• 제목/요약/키워드: 지연변이

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A Case Report for a Korean Patient with Mucopolysaccharidosis IIIA Confirmed by Biochemical and Molecular Genetic Investigation (생화학적 검사 및 분자유전학적 검사에 의해 뮤코다당증 제3A형으로 진단된 한국인 환자의 증례 보고)

  • Kim, Borahm;Cho, Sung Yoon;Sohn, Young Bae;Park, Hyung-Doo;Lee, Soo-Youn;Song, Junghan;Jin, Dong-Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • 제15권1호
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    • pp.44-48
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    • 2015
  • Mucopolysaccharidosis (MPS) IIIA is a lysosomal storage disorder caused by abnormalities of the enzyme Heparan N-sulfatase that is required for degradation of heparan sulfate. The patient in this study was a 5 year-old boy who presented with macrocephaly and developmental delay. Urinary excretion of glycosaminoglycan was increased (26 g/moL creatinine, reference range: <7 g/moL creatinine) and a distinct band of heparan sulfate was shown in electrophoresis. Heparan N-sulfatase activity was significantly decreased in skin fibroblasts (0.2 pmoL/min/mg protein, reference range: 9-64 pmoL/min/mg protein). PCR and direct sequencing analysis of the SGSH gene showed compound heterozygous mutations: c.1040C>T (p.S347F) and c.703G>A (p.D235N). This is the first report for a Korean patient with MPS IIIA who was confirmed by biochemical investigation and molecular genetic analyses.

동해지역의 선상중력자료 처리 및 해면고도계자료와의 비교

  • 최광선;원지훈
    • Proceedings of the International Union of Geodesy And Geophysics Korea Journal of Geophysical Research Conference
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    • IUGG한국위원회 2003년도 정기총회 및 학술발표회
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    • pp.19-19
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    • 2003
  • 본 연구에서는 국립해양조사원의 '해양2000호'를 통해 1996년과 1997년에 측정한 동해 지역의 중력자료에 대한 자료 처리를 하였다. 효과적인 자료처리를 위해 선상중력자료 처리에 필요한 각종 보정 절차와 문제점 등을 알아보았으며, 선상자료와 해면고도계자료의 비교 및 이를 통한 선상자료의 검증을 실시하였다. 선상중력자료는 측정과 처리 과정에 있어 여러 사항을 고려하여야 한다. 즉, 육상중력기점을 이용한 절대중력으로의 환산 문제, 선박 항해 위치의 부정확성에 기인하는 문제 및 중력계의 기계적 특성과 중력 측정이 이루어질 때의 해상 조건에 의한 영향 등으로 선상중력자료에 나타나는 여러 오차를 최소화하여야 한다. 선상중력자료로부터 각종 지구중력장 연구에 필요한 중력이상을 계산하기 위해 선상중력 측정시 기인되는 각종 요인의 오차를 고려한 효과적인 보정이 이루어져야 한다. 즉, 선상중력계의 기계변이 보정, 탐사선에 대한 위치 자료의 획득 및 필터링, 그리고 탐사선의 이동으로 인한 Eotvos 효과의 정확한 계산 및 보정이 필요하고, 선상중력계의 기계적 특성에 의해 나타나는 시간지연에 대한 보정도 필요하다. 또한 이러한 보정을 통해 계산한 중력 이상에서 각 교점의 오차를 보정하는 교정오차 보정도 실시하여야 한다. 특히, 탐사선의 이동으로 인한 지구자전 각속도의 상대적인 증감의 효과로 나타나는 Eotvos 효과의 영향은 선상중력자료의 정확도에 가장 큰 영향을 미친다. 이의 정확한 계산 및 보정을 위해서는 정확한 위치정보가 필요하며 본 연구에서는 이를 위해 GPS 항해정보에 대한 Kalman 필터를 실시하였고, Eotvos 효과에 대해 Savitzky-Golay 필터를 적용하여 최적의 Eotvos 보정을 시도하였다. 본 연구에서 계산된 동해지역의 중력이상에 대한 대력적인 범위는 경도 129° - 133°이고 위도 35° - 38.3° 부근이다. 이 지역에 대한 고도이상은 최소 -42.46 mGal에서 최고 161.13 mGal사이에 분포하며, 고도이상의 평균은 14.450 mGal이다. 또한 Bouguer 이상은 최소 -l5.09 mGal에서 최고 218.61 mGal이고 이의 평균은 82.681 mGal이다. 그리고 동해지역의 선상중력 측정지역에서 선상자료에 의한 중력이상과 Altimeter 자료에 의한 고도이상의 전반적인 윤곽은 비슷하면서도 일부 작은 이상의 차이가 나타났으며, 지형자료와 비교하여 보면 Altimeter에 의한 결과보다 선상측정에 의한 결과가 더욱 잘 일치하고 있어 본 연구에서 계산한 선상자료의 타당성을 알 수 있다. 고도이상의 차이는 최소 -25.94 mGal에서 최대 85.33 mGal의 차이를 보이며 차이의 평균은 3.517 mGal, RMS는 6.774 meal이다. 이는 비교적 큰 차이로 선상측정자료의 중요성과 필요성을 단적으로 나타내고 있다.

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Effects of Fruiting Productivity of Grifola frondosa Using Bottle Cultivation according to Different Substrate Composition (잎새버섯에서 배지조성이 병재배 자실체 생산성에 미치는 영향)

  • Kim, Jeong-Han;Jeon, Dae-Hoon;Kang, Young-Ju;Jeoung, Yun-Kyeoung;Lee, Yun-Hae;Chi, Jeong-Hyun
    • The Korean Journal of Mycology
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    • 제44권3호
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    • pp.150-154
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    • 2016
  • To determine a favorable substrate formulation for Grifola frondosa, physicochemical conditions, culture properties, and yields according to various substrate formulations were investigated. Based on these analyses, T4 (80:5:15 ratio of oak sawdust to dried bean-curd refuse to corn husk) resulted in a shorter cultivation period and higher yields (weight of fresh mushrooms harvested at maturity) than those of other treatments. The physicochemical properties of T4 were pH 5.4, 2.4% crude fat contents, 54 C/N ratio, 74.3% porosity, and 0.26 g/cm3 bulk density. These results emphasize the importance of optimal substrate development on the production efficiency of G. frondosa mushrooms and have implications for commercial applications.

Effect of Shifting Planting - time and Different Nitrogen Level on the Yield and Characteristics of Plant Growth in Safflower, Carthamus Tinctorius L. (파종기 추동 및 질소비료수준차이가 홍화의 생육, 수량에 미치는 영향)

  • 박종선
    • KOREAN JOURNAL OF CROP SCIENCE
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    • 제26권1호
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    • pp.96-102
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    • 1981
  • Effect of shifting planting-time and different nitrogen on the yield and characteristics of plant growth in safflower, Chrthamus Tinctorius L. This study was carried out to investigate the optimum sowing-date and the ecological variations due to differerent amount of nitrogen for safflower on the Experiment Farm of Sang Ji college from March 17 to may 16, 1980, sowing seeds with an interval of 10 days and the amount of nitrogen were applied in 5 levels (Non, half-standard, standard, one and half-ordinary amount-No and twice amount). The triple super phosphate and pottassium chloride were applied only in standard amount. The results obtained are summarized as follows; 1. As sowing-date was delayed, the germination-ratio decreased, germinating speed increased, and the time required to attain the most vigorous germinating stage and days required for germination shortened. 2. Plant height, number of branch and stem diameter showed a decrease as sowing-date was delayed. And at the same time, plant height and number of branch showed a tendency to increase as amount of nitrogen was increased. 3. As sowing-date was delayed, the number of pods and the weight of 1000-grains were decreased. Moreover, the earlier sowing-date was, the more it increased. And as amount of nitrogen was increased, number of pods and yield also were strikingly increased. 4. The fresh-weight of flower with orange and orange-red colour, as influenced by the different sowing-date, was found out to be largest at the begining of April. But increasing amount of nitrogen did not show influence upon the promotion of flowering. 5. Judging from the results reported above, the optimum sowing-date of safflower seemed to be the begining of April; also the culture of safflower seemed to be the effects of much amount of nitrogen.

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Surgical Treatment with Extracorporeal Circulation for Acute Dissection of Descending Thoracic Aorta (체외순환을 이용한 흉부 하행대동맥의 급성 박리증 수술)

  • 최종범;정해동;양현웅;이삼윤;최순호
    • Journal of Chest Surgery
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    • 제31권5호
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    • pp.481-487
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    • 1998
  • The surgical management of acute type B dissection is controversial. The complexity of the repair usually requires a period of aortic cross-clamping exceeding 30 minutes, which can cause ischemic injury of the spinal cord. Several forms of distal perfusion have been considered for use to prevent this injury. To determine the safety and efficacy of a graft replacement with cardiopulmonary bypass in reparing acute dissection of descending thoracic aorta, we retrospectively reviewed our surgical experience treating 8 patients who had aortic dissection secondary to atherosclerosis, trauma, and carcinoma invasion. Cardiopulmonary bypass was performed with two aortic cannulas for simultaneous perfusion of the upper and lower body and one venous cannula for draining venous blood from the right atrium or inferior vena cava. Although aortic cross-clamp time was relatively long (average, 117.8 minutes; range, 47 to 180 minutes) in all cases, there was no neurologic deficit immediately after graft replacement for the aortic lesion. Two patients(25%) of relatively old age died on the postoperative 31st and 41st days, respectively, because of delayed postoperative complications, such as pulmonary abscess and adult respiratory distress syndrome. Although any of several maneuvers may be appropriate in managing dissection of the descending aorta, graft replacement with cardiopulmonary bypass during aortic cross-clamping may be a safe and effective method for the treatment of acute dissection of the descending thoracic aorta.

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Effects of osmoticum treatments and shooting chances on the improvement of particle gun-mediated transformation in Phalaenopsis (유전자총을 이용한 팔레놉시스 형질전환 효율향상에 삼투압 조절제 및 발사횟수차이가 미치는 영향)

  • Roh, Hee Sun;Kim, Jong Bo
    • Journal of Plant Biotechnology
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    • 제41권4호
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    • pp.216-222
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    • 2014
  • This study was carried out to develop an efficient transformation protocol via particle bombardment with PLBs (protocorm-like bodies) in Phalaenopsis. To achieve this aim, osmoticum treatment and an increasing shooting chances in particle bombardment process were applied for this study. In addition, pCAMBIA3301: ORE7 vector which contains a herbicide-resistance bar gene as a selectable marker and ORE7 gene as a gene of interests were employed. With regard to the increasing chances of shooting in particle bombardment, double shooting was the best results with 1.5 ~ 2.5 times higher than those of a single or triple shooting treatment in the productioon of PPT (D-L-phosphinothricin)-resistant PLBs. However, regeneration rate of shoots in double shooting was not high as a single shooting. Further, double shooting showed 35 ~ 40% higher than that of a single shooting in the frequency of browning. Regarding effects of different osmotic treatments, combination of 0.2 M sorbitol with 0.2 M mannitol showed the best results in transformation efficiency, regeneration of transformants and reduction of browning. Putative transgenic Phalaenopsis plants were analyzed by PCR analysis and confirmed the presence of bar and ORE 7 gene. Also, real-time PCR was conducted by using 21 transgenic plants and showed only 4 plants had one copy of transgene; whereas, the other 17 plants had more than 2 copies of transgene. Transgenic phalaenopsis plants produced in this study were transferred to pots and flowered normally without morphological variations in flower and leaf.

Case Report on NTBC Treatment of Type 1 Tyrosinemia Diagnosed through Newborn Screening (신생아 선별검사를 통해 진단된 1형 타이로신혈증의 NTBC 치료 사례 보고)

  • Ji Eun Jeong;Hwa Young Kim;Jung Min Ko
    • Journal of The Korean Society of Inherited Metabolic disease
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    • 제23권2호
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    • pp.39-44
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    • 2023
  • Hereditary tyrosinemia type 1 (HT-1) is a metabolic disorder caused by biallelic pathogenic variants in the fumarylacetoacetate hydrolase (FAH) gene, which impairs the function of the FAH enzyme, resulting in the accumulation of tyrosine's toxic metabolites in hepatocytes and renal tubular cells. As a consequence, individuals with HT-1 exhibit symptomatic manifestations. Rapid diagnosis and treatment of HT-1 can prevent short-term death and long-term complications. A 15-day-old boy presented to the outpatient department with elevated levels of tyrosine on his newborn screening tests conducted at the age of 3 and 10 days, respectively. Further blood tests revealed increased levels of alpha-fetoprotein and amino acids including tyrosine and threonine. Urine organic acid tests indicated a significant elevation in tyrosine metabolites, as well as the presence of succinylacetone (SA), which led to the diagnosis of HT-1. Two pathogenic and likely pathogenic variants of FAH compatible with HT-1 were also detected. He began a tyrosine-restricted diet at one month old and received nitisinone (NTBC) at two months old. With continued treatment, the patient's initially elevated AFP level, detection of SA in the urine, and mild hepatomegaly showed improvement. During four years and seven months of treatment, there were no exceptional complications apart from an increase in tyrosine levels and a delay in speech. We report a case of tyrosinemia type 1 detected through newborn screening, treated with dietary restriction and NTBC, with a good prognosis.

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Studies on Ecological Characteristics of Some Soybean(Glycine max (L.) Merr.) Cultivars l. Effects of Planting Dates on Yields and Other Agronomic Characteristics (주요 대두품종의 생태적 특성에 관한 연구 제1보 파종기가 수량 및 제 특성에 미치는 영향)

  • 최경구;김진기;권용주;이성춘;전병기
    • KOREAN JOURNAL OF CROP SCIENCE
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    • 제25권3호
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    • pp.41-49
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    • 1980
  • This study was carried out to find the most suitable soybean cultivars and optimum planting dates by checking yields and other agronomic characteristics in the Jeonbug area. It was observed that seed yields and other characteristics tended to increase for early planting dates, and the correlation between yields and other characteristics seemed to vary with planting dates. Tousan 73 and Williams among the 20 varieties used, appeared to have high yields no matter what the planting date, thus these are the most promising varieties in the Jeonbug area. However, further studies are needed on these varieties of soybeans.

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Studies on the Effects of various Levels of Protein in the Artificial Diet on Nutritional Physiology of the Silkworm, Bombyx mori (인공사료의 단백질수준이 가잠의 영양생리에 미치는 영향에 관한 연구)

  • 설광열
    • Journal of Sericultural and Entomological Science
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    • 제23권2호
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    • pp.37-49
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    • 1982
  • Larvae of the silkworm (Bombyx mori L.) were reared during the 5th instar on the four kinds of artificial diets on the basis of the different amounts of soybean meal used as the protein source. In this experiment it was shown that the various levels of protein in the diet affected not only the growth and silk production but the digestibility of the diet. haemolymph protein and uric acid excretion. The results obtained are summarized as follows; 1. By an increase of the level of protein in the diet the apparant digestibility was increased. but the protein digestibility was comparatively decreased. 2. Larval body weight increment was not observed by the 3rd day of the 5th instar, but was increased from the 4th day as the level of protein was increased in the diet. 3. After the 3rd day of the 5th instar, protein content in the hemolymph was increased steeply by an increase of the protein content in the diet. However, the percentage of hemolymph protein to the ingested protein was decreased from the 2nd day of the 5th instar and increased more or less after the 4th day. 4. An increase of the uric acid excretion was observed as the content of protein in the diet was increased but the pattern of the uric acid excretion was different between high and low-protein diet. However, the percentage of the uric acid excretion to the ingested protein and to the hemolymph protein were both decreased steeply after the 2nd day of the 5th instar. 5. It was also evident that the high-protein diet increased the cocoon productivity. 6. It showed that the feed efficiency for body weight increment and silk formation was high by an increase of the level of protein in the diet, but the protein efficiency was not.

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Effect of Seedling Age on Growth and Yield at Transplanting of Sorghum (Sorghum bicolor L. Moench) (수수 묘의 이식 시기가 생육 및 수량에 미치는 영향)

  • Jo, Su-Min;Jung, Ki-Youl;Kang, Hang-Won;Choi, Young-Dae;Lee, Jae-Saeng;Jeon, Seung-Ho
    • KOREAN JOURNAL OF CROP SCIENCE
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    • 제61권1호
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    • pp.50-56
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    • 2016
  • Direct seeding of sorghum (Sorghum bicolor L. Moench) has a problem of low yield including poor establishment. This poor establishment results from poor quality seed, poor seedbed preparation, seedling pests, poor sowing technique and high soil temperature. This study sought to establish the age at which sorghum seedlings can be transplanted with minimal effects on grain yield. Transplants were raised in 128 nursery tray pot. Five seedling ages were established by transplanting at 10 (T10), 15 (T15), 20 (T20), 25 (T25) and 30 (T30) days after planting (DAP). The treatment combinations were arranged in a randomized complete block design and replicated three times with an individual plot size of $6{\times}5m^2$. Each plot had five ridges with a planting space of $0.60{\times}0.20m^2$ at one plants per stand. Results showed that seedling age on transplanting significantly affected growths and yields to sorghum after transplanting. Plant heights and diameters of transplants at T15 were longer than the other transplants. Conclusively, The advantages of this practice were better control of crop density and greater yields; either to fill gaps after emerging and thinning of crops or to compensate for a growth period that was too short for a complete crop cycle.