• Title/Summary/Keyword: genetic test

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Characterization of broad bean wilt virus 2 isolated from Perilla frutescens in Korea (국내 잎들깨에서 발생한 잠두위조바이러스2의 특성 구명)

  • Hyun-Sun Kim;Hee-Seong Byun;You-Ji Choi;Hyun-Yong Choi;Jang-Kyun Seo;Hong-Soo Choi;Bong-Choon Lee;Mikyeong Kim;Hae-Ryun Kwak
    • Korean Journal of Environmental Biology
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    • v.41 no.1
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    • pp.1-13
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    • 2023
  • Broad bean wilt virus 2 (BBWV2) is a species in the genus Fabavirus and family Secoviridae, which is transmitted by aphids and has a wide host range. The BBWV2 genome is composed of two single-stranded, positive-sense RNAs, RNA-1 and RNA-2. The representative symptoms of BBWV2 are mosaic, mottle, vein clearing, wilt, and stunting on leaves, and these symptoms cause economic damage to various crops. In 2019, Perilla fructescens leaves with mosaic and yellowing symptoms were found in Geumsan, South Korea. Reverse-transcription polymerase chain reaction (RT-PCR) was performed with specific primers for 10 reported viruses, including BBWV2, to identify the causal virus, and the results were positive for BBWV2. To characterize a BBWV2 isolate (BBWV2-GS-PF) from symptomatic P. fructescens, genetic analysis and pathogenicity tests were performed. The complete genomic sequences of RNA-1 and RNA-2 of BBWV2-GS-PF were phylogenetically distant to the previously reported BBWV2 isolates, with relatively low nucleotide sequence similarities of 76-80%. In the pathogenicity test, unlike most BBWV2 isolates with mild mosaic or mosaic symptoms in peppers, the BBWV2-GS-PF isolate showed typical ring spot symptoms. Considering these results, the BBWV2-GS-PF isolate from P. fructescens could be classified as a new strain of BBWV2.

Epistatic Interaction Analysis of Two Dull Genes, wx-mq and du1, Affecting Amylose Content Using Nearly Isogenic Lines in Rice

  • Ju-Won Kang;Ji-Yoon Lee;Gi-Un Seong;Youngho Kwon;So-Myeong Lee;Dong Jin Shin;Sais-Beul Lee;Hyunnggon Mang;Dong Soo Park;Jong-Hee Lee;Jun-Hyeon Cho;Gi-Won Oh
    • Proceedings of the Korean Society of Crop Science Conference
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    • 2022.10a
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    • pp.267-267
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    • 2022
  • Glutinous rice is a key grain quality trait occupying an important part during rice processing in most rice growing areas. Amylose content (AC) of rice determine eating quality which is one of the major traits in rice breeding program. In this study, a gene pyramiding approach was used to introduce two dull genes, responsible for low amylose contents, for glutinous rice breeding using marker assisted selection (MAS). Two dull genes were located on chromosome 6 (wx-mq, AC: 12.7 %) and chromosome 10 (du1, AC: 10.3%), respectively. To test whether these two dull genes have an epistatic interaction, we developed an F2 population by crossing two nearly isogenic lines(NILs) harboring wx-mq and du1. Gene based marker and KASP marker were used to select NILs(NIL-nor, NIL-wxmq, NIL-du1, and NIL-wxmq/du1) from the F2 population. A two-way ANOVA revealed an epistatic interaction between the two genes in the F2 population. The mean of Amylose contents for NIL-nor, NIL-wxwq, NIL-(du1, and NIL-wxmq/du1 were 17.3%, 12.5%, 9.7%, and 7.2%, respectively. This interaction was confirmed by an analysis of NILs indicating that both genes are involved in the same genetic mechanism controlling amylose contents. This result will be useful for rice breeding related to amylose content.

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Comparison of Resistance to Fowl Typhoid among Crossbreed (산란계 합성종의 가금티푸스 저항성 비교 연구)

  • 김기석;이영주;강민수;한성욱;오봉국
    • Korean Journal of Poultry Science
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    • v.29 no.1
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    • pp.59-75
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    • 2002
  • The present study was conducted to compare the disease resistance to fowl typhoid among White Leghorn (WL) known as possessing greater genetic resistance to Salmonella, Rhode Island Red (RIR) susceptible to the disease and their mating crossbreed, WL ${\times}$RIR. Also, it was carried out to compare fowl typhoid-resistance among Hyline white${\times}$Hyline brown(HwHb), Hw${\times}$lsa brown(Hwlb), Isa white${\times}$lb(Iwlb), Iw${\times}$ Hb(IwHb) and Ib ${\times}$ Iw(IbIw) in order to select crossbreed chickens which have disease resistance to fowl typhoid and simultaneously produce the brown eggs which our domestic consummers prefer There was no death of WL chickens challenged with Sal. gallinarum at each 2, 5 and 8 wk of age, while average 86.2 to 64.1% of RIR chickens tested died at the same challenge age during the test period of 2 weeks. Their maiting crossbreed, WL ${\times}$ RIR were intermediate between the two breeds. weight gains of tested chickens were significantly higher in WL and WL ${\times}$RIR without difference between them than RIR. In recovery rate of tested strain of Sal. gallinarum from braun, heart, fiver, spleen and cecum of chickens challenged, WL ${\times}$RIR fell between the other two breeds, with somewhat higher rate then WL but much lower then RIR. In the disease resistance determination test using HwHb, Hwlb, Iwlb, IwHb and IbIw$.$ crossbreed chickens experimentally infected with Sal. gallinarum, it was recognized that all of crossbreeds tested developed marked resistance to fowl typhoid, based on the results judged by the measurement parameters of mortality, weight gain, recovery rate of challenged strain of bacteria, and positive rate of agglutination antibody, and HwHb had a tittle higher disease resistance then ethers.

Clinical Manifestations and Gene Analysis of Patients with Benign Hyperphenylalaninemia (양성 고페닐알라닌혈증 환자에 대한 임상적 고찰과 유전자 분석)

  • Lee, Jeongeun;Lee, Jeongho;Lee, Dong Hwan
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.16 no.2
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    • pp.79-85
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    • 2016
  • Purpose: This study aimed to analyze genetic mutations, clinical manifestations, and treatment of patients with benign HPA in Korea. Methods: This case series study involved ten HPA patients who were referred to our hospital because of high phenylalanine concentration. We investigated their demographic features, clinical manifestations, and mutations of the PAH gene through direct DNA sequencing. Results: Among ten patients with benign HPA, two pairs of patients were related (father-daughter, mother-daughter relationship) cases, and all of them showed no specific clinical manifestations or notable past history. Their plasma phenylalanine levels ranged between 1.2 and 4.2 mg/dL. In the tetrahydrobiopterin (BH4) loading test, all patients were nonresponsive to BH4. In the confirmation test of PAH mutation analysis, we identified eleven different alleles out of twelve. The most common allele was R53H (c.158G> A). In addition, two novel PAH gene mutations, V423A (c.1268T>C) and V51A (c.152T>C), were identified. Although the patients did not receive any pharmacologic treatment or continuous phenylalanine restriction dietary therapy, their neurocognitive development was normal. Moreover, on serial outpatient follow-up tests, all patients maintained phenylalanine levels below 6 mg/dL. Conclusion: This study is the first in Korea to analyze benign HPA patients. All patients with benign HPA could maintain phenylalanine levels below 6 mg/dL with normal neurocognitive development, without continuous therapy. Therefore, performing mutation analysis and distinguishing benign HPA from phenylketonuria (PKU) are important to help improve life quality in patients with benign HPA by avoiding unnecessary lifelong therapy.

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Galactosemia Detected by Neonatal Screening Test (신생아 선별검사에 의해 발견된 갈락토스혈증에 대한 고찰)

  • Park, Il Sung;Cho, Hye Jung;Lee, Dong Hwan;Song, Jung Hwan
    • Clinical and Experimental Pediatrics
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    • v.46 no.5
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    • pp.440-446
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    • 2003
  • Purpose : The genetic disturbance of galactosemia is expressed as a cellular deficiency of either galactose-1-phosphate uridyltransferase(GALT) or galactokinase(GALK) or UDP galactose 4-epimerase(GALE). To find-out the pattern of galactosemia in Korea, we retrospectively analyzed cases of galactosemia detected by neonatal screening program. Methods : We analyzed medical records of patients who visited Soonchunhyang University Hospital at age of 1 month after showing abnormalities in neonatal screening of galactosemia. For accurate diagnosis, galactose was measured by enzyme immunoassay(EIA) and fluorophotometer, also galactose-1-phosphate by fluorophotometer. Enzyme activities of GALK, GALT and GALE in RBC and galactose-1-phosphate were measured by radioisotope assay(RIA). Beutler test were done. Patients went on a lactose-free diet and follow-up tests for galactose, galactose-1-phosphate level and enzyme activity were performed. Results : 10 patients(male : 6, female : 4) were diagnosed as galactosemia. Two patients had GALK deficiency and two had GALT deficiency. Six were GALE deficient showing the largest number. In two patients with GALK deficiency, GALT and GALE activities were normal but GALK activities showed respectively reduced activity. For GALT deficiency, two patients had low GALT activity in RBC and showed genotype of Duarte 2/G(galactosemia) in DNA analysis. In one patient, GALT activity was normal. Three patients seemed to be heterozygote state of GALE deficiency according to GALE activity levels. Four patients showed GALK hyperactivity. Conclusion : GALE deficiency provided the highest number. After lactose-free diet, galactose and galactose-1-phosphate were normaly maintained. Neonatal screening on galactosemia is essential for preventing life-threatening symptoms and an accurate diagnosis is needed for finding out the type of galactosemia which is important for prognosis.

Relationships of Changing Social Atmosphere, Lifestyle and Bone Mineral Density in College Students (대학생의 골밀도와 사회분위기 및 생활습관과의 관계)

  • Lee, In-Ja;Ko, Yo-Han;Kim, Chung-Kyung;Kim, Hee-Sol;Park, Da-Jeong;Yoon, Hyeo-Min;Jeong, Yu-Jin
    • Journal of radiological science and technology
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    • v.36 no.4
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    • pp.263-271
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    • 2013
  • The decrease of bone mineral density gives rise to the outbreak of osteopenia and makes the possibility of a bone fracture. It makes health problems in society. It's very important to prevent osteopenia in advance. Also it's critical to prevent and take care of it in adolescent because it's the most developing period comparing to middle ages because that bone mineral density decreases. There are genetic, physical and enviromental factors that affect bone mineral density. Recently, a lifestyle and eating habits are also changing as the society atmosphere is gradually doing. This study have shown that 134 women and 75 men was chosen and responded to the survey of measuring bone mineral density and investigating a lifestyle. The measure of bone mineral density is to use Dual energy X-ray absorptiometry(DEXA) and check femoral neck and lumbar spine. Also questionaries was required to pre-made survey about their lifestyles. Analysis of data was done with SPSS program. Multiple regression analysis was used for the relation of bone mineral density, the heigths and BMI. The sample of Groups are checked for drinking, smoking or excercising about differences by t-test. The results of the experiments were; first, there is statistically significant differences in the comparisons between BMD and BMD. But there isn't any special correlation between drinking, smoking and BMD. Secondly, bone mineral density becomes low related to an intake of caffeine. Particularly, this is statically significant on women. Also there is statically significant correlation between femoral neck and quantity of motion for both men and women. Third, there is significant relation between eating habits and bone mineral density on women's lumbar spine. However, there is no significant relation between men's lumbar spine and women's one. Therefore, to prevent osteopenia, it's good to abstain from intaking caffeine within an hour after a meal. In addition, it's helpful to walk or run regularly and have a balanced meal.

Review: Distribution, Lactose Malabsorption, and Alleviation Strategies of Lactose Intolerance (유당불내증(Lactose Intolerance)의 발생 원인과 경감 방안에 대한 고찰)

  • Yoon, Sung-Sik
    • Journal of Dairy Science and Biotechnology
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    • v.27 no.2
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    • pp.55-62
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    • 2009
  • Milk is called an almost complete food in terms of nutrition, especially for the younger generations because it contains a number of nutrients required for growth and development. Lactose intolerance is defined as a malabsorption of lactose in the intestine with some typical symptoms of abdominal pains and bloating, and occurred at 75% of global populations, which hampers milk consumption worldwide. Lacks of milk consumption in the underdeveloped countries frequently lead to many nutrients deficiencies, so that diseases including osteoporosis, hypertension, and colon cancer are more prevalent in the recent days. Lactose in foods needs to be hydrolyzed prior to intestinal absorption. The hydrolytic enzyme responsible for splitting lactose into its monomeric forms, glucose and galactose, is called as lactase or $\beta$-galactosidase. The former is primarily used as blood sugar and energy source and the latter used in glycolipid synthesis of brain tissues in infants. Lactose is clinically diagnosed with the breath hydrogen production test as well as intestinal biopsy. Reportedly, symptoms of lactose intolerance are widely prevalent at 25% of Europeans, 50 to 80% of Hispanics, South Indians, Africans, and Jews, almost 100% of Asians and native Americans. For the adults, phenotype of lactase persistence, which is able to hydrolyse lactose, is more common in the northern Europeans, but in the other area lactase non-persistence or adult-type hypolactasia is dominant. Genetic analysis on human lactase gene continued that lactase persistence was closely related to the err site of 1390 single nucleotide polymorphism from the 5'-end. To alleviate severity of lactose intolerance symptoms, some eating patterns including drinking milk a single cup or less, consumption along with other foods, whole milk rather than skimmed milk, and drink with live yogurt cultures, are highly recommended for the lactose maldigesters. Also, delay of gastric emptying is effective to avoid the symptoms from lactose intolerance. Frequency of lactose intolerance with conventional diagnosis is thought overestimated mainly because the subjects are exposed to too much lactose of 50 g rather than a single serving amount. Thus simple and accurate diagnostic method for lactose intolerance need to be established. It is thought that fermented milk products and low- or free lactose milks help improve currently stagnant milk consumption due to lactose intolerance which contributes to major barrier in milk marketing especially in Asian countries.

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A study on the smile of Korean Youth compared with twenty years ago (20년전과 비교한 한국청년의 미소 변화에 관한 연구)

  • Beom, Seung-Gyun;Jung, Ji-Hye;Kim, Tae-Young;Lee, Kyung-Eun;Dong, Jin-Keun
    • The Journal of Korean Academy of Prosthodontics
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    • v.50 no.3
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    • pp.162-168
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    • 2012
  • Purpose: Teeth are generally exposed when people smiling. Moreover, the exposed teeth and soft tissue when smiling becomes an important guideline for esthetically prosthetic restoration. This research is to compare and find out differences of Korean young men's smile living in presence and twenty years ago. Materials and methods: Subjects, 100 young men (50 male and 50 female), were required about several aspects; normally developed physical condition, no psychological or genetic disorders, a fine face with no loss of teeth, no experience in orthodontic or prosthetic treatment, relatively normal occlusion, aged between 20-29. The photos of the subject at rest position and front face when fully smiled were taken three times. 100 photos (50 male and 50 female) were chosen at random from the 240 university students' smile photos taken by Yoon and his colleagues in 1991. By Hulsey's method of measuring smile, several factors; the change of upper lip curvature, the change of the relation between the upper lip and teeth, parallelism between Mx. incisor and lower lip, contact relation between Mx. incisor and lower lip and teeth displayed in a smile, were measured and analyzed. Meanwhile, ten dentists assessed aesthetic evaluation about men and women's smile for twice and recorded and compared smile score. The -test (P<.05) was used to compare the measured value. The difference of smile score was analyzed by t-test (P<.05). Results: The smile score calculated in 2011 (60.22) was higher than that of 1991 (52.80). Among five measurement categories, the noticeable difference was distinguished from two factors; the change of upper lip curvature and contact relation between Mx. incisor and lower lip. Conclusion: The Korean young men's smile has been considerably improved for twenty years. And it is found that the change of upper lip curvature plays an important role, that is, the smile formed with an ascended labial commissure has been increased significantly.

Genotype and clinical features of Korean patients with methylmalonic aciduria and propionic aciduria (한국인 메틸말로닌산뇨증 및 프로피온산뇨증의 유전자형과 임상 양상)

  • Lee, Eun Hye;Ko, Jung Min;Kim, Jae-Min;Yoo, Han-Wook
    • Clinical and Experimental Pediatrics
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    • v.51 no.9
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    • pp.964-970
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    • 2008
  • Purpose : Methylmalonic aciduria (MMA) and propionic aciduria (PA) are inborn errors in the catabolism of branched-chain amino acids. The study was undertaken to investigate the genotypes and clinical features of Korean patients with MMA and PA. Methods : This study examined 12 patients with MMA and eight with PA. We analyzed various clinical features, laboratory findings, treatments, and neuro-developmental outcomes. Diagnoses were based on the presence of characteristic compounds detected by amino acid analysis in serum and organic acid analysis in urine. Mutation analysis was performed in the genes of MUT, MMAA, MMAB, and MMACHC for MMA and PCCA and PCCB for PA. Results : Among the 20 patients, six patients were diagnosed before one month of age and nine patients were diagnosed after the newborn period. Five patients were diagnosed via a neonatal screening test. Patients with early-onset forms had more severe illness at presentation and generally poor outcomes. A favorable outcome was obtained in 55% patients; most of them were of a late-onset type or diagnosed by neonatal mass screening test without symptoms. Genotypes were confirmed in all patients with MMA. We detected 11 different mutations by MUT gene analysis in 10 patients, and three different mutations in MMACHC genes in two patients. PCCA and PCCB gene mutations were identified in 14 of the 16 alleles, in eight patients with PA. Conclusion : Organic aciduria is a fatal disease; however, better outcomes are expected whenever early diagnosis and prompt management are made possible. Mutation analysis is useful for confirming diagnoses and planning management strategies.

A Study on the Relationship between the Experience of Sanhujori, the Traditional Postpartal Care in Korea and Present Health Status of Chronic Arthritis Female Patient (만성관절염 여성 환자의 산후조리 경험과 건강상태와의 관계)

  • Yoo, Eun-Kwang;Lee, Sun-Hyae;Kim, Myoung-Hee
    • Women's Health Nursing
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    • v.4 no.2
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    • pp.217-230
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    • 1998
  • The purpose of this descriptive correlational study was to define the relationship between the experience of Sanhuujori, Korean traditional non-professional postpartal care after delivery and abortion and present health status of chronic arthritis female patient who visited to outpatient clinic of rheumatic internal medicine at a hospital located in Seoul, Korea. A convenience sample of 64 women who orally agreed to be a participant and data were collected form October 1996 to May, 1997 for sis months by way of interview with semistructured questionnaire. The data were analyzed by the SPSS pc program using t-test, ANOVA and Scheffe test as a post hoc and Pearson Correlation Coefficient. The results of the study were as follows ; Mean age of participants was 53.2 years and mean number of children was 3.1. Mean frequency of abortion was 2.1 times per woman. Seventy four percentage of respondents did not have Sanhujori after abortion. The mean period of Sanhujori after delivery was 17.7, 15.2, 13.8 days from the first child to third child and shorter than that of general woman such as 20.0, 19.0, 17.3 days in the previous study. On the subjective evaluation of whether the women did Sanhujori well or not, the rate of 'did Sanhujori wrongly' was the highest rank in each child where as general woman 'did Sanhujori well' at the first child, 'moderate' at the second and third child and 'did Sanhujori wrongly' at the 4th and fifth child. The health status implies both subjective health status women perceived and the rate of complaints of physical symptom distress women are experiencing presently. The respondents of 82.5% perceived them as unhealthy or sick and 68.9% of women complained more than two symptoms. Mean number of physical symptom distress women complained was 2.33. The main sites of physical symptom distress were upper & lower extremities 69.1% including knee and hand, whole body 19.1%, neck 3.7%, waist & shoulders 2.7% respectively. The characteristics of the symptoms were mostly pain 60%, swelling 19.8%, rigidity & deformity 7.9% respectively, sensation of heat 6.8% and weakness 1.7%. Women perceived the etiology of the chronic arthritis as stress 25.8%, 'did Sanhujori wrongly' & overwork 23.4% respectively, genetic 12.9%, malnutrition, 4.8%, and aging process 3.2%. There were significant positive correlation between subjective health status and the period of Sanhujori after delivery of the second child(r=-0.22) and negative correlation with the number of child at the level of 5% of significance statistically(r=0.27). There were significant negative correlation between the rate of complaints of physical symptom distress and the subjective evaluation whether she did Sanhujori well or not at the level of 5% of significance statistically(r=-0.23). And the rate of complaints of physical symptom distress in the group of women who experienced abortion was significantly higher than that of women who did not experience it at the level of 5% significance statistically(t=2.00) In conclusion, this finding reconfirmed the possible relationship between health status of chronic arthritis female patient and the experience of Sanhujori after delivery & abortion. It provides a challenge to the professional care givers to research further on the effects of Sanhujori on the health status, health recovery after abortion or delivery from the various aspects through the crosssectional and longitudinal research for the refinement of the reality of not only as cultural phenomenon but as conceptual model for the appropriateness of intervention and quality of care for desirable health outcomes.

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