• Title/Summary/Keyword: Genetic variations

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Effects of Genotype Mutation and Coat Color Phenotype on the Offspring from Mating System of MC1R Genotype Patterns in Korean Brindle Cattle (칡소의 MC1R의 유전자형에 따른 교배 조합이 자손의 모색과 유전자형 변이에 미치는 영향)

  • Kim, Sang-Hwan;Jung, Kyoung-Sub;Lee, Ho-Jun;Baek, Jun-Seok;Jung, Duk-Won;Kim, Dae-Eun;Yoon, Jong-Taek
    • Journal of Embryo Transfer
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    • v.28 no.3
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    • pp.215-222
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    • 2013
  • Bovine coat color is decided by the melanocortin receptor 1 (MC1R) genotype mutation and melanogenesis. Specially, in the various cattle breeds, dominant black coat color is expressed by dominant genotype of $E^D$, red or brown is expressed in the frame shift mutation of recessive homozygous e by base pair deletion and wild type of $E^+$ is expressed in various coat colors. However, not very well known about the effected of MC1R genotype mutation on the coat color through family lines in KBC. Therefore, this study were to investigate effect of MC1R genotype mutation on the coat color, and to suggest mating breed system in accordance with of MC1R genotype for increased on brindle coat color appearance. Parents (sire 2 heads and dam 3 heads) and offspring (total : 54 heads) from crossbreeding in KBC family line with the MC1R genotype and phenotype records were selected as experimental animals. The relationship between melanocortin 1 receptor (MC1R) genotypes expression verified by PCR-RFLP, and brindle coat color appearance to the family line of the cross mating breed from MC1R genotype pattern was determined. As a result, 4MC1R genetic variations, $E^+/E^+$ (sire 1), $E^+/e$ (sire 2 and dam 3), $E^+/e$ with 4 bands of 174, 207 and 328 bp (dam 1) and $E^+/e$ with 3 bands of 174, 207, 328 and 535 bp (dam 2) from parents (sire and dam) of KBC. However, 3 genetic variations, e/e (24%), $E^+/E^+$ (22%) and $E^+/e$ (56%) were identified in offspring. Also, brindle coat color expressrated was the e/e with the 0%, $E^+/E^+$ with 67% and $E^+/e$ with 77% from MC1R genotype in offspring on the cross mating of KBC. Furthermore, when the sire had $E^+/e$ genotype and the dam had $E^+/E^+$ with the 3 bands or $E^+/e$ genotype, and both had whole body-brindle coat color, 62% of the offspring had whole body-brindle coat color. Therefore, the seresults, the mating system from MC1R genotype patterns of the sires ($E^+/e$) and dams ($E^+/E^+$ with the 3 bands or $E^+/e$) with brindle coat color may have the highest whole body-brindle coat color expression in their offspring.

Effects of Fibrinogen Level and Genetic Variation in FGA Gene on Korean Stroke Patients (피브리노겐의 수치 및 중요한 아미노산 변형 돌연변이가 뇌중풍에 미치는 영향)

  • Yang, Yong-Jun;Shin, Yong-Cheol;Ko, Seong-Gyu
    • Journal of Society of Preventive Korean Medicine
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    • v.14 no.1
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    • pp.111-123
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    • 2010
  • Backgrounds : Stroke is characterized by loss of brain functions due to a disturbance in the blood vessels supplying blood to the brain, and classified into hemorrhage and ischemia. Stroke is known to be affected by genetic factors and other diseases such as hypertension and cardiovascular diseases. However, the distinctive association between stroke and genetic variations has not discovered yet. Objectives : This study investigated the effects of fibrinogen level and genetic variations in FGA (Fibrinogen alpha chain) gene on stroke in Korean stroke patients and controls. Methods : DNA samples from 674 stroke patients diagnosed by Oriental medical hospitals and 267 controls were used in this study. Two common single nucleotide polymorphism(SNP) with high minor allele frequency(MAF), rs2070011G/A of promoter region and nonsynonymous rs6050A/G of exon 5 in FGA gene, were targeted for Taqman genotyping. Because the TOAST classification is important to the factors and symptoms of stroke, ischemic patients were further classified into five subtypes using diagnosis and clinical data. One-way ANOVA and chi-square test were used for clinical data and genetic association, respectively. Haploview v4.1 program was used for linkage disequilibrium(LD), haplotype and haplotype block analysis. Results : The levels of red blood cells and fibrinogen from clinical data were shown to be significant factors for the sub-groups of TOAST classification. No significant associations of stroke, hemorrhage, ischemic and subtypes of TOAST with rs2070011 and rs6050 of FGA gene were found(P > 0.05). However, rs2070011 in promoter region and nonsynonymous rs6050 in exon 5 which produce the amino acid change from threonine to alanine showed a haplotype block and three haplotypes of A-G, G-A, A-A, suggesting that rs2070011 and rs6050 might be co-segregated in generic recombination. Although A-A haplotype of stroke patients showed 64-69% low frequency compared to controls, there was no significant association between stroke and haplotype(P > 0.05). Conclusion : This study showed that there was no significant association between stroke and two SNP of rs2070011G/A and nonsynonymous rs6050A/G in FGA gene. However, these two SNP compose a haplotype block and three haplotypes of A-G, G-A, A-A. This finding suggests that rs2070011 and rs6050 are so close as to be positioned as linkage disequilibrium. Nevertheless, no significant association between haplotypes and stroke was found.

Performance of Heritabilities, Genetic Correlations and Path Coefficients of Some Agronomic Traits at Different Cultural Environment in Sesame

  • Shim, Kang-Bo;Kang, Chul-Whan;Lee, Sung-Woo;Kim, Dong-Hee;Lee, Bong-Ho
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.45 no.4
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    • pp.245-250
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    • 2000
  • This study was conducted to analyze the responses of some agronomic traits to the different cultural environments and relations among the agronomic traits for selecting sesame varieties with higher cultural stabilities. The indexes for stability parameters measured were coefficient of variability, heritabilities, genetic correlations and path coefficients of agronomic traits according to locations and years in Korea. The heritabilities of agronomic traits showed different by locations and years. Number of seeds per capsule and 1000 seeds weight showed higher heritabilities, but stem length and seed weight per plant showed relatively lower heritabilities. Average heritabilities of some agronomic traits in 1998 were comparatively higher than those of 1999. Of six areas, Jinju area showed biggest coefficient of yield variability in 1998-1999. Iksan and Taegu areas showed higher heritabilities in 1998, but Iksan and Jinju areas showed lower heritabilities in 1999. Genetic correlations were slightly higher than corresponding phenotypic correlations. Stem length showed positive genetic correlation with the number of capsules per plant, and seed weight per plant and the number of capsule per plant showed positive genetic correlation with seed weight per plant. On the analysis of path coefficients, stem length and number of capsules effected highly on grain yield. Great regional variations were observed on the effects of agronomic traits on grain yield. Higher direct effects of stem length on grain yield were observed at Suwon, Chungwon, Taegu, Jinju and Naju areas, but in Iksan area was observed higher direct effect of the number of capsules per plant on grain yield in 1998. In 1999, higher direct effect of stem length on grain yield was observed at Chungwon and Suwon areas. Iksan and Taegu areas were also observed higher direct effect of the number of capsule per plant on grain yield.

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Genetic Variation of Korean Lepista nuda (한국산 민자주방망이 버섯의 유전적 변이)

  • 김승희;김종봉
    • Journal of Life Science
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    • v.14 no.1
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    • pp.115-120
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    • 2004
  • Lepista nuda is a world-wide species which has and international reputation as a excellent edible species. In this study, we investigated the genetic variation and taxonomic relationship of L. nuda and other five Tricholomataceae species were analyzed by random amplied polymorphic DNA (RAPD). 15 kinds of random primers were used. The distance matrix was calculated using UPGMA and phyolgenetic relationship were inferred by neighnor-joining (NJ) method. Various bands of 100bp∼1600bp were observed in electrophoretic patterns of RAPD. Nei's genetic distance was calculated using a total of 228 DNA bands identified, and phylogenetic tree was made. The Nei's genetic variations of L. nuda, Lepista surdida, Collybia peronata, Collybia confluens, Lyophyllum cinerascens, Laccara laccata were 0∼21.3%, 21.2∼28.0%, 15.4∼23.0%, 14∼21.8%, 16.5∼34.6%, and 12.4∼27.4%, respectively The consistency index, the retention index and homoplasy index were 0.5217, 0.5769 and 0.5156, respectively. Also, two groups could be made by NJ tree. The genetic distance between L. nuda and C. confluens was closer than that between L. nuda and L. sordida.

Genetic Distances and Variations of Three Clupeid Species Determined by PCR Technique

  • Choi, Sang-Hoon;Yoon, Jong-Man
    • Development and Reproduction
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    • v.18 no.4
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    • pp.287-292
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    • 2014
  • In this study, seven oligonucleotides primers were shown to generate the shared loci, specific loci, unique shared loci to each species and shared loci by the three species which could be obviously calculated. Euclidean genetic distances within- and between-species were also calculated by complete linkage method with the sustenance of the hierarchical dendrogram program Systat version 13. The genomic DNA isolated from herring (Clupea pallasii), Korean anchovy (Coilia nasus) and large-eyed herring (Harengula zunashi), respectively, in the Yellow Sea, were amplified several times by PCR reaction. The hierarchical dendrogram shows three chief branches: cluster 1 (PALLASII 01, 02, 03, 04, 06 and 07), cluster 2 (NASUS 08, 09, 10, 11, 12, 13 and 14), and cluster 3 (ZUNASHI 15, 16, 17, 18, 19, 20, 21 and PALLASII 05). In three clupeid species, the shortest genetic distance displaying significant molecular difference was between individual PALLASII no. 03 and PALLASII no. 02 (0.018). Individual no. 06 of PALLASII was most distantly related to NASUS no. 11 (genetic distance = 0.318). Individuals from herring (C. pallasii) species (0.920) exhibited higher bandsharing values than did individuals from Korean anchovy (C. nasus) species (0.872) (P<0.05). As a result, this PCR analysis generated on the genetic data displayed that the herring (C. pallasii) species was widely separated from Korean anchovy (C. nasus) species. Reversely, individuals of Korean anchovy (C. nasus) species were a little closely related to those of large-eyed herring (H. zunashi) species.

Analysis of Genetic Relationship Among Native Pears Grown in Korea and Several Commercially Developed Cultivars from Two Pyrus Species Based on RAPD Analysis

  • Cho, Dong-Wook;Oh, Jin-Pyo;Chung, Kyu-Hwan
    • Korean Journal of Plant Resources
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    • v.20 no.6
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    • pp.563-569
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    • 2007
  • RAPD analysis showed that all the OTUs of 'Sandolbae' were the same species because amplified band patterns of all samples generated by each of 5 random primers were identical. Even though there were different environmental conditions, all the "Chuiangne" trees from three different places were the same species, and also all the "Cheongshilli" trees were the same species too. No genetic variations were detected between native Korean pears grown in the habitats and in the research field. Because 212 polymorphic bands were generated by 9 primers selected through primer screening, they were possible to analyze genetic relationship among naturally growing three native Korean pears and nine cultivars of Pyrus pyrifolia and P. communis. Based on the RAPD analysis, three main groups were formed. The first group represented the Six P. pyrifoia cultivars, the second group was the three native Korean pears, and the last group was the three P. communis cultivars. Genetic distance between 'Wonwhang' and 'Chojuro' was closer than other cultivars in group 1 since dissimilarity index value between these two cultivars was 50.82. However, genetic distance between 'Niitaka' and 'Chojuro' was the most distant compared to the others in group 1. In group 2, 'Sandlobae' was genetically closer to 'Chuiangne' than 'Cheongshilli' because dissimilarity index value between 'Sandlobae' and 'Chuiangne' was smaller, 50.82, than the value between 'Sandlobae' and 'Cheongshilli', 63.636. In group 3, 'Old Home' was genetically closer to 'Bartlett' than 'Kaiser Alexander(or Bosc)'. Group 3 composed of P. communis cultivars was genetically further than other two groups, P. pyrifolia cultivars and native Korean pears.

Ribosomal Intergenic Spacer 1 Based Characterization of Button Mushroom (Agaricus bisporus) Strains

  • Kwon, Hyuk Woo;Choi, Min Ah;Kim, Dae Wook;Oh, Youn-Lee;Hyun, Min Woo;Kong, Won-Sik;Kim, Seong Hwan
    • Mycobiology
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    • v.44 no.4
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    • pp.314-318
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    • 2016
  • Breeding the button mushroom requires genetic information about its strains. This study was undertaken to genetically characterize four domestically bred button mushroom strains (Saea, Saejung, Saedo, Saeyeon cultivars) and to assess the possibility of using the intergenic spacer 1 (IGS1) region of rDNA as a genetically variable region in the genetic characterization. For the experiment, 34 strains of Agaricus bisporus, two strains of A. bitorquis, and one strain of A. silvaticus, from 17 countries were used. Nucleotide sequence analysis of IGS1 rDNA in these 37 Agaricus strains confirmed that genetic variations exist, not only among the four domestic strains, but also between the four domestic strains and foreign strains. Crossing two different haploid strains of A. bisporus seems to generate genetic variation in the IGS1 region in their off-spring haploid strains. Phylogenetic analysis based on the IGS1 sequence revealed all A. bisporus strains could be differentiated from A. silvaticus and A. bitorquis strains. Five genetic groups were resolved among A. bisporus strains. Saejung and Saeyeon cultivars formed a separate genetic group. Our results suggest that IGS1 could be complementarily applied in the polymorphism analysis of button mushroom.

Intraspecific Relationship Analysis of Eleutherococcus senticosus Max. by RAPD Markers (RAPD 분석에 의한 가시오갈피의 유연관계 분석)

  • 임정대;성은수;최강준;김승경;김명조;유창연
    • Korean Journal of Plant Resources
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    • v.13 no.2
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    • pp.104-110
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    • 2000
  • To analyse the genetic relationship and intraspecific variations among the Eleutherococcus senticosus population, the polymerase chain reaction(PCR) was performed total genomic DNAs of 10 E. senticosus collections by random 10 primers. The genetic diversity and genetic distance among 10 collections of Eleutherococcus spp. were used to describe the dendrogram showing phylogenic relationship. Ten collections were classfied into two group(group I, II) at the similarity coefficient value of 0.50. Group I included E. senticosus of Bukhado(Japanese), youngwal(Korea), E. seoulense, and E. chiisanesis while group II included several internal and Russia collection. The range of polymorphism was from 66.7 to 90.9% in 87 amplified DNA fragments. The similarity value of all collections ranged from 0.41 to 0.92. The average of genetic distance was 0.61.

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Effects of gene-lifestyle environment interactions on type 2 diabetes mellitus development: an analysis using the Korean Genome and Epidemiology Study data (유전 요인과 생활환경 요인의 상호작용이 제2형 당뇨병 발생에 미치는 영향: 한국인유전체역학 조사사업(KoGES) 자료를 이용하여)

  • Sujin, Hyun;Sangeun, Jun
    • Journal of Korean Biological Nursing Science
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    • v.25 no.1
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    • pp.73-85
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    • 2023
  • Purpose: This study focused on identifying the interaction effects of genetic and lifestyle-environmental factors on the development of type 2 diabetes mellitus (T2D). Methods: Study subjects were selected from the Korean Genome and Epidemiology Study (KoGES) from 2001 to 2014. Data on genetic variations, anthropometric measurements, biochemical data, and seven lifestyle factors (diet, physical activity, alcohol drinking, smoking, sleep, depression, and stress) were obtained from 4,836 Koreans aged between 40 and 59 years, including those with T2D at baseline (n = 1,209), newly developed T2D (n= 1,298) and verified controls (n = 3,538). The genetic risk score (GRS) was calculated by using 11 single-nucleotide polymorphisms (SNPs) related to T2D development and the second quartile was used as the reference category. A Cox proportional hazards regression model was used to evaluate the associations of GRS and lifestyle factors with T2D risk, controlling for covariates. Results: Multivariate regression analysis revealed that GRS was the strongest risk factor for T2D, and body mass index (BMI), smoking, drinking, and spicy food preference also increased the risk. Lifestyle/environmental factors that showed significant interactions with GRS were BMI, current smoking, current drinking, fatty food preference, and spicy food preference. Conclusions: Interactions between genetic factors and lifestyle/environmental factors were associated with an increased risk of T2D. The results will be useful to provide a new perspective on genetic profiling for the earlier detection of T2D risk and clues for personalized interventions, which might be more effective prevention strategies or therapies in individuals with a genetic predisposition to T2D.

Establishing a Core Collection of Proso Millet (Panicum miliaceum) Germplasm

  • Myung Chul Lee;Yu-Mi Choi;Myoung-Jae Shin;Hyemyeong Yoon;Kebede Taye Desta
    • Proceedings of the Plant Resources Society of Korea Conference
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    • 2020.08a
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    • pp.47-47
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    • 2020
  • The Korean National Agrobiodiversity Center holds the more than 1300 accessions of proso millet, but a large portion of accessions are landrace of Korea that has very similar traits. To comprehend the maximum genetic diversity of this crop, a core collection with minimum number of accessions will facilitate easy access to genetic material. Here we assessed the genetic diversity and population structure in a germplasm collection of 830 accessions by employing EST-SSR markers and morphological traits. A total of 107 alleles were detected with an average allele number of 4.9 per locus among the 830 accessions based on 37 EST-SSR markers. The number of alleles per locus ranged from 2 to 7. Polymorphism information content and expected heterozygosity ranged from 0.06 to 0.68 (mean = 0.21) and 0.06 to 0.73 (mean = 0.23), respectively. The germplasm collection was separated into two groups based on population structure analysis, whereas principal coordinate analysis (PCoA) could not cluster accessions according to their geographic origin. Subsequently, a preliminarily developed core collection with a total of 141 accessions (17%) was selected from the whole set of germplasm by combining allelic variations of EST-SSR markers and eight different phenotypic traits. The core collection optimally represented the whole germplasm collection and displayed a similar level of PCoA value and genetic variation from the initial collection. The results obtained here provide a primary resource for further genetic analysis and establish a reference for further development of appropriate genetic breeding strategies.

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