• Title/Summary/Keyword: 변이분석

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A Diagnosis of Ecological Health Using a Physical Habitat Assessment and Multimetric Fish Model in Daejeon Stream (물리적 서식지평가기법 및 어류 다변수 평가모델에 의거한 대전천의 생태학적 건강도 진단)

  • Kim, Ja-Hyun;An, Kwang-Guk
    • Korean Journal of Ecology and Environment
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    • v.38 no.3 s.113
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    • pp.361-371
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    • 2005
  • The objective of study was to diagnose integrative ecological health of Daejeon Stream, one of the tributaries of Guem River, during May 2004 ${\sim}$ April 2005. The research approach was primarily based on a Qualitative Habitat Evaluation Index (QHEI) and the Index of Biological Integrity (IBI) using fish assemblage. These outcomes were compared with conventional chemical dataset. For the experiment, four sampling sites were chosen from Daejeon Stream and long-term water quality data during 1995 ${\sim}$ 2004 (obtained from the Ministry of Environment) were analyzed in the spatial and temporal aspects. For the biological health assessment, we developed a stream health assessment model (SHA model) far regional applications. We found that current water quality conditions, based on the COD, BOD, TN and TP, were enhanced by 1.6 ${\sim}$ 5.3 fold over the period of 1995 ${\sim}$ 2004 and that the parameters showed a typical longitudinal decline from the upstream to downstream reach. The differences of water quality between the two reaches were more than 4.4 times, indicating a large spatial variations within the stream. The health conditions, based on the SHA model, averaged 23 and varied from 20 to 26 depending on the sampling stations. Values of the QHEI varied from 39 (Poor condition) to 124 (Cood condition)and values of QHEI in the reach of S2 ${\sim}$ S4 had significantly lower than in the headwater site (S1). Also, biological stream health, based on the criteria of US EPA (1993), was judged as 'Poor condition', in the S4 where TN, TP, BOD and COD were highest. In the meantime, maximum value of SHA (26) was found in the upstream reach (S1) where the water quality and QHEI were best. We also found that compositions of sensitive species showed a linear function with water quality conditions and this pattern was evident in the tolerant species. Thus, the biological stream health, based on the SHA model, matched well water chemistry. Overall outcomes suggest that the biological health impact was a function of chemical degradation and physical habitat quality in the stream.

Optimized Methods of Preimplantation Genetic Diagnosis for Trinucleotide Repeat Diseases of Huntington's Disease, Spinocerebellar Ataxia 3 and Fragile X Syndrome (삼핵산 반복서열 질환인 헌팅톤병, 척수소뇌성 운동실조증, X-염색체 취약 증후군의 착상전 유전진단 방법에 대한 연구)

  • Kim, Min-Jee;Lee, Hyoung-Song;Lim, Chun-Kyu;Cho, Jae-Won;Kim, Jin-Young;Koong, Mi-Kyoung;Son, In-Ok;Kang, Inn-Soo;Jun, Jin-Hyon
    • Clinical and Experimental Reproductive Medicine
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    • v.34 no.3
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    • pp.179-188
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    • 2007
  • Objectives: Many neurological diseases are known to be caused by expansion of trinucleotide repeats (TNRs). It is hard to diagnose the alteration of TNRs with single cell level for preimplantation genetic diagnosis (PGD). In this study, we describe methods optimized for PGD of TNRs related diseases such as Huntington's disease (HD), spinocerebellar ataxia 3 (SCA3) and fragile X syndrome (FXS). Methods: We performed the preclinical assays with heterozygous patient's lymphocytes by single cell PCR strategy. Fluorescent semi-nested PCR and fragment analysis using automatic genetic analyzer were applied for HD and SCA 3. Whole genome amplification with multiple displacement amplification (MDA) method and fluorescent PCR were carried out for FXS. Amplification and allele drop-out (ADO) rate were evaluated in each case. Results: The fluorescent semi-nested PCR of single lymphocyte showed 100.0% of amplification and 14.0% of ADO rate in HD, and 94.7% of amplification and 5.6% of ADO rate in SCA3, respectively. We could not detect the PCR product of CGG repeats in FXS using the fluorescent semi-nested PCR alone. After applying the MDA method in FXS, 84.2% of amplification and 31.3% of ADO rate were achieved. Conclusions: Fluorescent semi-nested PCR is a reliable method for PGD of HD and SCA3. The advanced MDA method overcomes the problem of amplification failure in CGG repeats of FXS case. Optimization of methods for single cell analysis could improve the sensitivity and reliability of PGD for complicated single gene disorders of TNRs.

Overwintering Conditions of the Diamondback Moth and Genetic Variation of Overwintering Populations (배추좀나방 월동 조건과 야외 월동집단의 유전적 변이)

  • Kim, Eunseong;Choi, Bongki;Park, Youngjin;Cha, Ookhyun;Jung, Chungryel;Lee, Daeweon;Kim, Kwangho;Kim, Yonggyun
    • Korean journal of applied entomology
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    • v.53 no.4
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    • pp.355-365
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    • 2014
  • It has been unclear whether the diamondback moth, Plutella xylostella can overwinter in Korean field conditions. This study determined overwintering conditions of P. xylostella by conducting field exposure tests based on its cold tolerance and monitoring overwintering populations by direct examination of overwintering larval habitats and capturing adults with sex pheromone traps. In addition, the overwintering populations were analyzed using polymorphic genetic markers to trace their sources. When all immature stages of P. xylostella were exposed to $-5^{\circ}C$, which was the temperature much above their supercooling points, they significantly suffered with direct cold injuries, where larval stage was most tolerant to the cold injury. However, the exposure to $5^{\circ}C$ for a long period (4 weeks) did not give any significant cold injury to nonfeeding stages, while this treatment gave lethality to larval stage without diet. When all developmental stages of P. xylostella were exposed to open field conditions during winter, they exhibited significant decreases of survival rates. However, some protected and indoor conditions reduced the cold injuries and the diet provision significantly increased larval survival rates. Adult monitoring with sex pheromone during winter period indicated that the first captures were observed at similar periods at different locations (${\approx}260$ Km apart). The overwintering adults were captured until early April. Genetic variation of these overwintering populations was analyzed with polymorphic molecular markers, indicating significant genetic divergences among the overwintering populations. This study indicates that P. xylostella can overwinter in southern Korean fields or some protected greenhouses with host plants.

Analysis of hybridity of Asplenium castaneo-viride Baker (거미꼬리고사리의 잡종성 분석)

  • Kwon, Yong Ju;Kim, Chul Hwan;Ahn, Jin Kap;Sun, Byung-Yun
    • Korean Journal of Plant Taxonomy
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    • v.39 no.1
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    • pp.12-23
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    • 2009
  • To verify hybridity of Asplenium castaneo-viride, external morphology, spore morphology, anatomy and chromosomes of the species and of the two presumed parental species, A. incisum and A. ruprechtii, were examined. A. castaneo-viride usually had 1-pinnately divided frond. However, some individuals had almost simple fronds with pinnatisect basal parts similar to A. ruprechtii, while others had fronds similar to A. incisum in having oblanceolate blades and basal pinnae with triangular, 2-3 lobed apices. On the surface of the spores, sculpturing consisted of folds that were usually prominent; forming long wings, and irregular or incomplete reticulation. However, reticulation patterns varied among species. A. castaneo-viride showed a wide range of variation from sparse to dense patterns, whereas A. incisum showed only from sparse to intermediate patterns. A. ruprechtii showed from intermediate to dense patterns. The spore size of A. castaneo-viride was $54.63{\mu}m$, larger than other two species ($47.81{\mu}m$ in A. incisum and $44.22{\mu}m$ in A. ruprechtii). The level of undulation of epidermal cell wall was also different. A. incisum had the most shallowly undulated wall, and A. castaneo-viride had a pattern intermediate between the two presumed parental species. This same patterns was recognized in the density of stomata. The density of $45.91/mm^2$ in A. castaneo-viride was intermediate between the two presumed parental species ($67.00/mm^2$ in A. incisum, and $37.86/mm^2$ in A. ruprechtii). Chromosome number was constant (2x =2n = 72) as in A. incisum and A. ruprechtii. However, A. castaneo-viride showed a different ploidy level. The populations of Mt. Mai (Jeonbuk province) and Mt. Duryun (Jeonnam province) were diploid (2n = 72) which is a new record for this taxon, whereas the population of Mt. Buram (Seoul) was tetraploid (2n = 144). Conclusively, A. castaneo-viride was revealed to be a hybrid of A. ruprechtii and A. incisum based on evidence involving leaves, spores, epidermal cells, stomata and chromosome number.

Evaluation of Various Characteristics of High Quality Rice Varieties That Could Potentially be Grown on Reclaimed Land in Jellabuk Province, Korea (전북지역 간척지에서 최고품질 벼 품종의 작물학적·이화학적 특성 비교 및 선발)

  • Choi, Chang-Hak;Kim, Kab-Cheol;Lee, Deok-Ryeol;Cho, Seung-Hyun;Cho, Dae-Ho;Lee, Song-Yi;Lee, In-Sok
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.63 no.3
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    • pp.196-204
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    • 2018
  • The main objective of this study was to identify the best quality rice for cultivation on reclaimed land in Jeollabukdo-Province based on yield, head rice ratio, protein content, amylose content, and Toyo taste value evaluations. Seven varieties of rice were grown for two years on the reclaimed land. The Sukwang variety had the earliest heading date. The tiller number for the Younghojinmi variety was 19 on average, and its variation in tiller number was the lowest, which showed that the safety for cultivation of the variety was high on the reclaimed land with respect to that of the other varieties. The culm and panicle lengths of the Sukwang and Hyunpum varieties were the highest at 81.8 and 21.3 cm, respectively. Shindongjin produced the highest thousand grain weight at 27.7 g, whereas Haepum produced the lowest at 22.3 g. The number of grains per panicle for 7 all varieties was statistically equal for both years. The yield order for the varieties was Shindongjin (590) > Hopum (575) > Younghojinmi (552) > Sukwang (551) > Hopum (543) > Mipum (534) > Haepum (498 kg/10a), which showed that there was no significant difference in average yield between the varieties when both years are taken into consideration. However, the annual difference in Haepum yield between 2015 and 2016 was the highest at 108 kg/10a, indicating low cultivation safety. The head rice ratio of Younghojinmi was higher than for the other cultivars in both 2015 and 2016. However, there was no significant difference between the 2 years when the averages for all varieties were analyzed. There was was a considerable difference in protein and amylose content between the varieties in the two years, although this was not apparent in the results when the average over 2 years for each variety was calculated. There was no significant difference between the two years with respect to the average head rice ratio, and the protein and amylose contents of the seven varieties. The Toyo taste values for the Sukwang and Mipum varieties were higher than for the other varieties. Based on the principle characteristics, such as Toyo value, the Sukwang variety is a suitable substitute for Shindongjin, which has been previously used to produce high-quality rice on the reclaimed land.

A Case of Adult-onset Type II Citrullinemia Confirmed by Mutation of SLC25A13 (SLC25A13 유전자 돌연변이로 확진된 성인형 제 2형 시트룰린혈증 1례)

  • Jeung, Min Sub;Yang, Aram;Kim, Jinsup;Park, Hyung-Doo;Lee, Heon Ju;Jin, Dong-Kyu;Cho, Sung Yoon
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.16 no.1
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    • pp.34-41
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    • 2016
  • Adult-onset type II citrullinemia (CTLN2) is characterized by episodes of neurologic symptoms associated with hyperammonemia leading to disorientation, irritability, seizures, and coma. CTLN2 is distinct from classical citrullinemia, which is caused by a mutation of the argininosuccinic acid synthetase (ASS) gene. The serum citrulline level is elevated, while the activity of ASS in liver tissue is decreased. CTLN2 is known to have a poor prognosis if the proper treatment is not taken. We reported a female aged 37 years who developed recurrent attacks of altered consciousness, aberrant behavior, and vomiting. We initially suspected the patient had CTLN2 because of the signs of hyperammonemic encephalopathy, such as altered mentality, memory disturbance, and aberrant behaviors provoked by exercise-induced stress and excessive intravenous amino acid administration. Through her peculiar diet preferences and laboratory findings that included hyperammonemia and citrullinemia, we diagnosed the patient as CTLN2, and SLC25A13 sequencing revealed known compound heterozygous mutations (IVS11+1G>A, c.674C> A). Her parents were heterozygous carriers, and we identified that her older sister had the same mutations. The older sister had not experienced any episodes of hyperammonemia, but she had peculiar diet preferences. The patient and her sister have been well with conservative management. When considering the clinical course of CTLN2, it was meaningful that the older sister could be diagnosed early in an asymptomatic period and that preemptive treatment was employed. Through this case, CTLN2 should be considered in adults who present symptoms of hyperammonemic encephalopathy without a definite etiology. Because of its rare incidence and similar clinical features, CTLN2 is frequently misdiagnosed as hepatic encephalopathy, and it shows a poor prognosis due to the lack of early diagnosis and proper treatment. A high-carbohydrate diet, which is usually used to treat other urea cycle defects, can also exaggerate the clinical course of CTLN2, so proper metabolic screening tests and genetic studies should be performed.

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Functional Modifications of Daechung Reservoir Eutrophication by Upper Dam Construction (상류댐 건설에 따른 대청호 부영양화에 대한 기능 변화)

  • Lee, Soon-Cheol;Han, Jung-Ho;An, Kwang-Guk
    • Korean Journal of Ecology and Environment
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    • v.41 no.3
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    • pp.348-359
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    • 2008
  • The objectives of the study were to elucidate functional modifications in relation to hydrological, physico-chemical and ecological aspects in Daechung Reservoir by the upper dam constructions of Youngdam Reservoir and analyze temporal and spatial dynamic patterns using trophic parameters of TN, TP, chlorophyll (CHL), and Secchi depth (SD). Hydrological data such as inflow, precipitation, and water levels before (BDC, 1995$\sim$2000) and after (ADC, 2001$\sim$2006) the dam construction showed that precipitation had greater correlations with inflow volume in the BDC (r=0.964, p=0.002) than in the ADC (r=0.857, p=0.029). This outcome indicates that the upper dam construction influenced the inflow and water level of Daechung Reservoir. One of the greatest changes after the dam construction was decreases of nutrient contents (TN, TP) and increases of algal biomass (as CHL) as the water residence time increases. Values of CHL had greater relations with TP in the ADC (r=0.412, p<0.001) than the BDC (r=0.249, p<0.001), indicating that CHL had greater response at a given phosphorus in the ADC. Thus, algal yield at a given TP (CHL : TP ratios) increased in the ADC, resulting in a greater CHL-TP relations. Long-term interannual TP, TN, SD, and CHL showed greater variations in the riverine zone (RZ) than any other transition (TZ) and lacustrine zones (LZ). This phenomenon was mainly attributed to rapid hydrological response in the riverine zone (RZ) to flow reductions (short water residence time) from the upper dam, resulting in ambient contents of nutrients and light regime along with functional relations of CHL-TP.

Clinical Evaluation of Patients with Unilateral Non-functioning Kidney on $^{99m}Tc-DMSA$ scan ($^{99m}Tc-DMSA$ 스캔에서 일측성으로 동위원소 섭취가 안되는 환아들에 대한 임상적 고찰)

  • Bae Hyun-Chul;Kim Hyun-Young;Kim Pyung-Kil;Han Sang-Won
    • Childhood Kidney Diseases
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    • v.1 no.1
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    • pp.31-37
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    • 1997
  • The DMSA scan is a useful radiologic study in diagnosis of morphologic and functional diseases of kidney. We evaluated the distribution of sex and age, clinical manifestations, diagnosis, combined diseases, treatment and prognosis of the 61 patients with non-functioning kidney(no isotope uptake or uptake below 5% in DMSA scan) who admitted in our hospital from 1980 to 1995. The proportion of patients under 1 year old age was 46%. Sex ratio was 1.4:1 with male predominance. Most diagnosis of non-functioning kidneys were congenital such as multicystic dysplastic kidney, hydronephrosis due to ureteropelvic junction obstruction, renal agenesis and renal hypoplasia. In order of frequency thirty one percent of them were previously detected on antenatal ultrasonogram. Treatment consisted of operation in 47.5%, mostly nephrectomy and 32.8% of patients were followed up at OPD base without definite treatment. The most common combined diseases was hydronephrosis, in 4patients who had both kidneys inveloved progressed to chronic renal failure, but the prognosis in most cases were good. It is important to evaluate renal diseases in perinatal periods, and we believe that highly sensitive diagnostic study contribute to early treatment plan and thus to good prognosis.

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Usefulness of Region Cut Subtraction in Fusion & MIP 3D Reconstruction Image (Fusion & Maximum Intensity Projection 3D 재구성 영상에서 Region Cut Subtraction의 유용성)

  • Moon, A-Reum;Chi, Yong-Gi;Choi, Sung-Wook;Lee, Hyuk;Lee, Kyoo-Bok;Seok, Jae-Dong
    • The Korean Journal of Nuclear Medicine Technology
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    • v.14 no.1
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    • pp.18-23
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    • 2010
  • Purpose: PET/CT combines functional and morphologic data and increases diagnostic accuracy in a variety of malignancies. Especially reconstructed Fusion PET/CT images or MIP (Maximum Intensity Projection) images from a 2-dimensional image to a 3-dimensional one are useful in visualization of the lesion. But in Fusion & MIP 3D reconstruction image, due to hot uptake by urine or urostomy bag, lesion is overlapped so it is difficult that we can distinguish the lesion with the naked eye. This research tries to improve a distinction by removing parts of hot uptake. Materials and Methods: This research has been conducted the object of patients who have went to our hospital from September 2008 to March 2009 and have a lot of urine of remaining volume as disease of uterus, bladder, rectum in the result of PET/CT examination. We used GE Company's Advantage Workstation AW4.3 05 Version Volume Viewer program. As an analysis method, set up ROI in region of removal in axial volume image, select Cut Outside and apply same method in coronal volume image. Next, adjust minimum value in Threshold of 3D Tools, select subtraction in Advanced Processing. It makes Fusion & MIP images and compares them with the image no using Region Cut Definition. Results: In Fusion & MIP 3D reconstruction image, it makes Fusion & MIP images and compares them by using Advantage Workstation AW4.3 05's Region Cut Subtraction, parts of hot uptake according to patient's urine can be removed. Distinction of lesion was clearly reconstructed in image using Region Cut Definition. Conclusion: After examining the patients showing hot uptake on account of volume of urine intake in bladder, in process of reconstruction image, if parts of hot uptake would be removed, it could contribute to offering much better diagnostic information than image subtraction of conventional method. Especially in case of disease of uterus, bladder and rectum, it will be helpful for qualitative improvement of image.

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The Correlation of Verbal Expression of Stool, Bristol Stool Form Scale and Colon Transit Time for Children with Gastrointestinal Symptoms (소화기 증상이 있는 환아의 대변표현형, Bristol 대변형태척도 및 대장통과시간검사와의 상관관계)

  • Lee, Yong Ju;Chung, Ki Sup
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.8 no.2
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    • pp.130-136
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    • 2005
  • Purpose: The aim of this study was to evaluate the correlation among descriptions regarding one's stool, Bristol stool form scale and colon transit time (CTT) in children with gastrointestinal symptoms, along with the clinical significance of Bristol stool form scale. Methods: 489 patients treated in the pediatric department of Severance hospital with gastrointestinal symptoms between May 2002 to May 2004 were included. We analyzed their age, sex, verbal descriptions of stool, Bristol stool form types, and CTT measured by Metcalf's method. Results: 116 children were under 5 years of age, 202 children between 5.1~10, and 171 children 10 years of age or older. Their mean age was $8.2{\pm}3.9years$. Stools were described as loose in 65 children (13.3%), normal in 221 (45.2%), hard in 188 (38.4%), and mixed (loose+hard) in 15 (3.1%). According to Bristol stool form scale, 57 children(11.7%) were classified as type 1, 66 (13.5%) as type 2, 203 (41.5%) as type 3, 109 (22.3%) as type 4, 36 (7.4%) as type 5, 18 (3.7%) as type 6, and 1 (0.2%) as type 7. Their mean CTT was checked $35.9{\pm}19.5hours$. Though no significant relationship was observed between age and CTT (p=0.4), a significant relationship was noted among patient's stool description, Bristol stool form scale and CTT (p<0.001). However, concordance between stool description and Bristol stool form was relatively low in the loose stool group (29%) and normal stool group (37%) while high in the hard stool group (87%). Conclusion: Bristol stool form scale could be used in the estimation of CTT in clinical practice.

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