• Journal of The Korean Society of Inherited Metabolic disease
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• v.5 no.1
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• pp.65-75
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• 2005

Purpose: To understand genetic differences and similarities between mucolipidosis and control. Methods: Using the fibroblast of the mucolipidosis II and control, forward and reverse subtracted libraries were constructed. Among these clones, we investigated mutations in the GNPTA (MGC4170) gene, which codes for the ${\alpha}/{\beta}$ subunits of phosphotransferase, and in the GNPTAG gene, which codes for the ${\gamma}$ subunits in 5 Korean patients with mucolipidosis type II or IIIA. Result: Several differentially expressed cDNAs were cloned and their sequences were determined. Mutation analysis of the interested gene, GNPTA was performed and we identified 7 mutations in the GNPTA gene, but none in the GNPTAG gene. The mutations in type II patients included p.Q104X(c.310C>T), p.R1189X(c.3565C>T), p.S1058X(c.3173C>G), p.W894X(c.2681G>A) and p.H1158fsX15(c.3474_3475delTA), all of which are non-sense or frame shift mutations. However, a splicing site mutation, IVS13+1G>A (c.2715+1G>A) was detected along with a non-sense or a frame shift mutation (p.R1189X or p.E858fsX3(c.2574_2575delGA)) in two mucolipidosis type IIIA patients. Conclusion: This report shows that mutations in the GNPTA gene coding for the ${\alpha}{\beta}$subunits of phosphotransferase, and not mutations in the GNPTAG gene, account for most of mutations found in Korean patients with mucolipidosis type II or IIIA.

• 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 Chest Surgery
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• v.38 no.12 s.257
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• pp.873-877
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• 2005

Jeune's asphyxiating thoracic dystrophy is a rare, complex malformation with a broad spectrum of clinical expression. The degree of chest wall deformity is the most important prognostic factor and the only part which is correctable. A 11 month-old male infant was diagnosed as having Jeune's syndrome and received right side lateral thoracic expansion surgery. But because respiratory distress symptom was sustained postoperatively, we performed left side procedure 3 months after the initial operation. Respiratory distress symptom got worse after fracturing the left titanium plate which was inserted to fix the expanded thoracic wall and reimplantation was performed. The patient was discharged 6 months after the initial operation. He was readmitted and received ventilator care for respiratory failure and died 10 months after the initial operation.

• 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.

• The Korean Journal of Malacology
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• v.30 no.4
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• pp.409-413
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• 2014

Purple-colored shell individuals were discovered among normal green-colored shell individuals in artificial seed of Pacific abalone, Haliotis discus hannai, reared on an ordinary type of diatom and artificial diet. In the present study, factorial mating experiments were designed to clarify the genetic control of the variant (purple type) and normal (green type) of shell color. The parental population of purple type and green type individuals were derived from a single family between a female and male of each type of coloration. The all mating families were reared in same tank for the same breed environment. The individual of 4 type families were distinguished by paternity test using microsatellite DNA. In factorial mating experiments, all individuals offspring of GG (green type female and green type male), GP (green type female and purple type male) and PG (purple type female and green type male) mating types appeared to green type. In only PP (purple type female and purple type male) mating type, all individuals offspring appeared to purple type. The results suggested that the purple shell color is controlled by recessive purple type allele and a dominant green type allele at a single locus.

• Korean Journal of Air-Conditioning and Refrigeration Engineering
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• v.9 no.2
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• pp.171-179
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• 1997

During the day time in summer, peak of air conditing load, and electric power management system lies under overloaded condition. The reason is the enlarged peak load value of electric power caused by increased air-cooling load in summer. To prevent load concentration during day time and overloaded condition of power management system, some energy storage methods are suggested. One of these methods is ice storage system. Water has some good properties as P.C.M.(Phase Chang Material) : Its melting point is the range of required operation temperature. It has large specific latent heat and is chemically stable compared to other organic or inorganic substances. It is cheap and easy to treat. This study represents experimental results of heat transfer characteristics of P.C.M. under the outward melting process in a vertical cylinder. We experimented with twelve combinations of conditions, i.e., three different inlet temperatures($7^{\circ}C,\;4^{\circ}C\;and\;1^{\circ}C$), two working fluid directions(upward and downward), and two aspect ratios, H/R(4 and 2). At the inlet temperature of $7^{\circ}C$ and $4^{\circ}C$, there was temperature stagnation region where the temperature of P.C.M. remains constant at $4^{\circ}C$ regardless of aspect ratio and direction of working fluid. This temperature stagnation occurs as the water, at its maximum density, flows down to the lower region. The phase change interface formed bell-shaped curve as the melting process continued. With a new set of conditions(4H/R, inlet temperature $4^{\circ}C$ and $1^{\circ}C$, downward/upwerd inlet direction), the movement of phase change interface was faster when the working flued inlet direction was downward. With the same set of conditions, melting rate and total melting energy were larger when the working fluid inlet direction was downward. The results were reversed when the other sets of conditions were applied.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.2
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• pp.109-114
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• 2016

Carbamoyl phosphate synthetase 1 (CPS1) deficiency is an autosomal recessive urea cycle disorder which causes hyperammonemia. CPS1 is the first enzyme step in the urea cycle and almost patients present their symptoms during neonatal period. We report a case of CPS1 deficiency in a boy who developed symptoms including lethargy and seizure at 3 days of age. The ammonia level was up to $2,325{\mu}mol/L$, sodium benzoate (250 mg/kg/d) and high calories of both dextrose and lipid was promptly administered. Central access by experienced pediatric surgeon and emergent continuous hemodialysis by pediatric nephrologist was performed within 3 hours and ammonia was less than $100{\mu}mol/L$ at 5 days of age. Currently, he has showed excellent response to treatments including scavenging drugs and a low-protein diet. Despite of diffuse increasing signal intensity on cerebral white matters and basal ganglia on brain MRI, his development and weight gain were good at the last follow-up at 11 months of age. Molecular assay of the CPS1 gene demonstrated that patient had compound heterozygous for c.1529del ($p.Gly510Alafs^*5$) in exon 14 and c.3142-1G>C (IVS25(-1)G>C) in intron 25 and exon 26 boundary. The splicing mutation was novel mutation and inherited from patient's mother. Here, we report a neonatal lethal type CPS1 deficiency patient having novel mutation.

• KOREAN JOURNAL OF CROP SCIENCE
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• v.5 no.1
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• pp.57-64
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• 1969

Several field and sweet corn varietiea from several sources were crossed with a variety carrying the opaque-2 gene to determine the phenotypic interactions in the breeding of high lysine maize. Although opaque-2 lines showed lower protein content than the corresponding normal varieties, there was no correlation between the protein levels of the two types. opaque-2 maize contained more lysine, but no relationship was found between the protein content and the lysine content of either normal or opaque-2 types, suggesting that high lysine corn using the opaque-2 gene may be developed independently from the protein content. The F2 segregation ratios for normal and opaque-2, 100-kernel weights, percentage seed set, opaque-2 phenotype, disease susceptibility, and the relationship between protein and lysine content of normal and opaque-2 were investigated. The determinations and observations were made on the F2, F3, and BC1 Lysine content was determined by the ion exchangeresin combined with paper chromatography method. Most crosses segregated in a 1-opaque-2 : 3-normal ratio as expected. Opaque-2 segregates were lighter than the normal type and smaller in size. A mottled phenotype of opaque-2 maize observed in the Philippines yellow endersperm. In some varieties opaque-2 maize was very susceptible to the ear and kernel rot disease. No. 5(female) and opaque-2(male). Selectlon of a double mutant of waxy and opaque-2 by using the iodine technique and electric lamp was discussed. opaque-2 and floruy-2 were not allels. Different percentage of seed set were observed in the segregation of aewx crossed with opaque-2. An unusual gametophytie relationship was involved in a cross between Glutinous.

• Journal of the Korean earth science society
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• v.23 no.8
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• pp.666-675
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• 2002

The purpose of this study was to develop the level-defferentiated Web Based Instruction(WBI) program, to examine its effects on the science achievement self-directed learning characteristics, and the students’ perceptions on the WBI learning. For this purpose, the advanced and complementary WBI program of level-differentiated curriculum was developed to adapt to class fields and examine instruction facilitating efficiency. Designed and developed the WBI program make it possible to teach students according to the level-differentiated learning for the chapter, ‘weather and climate’ in high school science curriculum. The results of this study are as follows: First, level-differentiated WBI was effective to encourage self-concept, learning eagerness, future-oriented self-apprehension, creativity, self-assessment of the student’s self-directed teaming characteristics. There was no interaction effect of treatment and students’ learning ability at the self-directed learning characteristics. Second, the scores of science achievement of WBI group were significantly higher than those of conventional lecture group. There was interaction effect of treatment and students’ learning ability. However level-differentiated WBI has no effect on openness, initiative, responsibility of the student’s self-directed learning characteristics. There was interaction effect of treatment and students’ learning ability at the science achievement, Third, in the perception questionnaire of WBI teaming, many students showed the WBI teaming was good in terms of causing interaction between learners and web based learning materials including various images and animations. However there are several students who showed learning difficulties. For example they wonder which part is more important and what order is proper to study in hypertext environment.

• Journal of Aquaculture
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• v.11 no.3
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• pp.353-361
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• 1998

Genetic analysis of body pigmentation pattern has been conducted by the reciprocal monohybrid and back crosses using the wild type zebrafish, Danio rerio, and its aquarium morphs (mutants), leopard danio. Also, the effect fo pigmentation mutation was investigated with regard to the survival rates of eggs and larvae for the first 15 days after fertilization. As a result, the pattern pigment distribution was inherited by a single gene having two alleles, and which was basically followed by the principle of dominace and segregaion in Mendelian inheritance. A locus for pigment pattern turned out to be located on an autosomal chromosome. Average survival rates estimated from the various crosses between, and within, wild type zebrafish and leopard danio were as follows ; they were 80.6${\pm}$4.8% from the crosses within leopard danios ($L{\times}L$), 70.6${\pm}$4.2% between leopard female and wild type male ($L{\times}Z$), 73.2${\pm}$2.0% between wild type female and leopard male ($Z{\times}L$), and 83.8${\pm}$6.7% within wild type zebrafish ($Z{\times}Z$). These results indicated that the leopard danio, which were reported as an "aquarium morph" several decades ago and also known as a mutant in pigmentation pattern of the wild type zebrafish, seemed to be genetically stable like the wild type of zebrafish.zebrafish.