• Title/Summary/Keyword: deletion analysis

Search Result 535, Processing Time 0.05 seconds

Transgenic Mice Overexpressing Cocaine-Amphetamine Regulated Transcript in the Brain and Spinal Cord (뇌와 척수에서 Cocaine-Amphetamine Regulated Transcript를 과발현하는 형질전환 생쥐)

  • Choi, S.H.;Lee, J.W.;Park, H.D.;Jahng, J.W.;Chung, K.S.;Lee, H.T.
    • Korean Journal of Animal Reproduction
    • /
    • v.25 no.4
    • /
    • pp.389-397
    • /
    • 2001
  • Cocaine-amphetamine regulated transcript (CART), a satiety factor regulated by leptin, is associated with food intake and motor behavior. In knock out studies, Leu34Phe mutation of human CART gene resulted in obese phenotype but mice carrying a targeted deletion of the CART gene exhibited no dramatic increase of body weight on normal fat diet. To establish a new transgenic mouse model for determining the function of CART on feeding behavior in vivo, we constructed the fusion gene, CART gene under the control of neurofilament light chain promoter, which regulates gene expression at the stage of neuronal differentiation. Transgenic mice were generated by microinjection method and screened by PCR and Southern blot analyses. In these transgenic mice, overexpression of CART was detected by in situ hybridization in spinal cords and brains at 13.5 days post-coitum embryos. At six weeks of age, RT-PCR analysis showed that exogenous CART mRNA was expressed strongly in brains and spinal cords, but not much in other tissues. Our results suggest that these transgenic mice provide a new model to investigate the function of CART gene in neuronal network associated with feeding behavior.

  • PDF

Comparison of UCP2 Polymorphism and Dietary Habits in University Students (대학생의 UCP2 유전자 다형성과 식습관 비교연구)

  • Kim, Kyung-Hee;Park, Mi-Won
    • Journal of the Korean Society of Food Culture
    • /
    • v.24 no.2
    • /
    • pp.224-235
    • /
    • 2009
  • This study aimed to research meal quality and the dietary behaviors of college students for desirable dietary lives and provides basic data for nutritional education by examining polymorphism distribution of the UCP2 gene according to gender, by investigating attitudes in terms of their dietary habits and dietary lives, and by analyzing serum lipid levels and body composition. A survey was conducted with a total of 222 students - 93 male and 129 females. Based on a selfreporting method, the questionnaires were answered over 20 minutes, and UCP2 insertion/deletion gene polymorphism and blood samples were also analyzed. The results showed that the male students and female students had average BMI of 22.50 and $20.73\;kg/m^2$, respectively. According to answers regarding their dietary lives, 51.4% of the students showed 'irregular eating' patterns, which is regarded as something to be corrected. In terms of eating regularity, 51.6% of the male students and 59.7% of the female students had irregular meal schedules. As the most important meal of a day, 64.0% of the students answered 'breakfast' but only 53.6% answered that they ate breakfast everyday. In addition, 39.8% of the male students and 50.4% of the female students ate between meals 'once a day'. When questioned if they were satisfied with their body shape, 17.8 and 45.2% of the male students answered they were 'satisfied' or needed to 'gain weight', respectively, whereas 17.8 and 77.5% of the female students answered they were 'satisfied' or needed to 'lose weight', respectively. The results of the UCP2 gene polymorphism analysis showed that 33.7% of the males belonged to the DI heterozygote group, 64.2% belonged to the DD homozygote group, and 2.1% belonged to the II homozygote group. For the female students, 63.4% belonged to the DI heterozygote group, 35.1% belonged to the DD homozygote group, and 1.5% belonged to the II homozygote group. According to the blood and serum lipid analyses, the male students showed average HDL-cholesterol, LDL-cholesterol, and hemoglobin levels of 57.20, 93.80, and 15.00 mg/dL, respectively, while the female students presented average levels of 56.69, 102.88, and 13.13 mg/dL, respectively. In conclusion, this study found no significant effects in terms of UCP2 gene polymorphisms, but it is suggested that practical plans must be designed that allow college students to use nutritional knowledge in their daily lives, and in particular, nutrition education needs to be develop that would enable female college students to recognize their bodies appropriately and to control their weight in desirable ways.

Role of Salmonella Typhimurium SlyA in Regulating the Expression of VirulenceFactors Related to Survival in Macrophages (대식세포 내 생존과 관련된 독성인자 발현 조절에서의 Salmonella Typhimurium SlyA의 역할)

  • Yeo bin Kim;Jeong-eun Baek;Yeon Ha Kim;Young Hee Kim;Ah Young Yoo;Ho Young Kang
    • Journal of Life Science
    • /
    • v.34 no.2
    • /
    • pp.79-85
    • /
    • 2024
  • SlyA is known as a transcriptional regulator that regulates the expression of hemolysin (HlyE) in E. coli, a member of the Enterobacteriaceae family such as Salmonella. However, Salmonella has the slyA gene but lacks the hlyE gene. Then, because we were curious about the role of SlyA in Salmonella, we constructed and explored a mutant strain with a deletion of the slyA gene. S. Typhimurium CK295 (ΔslyA) was constructed using an allelic exchange approach. In a comparative analysis between the wild-type and the CK295 strain, no significant differences were observed in growth characteristics, motility, total protein analyses, and secreted protein analyses. However, the CK295 strain exhibited slightly reduced biofilm formation compared to the wild-type. Interestingly, as a result of comparing the survival ability in macrophages, the mutant strain showed a 60% decrease in survival ability compared to the wild-type. To evaluate toxicity in mice, mortality was measured after oral administration to 6-week-old BALB/c mice. As a result, the LD50 value of the CK295 (ΔslyA) was more than 100 times higher than that of wild-type S. Typhimurium 𝜒3339 in BALB/c. In conclusion, SlyA is presumed to regulate the expression of genes encoding virulence factors involved in the in vivo survival of Salmonella.

Measuring Intracellular Mycobacterial Killing Using a Human Whole Blood Assay (인체 전혈 모델을 이용한 세포내 결핵균 살균력에 관한 연구)

  • Cheon, Seon-Hee;Song, Ho-Yeon;Lee, Eun-Hee;Oh, Hee-Jung;Kang, In-Sook;Cho, Ji-Yoon;Hong, Young-Sun
    • Tuberculosis and Respiratory Diseases
    • /
    • v.53 no.5
    • /
    • pp.497-509
    • /
    • 2002
  • Background : The mechanisms through which cellular activation results in intracellular mycobacterial killing is only partially understood. However, in vitro studies of human immunity to Mycobacterium tuberculosis have been largely modeled on the work reported by Crowle, which is complicated by several factors. The whole blood culture is simple and allows the simultaneous analysis of the relationship between bacterial killing and the effect of effector cells and humoral factors. In this study, we attempted to determine the extent to which M. tuberculosis is killed in a human whole blood culture and to explore the role of the host and microbial factor in this process. Methods : The PPD positive subject were compared to the umbilical cord blood and patients with tuberculosis, diabetes and lung cancer. The culture is performed using heparinized whole blood diluted with a culture medium and infected with a low number of M. avium or M. tuberculosis $H_{37}Ra$ for 4 days by rotating the culture in a $37^{\circ}C$, 5% $CO_2$ incubator. In some experiments, methlprednisolone- or pentoxifyline were used to inhibit the immune response. To assess the role of the T-cell subsets, CD4+, CD8+ T-cells or both were removed from the blood using magnetic beads. The ${\Delta}$ log killing ratio was defined using a CFU assay as the difference in the log number of viable organisms in the completed culture compared to the inoculum. Results : 1. A trend was noted toward the improved killing of mycobacteria in PPD+ subjects comparing to the umbilical cord blood but there was no specific difference in the patients with tuberculosis, diabetes and lung cancer. 2. Methylprednisolone and pentoxifyline adversely affected the killing in the PPD+ subjects umbilical cord blood and patients with tuberculosis. 3. The deletion of CD4+ or CD8+ T-lymphocytes adversely affected the killing of M. avium and M. tuberculosis $H_{37}Ra$ by PPD+ subjects. Deletion of both cell types had an additive effect, particularly in M. tuberculosis $H_{37}Ra$. 4. A significantly improved mycobacterial killing was noted after chemotherapy in patients with tuberculosis and the ${\Delta}$ logKR continuously decreased in a 3 and 4 days of whole blood culture. Conclusion : The in vitro bactericidal assay by human whole blood culture model was settled using a CFU assay. However, the host immunity to M. tuberculosis was not apparent in the human whole blood culture bactericidal assay, and patients with tuberculosis showed markedly improved bacterial killing after anti-tuberculous chemotherapy compared to before. The simplicity of a whole blood culture facilitates its inclusion in a clinical trial and it may have a potential role as a surrogate marker in a TB vaccine trial.

Detecting the Climate Factors related to Dry Matter Yield of Whole Crop Maize (사일리지용 옥수수의 건물수량에 영향을 미치는 기후요인 탐색)

  • Peng, Jing-lun;Kim, Moon-ju;Kim, Young-ju;Jo, Mu-hwan;Nejad, Jalil Ghassemi;Lee, Bae-hun;Ji, Do-hyeon;Kim, Ji-yung;Oh, Seung-min;Kim, Byong-wan;Kim, Kyung-dae;So, Min-jeong;Park, Hyung-soo;Sung, Kyung-il
    • Korean Journal of Agricultural and Forest Meteorology
    • /
    • v.17 no.3
    • /
    • pp.261-269
    • /
    • 2015
  • The purpose of this research is to identify the significance of climate factors related to the significance of change of dry matter yield (DMY) of whole crop maize (WCM) by year through the exploratory data analysis. The data (124 varieties; n=993 in 7 provinces) was prepared after deletion and modification of the insufficient and repetitive data from the results (124 varieties; n=1027 in 7 provinces) of import adaptation experiment done by National Agricultural Cooperation Federation. WCM was classified into early-maturity (25 varieties, n=200), mid-maturity (40 varieties, n=409), late-maturity (27 varieties, n=234) and others (32 varieties, n=150) based on relative maturity and days to silking. For determining climate factors, 6 weather variables were generated using weather data. For detecting DMY and climate factors, SPSS21.0 was used for operating descriptive statistics and Shapiro-Wilk test. Mean DMY by year was classified into upper and lower groups, and a statistically significant difference in DMY was found between two groups (p<0.05). To find the reasons of significant difference between two groups, after statistics analysis of the climate variables, it was found that Seeding-Harvesting Accumulated Growing Degree Days (SHAGDD), Seeding-Harvesting Precipitation (SHP) and Seeding-Harvesting Hour of sunshine (SHH) were significantly different between two groups (p<0.05), whereas Seeding-Harvesting number of Days with Precipitation (SHDP) had no significant effects on DMY (p>0.05). These results indicate that the SHAGDD, SHP and SHH are related to DMY of WCM, but the comparison of R2 among three variables (SHAGDD, SHP and SHH) couldn't be obtained which is needed to be done by regression analysis as well as the prediction model of DMY in the future study.

Chromosome Analysis from Papillary Carcinoma and Nodular Hyperplasia of the Thyroid Gland (결절성 갑상선종과 유두성 갑상선암의 염색체 분석)

  • Hwhang Dae-Won;Chung Ki-Yong;Kang Joong-Shin;Kim Hong-Tae;Chang Sung-Ik
    • Korean Journal of Head & Neck Oncology
    • /
    • v.9 no.1
    • /
    • pp.25-32
    • /
    • 1993
  • The nodular hyperplasia of the thyroid is a common thyriod disease. Nodular hyperplasia does rarely progress to thyroid cancer. The differentiation of a nodular hyperplasia from a neoplasm may be simple or difficult, both clinically and anatomically. The papillary carcinoma of the thyroid is the most common type of thyroid malignancies. There were few studies about cytogenetic observation in thyroid cancer. But only one case of banding observation in nodular hyperplasia have been reported. In order to compare the chromosomal changes in the thyroid cancer and the noncancerous thyroid disease, we performed cytogenetic analysis in two papillary carcinoma and two nodular hyperplasia after cell culture. The chromosomal pattern of the nodular hyperplasia found was very heterogenous but no clonal abnormaly in both cases was observed. Case I : A modal chromosomal number was in 42-46 range. Chromosome 8, 19, 21. 22 were commonly lost. 9 structural anomalities among 51 analysed cells were observed but they were not clonal. Case II: A modal chromosomal number was 43. Chromosome 17 and 19 were commonly lossed. Common cytogenetic characters of this two nodular hyperplasia are hypodiploidity and very heterogenous chromosomal pattern. The result about the papillary carcinoma are as follow. In one case some numerical and structural chromosomal changes were observed. But they were not clonal abnormality. In another case the chromosomal pattern found was very heterogenous with a clonal abnormality of del(11)(q23). The modal number was 46. The del(11)(q23) a chromosomal change in papillary carcinoma of the thyroid have previously been reported(Eva Olah et al. 1989). We suggest that 11q deletion may be important role to pathogenesis of papillary carcinoma of the thyroid. According to this results, we could not find out specific differences about chromosomal changes and any relationship between the papillary carcinoma and the nodular hyperplasia.

  • PDF

Chromosomal analyses of 4,500 cases of the peripheral blood : An experience in a single hospital for 25 years (말초혈액을 이용한 핵형 분석 4,500례 : 단일기관에서의 25년간의 경험)

  • Seo, Hye-Eun;Lee, Ji Hye;Kim, Ji Yoon;Lee, Dong Ha;Lee, Heung Kyo;Lee, Kun Soo
    • Clinical and Experimental Pediatrics
    • /
    • v.50 no.9
    • /
    • pp.875-881
    • /
    • 2007
  • Purpose : Chromosome analysis is important in genetic study and genetic counseling. This study was performed to evaluate the type and incidence of chromosome abnormalities in a single hospital for 25 years. Methods : Chromosome analyses were performed on peripheral blood lymphocytes, obtained from 4,856 patients with suspected chromosomal aberrations, referred to cytogenetic laboratory in Department of Pediatrics, Kyungpook National University Hospital from May 1981 to October 2005. Results : We analyzed 4,567 cases. Children were 3,014 cases (66.0%) and adult were 1,553 cases (34.0 %). The most common purpose of the chromosomal analysis was growth and developmental abnormality in children and infertility in adults. Total chromosomal aberration rate was 16.9% (770/4,567). Among those cases, the numerical abnormalities were 12.2% (558 cases), the structural abnormalities were 4.1% (187 cases), and others were 0.5% (25 cases). The relative frequencies of autosomal abnormalities were 6.4% (294 cases) in Down syndrome; 0.2% (7 cases) in Edwards syndrome; 0.1% (4 cases) in Patau syndrome; 0.2% (10 cases) in other abnormalities, of sex chromosome, 2.9% (131 cases) in Klinefelter syndrome; 2.2% (99 cases) in Turner syndrome; 0.2% (8 cases) in 47, XXX; 0.1% (3 cases) in 47, XYY. Among the structural abnormalities, translocation was 1.8% (84 cases), inversion was 0.8% (37 cases), deletion was 0.4% (17 cases), and insertion was 0.3% (13 cases), in order of frequency. Conclusion : In this study, the type, incidence and distribution of cytogenetic abnormalities by karyotype were reviewed. We hope that our study could be used as a basic information on the diagnosis, treatment and genetic counseling for chromosome abnormalities in Korea.

Identification and Chromosomal Reshuffling Patterns of Soybean Cultivars Bred in Gangwon-do using 202 InDel Markers Specific to Variation Blocks (변이영역 특이 202개 InDel 마커를 이용한 강원도 육성 콩 품종의 판별 및 염색체 재조합 양상 구명)

  • Sohn, Hwang-Bae;Song, Yun-Ho;Kim, Su-Jeong;Hong, Su-Young;Kim, Ki-Deog;Koo, Bon-Cheol;Kim, Yul-Ho
    • Korean Journal of Breeding Science
    • /
    • v.50 no.4
    • /
    • pp.396-405
    • /
    • 2018
  • The areas of soybean (Glycine max (L.) Merrill) cultivation in Gangwon-do have increased due to the growing demand for well-being foods. The soybean barcode system is a useful tool for cultivar identification and diversity analysis, which could be used in the seed production system for soybean cultivars. We genotyped cultivars using 202 insertion and deletion (InDel) markers specific to dense variation blocks (dVBs), and examined their ability to identify cultivars and analyze diversity by comparison to the database in the soybean barcode system. The genetic homology of "Cheonga," "Gichan," "Daewang," "Haesal," and "Gangil" to the 147 accessions was lower than 81.2%, demonstrating that these barcodes have potentiality in cultivar identification. Diversity analysis of one hundred and fifty-three soybean cultivars revealed four subgroups and one admixture (major allele frequency <0.6). Among the accessions, "Heugcheong," "Hoban," and "Cheonga" were included in subgroup 1 and "Gichan," "Daewang," "Haesal," and "Gangil" in the admixture. The genetic regions of subgroups 3 and 4 in the admixture were reshuffled for early maturity and environmental tolerance, respectively, suggesting that soybean accessions with new dVB types should be developed to improve the value of soybean products to the end user. These results indicated that the two-dimensional barcodes of soybean cultivars enable not only genetic identification, but also management of genetic resources through diversity analysis.

Legal Issues Regarding the Civil Injunction Against the Drone Flight (토지 상공에서의 드론의 비행자유에 대한 제한과 법률적 쟁점)

  • Shin, Hong-Kyun
    • The Korean Journal of Air & Space Law and Policy
    • /
    • v.35 no.2
    • /
    • pp.75-111
    • /
    • 2020
  • The civilian drone world has evolved in recent years from one dominated by hobbyists to growing involvement by companies seeking to profit from unmanned flight in everything from infrastructure inspections to drone deliveries that are already subject to regulations. Drone flight under the property right relation with the land owner would be deemed legal on the condition that expeditious and innocent passage of drone flight over the land be assured. The United Nations Convention on the Law of the Sea (UNCLOS) enshrines the concept of innocent passage through a coastal state's territorial sea. Passage is innocent so long as it is not prejudicial to the peace, good order or security of the coastal state. A vessel in innocent passage may traverse the coastal state's territorial sea continuously and expeditiously, not stopping or anchoring except in force majeure situations. However, the disturbances caused by drone flight may be removed, which is defined as infringement against the constitutional interest of personal rights. For example, aggressive infringement against privacy and personal freedom may be committed by drone more easily than ever before, and than other means. The cost-benefit analysis, however, has been recognjzed as effective criteria regarding the removal of disturbances or injunction decision. Applying that analysis, the civil action against such infringement may not find suitable basis for making a good case. Because the removal of such infringement through civil actions may result in only the deletion of journal article. The injunction of drone flight before taking the information would not be obtainable through civil action, Therefore, more detailed and meticulous regulation and criteria in public law domain may be preferable than civil action, at present time. It may be suitable for legal stability and drone industry to set up the detailed public regulations restricting the free flight of drone capable of acquiring visual information amounting to the infrigement against the right of personal information security.

Clinical Characteristics and Genetic Analysis of Prader-Willi Syndrome (Prader-Willi 증후군의 임상 양상 및 유전학적 진단에 관한 고찰)

  • Lee, Ji Eun;Moon, Kwang Bin;Hwang, Jong Hee;Kwon, Eun Kyung;Kim, Sun Hee;Kim, Jong Won;Jin, Dong Kyu
    • Clinical and Experimental Pediatrics
    • /
    • v.45 no.9
    • /
    • pp.1126-1133
    • /
    • 2002
  • Purpose : Prader-Willi syndrome(PWS) is a complex disorder affecting multisystems with characteristic clinical features. Its genetic basis is an expression defect in the paternally derived chromosome 15q11-q13. We analyzed the clinical features and genetic basis of PWS patients for early detection and treatment. Methods : We retrospectively studied 24 patients with PWS in Department of Pediatrics, Samsung Medical Center, from September 1997 to September 2001. We performed cytogenetic and molecular genetic techniques using high resolution GTG banding techniques, fluorescent in situ hybridization and methylation-specific PCR for CpG island of SNRPN gene region. Results : The average birth weight of PWS patients was $2.67{\pm}0.47kg$ and median age at diagnosis was 1.3 years. The average height and weight of PWS patients under one year at diagnostic time were located in a 3-10 percentile relatively, and a rapid weight gain was seen between two and six years. Feeding problems in infancy and neonatal hypotonia were the two most consistently positive major criteria in over 95% of the patients. In 18 of the 24 cases(75%), deletion of chromosome 15q11-q13 was demonstrated and one case among 18 had an unbalanced 14;15 translocation. In four cases without any cytogenetic abnormality, it may be considered as maternal uniparental disomy and the rest showed another findings. Conclusion : We suggest diagnostic testing for PWS in all infants/neonates with unexplained feeding problems and hypotonia. It is necessary for clinically suspicious patients to undergo an early genetic test. As the genetic basis of PWS was heterogenous and complex, further study is required.