• 제목/요약/키워드: Genetic factor

검색결과 1,183건 처리시간 0.03초

The activity of factor VIII and IX of cord blood at mid-trimester in fetuses without hemophilia

  • Choe, David Kwang Yong;Oh, Jeong Won;Jun, Jong Kwan;Choi, Young Min
    • Journal of Genetic Medicine
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    • 제13권2호
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    • pp.89-94
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    • 2016
  • Purpose: Molecular genetic analysis is the main approach used for prenatal diagnosis of hemophilia A and B. However, in certain cases, such analysis is uninformative. In such situations, direct measurement of fetal coagulation factor levels is still the best option, and it may be the only option in some cases. This study was conducted to determine the normal ranges of mid-trimester cord blood factor VIII (FVIII) and IX (FIX) in a Korean population. Materials and Methods: Twenty-six FVIII samples and 29 FIX samples were assayed in fetal cord blood acquired by ultrasound-guided cordocentesis. Sampling was conducted during gestational ages of 19-24 weeks. Results: The mean and standard deviations for FVIII and FIX activity were $45.5{\pm}30.5%$ and $19.9{\pm}12.2%$, respectively. Ranges for FVIII and FIX were 1.5-125.0% and 6.0-52.0%, respectively. Conclusion: Our study revealed the normal ranges and lowest level of factor VIII and factor IX in non-affected normal fetus by fetal cord blood sampling during the mid-trimester in a Korea population. The factor assay of the fetal cord blood is invasive but feasible and provides important basic data related to hemophilia.

Molecular Cloning, Phylogenetic Analysis, Expressional Profiling and In Vitro Studies of TINY2 from Arabidopsis thaliana

  • Wei, Gang;Pan, Yi;Lei, Juan;Zhu, Yu-Xian
    • BMB Reports
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    • 제38권4호
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    • pp.440-446
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    • 2005
  • A cDNA that was rapidly induced upon abscisic acid, cold, drought, mechanical wounding and to a lesser extent, by high salinity treatment, was isolated from Arabidopsis seedlings. It was classified as DREB subfamily member based on multiple sequence alignment and phylogenetic characterization. Since it encoded a protein with a typical ERF/AP2 DNA-binding domain and was closely related to the TINY gene, we named it TINY2. Gel retardation assay revealed that TINY2 was able to form a specific complex with the previously characterized DRE element while showed only residual affinity to the GCC box. When fused to the GAL4 DNA-binding domain, either full-length or its C-terminus functioned effectively as a trans-activator in the yeast one-hybrid assay while its N-terminus was completely inactive. Our data indicate that TINY2 could be a new member of the AP2/EREBP transcription factor family involved in activation of down-stream genes in response to environmental stress.

Epidemiology, Major Risk Factors and Genetic Predisposition for Breast Cancer in the Pakistani Population

  • Shaukat, Uzma;Ismail, Muhammad;Mehmood, Nasir
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권10호
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    • pp.5625-5629
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    • 2013
  • Occurrence of breast cancer is related to genetic as well as cultural, environmental and life-style factors. Variations in diversity of these factors among different ethnic groups and geographical areas emphasize the immense need for studies in all racial-ethnic populations. The incidence of breast cancer in Pakistan is highest in Asians after Jews in Israel and 2.5 times higher than that in neighboring countries like Iran and India, accounting for 34.6% of female cancers. The Pakistani population is deficient in information regarding breast cancer etiology and epidemiology, but efforts done so far had suggested consanguinity as a major risk factor for frequent mutations leading to breast cancer and has also shed light on genetic origins in different ethnic groups within Pakistan. World-wide research efforts on different ethnicities have enhanced our understanding of genetic predisposition to breast cancer but despite these discoveries, 75% of the familial risk of breast cancer remains unexplained, highlighting the fact that the majority of breast cancer susceptibility genes remain unidentified. For this purpose Pakistani population provides a strong genetic pool to elucidate the genetic etiology of breast cancer because of cousin marriages. In this review, we describe the known breast cancer predisposition factors found in the local Pakistani population and the epidemiological research work done to emphasize the importance of exploring factors/variants contributing to breast cance, in order to prevent, cure and decrease its incidence in our country.

Genetic diversity of the threatened Saussurea dorogostaiskii (Asteraceae) in the Khuvsgul region of Mongolia

  • Nudkhuu NYAMGEREL;Shukherdorj BAASANMUNKH;Batlai OYUNTSETSEG;Dashzeveg OYUNTSETSEG;Joscelyn NORRIS;Hyeok Jae CHOI;Gun-Aajav BAYARMAA
    • 식물분류학회지
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    • 제53권1호
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    • pp.14-24
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    • 2023
  • Saussurea dorogostaiskii Palib. (Asteraceae) is a critically endangered medicinal plant in Mongolia and Russia. We studied the genetic variation of S. dorogostaiskii from three mountains of northern Mongolia. The genetic profile was assessed in 70 individuals from eight populations using five inter-simple sequence repeat markers, producing 53 loci with 96.4% polymorphism across all bands. Shannon's index (I) and Nei's gene diversity (H) value at the species level of S. dorogostaiskii are 0.25 and 0.17, respectively. An AMOVA showed high genetic variation among the populations (22% of populations and 32% of mountains), consistent with the high genetic differentiation (GST = 0.49) and low gene flow (Nm = 0.51) in S. dorogostaiskii populations. Eight populations were clustered into two groups, corresponding to their geographic locations. The low within-population genetic diversity and high genetic differentiation among S. dorogostaiskii populations factor into their endangered designation. This genetic analysis reveals that all populations are equally threatened, and community-based conservation is appropriate for these species.

Optimal Internet Worm Treatment Strategy Based on the Two-Factor Model

  • Yan, Xiefei;Zou, Yun
    • ETRI Journal
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    • 제30권1호
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    • pp.81-88
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    • 2008
  • The security threat posed by worms has steadily increased in recent years. This paper discusses the application of the optimal and sub-optimal Internet worm control via Pontryagin's maximum principle. To this end, a control variable representing the optimal treatment strategy for infectious hosts is introduced into the two-factor worm model. The numerical optimal control laws are implemented by the multiple shooting method and the sub-optimal solution is computed using genetic algorithms. Simulation results demonstrate the effectiveness of the proposed optimal and sub-optimal strategies. It also provides a theoretical interpretation of the practical experience that the maximum implementation of treatment in the early stage is critically important in controlling outbreaks of Internet worms. Furthermore, our results show that the proposed sub-optimal control can lead to performance close to the optimal control, but with much simpler strategies for long periods of time in practical use.

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A Combinatorial Optimization for Influential Factor Analysis: a Case Study of Political Preference in Korea

  • Yun, Sung Bum;Yoon, Sanghyun;Heo, Joon
    • 한국측량학회지
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    • 제35권5호
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    • pp.415-422
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    • 2017
  • Finding influential factors from given clustering result is a typical data science problem. Genetic Algorithm based method is proposed to derive influential factors and its performance is compared with two conventional methods, Classification and Regression Tree (CART) and Chi-Squared Automatic Interaction Detection (CHAID), by using Dunn's index measure. To extract the influential factors of preference towards political parties in South Korea, the vote result of $18^{th}$ presidential election and 'Demographic', 'Health and Welfare', 'Economic' and 'Business' related data were used. Based on the analysis, reverse engineering was implemented. Implementation of reverse engineering based approach for influential factor analysis can provide new set of influential variables which can present new insight towards the data mining field.

Studies on the Epitope of Neuronal Growth Inhibitory Factor (GIF) with Using of the Specific Antibody

  • Pang, Li-Yan;Ru, Bing-Gen
    • BMB Reports
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    • 제38권6호
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    • pp.646-649
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    • 2005
  • Human neuronal growth inhibitory factor (GIF), a metalloprotein classified as metallothionein-3, is specifically expressed in mammal central nervous system (CNS). In these Studies the specific antibody to human GIF was prepared and used to search the epitope of human GIF by enzyme-linked immunosorbent assay (ELISA) and sequence comparison. The result of ELISA showed the epitope of human GIF may locate on a octapeptide (EAAEAEAE) in the $\alpha$-domain of human GIF, and the result of nerve cell culture indicated that the biological activity of GIF may be affected by the specific antibody.

Optimal Design of Low-Speed Secondary-Sheet Single-Sided Linear Induction Motor

  • Shiri, Abbas;Shoulaie, Abbas
    • Journal of Electrical Engineering and Technology
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    • 제8권3호
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    • pp.581-587
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    • 2013
  • Among different linear motors, single-sided linear induction motors have been widely used in industry due to their simplicity and low construction cost. However, these types of motors suffer from low efficiency and power factor. In this paper, an effective procedure is proposed to design single-sided linear induction motors. The designed motor is simulated in MATLAB software in order to investigate the effect of design parameters on the performance of the machine. Regarding the obtained results, the Genetic Algorithm is employed to optimize the design considering product of efficiency and power factor as objective function. The results show significant improvement of the performance. Finally, experimental results and 2D finite element method is used to validate the model parameters and the optimization results.

Genetic Diversity and Relationships of Korean Chicken Breeds Based on 30 Microsatellite Markers

  • Suh, Sangwon;Sharma, Aditi;Lee, Seunghwan;Cho, Chang-Yeon;Kim, Jae-Hwan;Choi, Seong-Bok;Kim, Hyun;Seong, Hwan-Hoo;Yeon, Seong-Hum;Kim, Dong-Hun;Ko, Yeoung-Gyu
    • Asian-Australasian Journal of Animal Sciences
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    • 제27권10호
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    • pp.1399-1405
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    • 2014
  • The effective management of endangered animal genetic resources is one of the most important concerns of modern breeding. Evaluation of genetic diversity and relationship of local breeds is an important factor towards the identification of unique and valuable genetic resources. This study aimed to analyze the genetic diversity and population structure of six Korean native chicken breeds (n = 300), which were compared with three imported breeds in Korea (n = 150). For the analysis of genetic diversity, 30 microsatellite markers from FAO/ISAG recommended diversity panel or previously reported microsatellite markers were used. The number of alleles ranged from 2 to 15 per locus, with a mean of 8.13. The average observed heterozygosity within native breeds varied between 0.46 and 0.59. The overall heterozygote deficiency ($F_{IT}$) in native chicken was $0.234{\pm}0.025$. Over 30.7% of $F_{IT}$ was contributed by within-population deficiency ($F_{IS}$). Bayesian clustering analysis, using the STRUCTURE software suggested 9 clusters. This study may provide the background for future studies to identify the genetic uniqueness of the Korean native chicken breeds.

고품질 한우 생산 유전자 연구에서 환경 요인을 보정한 통계적 모형 제안 (Proposal of statistical model adjusted environmental factor in genetic research for high quality Hanwoo production)

  • 장지은;이제영;오동엽
    • Journal of the Korean Data and Information Science Society
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    • 제26권6호
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    • pp.1397-1407
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    • 2015
  • 개체의 표현형은 대부분 유전적인 요인의 영향과 환경적인 요인의 영향을 모두 받는다. 따라서 한우의 경제적인 특성과 연관이 있는 유전자 마커 선별 연구에서도 관심이 있는 유전적인 요인의 효과를 좀 더 정확히 보기 위해서는 환경적인 요인의 보정이 필요하다. 본 연구의 목적은 고품질 한우 생산을 위한 우수 유전자 마커 선별 연구에서 환경적인 요인이 보정된 새로운 통계 모형을 제안하고 그 효과를 규명하는 데 있다. 먼저 환경적인 요인과 유전적인 요인을 모두 포함한 통계모형을 구축한 뒤, 환경적인 요인인 도축일령과 사육농가의 효과를 제거하여 보정된 경제형질의 값을 구한다. 그리고 다중인자차원축소 방법을 보정 전 후 데이터에 각각 적용하여 우수 유전자 마커 조합을 선별하고 정확도를 비교한다. 사용된 경제형질은 C18:1, SFA, MUFA, MS, CWT, BFT이며 사용된 유전자 마커는 49개 LPL 유전자 마커 중 지방산 조성 및 경제 형질 능력 검정을 통해 나머지에 비해 더 뛰어난 유전자 마커로 선별된 6개 (g.6960 A>T, g.6974 G>A, g.21604 G>A, g.22488 G>T, g.22649 G>A, g.25670 C>T)이다.