journal
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• v.25 no.1
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• pp.7-15
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• 2007

[ $\underline{Purpose}$ ]: To determine the patterns of evaluation and treatment in patients with breast cancer after mastectomy and treated with radiotherapy. A nationwide study was performed with the goal of improving radiotherapy treatment. $\underline{Materials\;and\;Methods}$: A web- based database system for the Korean Patterns of Care Study (PCS) for 6 common cancers was developed. Randomly selected records of 286 eligible patients treated between 1998 and 1999 from 17 hospitals were reviewed. $\underline{Results}$: The ages of the study patients ranged from 20 to 80 years (median age 44 years). The pathologic T stage by the AJCC was T1 in 9.7% of the cases, T2 in 59.2% of the cases, T3 in 25.6% of the cases, and T4 in 5.3% of the cases. For analysis of nodal involvement, N0 was 7.3%, N1 was 14%, N2 was 38.8%, and N3 was 38.5% of the cases. The AJCC stage was stage I in 0.7% of the cases, stage IIa in 3.8% of the cases, stage IIb in 9.8% of the cases, stage IIIa in 43% of the cases, stage IIIb in 2.8% of the cases, and IIIc in 38.5% of the cases. There were various sequences of chemotherapy and radiotherapy after mastectomy. Mastectomy and chemotherapy followed by radiotherapy was the most commonly performed sequence in 47% of the cases. Mastectomy, chemotherapy, and radiotherapy followed by additional chemotherapy was performed in 35% of the cases, and neoadjuvant chemoradiotherapy was performed in 12.5% of the cases. The radiotherapy volume was chest wall only in 5.6% of the cases. The volume was chest wall and supraclavicular fossa (SCL) in 20.3% of the cases; chest wall, SCL and internal mammary lymph node (IMN) in 27.6% of the cases; chest wall, SCL and posterior axillary lymph node in 25.9% of the cases; chest wall, SCL, IMN, and posterior axillary lymph node in 19.9% of the cases. Two patients received IMN only. The method of chest wall irradiation was tangential field in 57.3% of the cases and electron beam in 42% of the cases. A bolus for the chest wall was used in 54.8% of the tangential field cases and 52.5% of the electron beam cases. The radiation dose to the chest wall was $45{\sim}59.4\;Gy$ (median 50.4 Gy), to the SCL was $45{\sim}59.4\;Gy$ (median 50.4 Gy), and to the PAB was $4.8{\sim}38.8\;Gy$, (median 9 Gy) $\underline{Conclusion}$: Different and various treatment methods were used for radiotherapy of the breast cancer patients after mastectomy in each hospital. Most of treatment methods varied in the irradiation of the chest wall. A separate analysis for the details of radiotherapy planning also needs to be followed and the outcome of treatment is needed in order to evaluate the different processes.