• Title/Summary/Keyword: Genetic correlation

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Association between MIR149 SNPs and Intrafamilial Phenotypic Variations of Charcot-Marie-Tooth Disease Type 1A (샤르코-마리-투스병 1A형(CMT1A)의 가족내 표현형적 이질성과 MIR149 SNP에 대한 연관성 연구)

  • Choi, Yu Jin;Lee, Ah Jin;Nam, Soo Hyun;Choi, Byung-Ok;Chung, Ki Wha
    • Journal of Life Science
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    • v.29 no.7
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    • pp.800-808
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    • 2019
  • Charcot-Marie-Tooth disease (CMT) is a group of rare peripheral neuropathies characterized by progressive muscle weakness and atrophy and areflexia in the upper and lower extremities. The most common subtype of CMT is CMT1A, which is caused by a tandem duplication of the PMP22 gene in the 17p12 region. Patients with CMT1A show a loose genotype-phenotype correlation, which suggests the existence of secondary genetic or association factors. Recently, polymorphisms of rs71428439 (n.83A>G) and rs2292832 (n.86T>C) in the MIR149 have been reported to be associated with late onset and mild phenotypic CMT1A severity. The aim of this study was to examine the intrafamilial heterogeneities of clinical phenotypes according to the genotypes of these two SNPs in MIR149. For this study, we selected 6 large CMT1A families who showed a wide range of phenotypic variation. This study suggested that both SNPs were related to the onset age and severity in the dominant model. In particular, the AG+GG (n.83A>G) and TC+CC genotypes (n.86T>C) were associated to late onset and mild symptoms. Motor nerve conduction velocity (MNCV) was not related to the MIR149 genotypes. These results were consistent with the previous studies. Therefore, we suggest that the rs71428439 and rs2292832 variants in MIR149 may serve as genetic modifiers of CMT1A intrafamilial phenotypic heterogeneity, as they have a role in the unrelated patients. This is the first study to show an association using large families with variable clinical CMT1A phenotypes. The results will be helpful in the molecular diagnosis and treatment of patients with CMT1A.

The Variation of Natural Population of Pinus densiflora S. et Z. in Korea (III) -Genetic Variation of the Progeny Originated from Mt. Chu-wang, An-Myon Island and Mt. O-Dae Populations- (소나무 천연집단(天然集團)의 변이(變異)에 관(關)한 연구(硏究)(III) -주왕산(周王山), 안면도(安眠島), 오대산(五臺山) 소나무집단(集團)의 차대(次代)의 유전변이(遺傳變異)-)

  • Yim, Kyong Bin;Kwon, Ki Won
    • Journal of Korean Society of Forest Science
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    • v.32 no.1
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    • pp.36-63
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    • 1976
  • The purpose of this study is to elucidate the genetic variation of the natural forest of Pinus densiflora. Three natural populations of the species, which are considered to be superior quality phenotypically, were selected. The locations and conditions of the populations are shown in table 1 and 2. The morphological traits of tree and needle and some other characteristics were presented already in our first report of this series in which population and family differences according to observed characteristics were statistically analyzed. Twenty trees were sampled from each populations, i.e., 60 trees in total. During the autumn of 1974, matured cones were collected from each tree and open-pollinated seeds were extracted in laboratory. Immediately after cone collection, in closed condition, the morphological characteristics were measured. Seed and seed-wing dimensions were also studied. In the spring of 1975, the seeds were sown in the experimental tree nursery located in Suweon. And in the April of 1976, the 1-0 seedlings were transplanted according to the predetermined experimental design, randomized block design with three replications. Because of cone setting condition. the number of family from which progenies were raised by populations were not equal. The numbers of family were 20 in population 1. 18 in population 2 and 15 in population 3. Then, each randomized block contained seedlings of 53 families from 3 populations. The present paper is mainly concerned with the variation of some characteristics of cone, seed, needle, growth performance of seedlings, and chlorophyll and monoterpene compositions of needles. The results obtained are summerized as follows. 1. The meteorological data obtained by averaging the records of 30 year period, observed from the nearest station to each location of populations, are shown in Fig. 3, 4, and 5. The distributional pattern of monthly precipitation are quite similar among locations. However, the precipitation density on population 2, Seosan area, during growing season is lower as compared to the other two populations. Population 1. Cheong-song area, and population 3, Pyong-chang area, are located in inland, but population 2 in the western seacoast. The differences on the average monthly air temperatures and the average monthly lowest temperatures among populations can hardly be found. 2. Available information on the each mother trees (families) studied, such as age, stem height, diameter at breast height, clear-bole-length, crown conditions and others are shown in table 6,7, and 8. 3. The measurements of fresh cone weight, length and the widest diameter of cone are given in Tab]e 9. All these traits arc concerned with the highly significant population differences and family differences within population. And the population difference was also found in the cone-index, that is, length-diameter ratio. 4. Seed-wing length and seed-wing width showed the population differences, and the family differences were also found in both characteristics. Not discussed in this paper, however, seed-wing colours and their shapes indicate the specificity which is inherent to individual trees as shown in photo 3 on page 50. The colour and shape are fully the expression of genetic make up of mother tree. The little variations on these traits are resulted from this reason. The significant differences among populations and among families were found in those characteristics, such as 1000-seed weight, seed length, seed width, and seed thickness as shown in table 11. As to all these dimensions, the values arc always larger in population 1 which is younger in age than that of the other two. The population differences evaluated by cone, seed and seed-wing sizes could partly be attributed to the growth vigorousity. 5. The values of correlation between the characteristics of cone and seed are presented in table 12. As shown, the positive correlations between cone diameter and seed-wing width were calculated in all populations studied. The correlation between seed-wing length and seed length was significantly positive in population 1 and 3 but not in population 2, that is, the r-value is so small as 0.002. in the latter. The correlation between cone length and seed-wing length was highly significant in population 1, but not in population 2. 6. Differences among progenies in growth performances, such as 1-0 and 1-1 seedling height and root collar diameter were highly singificant among populations as well as families within population(Table 13.) 7. The heritability values in narrow sense of population characteristics were estimated on the basis of variance components. The values based on seedling height at each age stage of 1-1 and 1-0 ranged from 0.146 to 0.288 and the values of root collar diameter from 0.060 to 0.130. (Table 14). These heritability values varied according to characteristics and seedling ages. Here what must be stated is that, for calculation of heritability values, the variance values of population was divided by the variance value of environment (error) and family and population. The present authors want to add the heritability values based on family level in the coming report. It might be considered that if the tree age is increased in furture, the heritability value is supposed to be altered or lowered. Examining the heritability values studied previously by many authors, in pine group at age of 7 to 15, the values of height growth ranged from 0.2 to 0.4 in general. The values we obtained are further below than these. 8. The correlation between seedling growth and seed characteristics were examined and the values resulted are shown in table 16. Contrary to our hypothetical premise of positive correlation between 1-0 seedling height and seed weight, non-significance on it was found. However, 1-0 seedling height correlated positively with seed length. And significant correlations between 1-0 and 1-1 seedling height are calculated. 9. The numbers of stomata row calculated separately by abaxial and adaxial side showed highly significant differences among populations, but not in serration density. On serration density, the differences among families within population were highly significant. (Table 17) A fact must be noted is that the correlation between stomata row on abaxial side and adaxial side was highly significant in all populations. Non-significances of correlation coefficient between progenies and parents regarding to stomata row on abaxial side were shown in all populations studied.(Table 18). 10. The contents of chhlorophyll b of the needle were a little more than that of chlorophyll a irrespective of the populations examined. The differences of chlorophyll a, b and a plus b contents were highly significant but not among families within populations as shown in table 20. The contents of chlorophyll a and b are presented by individual trees of each populations in table 21. 11. The occurrence of monoterpene components was examined by gas liquid chromatography (Shimazu, GC-1C type) to evaluate the population difference. There are some papers reporting the chemical geography of pines basing upon monoterpene composition. The number of populations studied here is not enough to state this problem. The kinds of monoterpene observed in needle were ${\alpha}$-pinene, camphene, ${\beta}$-pinene, myrcene, limonene, ${\beta}$-phellandrene and terpinolene plus two unknowns. In analysis of monoterpene composition, the number of sample trees varied with population, I.e., 18 families for population 1, 15 for population 2 and 11 for population3. (Table 22, 23 and 24). The histograms(Fig. 6) of 7 components of monoterpene by population show noticeably higher percentages of ${\alpha}$-pinene irrespective of population and ${\beta}$-phellandrene in the next order. The minor Pinus densiflora monoterpene composition of camphene, myrcene, limonene and terpinolene made up less than 10 percent of the portion in general. The average coefficients of variation of ${\alpha}$-pinene and ${\beta}$-phellandrene were 11 percent. On the contrary to this, the average coefficients of variation of camphene, limonene and terpinolene varied from 20 to 30 percent. And the significant differences between populaiton were observed only in myrcene and ${\beta}$-phellandrene. (Table 25).

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Studies on Classification and Genetic Nature of Korean Local Corn Lines (한국(韓國) 재래종(在來種) 옥수수의 계통분류(系統分類) 및 유전적(遺傳的) 특성(特性)에 관(關)한 연구(硏究))

  • Lee, In Sup;Choi, Bong Ho
    • Korean Journal of Agricultural Science
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    • v.9 no.1
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    • pp.396-450
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    • 1982
  • To obtain basic information on the Korean local corn lines a total of 57 lines were selected from 1,000 Korean local collection at Chungnam National University, classified by principal component analysis, and genetic nature was investigated. The results are summarized as follows. 1. There were a great variation in mean values of plant characters of the lines. The mean values of plant characters except for density of kernels varied with types of crossing. All characters except. for tasselling dates were reduced in magnitude when selfed, while those characters were increased when topcrossed. 2. The correlation coefficients among characters studied ranged front 0.99 to -0.59. The correlation coefficients among characters were not greatly changed depending upon types of crosses. 3. In order to classify the lines more effectively, selected 12 plant characters were used to classify 57 local lines by principal component analysis. The first four component could explain 86.4%, 83.4% and 81.1% of the total variations in sibbed lines, selfed lines and topcrossed lines, respectively. 4. Contribution of characters to principal component was high at upper principal components and low at lower principal components. 5. Biological meaning of the principal component and plant types corresponding to the each principal component were explained clearly by the correlation coefficient between principal components and characters. The first principal component appeared to correspond to the size of plant and ear. The second principal component appeared to correspond to the degree of differentiation in organs and the duration of vegetative growing period. But biological meaning of the third and fourth principal components was not clear. 6. The lines were classified into 4 lineal groups by the taxonomic distance. Group I included 52 lines which was 91.2% of total lines, group II 3 lines, group III 1 lines and group IV I lines, respectively. Four groups could be characterized as follows : Group I : early maturity, short-culmed, medium height plant, small ears, medium kernels and medium yielding. Group II : late maturity, medium height plant, small ears, small kernels, prolific ears and higher yielding. Group III : medium maturity, tall-culmed, small ears, small kernels and low yielding. Group IV : medium maturity, tall-calmed, large ears, one ear plant and me yielding. 7. The inbreeding depression varied with plant characters and lines. The characters such as yield, kernel weight per ear, ear weight and plant height showed great degree of inbreeding depression. Group I showed high inbreeding depression in such characters as 100 kernel weight, leaf number, plant height and days to tasselling, while group II showed high inbreeding depression in other plant characters. 8. Heterosis of plant characters varied also with lines. The ear weight, kernel weight per ear, yield, 100 kernel weight, and plant height were some of the plant characters showing high heterosis. Group II showed high values of heterosis in such characters as ear length, ear diameter, ear weight, kernel weight per ear, 100 kernel weight, and leaf length, while group I was high in heterosis in other plant characters. 9. The degree of homozgosity was highest in ear weight (79.1%) and lowest in ear number per plant (-21%). Group II showed higher degree of homozygosity than group I. 10. Correlation coefficients between characters of ribbed and topcrossed lines were positive for all characters. Highly significant. correlation coefficients between ribbed and topcrossed lines were obtained especially for characters such as ear number per plant, plant height, leaf length and yield per plot.

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The Analysis on the Relationship between Firms' Exposures to SNS and Stock Prices in Korea (기업의 SNS 노출과 주식 수익률간의 관계 분석)

  • Kim, Taehwan;Jung, Woo-Jin;Lee, Sang-Yong Tom
    • Asia pacific journal of information systems
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    • v.24 no.2
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    • pp.233-253
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    • 2014
  • Can the stock market really be predicted? Stock market prediction has attracted much attention from many fields including business, economics, statistics, and mathematics. Early research on stock market prediction was based on random walk theory (RWT) and the efficient market hypothesis (EMH). According to the EMH, stock market are largely driven by new information rather than present and past prices. Since it is unpredictable, stock market will follow a random walk. Even though these theories, Schumaker [2010] asserted that people keep trying to predict the stock market by using artificial intelligence, statistical estimates, and mathematical models. Mathematical approaches include Percolation Methods, Log-Periodic Oscillations and Wavelet Transforms to model future prices. Examples of artificial intelligence approaches that deals with optimization and machine learning are Genetic Algorithms, Support Vector Machines (SVM) and Neural Networks. Statistical approaches typically predicts the future by using past stock market data. Recently, financial engineers have started to predict the stock prices movement pattern by using the SNS data. SNS is the place where peoples opinions and ideas are freely flow and affect others' beliefs on certain things. Through word-of-mouth in SNS, people share product usage experiences, subjective feelings, and commonly accompanying sentiment or mood with others. An increasing number of empirical analyses of sentiment and mood are based on textual collections of public user generated data on the web. The Opinion mining is one domain of the data mining fields extracting public opinions exposed in SNS by utilizing data mining. There have been many studies on the issues of opinion mining from Web sources such as product reviews, forum posts and blogs. In relation to this literatures, we are trying to understand the effects of SNS exposures of firms on stock prices in Korea. Similarly to Bollen et al. [2011], we empirically analyze the impact of SNS exposures on stock return rates. We use Social Metrics by Daum Soft, an SNS big data analysis company in Korea. Social Metrics provides trends and public opinions in Twitter and blogs by using natural language process and analysis tools. It collects the sentences circulated in the Twitter in real time, and breaks down these sentences into the word units and then extracts keywords. In this study, we classify firms' exposures in SNS into two groups: positive and negative. To test the correlation and causation relationship between SNS exposures and stock price returns, we first collect 252 firms' stock prices and KRX100 index in the Korea Stock Exchange (KRX) from May 25, 2012 to September 1, 2012. We also gather the public attitudes (positive, negative) about these firms from Social Metrics over the same period of time. We conduct regression analysis between stock prices and the number of SNS exposures. Having checked the correlation between the two variables, we perform Granger causality test to see the causation direction between the two variables. The research result is that the number of total SNS exposures is positively related with stock market returns. The number of positive mentions of has also positive relationship with stock market returns. Contrarily, the number of negative mentions has negative relationship with stock market returns, but this relationship is statistically not significant. This means that the impact of positive mentions is statistically bigger than the impact of negative mentions. We also investigate whether the impacts are moderated by industry type and firm's size. We find that the SNS exposures impacts are bigger for IT firms than for non-IT firms, and bigger for small sized firms than for large sized firms. The results of Granger causality test shows change of stock price return is caused by SNS exposures, while the causation of the other way round is not significant. Therefore the correlation relationship between SNS exposures and stock prices has uni-direction causality. The more a firm is exposed in SNS, the more is the stock price likely to increase, while stock price changes may not cause more SNS mentions.

Development of Algorithm in Analysis of Single Trait Animal Model for Genetic Evaluation of Hanwoo (단형질 개체모형을 이용한 한우 육종가 추정프로그램 개발)

  • Koo, Yangmo;Kim, Jungil;Song, Chieun;Lee, Kihwan;Shin, Jaeyoung;Jang, Hyungi;Choi, Taejeong;Kim, Sidong;Park, Byoungho;Cho, Kwanghyun;Lee, Seungsoo;Choy, Yunho;Kim, Byeongwoo;Lee, Junggyu;Song, Hoon
    • Journal of Animal Science and Technology
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    • v.55 no.5
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    • pp.359-365
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    • 2013
  • Estimate breeding value can be used as single trait animal model was developed directly using the Fortran language program. The program is based on data computed by using the indirect method repeatedly. The program develops a common algorithm and imprves efficiency. Algorithm efficiency was compared between the two programs. Estimated using the solution is easy to farm and brand the service, pedigree data base was associated with the development of an improved system. The existing program that uses the single trait animal model and the comparative analysis of efficiency is weak because the estimation of the solution and the conventional algorithm programmed through regular formulation involve many repetition; therefore, the newly developed algorithm was conducted to improve speed by reducing the repetition. Single trait animal model was used to analyze Gauss-Seidel iteration method, and the aforesaid two algorithms were compared thorough the mixed model equation which is used the most commonly in estimating the current breeding value by applying the procedures such as the preparation of information necessary for modelling, removal of duplicative data, verifying the parent information of based population in the pedigree data, and assigning sequential numbers, etc. The existing conventional algorithm is the method for reading and recording the data by utilizing the successive repetitive sentences, while new algorithm is the method for directly generating the left hand side for estimation based on effect. Two programs were developed to ensure the accurate evaluation. BLUPF90 and MTDFREML were compared using the estimated solution. In relation to the pearson and spearman correlation, the estimated breeding value correlation coefficients were highest among all traits over 99.5%. Depending on the breeding value of the high correlation in Model I and Model II, accurate evaluation can be found. The number of iteration to convergence was 2,568 in Model I and 1,038 in Model II. The speed of solving was 256.008 seconds in Model I and 235.729 seconds in Model II. Model II had a speed of approximately 10% more than Model I. Therefore, it is considered to be much more effective to analyze large data through the improved algorithm than the existing method. If the corresponding program is systemized and utilized for the consulting of farm and industrial services, it would make contribution to the early selection of individual, shorten the generation, and cultivation of superior groups, and help develop the Hanwoo industry further through the improvement of breeding value based enhancement, ultimately paving the way for the country to evolve into an advanced livestock country.

Classification of West Coastal Dune Vegetation and Comparison of the Inorganic Constituents for the Soil and Present Plants (서해안 해안사구식생의 유형분류와 사구토양 및 식물 무기성분 비교)

  • Shin, Hak Sub;Kim, Hye Jin;Han, Sang Hak;Ko, Seong Yeon;Kang, Hye Jin;Lee, Seo Hui;Lee, Chun Yong;Kim, Chan Beom;Bae, Young Tae;Shin, Jae Kwon;Yun, Chung Weon
    • Journal of Korean Society of Forest Science
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    • v.102 no.3
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    • pp.345-354
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    • 2013
  • To understand the community structures of the vegetation of the beaches and coastal dunes of Seocheon-gun, Boryeong-si, Anmyeon-do, Taean-gun in Chungcheongnam-do and Buan-gun in Jeollabuk-do at the west coast of South Korea, a plant sociological vegetation survey was carried out to make a classification of correlation vegetation communities, a cluster analysis and an inorganic component analysis on the soil and plant body. Regarding the vegetation of the coastal dunes, plant communities were classified into 31 communities by correlation dominant species, and as a result of a cluster analysis on the vegetation communities, they were classified into five vegetation types such as Calystegia soldanella community, Rosa rugosa community, Imperata cylindrica community, Vitex tend community and Elymus mollis community. The soil pH was highest in Seocheon area ($7.54{\pm}1.18$) while lowest in Buan area ($6.29{\pm}2.15$), and regarding inorganic components, the nitrogen content was highest in Robinia while lowest in Imperata cylindrica. The soil PH of vegetation I was highest (8.23) among the five vegetation types, and the organic matter was lowest (71.58). As a result of CCA ordination analysis to examine the correlation among environmental factors, Calystegia soldanella community, Rosa rugosa community and Imperata cylindrica community among the five vegetation types were distributed while they were not affected by soil environmental elements, but Vitex tend community and Elymus mollis community were distributed mainly at the places with high $K^+$ content in the soil.

The Variation of Natural Population of Pinus densiflora S. et Z. in Korea (VIII) - Genetic Variation of the progeny originated from Injye, Jeongsun, and Samchuk Populations - (소나무 천연집단(天然集團)의 변이(變異)에 관(關)한 연구(硏究) - 인제(麟蹄), 정선(旌善), 삼척집단(三陟集團)의 차대(次代)의 유전변이(遺傳變異) -)

  • Yim, Kyong Bin;Lee, Kyong Jae
    • Journal of Korean Society of Forest Science
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    • v.43 no.1
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    • pp.20-30
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    • 1979
  • The purpose of present study is to analyze the genetic variation of natural stand of Pinus densiflora. In 1976 following after the seletion of 1974 and 1975, twenty trees from each of three natural populations of the species were selected and seeds were collected, and the locations and conditions of populations are presented in table 1, 2 and figure 1. Some morphological traits of the populations were already detailed in our fifth report of this series. The morphological traits of cone, seed and seed-wing, and also the growth performances and needle characters of the seedling were observed in the present study according to the previous methods. The results obtained are summarized as follows; 1. The meteorological data obtained by averaging the records of 30 year period(1931~1960) measured from the nearest meteorological station to each population are shown in fig. 2, 3, 4. The distributional patterns of investigated climate factors are generally considered to be similar among the locations. However, the precipitation density during growing season and the air temperature during dormant season on Samchuk area (Pop. 9) were quite different from those of the other areas. 2. The measurements of fresh cone weight, length, diameter and cone index (i.e.: length to diameter ratio) are presented in table 7. As shown in table 7, all these traits except for cone diameter seem to be not significant in population and to be highly significant in family differences within population. 3. The morohological traits of seed and seed-wing are detailed in table 8, 9, and highly significant differences are recognized among the populations and the families within population in seed weight, seed length, seed thickness but not among the populations in the other observed traits. The values of correlation between the characteristics of cone and seed are presented in table 12. As shown, the correlation between cone length and seed wing length, between seed wing width and seed width were significantly positive in population 8 and 9 but in population 7. The positive correlations between seed length and seed width were calculated in all populations studied 4. Significant statistical differences among populations and families within population are observed in the growth performances of 1-0 seedling height of these progenies. But the differences in 1-1 seedling height and root collar diameter are shown only among familes within population. As shown in table 13, the most parts of correlations are not significant statistically between the growth performances of seedling and the seed characters. 5. As shown in table 15, statistical differences are considered to be significant among the populations in stomata row on both sides of the needle but not in serration density. The correlations between progenies and parents are not generally observed in the investigated traits of needle as shown in table 16.

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Heritabilities and Genetic Correlations on Egg Compositions in Layers (난용계의 난구함분에 관한 유전력 및 유전상관)

  • 상병찬;한성욱;정선부
    • Korean Journal of Poultry Science
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    • v.16 no.2
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    • pp.83-89
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    • 1989
  • This study was conducted to estimate heritabilities, genetic and phenotypic correlations on egg compositions in layers. The data analysis were a total of 6,097 eggs in S. C. W. Leghorn and R. I. Red from March 1, 1980 to July 31, 1981. The results obtained are summarized as follows; 1. The average albumen weight at first egg, 300 and 500 days of age were 28.67, 36.25 and 37.51g in the S. C. W. Leghorn, and 28.95, 36.01 and 36.85g in the R. I. Red, respectively. The yolk weigh at first egg ,300 and 500 days were 9.21, 15.94 and17.86g in the S. C. W. Leghorn,9.46, 16.43 and 18.54g in the R. I. Red, respectively. The shell weight at first egg, 300 and 500 days were 4.04, 5.39 and 5.40g in the S. C. W. Leghorn, and 3.66, 5.13 and 5.28g, respectively. 2. The heritability estimates based on the variance of sire and dam components were 0.631-0.164 and 0.412-0.496 in the S. C. W. Leghorn,0.234-0.563 and 0.477-0.610 in the R. I. Red for albumen weight; 0.213-0.530 and 0.343-0.613 in the S. C. W. Leghorn, 0.253-0.437 and 0.389-0.477 in the R. I. Red for yolk weight; 0.427-0.602 and 0.336-0.409 in the S. C. W. Leghorn, 0.141-0.281 in the R. I. Red for shell weight, respectively. 3. The genetic correlation coefficients of egg compositions were as follows; In the S. C. W. Leghorn and R. I. Red, the coefficients between albumen weight and yolk weight, 0.082-0.339 and 0.142-0.465; between albumen weight and shell weight, 0.674-0.952 and 0.216-0.546; between yolk weight and shell weight,0.173-0.171 and 0.121-0.749, respectively.

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Molecular Genetic Analysis in Dystroglycanopathy with the Fukuyama Congenital Muscular Dystrophy Phenotype (Fukuyama 선천성 근이영양증에서의 분자유전학적 분석)

  • Cha, Lily Myung-Jin;Shin, Jae Eun;Kim, Se Hoon;Lee, Min Jung;Lee, Chul Ho;Lee, Young-Mock
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.17 no.2
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    • pp.48-54
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    • 2017
  • Purpose: Fukuyama congenital muscular dystrophy (FCMD) is a rare, autosomal-recessive disorder characterized by early-onset hypotonia associated with brain malformations in dystroglycanopathy. Although the wide spectrum of congenital muscular dystrophies causes difficulty in diagnosis, correlating the genotype with the clinical phenotype can help diagnose FCMD. Here, we evaluated the correlation of targeted molecular genetic analysis of FKTN gene mutation with the FCMD phenotype. Methods: This study was conducted retrospectively with 9 subjects. Inclusion criteria included clinical symptoms characterized by early-onset hypotonia with magnetic resonance imaging (MRI) featuring brain malformations. FKTN gene-alteration analysis was performed using various FKTN gene-analysis methods, including sequencing. Results: Among the 9 subjects studied, 4 (44.4%) were male and 5 (55.6%) were female. The median age of onset of the first symptom was 3.1 months. The first symptom was a delayed milestone in 6 cases (66.7%). All 9 subjects (100%) presented with early-onset hypotonia and global delayed development. All subjects presented with cortical malformation in their brain MRIs. Of the 9 subjects, 6 subjects had previously undergone muscle biopsy and 4 cases (4/6; 66.7%) showed dystrophic or myopathic features. Pathogenic mutations causing FCMD were identified in 3 cases. Conclusions: In this study, all 3 subjects with FKTN mutations showed important MRI findings (pachygyria and cerebellar dysplasia). These data suggest that patients with characteristic phenotypes who show pachygyria and cerebellar abnormalities in brain MRIs may have a high probability of being diagnosed with FCMD.

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QTL Analysis to Improve and Diversify the Grain Shape of Rice Cultivars in Korea, Using the Long Grain japonica Cultivar, Langi (초장립종 벼를 이용한 입형 관련 QTL 분석 및 국내 벼 품종 입형 개선 연구)

  • Kim, Suk-Man;Park, Hyun-Su;Lee, Chang-Min;Baek, Man-Kee;Cho, Young-Chan;Suh, Jung-Pil;Jeong, Oh-Young
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.65 no.4
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    • pp.303-313
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    • 2020
  • Rice grain shape is one of the key components of grain yield and market value. An understanding of the genetic basis of the variation in grain shape could be used to improve grain shape. In this study, we developed a total of 265 F2 individuals derived from a cross between japonica cultivars (Josaeng-jado and Langi) and used this population for quantitative trait locus (QLT) analysis. Correlation analysis was performed to identify relationships between grain traits (GL: grain length, GW: grain width, L/W: ratio of length to width, TGW: 1,000 grain weight). The grain shape was positively correlated with GL and TGW, and negatively correlated with GW. In QTL analysis associated with grain shape, one QTL for GL, qGL5, detected on chromosome 5, explained 20.3% of the phenotypic variation (PV), while two QTLs, qGW5 (PV=36.1) and qGW7 (PV=26.1), for GW were identified on chromosomes 5 and 7, respectively. Evaluation of the effects of each of the QTLs on the grain shape in the population showed a significant difference in the grain size in positive lines compared with the lines without the QTLs. According to the QTL combination of the allelic-types, the grain shape of the tested lines varied from semi-round type to long spindle-shaped type. The results of this study extend our knowledge about the genetic pool governing the diversity of grain shape in japonica cultivars and could be used to improve the grain shape of this species through marker-assisted selective breeding in Korea.