• Title/Summary/Keyword: genetic difference

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The relationship between catechol-O-methyltransferase gene polymorphism and coronary artery abnormality in Kawasaki disease (가와사키병의 관상동맥 이상과 catechol-O-methyltransferase 유전자의 단일염기다형성)

  • Lee, Hyo Jin;Lee, Myung Sook;Kim, Ji Sook;Kim, Eun Ryoung;Kang, Sung Wook;Kim, Soo Kang;Chung, Joo Ho;Yoon, Kyung Lim;Han, Mi Young;Cha, Seong Ho
    • Clinical and Experimental Pediatrics
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    • v.52 no.1
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    • pp.87-92
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    • 2009
  • Purpose : Many gene polymorphisms are associated with coronary artery abnormalities in Kawasaki disease. Catechol-O- methyltransferase (COMT) plays an important role in the metabolism of catecholamines, catechol estrogen, and catechol drugs. Polymorphisms of the COMT gene are reported to be associated with myocardial infarction and coronary artery abnormalities. The aim of this study was to evaluate the relationship between COMT gene polymorphisms and coronary artery abnormalities in Kawasaki disease patients. Methods : One hundred and one Korean children with Kawasaki disease and 306 healthy Korean control subjects were enrolled in this study. The polymorphisms of the COMT gene were analyzed by direct sequencing. Results : There were no differences in the genotype and allelic frequency of the rs4680 and rs769224 polymorphic sites between Kawasaki disease and control subjects. Further, no significant difference was found in the rs4680 polymorphism between patients with coronary artery abnormalities and patients without coronary artery abnormalities (codominant P=0.32, dominant P=0.74, recessive P=0.13). However, the distribution of the rs769224 polymorphism was significantly different between patients with coronary artery abnormalities and patients without coronary artery abnormalities (codominant P= 0.0077, dominant P=0.0021, recessive P=0.16). Conclusion : Our results indicate that the polymorphisms of the rs769224 gene might be related to the development of coronary artery abnormalities in Kawasaki disease.

The Effect of Follicle-Stimulating Hormone Receptor (FSHR) Polymorphism on Outcomes of Controlled Ovarian Hyperstimulation (COH) and In-vitro Fertilization and Embryo Transfer (IVF-ET) (체외수정시술시 난포자극호르몬 수용체 유전자 다형성이 과배란유도 및 임신 결과에 미치는 영향)

  • Yoon, Ji-Sung;Choi, Young-Min;Lim, Kyung-Sil;Hur, Chang-Young;Kang, Young-Je;Jung, Jae-Hoon;Lee, Won-Don;Lim, Jin-Ho;Hwang, Kyu-Ri;Jee, Byung-Chul;Ku, Seung-Yup;Suh, Chang-Suk;Kim, Seok-Hyun;Kim, Jung-Gu;Moon, Shin-Yong
    • Clinical and Experimental Reproductive Medicine
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    • v.31 no.2
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    • pp.133-139
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    • 2004
  • Objective: To investigate the association of FSH receptor (FSHR) polymorphism at position 680 with outcomes of controlled ovarian hyper-stimulation for IVF-ET in Korean women. Design: Genetic polymorphism analysis. Materials and Methods: The FSHR polymorphism was analyzed by PCR-RFLP in 172 ovulatory women below the age of 40 year. Patients with polycystic ovary syndrome, endometriosis, or previous history of ovarian surgery were excluded. Results: Genotype distribution was 41.9% for the Asn/Asn, 47.7% for the Asn/Ser, and 10.5% for the Ser/Ser FSHR genotype group. There was no difference in age of subjects and infertility diagnosis between genotype groups. When the patients were grouped according to their FSHR genotype, the basal levels of FSH (day 3) were significantly different among the three groups ($6.0{\pm}0.3\;IU/L$ (mean $\pm$ SEM), $5.8{\pm}0.3\;IU/L$, and $8.6{\pm}1.2\;IU/L$ for the Asn/Asn, Asn/Ser, and Ser/Ser groups, respectively, p=0.002). The Ser/Ser group showed a higher total doses of gonadotropins required to achieve ovulation induction, and a lower serum estradiol levels at the time of hCG administration compared with other two groups, but the differences were of no statistical significance. The numbers of oocytes retrieved were significantly different among the three groups ($8.6{\pm}0.8$, $9.9{\pm}0.6$, and $6.3{\pm}0.9$, for the Asn/Asn, Asn/Ser, and Ser/Ser groups, respectively, p=0.049). Clinical pregnancy rates were 42.4%, 25.9%, and 29.4% for the Asn/Asn, Asn/Ser, and Ser/Ser groups, respectively. Conclusion: Homozygous Ser/Ser genotype of FSHR polymorphism at position 680 was associated with decreased ovarian response to gonadotropin stimulation for IVF-ET.

Effect of Trichostatin A on Anti HepG2 Liver Carcinoma Cells: Inhibition of HDAC Activity and Activation of Wnt/β-Catenin Signaling

  • Shi, Qing-Qiang;Zuo, Guo-Wei;Feng, Zi-Qiang;Zhao, Lv-Cui;Luo, Lian;You, Zhi-Mei;Li, Dang-Yang;Xia, Jing;Li, Jing;Chen, Di-Long
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.18
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    • pp.7849-7855
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    • 2014
  • Purpose: To investigate the effect of deacetylase inhibitory trichostatin A (TSA) on anti HepG2 liver carcinoma cells and explore the underlying mechanisms. Materials and Methods: HepG2 cells exposed to different concentrations of TSA for 24, 48, or 72h were examined for cell growth inhibition using CCK8, changes in cell cycle distribution with flow cytometry, cell apoptosis with annexin V-FTIC/PI double staining, and cell morphology changes under an inverted microscope. Expression of ${\beta}$-catenin, HDAC1, HDAC3, H3K9, CyclinD1 and Bax proteins was tested by Western blotting. Gene expression for ${\beta}$-catenin, HDAC1and HDAC3 was tested by q-PCR. ${\beta}$-catenin and H3K9 proteins were also tested by immunofluorescence. Activity of Renilla luciferase (pTCF/LEF-luc) was assessed using the Luciferase Reporter Assay system reagent. The activity of total HDACs was detected with a HDACs colorimetric kit. Results: Exposure to TSA caused significant dose-and time-dependent inhibition of HepG2 cell proliferation (p<0.05) and resulted in increased cell percentages in G0/G1 and G2/M phases and decrease in the S phase. The apoptotic index in the control group was $6.22{\pm}0.25%$, which increased to $7.17{\pm}0.20%$ and $18.1{\pm}0.42%$ in the treatment group. Exposure to 250 and 500nmol/L TSA also caused cell morphology changes with numerous floating cells. Expression of ${\beta}$-catenin, H3K9and Bax proteins was significantly increased, expression levels of CyclinD1, HDAC1, HDAC3 were decreased. Expression of ${\beta}$-catenin at the genetic level was significantly increased, with no significant difference in HDAC1and HDAC3 genes. In the cytoplasm, expression of ${\beta}$-catenin fluorescence protein was not obvious changed and in the nucleus, small amounts of green fluorescence were observed. H3K9 fluorescence protein were increased. Expression levels of the transcription factor TCF werealso increased in HepG2 cells following induction by TSA, whikle the activity of total HDACs was decreased. Conclusions: TSA inhibits HDAC activity, promotes histone acetylation, and activates Wnt/${\beta}$-catenin signaling to inhibit proliferation of HepG2 cell, arrest cell cycling and induce apoptosis.

Role of MYH Polymorphisms in Sporadic Colorectal Cancer in China: A Case-control, Population-based Study

  • Yang, Liu;Huang, Xin-En;Xu, Lin;Zhou, Jian-Nong;Yu, Dong-Sheng;Zhou, Xin;Li, Dong-Zheng;Guan, Xin
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.11
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    • pp.6403-6409
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    • 2013
  • Purpose: Biallelic germline variants of the 8-hydroxyguanine (8-OG) repair gene MYH have been associated with colorectal neoplasms that display somatic $G:C{\rightarrow}T:A$ transversions. However, the effect of single germline variants has not been widely studied, prompting the present investigation of monoallelic MYH variants and susceptibility to sporadic colorectal cancer (CRC) in a Chinese population. Patients and Methods: Between January 2006 and December 2012, 400 cases of sporadic CRC and 600 age- and sex-matched normal blood donors were screened randomly for 7 potentially pathogenic germline MYH exons using genetic testing technology. Variants of heterozygosity at the MYH locus were assessed in both sporadic cancer patients and healthy controls. Univariate and multivariate analyses were performed to determine risk factors for cancer onset. Results: Five monoallelic single nucleotide polymorphisms (SNPs) were identified in the 7 exon regions of MYH, which were detected in 75 (18.75%) of 400 CRC patients as well as 42 (7%) of 600 normal controls. The region of exon 1 proved to be a linked polymorphic region for the first time, a triple linked variant including exon 1-316 $G{\rightarrow}A$, exon 1-292 $G{\rightarrow}A$ and intron 1+11 $C{\rightarrow}T$, being identified in 13 CRC patients and 2 normal blood donors. A variant of base replacement, intron 10-2 $A{\rightarrow}G$, was identified in the exon 10 region in 21 cases and 7 controls, while a similar type of variant in the exon 13 region, intron 13+12 $C{\rightarrow}T$, was identified in 8 cases and 6 controls. Not the only but a newly missense variant in the present study, p. V463E (Exon 14+74 $T{\rightarrow}A$), was identified in exon 14 in 6 patients and 1 normal control. In exon 16, nt. 1678-80 del GTT with loss of heterozygosity (LOH) was identified in 27 CRC cases and 26 controls. There was no Y165C in exon 7 or G382D in exon 14, the hot-spot variants which have been reported most frequently in Caucasian studies. After univariate analysis and multivariate analysis, the linked variant in exon 1 region (p=0.002), intron 10-2 $A{\rightarrow}G$ (p=0.004) and p. V463E (p=0.036) in the MYH gene were selected as 3 independent risk factors for CRC. Conclusions: According to these results, the linked variant in Exon 1 region, Intron 10-2 $A{\rightarrow}G$ of base replacement and p. V463E of missense variant, the 3 heterozygosity variants of MYH gene in a Chinese population, may relate to the susceptibility to sporadic CRC. Lack of the hot-spot variants of Caucasians in the present study may due to the ethnic difference in MYH gene.

Forest Vegetation Classification and Quantitative Analysis of Picea jezoensis and Abies hollophylla stand in Mt. Gyebang (계방산 가문비나무 및 전나무 임분의 산림식생유형분류와 정량적 분석)

  • Ko, Seung-Yeon;Han, Sang-Hak;Lee, Won-Hee;Han, Sim-Hee;Shin, Hak-Sub;Yun, Chung-Weon
    • Korean Journal of Environment and Ecology
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    • v.28 no.2
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    • pp.182-196
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    • 2014
  • In this study, for the forest vegetation classification and the quantitative analysis of the Picea jezoensis and Abies hollophylla stand, the type classification of the vegetation structure was performed with Z-M phytosociological method, and as a result, it was classified into the Picea jenoensis community and the Abies holophylla community in the community unity. The Picea jezoensis community was subdivided into the Rosa koreana group and the Acer ukurunduense group in the group unity and the Abies holophylla community was subdivided into the Acer mandshuricum group and the Lindera obtusiloba group. In the results of estimating the importance value based on the classified vegetation unity, it was deemed that the dominance of the Picea jezoensis would be continued for a while as the importance value from the tree layers of vegetation unity 1 and 2 represented relatively high with 30.73% and 20.25%. In addition, in the results of analyzing the species diversity to estimate the maturity of the community, the species diversity index of the vegetation unity 4 was the lowest with 0.6976 and that of vegetation unity 2 was the highest with 1.1256. As in the similarity between the communities, the vegetation unit 1 and 4 and the vegetation unit 2 and 4 represented low with 0.2880 and 0.3626, respectively, and the similarity between the vegetation unit 1 and 2 and between 2 and 4 represented 0.5411 and 0.5041, respectively, it was deemed that they were the communities that the difference in the composition species between the communities was not big. In the results of analyzing the Chi-square matrix and the catalog of constellations for the interspecific, they were divided mainly into two types, and type 1 plant species were mostly differential species and the characteristic species, which appeared in the Picea jezoensis community classified phytosociologically, and type II plant species were mostly the species appearing in the Abies holophylla community growing in the relatively damp places. Such results is deemed that the positive (+) correlation is recognized among the species, of which growing environments are similar, and the negative (-) correlation .represents among the species, of which preferential environments are different.

Statistical Treatment on Amylose and Protein Contents in Rice Variety Germplasm Based on the Data Obtained from Analysis of Near-Infrared Reflectance Spectroscopy (NIRS) (NIRS 분석 Data에 의한 국내외 육성품종 벼 유전자원의 아밀로스 및 단백질 성분에 대한 통계분석)

  • Oh, Sejong;Chae, Byungsoo;Lee, Myung Chul;Choi, Yu Mi;Lee, Sukyeung;Ko, Ho Cheol;Rauf, Muhammad;Hyun, Do Yoon
    • Korean Journal of Plant Resources
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    • v.31 no.5
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    • pp.498-514
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    • 2018
  • A statistical analysis for 3651 genetic resources collected from China (1,542), Japan (1,409), Korea (413), and India (287) was conducted using normal distribution, variability index value (VIV), analysis of variation (ANOVA) and Ducan's multiple range test (DMRT) based on a data obtained from NIRS analysis. In normal distribution, the average protein content was 8.0%, whereas waxy type amylose and common rice amylose were found to be 8.7% and 22.7%, respectively. The protein contents ranged from 5.4 to 10.6% at the level of 95%. The waxy amylose and common rice amylose ranged from 5.9 to 11.5%, and from 16.9 to 28.5% at 95% confidence level, respectively. The VIV was 0.59 for protein, 0.64 for low amylose, and 0.81 for high amylose contents. The average amylose contents were 18.85% in Japanese, 19.99% in Korean, 20.27% in Chinese, and 25.46% in Indian resources, while the average protein contents were found to be 7.23% in Korean, 7.73% in Japanese, 8.01% in Chinese, and 8.17% in Indian resources. The ANOVA of amylose and protein content showed significant differences at the level of 0.01. The F-test for amylose content was 158.34, and for protein content 53.95 compared to critical value 3.78. The DMRT of amylose and protein content showed significant difference (p<0.01) between resources of different countries. Japanese resources had the lowest level of amylose contents, whereas, the lowest level of protein content was found in Korean resources compared to other origins. Indian resources showed the highest level of amylose and protein contents. It is recommended these results should be helpful to future breeding experiments.

Agronomic Characteristics of A Mutant for Genic Male Sterility-Chalky Endosperm and Its Utilization on $F_1$ Hybrid Breeding System in Rice (벼 유전자적 웅성불임-심백 돌연변이체의 특성과 그를 이용한 일대잡종 육성체계)

  • ;Mun-Hue Heu
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.40 no.6
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    • pp.684-696
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    • 1995
  • A mutant for chalky endosperm and genetic male sterility (GMS) was newly developed in rice. The two characters were found to be controlled by single recessive gene which has pleiotropic effect, indicating that chalky seeds should be GMS seeds in segregating populations. Chalky seeds showed the same shape and size as normal seeds. However, starch composition of central part of endosperm was looser and shape of starch granules was rounder compared with normal endosperm, resulting in significantly lower grain weight, absolute density and grain hardness in chalky grains than in normal ones. Amylose content and gel consistency of chalky grains were much lower and harder, respectively. Male sterile plants showed much shorter plant height, poorer panicle exsertion and lesser panicle number compared with normal plants. Microspore abortion stage in pollen developmental process was observed as before meiosis. Male sterility of the mutant was stable regadless of temperature and day length. A system breeding hybrid rice using this mutant was discussed, comp ring with other systems utilizing cytoplasmic-genic male sterility(CGMS) and environment sensitive GMS(EGMS). Separation of GMS seeds in mixed seed bulks by specific gravity (1.14∼1.16g / cm3) was successful about 85∼90%. But some mixed normal plants were seemed to be easily removed by the apparent difference in growth characters at seedling stage. The highest natural outcrossing rate of this GMS line was as 17.3 % in a plot treated with 2-row pollinator, I-row GMS, and GA3 + cutting of flag leaf + pollen-scattering by rope.

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Determination of optimum gamma ray range for radiation mutagenesis and hormesis in quinoa (Chenopodium quinoa Willd.)

  • Park, Chan Young;Song, Seon Hwa;Sin, Jong Mu;Lee, Hyeon Young;Kim, Jin Baek;Shim, Sang In
    • Proceedings of the Korean Society of Crop Science Conference
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    • 2017.06a
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    • pp.240-240
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    • 2017
  • Quinoa (Chenopodium quinoa Willd.) is one of the ancient crops cultivated in the Andes region at an altitude of 3,500-4000m in Chile and Bolivia from 5000 BC. It contains a large amount of protein, minerals and vitamins in comparison with other crops. The cultivation area has been increasing worldwide because of its excellent resistance to various abiotic stress such as salinity, drought and low temperature. ${\gamma}$-Ray radiation of high dose is often used as a tool to induce mutations in plant breeding, but it has a deleterious effect on organisms. However, the radiation may have a positive stimulatory effect of 'hormesis' in the low dose range. This experiment was carried out to investigate the optimum dose range for creating the quinoa genetic resources and to investigate the hormesis effect at low dose on the quinoa. This experiment was performed for 120 days from November, 2016 to February, 2017 in the greenhouse of Gyeongsang National University. ${\gamma}$-Ray radiation was irradiated to seeds at 0 Gy, 50 Gy, 100 Gy, 200 Gy, 300 Gy, 400 Gy, 600 Gy, 800 Gy and 1000 Gy for 8 hours. (50 Gy) using the low level radiation facility ($Co^{60}$) of Cooperative Research Institute of Radiation Research Institute, KAERI. Fifty seeds were placed on each petri dish lined with wet filter paper and germination rate was measured at a time interval of 2 hours for 40 hrs. The length of the root length was measured one week after germination. Each treatment was carried out in 3 replicates. The growth of seedlings were investigated for 10 days after transplanting of 30 day-old seedlings. The plant height, NDVI, SPAD, Fv/Fm, and panicle weight were measured. The germination rate was highest at 50Gy and 0Gy and the rate of seeds treated with 400Gy or higher rate decreased to 25% of the seeds treated with 50Gy. The emergence rate of seedling in pot experiment was higher at the dose of 200 Gy, 300 Gy and 400 Gy than at 0 and 50Gy. However, the rate was lower at strong radiation higher than 600Gy at which $1^{st}$ leaf was not expanded fully and dead due to extreme overgrowth at 44 days after treatment (DAT). The highest value of panicle weight was observed at 50Gy (6.15g) and 100Gy (5.57g). On the other hand, the weight at high irradiated dose of 300Gy and 400Gy was decreased by about 55% compared to low dose (50 Gy). NDVI measurement also showed the highest value at 50 Gy as the growth progressed. SPAD was the highest at 400 Gy and showed positive correlation with irradiation dose except 0 Gy. Fv/Fm was high at 50 Gy up to 30 DAT and no difference between treatments was observed except for 400 Gy from 44 DAT. The plant height was the highest in 50Gy during the growing period and was higher in the order of 50Dy, 100Gy, 0Gy, 200Gy, 300Gy and 400Gy in 88 DAT. In this experiment, the optimal radiation dose for hormesis was 50Gy and 100Gy, and the optimal radiation dose for mutagenesis seems to be 400 Gy.

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Soil Characteristics Differences due to Slope Aspect of Sweet Persimmon Orchard Derived from Porphyritic Residuum (반암(斑岩)에서 유래(由來)된 잔적(殘績) 구릉지(丘陵地) 단감과원(果園)의 경사방향별(傾斜方向別) 토양특성(土壤特性) 연구(硏究))

  • Yun, Eul-Soo;Jung, Yeun-Tae;Kim, Jung-Kon;Son, Il-Soo;Kang, Hang-Won
    • Korean Journal of Soil Science and Fertilizer
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    • v.26 no.3
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    • pp.143-150
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    • 1993
  • To gain the basic informations on soil management practices by determination of the differences of soil genetic characteristics and the contents of soil moisture due to slope aspects of hilly land, this study was conducted at 1992 on sweet persimmon orchard soils derived from porphyry in southern of Korea. The results obtained were summarized as follows. The soils studied were belong to fine loamy family. The degree of soil development was greater in the north than other slope aspects and the solum thickness also the same. The soil chemical properties such as pH and exchangeable cations except for potassium were low generally in the orchards studied but the content of organic matter was lack in the summit and south aspect. The contents of Fe oxide and extractable Al were higher in the subsurface than surface. Fe, Al and clay indexes which indicate relative intensity of B horizon development were higher in the side slope than summit and the highest in the north slope. The rate of solum to B horizon was higher as about 1.5 for summit and west aspect which had thiner B horizon thickness compared to other aspect. North and west aspect had certainly more amount of soil water at drought season than other slope aspects and was lower the difference of soil water between the drought and wet seasons. Therfore, the soil management such as erosion control and irrigation at drought season should be practices differently due to slope aspect and soil chararteristics in the sloped land.

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Genetic Expression of Color Approved by Color Qualities of Munsell System on the Cocoon of Silkworm, Bombyx mori (누에 고치색 유전자 발현의 다양성 검정 및 색채과학적 해석)

  • Han, Myung-Sae;Park, Hyun-Ro;Han, Sang-Mi;Nam, Ki-Soo;Kwon, Soon-Ha;Lim, Jong-Sung;Nguyen, Mau Tuan
    • Journal of Sericultural and Entomological Science
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    • v.41 no.1
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    • pp.20-28
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    • 1999
  • Color qualities investigated on the basis of Munsell code and Korean standard color code for the cocoons from various strain of mulberry silkworm, Bombyx mori. 16 of different color qualities were identified from 21 of original silworm strains, and determinated international name with the revision of Korean color name for cocoon. The various cocoon color confirmed on the sphere from 567 to 593 nm wavelength, 78% of those located at the region about 580 nm (575~584) of sensitive "color difference limen". Y gene engaged broad ranges of wavelength (575~593 nm) in the color expression, by contrast with other genes of Pk (593 nm), F (584~593), Grc and relative G group (567~570 nm), on the transmission of carotenoid or flavonoid color substance. YC gene expression by original silk worm strain was also distinguished by those variation of specific yellow than other colors from Grc, GaGb, Gc, and YPkF. Appearance of chrome yellow cocoon was dominant than other yellow in the cross among vivid yellow group. F1 of pin${\times}$green produced the cocoon of yellow such as "additive mixture" as color light, however, most of the hybrid between yellow cocoon showed the color similar to "subtractive mixture" as a mixture of dyestuff. Hybrid cocoons among yellow or green colors were decreased their hue, value, and chroma, than those of parent. Diallel cross among the strain of various green cocoon suggest the existence of Grc, Ga, Gb, Gc genes. Cream colored cocoon of B. mandarina was differed from other yellow cocoon of Bobyx mori B. mori. Y$^A$ with Ymc showed the similar role of Y with C, therefore, segregated yellow cocoon from the B. mori${\times}$B. mandarina (+$^YC/Y^AYmc$). YC expression of $Y^AY$mc genes might be suppressed by deficiency of outer layer sericin on the middle division of silk giand in the B. mandarina.

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