• Journal of The Korean Society of Inherited Metabolic disease
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• v.19 no.1
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• pp.12-19
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• 2019

Purpose: Isolated methylmalonic acidemia (MMA) is an autosomal recessive inherited disorder of propionate metabolism. There are two subtypes of MMUT gene defects. $Mut^0$ represents complete loss of methylmalonyl-CoA mutase (MCM) activity while mut- is associated with residual MCM activity, which can be stimulated by hydroxocobalamin (OHCbl) supplementation. The objective of this study is to investigate cobalamin responsiveness and mutations present in Korean MMA population. Methods: We evaluated 10 MMA patients using somatic cell complementation analysis on their fibroblasts to measure MCM activity and vitamin B12 responsiveness for the optimal treatment. MMUT gene was sequenced to identify the MMA mutations. Results: For all patients, the incorporation of $[^{14}C]-propionate$ was low, and there was no response to OHCbl. The incorporation of $[^{14}C]-methyltetrahydrofolate$ and $[^{57}Co]-CNCbl$ fell within the normal range. There was adequate synthesis of methylcobalamin while the synthesis of adenosylcobalamin was low. The complementation analysis showed all patients were $mut^0$. The sequence analysis identified 12 different MMUT mutations, including 2 novel mutations, p.Gln267Ter and p.Ile697Phe, were identified. All the patients in this study had neonatal onset of symptoms, belonged to $mut^0$ complementation class, and as a result, showed no cobalamin responsiveness. Conclusion: No Korean MMA patient showed cobalamin responsiveness.

• Journal of Plant Biotechnology
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• v.33 no.4
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• pp.309-313
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• 2006

Discovery of single nucleotide polymorphisms (SNPs), including small insertions and deletions, is one of the hot topics in genetic research. The most common type of sequence variant consists of single base differences or small insertions and deletions at specific nucleotide positions. Significance of SNPs in rice is increasing for genetic research, positional cloning and molecular breeding. $F_2$ 170 lines and $F_3$ 194 lines derived from Sangjuchalbyeo/HR13721-53-3-1-3-3-2-2 Were used for Searching SNP markers related to bacterial blight resistance. Sangjuchalbyeo is susceptible to bacterial blight, but HR13721-53-3-1-3-3-2-2 has Xa1 gene resistant to bacterial blight. Individual lines were inoculated with $K_1$ race of bacterial blight and resistant or susceptible was evaluated after 3 weeks from inoculation. The genotypes of population were analysed by PCR-RFLP for SNP marker developing. The segregation of $F_2\;and\;F_3$ population showed almost 3:1, 1:1 ratio, respectively. Analysis of genotype using SNP marker is capable of confirming resistance for $K_1$ race and genotype through amplifying the gene using 16PFXal primer and digested the PCR product with Eco RV. There were close relation between resistance test for $K_1$ race and SNP marker genotype. Especially, DNA analysis using SNP marker is capable of judging homozygote/heterozygote in $F_2$ population compared with resistant test for Kl race. So, it seems to improve the selection efficiency in disease resistant breeding.

• Journal of Aquaculture
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• v.9 no.2
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• pp.125-132
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• 1996

A study was carried out to test sex ratio of the progeny that were induced by the artificial fertilization between normal female and gynogenetic diploid eggs and sex-reversed gynogenetic diploid male sperm. Sex reversed gynogenetic diploid males were produced successfully in gynogenetic diploid female by immersion treatment with $17{\alpha}$-methyltestosterone at the concentration of 10 pub from $13.5{\pm}0.22$ mm to $57.6{\pm}5.1$ mm in total length. In $F_1$ progeny test, matings between normal females and sex-reversed gynogenetic males were not produced all female, but matings between gynogenetic diploid females and sex-reversed gynogenetic males were produced all female populations in six out of eight groups and two lots produced $96.9\%$ and $95\%$ female. These data showed that all-female populations were produced by crossing between gynogenetic diploid female and sex reversed gynogenetic diploid male.

• Asian Pacific Journal of Cancer Prevention
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• v.17 no.sup3
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• pp.155-160
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• 2016

Breast cancer (BC) is the second most common cancer in the world and by far the most frequent cancer among women, with an estimated 1.67 million new cancer cases diagnosed in 2012 (25% of all cancers). Polygene expression analysis is used to predict the prognosis and determine the most appropriate treatment regimen. The objective of this study was to examine the gene expression profiles of SIRT3, HRAS, LSP1, SCUBE2 and AP2A2 in Iranian women with BC.A total of 136 patients including healthy controls were categorized into three groups based on the relapse of the disease. Expression of desired genes in formalin-fixed, paraffin embedded tissues collected from all groups of participants was analyzed via the RT PCR method. RNA extraction and cDNA synthesis were performed then real-time quantitative PCR was carried out. Gene expression analysis revealed that the expression of SIRT3 was equal among patient and control groups. LSP1 was down regulated in all patient groups relative to controls but reduced expression in the metastatic group relative to the non-metastatic one was not significant. HRAS was significantly overexpressed in total and metastatic tumor samples versus normal but not in non-metastatic cases. SCUBE2 expression showed significant over-expression in both overall tumor samples and the non-metastatic group as compared to normal tissues. Gene expression level of AP2A2 in all groups was not detectable. Our data are compatible with a tumor suppressor role of LSP1 related to potential prognostic factor for tumor recurrence and outcome. This study for the first time assayed the prognostic value and changes in the expression of SIRT3, LSP1, HRAS, SCUBE2 and AP2A2 genes in women with breast cancer in the Iranian population and findings confirmed potential biomarker and prognostic capability of these genes. Such expression profiling data can critically improve prognosis and treatment decisions in cancer patients.

• Journal of Genetic Medicine
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• v.8 no.2
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• pp.89-99
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• 2011

Over the years Korean health care system has improved in delivery of quality care to the general population for many areas of the health problems. The system is now being recognized in the world as the most cost effective one. It is covered by the uniform national health insurance policy for which most people in Korea are mandatory policy holders. Genetic counseling service, however, which is well recognized as an integral part of clinical genetics service deals with diagnosis and management of genetic condition as well as genetic information presentation and family support, is yet to be delivered in comprehensive way for the patients and families in need. Two major obstacles in providing genetic counseling service in korean health care system are identified; One is the lack of recognition for the need for genetic counseling service as necessary service by the national health insurance. Genetic counseling consumes a significant time in delivery and the current very low-fee schedule for physician service makes it very difficult to provide meaningful service. Second is the critical shortage of qualified professionals in the field of medical genetics and genetic counseling who can provide the service of genetic counseling in clinical setting. However, recognition and understanding of the fact that the scope and role of genetic counseling is expanding in post genomic era of personalized medicine for delivery of quality health care, will lead to the efforts to overcome obstacles in providing genetic counseling service in korean health care system. Only concerted efforts from health care policy makers of government on clinical genetics service and genetic counseling for establishing adequate reimbursement coverage and professional communities for developing educational program and certification process for professional genetic counselors, are necessary for the delivery of much needed clinical genetic counseling service in Korea.

• Journal of Korean Society of Forest Science
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• v.83 no.3
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• pp.365-371
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• 1994

This study was conducted to investigate variations in taxol contents of bark, shoots, needles of three native Taxus species in Korea. Sample materials were collected in early October of 1992 from five individual, trees each of the five populations of Taxus cuspidata located at Mt. Halla, Mt. Jiri, Mt. Deokyu, Mt. Sobaek, and Mt. Taebaek and two individual trees of Taxus cuspitosa in Mt. Seolak and in March of 1993 from the five individual trees of Taxus cuspidata var. latifolia in Ulleung Island. The collected materials were analyzed by HPLC to determine the amount of taxol content. Regardless of species and population, the taxol content was highest in bark and followed by shoots and needles. In Taxars cuspidata the taxol content in the bark was highest for the population of Mt. Halla (0.017%) and decreased in the order of Mt. Jiri, Mt. Sobaek, Mt. Deokyu, and Mt. Taebaek. The taxol content in the shoots was highest for the population of Mt. Halla(0.0053%) and decreased in the order of Mt. Sobaek, Mt. Jiri, Mt. Deokyu, and Mt. Taebaek. The taxol content in the needles was higher for the population of Mt. Halla(0.0013%) than any other populations and decreased in the order of Mt. Taebaek, Mt. Sobaek, Mt. Deokyu and Mt. Jiri. The taxol contents of Taxus caespitosa(0.0035%) were lower than that of Taxus cuspidate in all of the three plant parts. The taxol content of Taxus cuspidate var. latifolia(0.0064%) was higher than that of Taxus cuspidate for shoots and needles, but lower than that of Taxus cuspidate. There was a tendency of increasing taxol contents of bark and shoots of Taxus cuspidate, as latitude decreased. This study indicated that taxol content was relatively high in the populations of Taxus cuspidate. Particularly taxol content in the bark of the Taxus cuspidate in Mt. Halla population was about the same as that of pacific yew, indicating a high potential for commercial use.

• International Journal of Industrial Entomology and Biomaterials
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• v.15 no.1
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• pp.47-58
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• 2007

The tiny dragonfly, Nannophya pygmaea(Odonata: Libellulidae) is one the smallest dragonflies in the world and listed as a second-degree endangered wild animal and plant in Korea. For the long-term conservation of such endangered species, an investigation on nation-wide genetic magnitude and nature of genetic diversity is required as a part of conservation strategy. We, thus, sequenced a portion of mitochondrial COI gene, corresponding to "DNA Barcode" region(658 bp) from 68 N. pygmaea individuals collected over six habitats in Korea. The sequence data were used to investigate genetic diversity within populations and species, geographic variation within species, phylogeographic relationship among populations, and phylogenetic relationship among haplotypes. Phylogenetic analysis and uncorrected pairwise distance estimate showed overall low genetic diversity within species. Regionally, populations in southern localities such as Gangjin and Gokseong in Jeollanamdo Province showed somewhat higher genetic diversity estimates than those of remaining regions in Korean peninsula. Although geographic populations of N. pygmaea were subdivided into two groups, distance- or region-based geographic partition was not observed.

• The Plant Pathology Journal
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• v.22 no.3
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• pp.248-254
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• 2006

Pear black necrotic leaf spot (PBNLS) on pear trees (Pyrus pyrifolia) is caused by a Korean isolate of Apple stem grooving virus (ASGV-K). Yellow spots were detected in Phaseolus vulgaris (kidney bean) and Chenopodium quinoa which were grown near the diseased pears in year 2000 through 2003. The ASGV-K, the causative agent of PBNLS, was detected from the symptoms of the diseased kidney bean plant and C. quinoa. ASGV-harboring fungi were also isolated from symptomatic plants and from soils surrounding the infected plants. The ASGV-harboring fungus was identified and characterized as Talaromyces flavus. Ecopathological studies showed that the number of ASGV-harboring fungi on the pear leaves was not correlated with differences in temperature or severity of symptoms. Additionally, there was no difference in fungus frequency among the orchard locations or different host plants. Although the frequency of fungi isolated from the soil was not affected by changes in temperature or location, the fungi occurred at higher densities in the rhizosphere than in the plants themselves.

• Parasites, Hosts and Diseases
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• v.54 no.2
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• pp.173-179
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• 2016

Echinostoma hortense (Digenea: Echinostomatidae) is one of the intestinal flukes with medical importance in humans. However, the mitochondrial (mt) genome of this fluke has not been known yet. The present study has determined the complete mt genome sequences of E. hortense and assessed the phylogenetic relationships with other digenean species for which the complete mt genome sequences are available in GenBank using concatenated amino acid sequences inferred from 12 protein-coding genes. The mt genome of E. hortense contained 12 protein-coding genes, 22 transfer RNA genes, 2 ribosomal RNA genes, and 1 non-coding region. The length of the mt genome of E. hortense was 14,994 bp, which was somewhat smaller than those of other trematode species. Phylogenetic analyses based on concatenated nucleotide sequence datasets for all 12 protein-coding genes using maximum parsimony (MP) method showed that E. hortense and Hypoderaeum conoideum gathered together, and they were closer to each other than to Fasciolidae and other echinostomatid trematodes. The availability of the complete mt genome sequences of E. hortense provides important genetic markers for diagnostics, population genetics, and evolutionary studies of digeneans.

• Asian-Australasian Journal of Animal Sciences
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• v.21 no.4
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• pp.478-483
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• 2008

Records of a Northeastern Thai indigenous cattle line population were used to estimate genetic parameters and annual trends for calf weights. The data set comprised records of 1,922 and 1,489 animals for birth and weaning weight, respectively born from 1993 to 2004. A bivariate analysis was carried out for variance and covariance components estimations using average information restricted maximum likelihood procedure. Average estimated breeding value and maternal breeding value of the animals born in 1993 were set to zero as a base group. Genetic trends of each trait were calculated by regressing average estimated breeding values and maternal breeding values on birth year of calves. Phenotypic trends for each trait were calculated by regressing the yearly adjusted weight on birth year of calves. The results revealed that the estimate of direct heritability, maternal heritability and maternal permanent environmental variance as a proportion of phenotypic variance for birth and weaning weight was 0.40, 0.14 and 0.04; 0.27, 0.05 and 0.23, respectively. Direct heritability was moderately heritable and genetic improvement through selection can be achieved. The estimate of phenotypic, direct genetic, maternal genetic and maternal permanent environmental correlation between birth and weaning weight was 0.48, 0.65, 0.98 and 0.73, respectively. The phenotypic trend, genetic trends of estimated breeding value and maternal breeding value for birth weight was 0.18, 0.04 and 0.01 kg/year, respectively. The phenotypic trend, genetic trends of estimated breeding value and maternal breeding value for weaning weight was -1.36, 0.32 and 0.03 kg/year, respectively. As maternal genetic effect was considerably less important than direct genetic effect, selection for improved weaning weight of this Northeastern Thai indigenous cattle line can place more emphasis on the direct genetic effect.