• Title/Summary/Keyword: GENETIC RELATIONSHIP

Search Result 1,216, Processing Time 0.033 seconds

Determination of plasma C16-C24 globotriaosylceramide (Gb3) isoforms by tandem mass spectrometry for diagnosis of Fabry disease (패브리병(Fabry) 진단을 위한 혈장 중 Globotriaosylceramide (Gb3)의 탠덤매스 분석법 개발과 임상 응용)

  • Yoon, Hye-Ran;Cho, Kyung-Hee;Yoo, Han-Wook;Choi, Jin-Ho;Lee, Dong-Hwan;Zhang, Kate;Keutzer, Joan
    • Journal of Genetic Medicine
    • /
    • v.4 no.1
    • /
    • pp.45-52
    • /
    • 2007
  • Purpose : A simple, rapid, and highly sensitive analytical method for Gb3 in plasma was developed without labor-ex tensive pre-treatment by electrospray ionization MS/ MS (ESI-MS/MS). Measurement of globotriaosy lceramide (Gb3, ceramide trihex oside) in plasma has clinical importance for monitoring after enzyme replacement therapy in Fabry disease patients. The disease is an X-linked lipid storage disorder that results from a deficiency of the enzyme ${\alpha}$-galactosidase A (${\alpha}$-Gal A). The lack of ${\alpha}$-Gal A causes an intracellular accumulation of glycosphingolipids, mainly Gb3. Methods : Only simple 50-fold dilution of plasma is necessary for the extraction and isolation of Gb3 in plasma. Gb3 in diluted plasma was dissolved in dioxane containing C17:0 Gb3 as an internal standard. After centrifugation it was directly injected and analyzed through guard column by in combination with multiple reaction monitoring mode of ESI-MS/MS. Results : Eight isoforms of Gb3 were completely resolved from plasma matrix. C16:0 Gb3 occupied 50% of total Gb3 as a major component in plasma. Linear relationship for Gb3 isoforms w as found in the range of 0.001-1.0 ${\mu}g$/mL. The limit of detection (S/N=3) was 0.001 ${\mu}g$/mL and limit of quantification was 0.01 ${\mu}g$/mL for C16:0 Gb3 with acceptable precision and accuracy. Correlation coefficient of calibration curves for 8 Gb3 isoforms ranged from 0.9678 to 0.9982. Conclusion : This quantitative method developed could be useful for rapid and sensitive 1st line Fabry disease screening, monitoring and/or diagnostic tool for Fabry disease.

  • PDF

The identification of non-synonymous SNP in the Enoyl-CoA delta isomerase 2 (ECI2) gene and its Association with Meat Quality Traits in Berkshire pigs (버크셔 돼지 육질 형질과 Enoyl-CoA delta isomerase 2 (ECI2) 유전자 nsSNP의 연관성 분석)

  • Hwang, Jung Hye;An, Sang Mi;Park, Da Hye;Kang, Deok Gyeong;Kim, Tae Wan;Park, Hwa Chun;Ha, Jeongim;Kim, Chul Wook
    • Journal of the Korean Society of International Agriculture
    • /
    • v.30 no.4
    • /
    • pp.277-284
    • /
    • 2018
  • Meat quality has always been one of the most important factors that controls the choice of pork consumers and is of great interest in the pig industry. In this study, we identified a single nucleotide polymorphism (SNP) in the enoyl-CoA delta isomerase 2 (ECI2) gene in Berkshire pigs (n = 430) by analyzed the association between the SNP and meat quality traits. The non-synonymous SNP in the ECI2 gene is located at c.608 C > G and resulted in an amino acid change from threonine to serine. Significant associations between the SNP and meat quality traits, such as redness (CIE a), and the $pH_{24hr}$, were revealed in both the dominant and co-dominant models, whereas carcass weight, drip loss, and fat content and moisture content were significantly associated only with the dominant model. In barrow, the SNP was significantly associated with CIE a, drip loss, and $pH_{24hr}$, whereas in gilt, only a significant relationship with moisture content was observed. GG genotype pigs had a higher $pH_{24hr}$ and lower drip loss. Because $pH_{24hr}$ and drip loss are considered the most important meat quality traits, GG genotype pork is high-quality meat compared to that from other genotypes. In conclusion, the SNP in the ECI2 gene is significantly associated with several meat quality traits. These traits and could be as genetic markers in molecular breeding programs for improving meat quality.

A Review of Ecological Niche Theory from the Early 1900s to the Present (생태적 지위(Ecological Niche) 이론에 대한 검토 및 제언)

  • Koo, Kyung Ah;Park, Seon-Uk
    • Korean Journal of Environment and Ecology
    • /
    • v.35 no.4
    • /
    • pp.316-335
    • /
    • 2021
  • This study reviewed the change of theory of ecological niche(concepts and definitions) over time to provide a theoretical basis for habitat-related studies of animals and plants. Accordingly, it analyzed and summarized the major discussion trends of ecological niche worldwide in each period from the 1900s to the present. Countries advanced in ecological studies, such as the EU and the USA, have conducted theoretical and empirical studies on the ecological niche since the early 1990s. The concept of the ecological niche was introduced in the early 1900s, developed in the mid-1900s, and advanced from the mid-1900s to the late 1900s. Since the 2000s, the advanced concept has diversified with new developments in technologies and research methods. The factors suggested by theoretical and empirical studies in defining the ecological niche of a species include 1) population dynamics of the target species, 2) all biotic conditions to sustain a population (food relationship and material flow in the food chain), 3) all non-biotic conditions to sustain a population (physical environmental conditions), 4) all direct and indirect interactions between these environmental factors, and 5) response and adaptation mechanisms that include the migratory ability of the target species or genetic diversity and adaptability to change. Unlike such international advancement, there have not been sufficient theoretical, philosophical, and empirical studies of ecological niche in Korea. The concepts and definitions by Greennell, Elton, and Hutchinson were selectively and partially borrowed for empirical studies without full description. Considering that the theory of ecological niche becomes the foundation for habitat-based species conservation and restoration, it is necessary to seek diversification and advancement of theoretical and empirical research and research methods and technological development. It will provide an important foundation for the academic advancement of ecology and for establishing and implementing policies to preserve and restore ecology and biodiversity effectively and successfully in Korea.

Studies on Genetice of Blast Resistance in Rice L Inheritance of Resistance to Specific Races of Blast Fungus and Relationship between Their Resistance and II, VIII, XI and XII Linkage Groups in Some Rice Varieties (수도품종의 도열병 저항성 유전분석 제1보 특정 도열병 균계에 대한 저항성 품종들의 저항성 유전분리와 II, VIII, XI 및 XII번 연관과의 관계)

  • Chae, Y.A.;Park, S.Z.;Ha, S.B.
    • KOREAN JOURNAL OF CROP SCIENCE
    • /
    • v.26 no.1
    • /
    • pp.32-39
    • /
    • 1981
  • In order to study the genetic system of the blast resistant varieties, the conidial suspension of mutant races of T-2$^{+t}$, N-2$^{+t}$, C-8$^{+t}$ was inoculated at 4-5 leaf stage by injector for F_2 seedlings from the crosses between seven resistant varieties and four maker lines easily detectable at seedling stage. The results are summarized as follows; 1. The fertility of cross between Semi-dwaf testers and Indica resistant varieties except Carreon was about 74 percents. 2. The segregation modes of resistance varied with varieties and blast races. However, the resistance was expressed as dominance in all cases. Tetep, Tadukan and Carreon showed more complicated segregation for resistance than that of the bred lines. 3. For blast races used, four segregation ratios such as 3:1, 9:7, 13:3 and 37:27 were found in the Tatukan, Tetep, and IR747, and three segregation ratios such as 3:1, 13:3 and 15:1 in the Carreon, and two segregation ratios of 3:1 and 13:3 with Suweon 287, Suweon 288, and Iri342. 4. In the segregation of the resistance to the each races, the ratios of 3:1, 13:3, 15:1 were fitted to T-2$^{+t}$, and the ratios of 3:1, 13:3, 9:7 and 37:27 to N-2$^{+t}$ and C-8$^{+t}$. 5. Suweon 287, Suweon 288 and Iri342 carried one simple dominant gene and inhibitor gene was considered in some cross combinations. Meanwhile Tadukan, Tetep and IR747 seemed to carry one to three resistant genes, and in some cross combinations, the expression of these genes were simple dominant, inhibiting, duplicating and complimentary action. 6. Resistance genes to blast races, T-2$^{+t}$, N-2$^{+t}$ and C-8$^{+t}$ in the Tadukan, Tetep, Carreon, Suweon 287, Suweon 288 and Iri342 were found to be independent with the linkage group of II(lg), VIII(la), XI(bc), and XII(gl).bc), and XII(gl).

  • PDF

Lived experience of mothers who have child with cerebral palsy (뇌성마비아 어머니의 경험)

  • Lee Hwa Za;Kim Yee Soon;Lee Gee Won;Gwan Soo Za;Kang In Soon;An Hea Gyung
    • Child Health Nursing Research
    • /
    • v.2 no.1
    • /
    • pp.93-111
    • /
    • 1996
  • The purpose of the study is to identify the lived experience of mothers who have children with cerebral palsy in order to understand their agony. Moreover, the result of study was to find some nursing intervention for disabled children and their mothers. For this purpose, ten mothers who are willing to cooperate with this research were selected at random from those who have children with the cerebral palsy, currently using the municipal facilities for the handicapped with cerebral malfunction. Data collection was done from October 4, 1994 th December 31, 1994. The data were collected by asking the mothers mentioned above with some unstructured open-ended questions, recorded on the tapes with permission by the interviewee in order to prevent missing of the interviewed contents. These collected data have been substantiated and properly analyzed on the basis of phenomenological approach initiated by Colaizzi's method. The results and validity are proved to be credible by means of the individual checking of the interviewed mothers. The results of this study are as follows : 1. When the mother is first informed of the diagnosis of cerebral palsy on her child, she usually misses the crucial timing needed for proper treatment of the child's disorder because she is notified through the doctor's indifference and his apparently inactive, matter-of-fact attitude. At first she suspects the doctor's diagnosis and tries to attribute it to the unknown cause from a certain genetic problem and then she quickly wants to deny the whole situation that her child is really suffering from the cerebral palsy. The reality is too much for her to accept as it is and she would not believe her child is abnormal. Therefore, she even attempts depend on the power of God for its solution. 2. The mother, who goes thorough this kind of uncommon experiences, is totally devoted to the treatment and care of the child and completely ignores her own life and happiness. At the same time, she feels sorry for her other normal children she believes having not enough care and concern. Also, she feels sorry for the sick child when the child's brothers or sisters show special concern for the patient out of sympathy. It is sorry and not satisfied for her that the child is growing with abnormality and neighbor other around have inappropriate attitudes. Likewise, she is discontent with her husband's lack of concern about the child's treatment. She believes that the health care system in this society isn't fulfilling its due purpose. In the state of her utmost distress and anxiety, she always feels the need of competent consultants, and is angry about that her child is treated as an abnormal being, she is trying to hide the child from other people and to make him or her disappear, if possible. Although she doesn't have harmonious relation with her husband, she id happy when he shows his affection for the child and she feels relieved and thankful when the relatives don't mention about the child's condition Since the child's overall status of health is continuously in unstable conditions, requiring her all-time readiness for an emergency, she feels guilty of her child's illness toward the fEmily members as if it was her own fault to have borne such an abnormal child and she feels responsible for the child morally and financially if necessary Because her life is centered on taking care of the child, she cannot afford to enjoy her own life and happiness. She is a lonely mother, fatigued, with no proper relationship with other people around her. With this sense of guilt and responsibility as a mother of an unusual disease, she has no choice but to grieve her destiny from which she is not allowed to escape. 3. Nevertheless, the mother with the child suffering from the cerebral palsy does not easily give up the hope of getting her child cured and she believes that in the long run, though slower than hoped, her abnormal son or daughter will be eventually cured to become a normal sibling someday. This kind of hope is sustained by the mother's strong faith coming from observing the progress of other similar children getting better. Sometimes she is encouraged to have this faith by other mothers who share the same painful experiences, believing that her child will improve even more rapidly than others with the same palsy. Full of hope, she painstakingly waits for the child's healing. Moreover, she plans to have another child. she thinks that the patient child's brothers and sisters only can truly understand and look after the patients. However, when she notices that the progress of other children under the treatment does not look so hopeful, she is distressed by the thoughts that her child may never get well. Too, she is worried that the patient's brother or sister will be born as the same invalid with the cerebral disease. She is discouraged to have another baby as much as she is encouraged to. She is also troubled by the thought that in case she has another baby, she will have to be forced. to neglect the patient child, especially when she does have an extra hand or some reliable person to help her with taking care of the patient.

  • PDF

Studies on Ecological Variation and Inheritance for Agronomical Characters of Sweet Sorghum Varieties (Sorghum vulgare PERS) in Korea (단수수(Sorghum vulgare PERS) 품종의 생태변이 및 유용형질의 유전에 관한 연구)

  • Se-Ho Son
    • KOREAN JOURNAL OF CROP SCIENCE
    • /
    • v.10
    • /
    • pp.1-43
    • /
    • 1971
  • Experiment I: The objective of this study was to know variation in some selected agronomic characters of sweet sorghum when planted in several growing seasons. The 17 different sweet sorghum varieties having various maturities, and plant, syrup and sugar types were used in this study which had been carried out for the period of two years from 1968 to 1969 at Industrial Crops Division of Crop Experiment Station in Suwon. These varieties were planted at an interval of 20 days from April 5 to August 25 both in 1968 and 1969. The experimental results could be summarized as follows: 1. As planting was made early, the number of days from sowing to germination was getting prolonged while germination took place early when planted at the later date of which air temperature was relatively higher. However, such a tendency was not observed beyond the planting on August 25. In general, a significant negative correlation was found between the number of days from sowing to germination and the average daily temperature but a positive correlation was found between the former and the total accumulated average temperature during the growth period. 2. The period from sowing to heading was generally shortened as planting was getting delayed. The average varietal difference in number of days from sowing to heading was as much as 30.2 days. All the varieties were grouped into early-, medium and late-maturing groups based upon a difference of 10 days in heading. The average number of days from sowing to heading was 78.5$\pm$4.5 days in the early-maturing varieties, 88.5$\pm$4.5 days in the medium varieties and 98.5$\pm$4.5 days in the late-maturing varieties, respectively. The early-maturing varieties had the shortest period to heading when planted from July 15 to August 5, the medium varieties did when planted before July 15 and the late-maturing varieties did when planted before June 5. 3. The relationship between the sowing date (x) and number of days from sowing to heading could be expressed in an equation of y=a+bx. A highly positive correlation was found between the coefficient of the equation(shortening rate in heading time) and the average number of days from sowing to heading. 4. The number of days from sowing to heading was shortened as the daily average temperature during the growth period was getting higher. Early-maturing varieties had the shortest period to heading at a temperature of 24.2$^{\circ}C$, medium varieties at 23.8$^{\circ}C$ and late-maturing varieties at 22.9$^{\circ}C$, respectively. In other words, the number of days from sowing to heading was shortened rapidly in case that the average temperature for 30 days before heading was 22$^{\circ}C$ to $25^{\circ}C$. It prolonged relatively when the temperature was lower than 21$^{\circ}C$. 5. There was a little difference in plant height among varieties. In case of early planting, no noticeable difference in the height was observed. The plant height shortened generally as planting season was delayed. Elongation of plant height was remarkably accelerated as planting was delayed. This tendency was more pronounced in case of early-maturing varieties rather than late-maturing varieties. As a result, the difference in plant height between the maximum and the minimum was greater in late-maturing varieties than in early-maturing varieties. 6. Diameter of the stalk was getting thicker as planted earlier in late-maturing varieties. On the other hand, medium or early-maturing varieties had he thickest diameter when they were planted on April 25. 7. In general, a higher stalk yield was obtained when planted from April 25 to May 15. However, the planting time for the maximum stalk yield varied from one variety to another depending upon maturity of variety. Ear]y-maturing varieties produced the maximum yield when planted about April 25, medium varieties from April 25 to May 15 and late-maturing varieties did when planted from April 5 to May 15 respectively. The yield decreased linearly when they were planted later than the above dates. 8. A varietal difference in Brix % was also observed. The Brix % decreased linearly when the varieties were planted later than May 15. Therefore, a highly negative relationship between planting date(x) and Brix %(y) was detected. 9. The Brix % during 40 to 45 days after leading was the highest at the 1st to the 3rd internodes from the top while it decreased gradually from the 4th internode. It increased again somewhat at the 2nd internode from the ground level. However, it showed a reverse relationship between the Brix % and position of internode before heading. 10. Sugar content in stalk decreased gradually as planting was getting delayed though one variety differed from another. It seemed that sweet sorghum which planted later than June had no value as a sugar crop at all. 11. The Brix % and sugar content in stalk increased from heading and reached the maximum 40 to 45 days after heading. The percentage of purity showed the same tendency as the mentioned characters. Accordingly, a highly positive correlation was observed between. percentage of purity and Brix % or sugar content in stalk. 12. The highest refinable sugar yield was obtained from the planting on April 25 in late-maturing varieties and from that on May 15 in early-maturing varieties. The yield rapidly decreased when planted later than those dates. Such a negative correlation between planting date(x) and refinable sugar yield(y) was highly significant at 1% level. 13. Negative correlations or linear regressions between delayed planting and the number of days from sowing to germination. accumulated temperature during germination period, number of days to heading, accumulated temperature to heading, plant height, stem diameter, stalk weight, Brix %. sugar content, refinable sugar yield or Purity % were obtained. On the other hand, highly positive correlations between the number of days from sowing to heading(x) and Brix %, sugar content, purity %, refinable sugar yield, plant height or stalk yield, between Brix %(x) and purity %, refinable sugar yield or stalk yield, between sugar content(x) and purity% or refinable sugar yield(y), between purity %(x) and refinable sugar yield and between daylength at heading(x) and Brix %. number of days from sowing to heading, sugar content, purity % or refinable sugar yield (y), were found, respectively. Experiment II: The 11 varieties were selected out of the varieties used in Experiment I from ecological and genetic viewpoints. Complete diallel cross were made among them and the heading date, stalk length, stalk yield, Brix %, syrup yield, combining ability and genetic behavior of F$_1$ plants and their parental varieties were investigated. The results could be summarized as follows: 1. In general, number of days to heading showed a partial dominance over earliness or late maturity or had a mid-value, though there were some specific combinations showing a complete dominance or transgressive segregation in maturity. Some combinations showed relatively high general or specific combining abilities in maturity. Therefore, a 50 to 50 segregation ratio in heading date could be estimated in this study and it might be positive to have a selection in early generation since heritability of the character was relatively high. 2. A vigorous hybrid vigor was observed in stalk length. A complete or partial dominant effect of long stalk was obtained. The general combining ability and specific combining ability of stalk length were generally high. Long and short stalks segregated in a ratio of 50:50 and its heritability was relatively low. 3. Except for several specific combinations, high stalk yield seemed to be partial dominant over the low yield. Some varieties demonstrated relatively high general as well as specific combining abilities. It was assumed that several recessive genes were involved in expression of this character. The interaction among regulating recessive genes was also obtained. Accordingly, the heritability of stalk yield seemed to be rather low. 4. The Brix % of hybrid plants located around mid-parental value though some of them showed much higher or lower percentage. It could be explained by the fact that such behavior might be due to partial dominance of Brix %. The varieties with, relatively higher Brix % were high both in general. and specific combining abilities. Therefore, it could be recommended to use the varieties having higher sugar content in order to develop higher-sugar varieties. 5. The syrup yield seemed to be transgressively segregated or completely dominant over low yield. Hybrid vigor of syrup yield was relatively high. No-consistent relationship between general combining ability and specific combining ability was observed. However, some cases demonstrated that the varieties with relatively higher general combining ability had relatively lower specific combining ability. It was assumed that the frequencies of dominant and recessive alleles were almost same.

  • PDF