• Title/Summary/Keyword: Mendelian

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Detection of Imprinted Quantitative Traits Loci (QTL) for Reproductive and Growth Traits in Region of IGF II Gene on fig Chromosome (돼지 염색체상의 IGF II 유전자 인접 부위에서 번식 및 성장형질에 연관된 Imprinting 양적형질 유전자 좌위(QTL)의 탐색)

  • Lee, Hakkyo
    • Korean Journal of Animal Reproduction
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    • v.25 no.4
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    • pp.295-304
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    • 2001
  • Characterization of quantitative trait loci (QTL) was investigated in the experimental crosses between Berkshire and Yorkshire breed. A total of 525 F$_2$ progenies from 65 matting of F$_1$ Parents were produced. Phenotypic measurements included average daily gain (ADG), average back fat thickness (ABF), and loin eye area (LEA). To identify the presence of QTL for reproductive performance, birth weight (BWT) and body weight at 16 days (16DAY) were included as indirect trait. QTL segregation was deduced using 8 markers assigned to chromosome 2 (SSC2). Quantitative trait locus analyses were performed using interval mapping by regression under line-cross model. Presence of imprinting was tested under the statistical model that separated the expression of paternally and maternally inherited alleles. To set the evidence of QTL presence, significance thresholds were derived by permutation following statistical tests, respectively. Genome scan revealed significant evidence for three quantitative trait loci (QTL) affecting growth and body compositions, of which two were identified to be QTL with imprinting expression mode near the ICF II gene region. For average back fat thickness (ABF), a paternally expressed QTL was found on chromosome 2 (SSC2). A paternally expressed QTL affecting loin eye area (LEA) was found in the region of SSC2 where evidence of imprinted QTL was found for average back fat thickness (ABF). For average daily gain (ADG), QTL expressed with Mendelian mode was found on chromosome 2 (SS2). Also, QTL affecting average daily gain (ADC), was identified to be expressed with Mendelian express mode.

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A Case Study of the PCK of Middle School Science Teachers on the Mendelian Genetics (멘델 유전에 대한 중학교 과학교사의 PCK 사례 연구)

  • Song, Mi-Ran;Kim, Sung-Ha
    • Journal of Science Education
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    • v.38 no.3
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    • pp.718-736
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    • 2014
  • This study was intended to determine PCK of the middle school science teachers on Mendelian genetics and factors influenced to form their PCKs. Two science teachers with biology major with a teaching experience over 5 years were chosen as the subject. Data were collected by class observation, semi-structured interview, teacher questionnaire survey, Content Representation and Pedagogical and Professional-experience Repertoire. The collected data were analyzed based on Magnusson's PCK for science teaching consisting of five components: (a) the orientation toward teaching science, (b) the knowledge of science curriculum, (c) the knowledge of students' understanding, (d) the knowledge of assessment, and (e) the knowledge and belief in the instructional strategies to teach science. Teachers could have the orientation toward teaching science served as an assisting role to support students' abilities. Both subject teachers seemed to focus on giving lectures. Their efforts to improve students' exploration methods and abilities were not expressed enough in their real classes and they found that students struggled to understand Mendelian genetics. Therefore, they should have explained them in an easier way and worked harder to make their students understood accurately and applied basic and advanced concepts of Mendelian genetics. They found students' preconception and misconception regarding Mendelian genetics and wished to enhance their learning effects by various teaching strategies such as correcting misconception, adding the history of science and simply assessing students' affirmative domains. It was also found that factors influenced to form PCK regarding Mendelian genetics by both teachers were as follows: teacher's personality and endeavor, textbooks and guidance books, schools and their circumstances, teaching experience, experience as a learner, interaction with their colleagues, and university curriculum. Both teachers said that it was important for teachers to make every efforts to give better classes.

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Inheritance and expression of transgene in SOD2-Transgenic petunia descendants and their morphological traits

  • Lee, Su-Young;Han, Bong-Hee;Cho, A-Young
    • Journal of Plant Biotechnology
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    • v.36 no.3
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    • pp.289-293
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    • 2009
  • This study was conducted to determine the inheritance and expression of transgene in descendants ($T_1\;to\;T_2$ generation) of SOD2-transgenic petunia by PCR and RT-PCR analysis. The trangene was segregated as Mendelian inheritance pattern (3:1 or 1:0) in most of $T_1\;and\;T_2$ generation lines. Transgenic homozygous lines were obtained in T2 generation. It was identified that the transgene expressed stably in examined all plants of 6 $T_2$ lines. The representative morphological traits (plant height, flower diameter, and flower color) of $T_2$ plants were compared with those of non-transgenic plants.

Association of coffee consumption with type 2 diabetes and glycemic traits: a Mendelian randomization study

  • Hyun Jeong Cho;Akinkunmi Paul Okekunle ;Ga-Eun Yie ;Jiyoung Youn ;Moonil Kang;Taiyue Jin;Joohon Sung;Jung Eun Lee
    • Nutrition Research and Practice
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    • v.17 no.4
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    • pp.789-802
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    • 2023
  • BACKGROUND/OBJECTIVES: Habitual coffee consumption was inversely associated with type 2 diabetes (T2D) and hyperglycemia in observational studies, but the causality of the association remains uncertain. This study tested a causal association of genetically predicted coffee consumption with T2D using the Mendelian randomization (MR) method. SUBJECTS/METHODS: We used five single-nucleotide polymorphisms (SNPs) as instrumental variables (IVs) associated with habitual coffee consumption in a previous genome-wide association study among Koreans. We analyzed the associations between IVs and T2D, fasting blood glucose (FBG), 2h-postprandial glucose (2h-PG), and glycated haemoglobin (HbA1C) levels. The MR results were further evaluated by standard sensitivity tests for possible pleiotropism. RESULTS: MR analysis revealed that increased genetically predicted coffee consumption was associated with a reduced prevalence of T2D; ORs per one-unit increment of log-transformed cup per day of coffee consumption ranged from 0.75 (0.62-0.90) for the weighted mode-based method to 0.79 (0.62-0.99) for Wald ratio estimator. We also used the inverse-variance-weighted method, weighted median-based method, MR-Egger method, and MR-PRESSO method. Similarly, genetically predicted coffee consumption was inversely associated with FBG and 2h-PG levels but not with HbA1c. Sensitivity measures gave similar results without evidence of pleiotropy. CONCLUSIONS: A genetic predisposition to habitual coffee consumption was inversely associated with T2D prevalence and lower levels of FBG and 2h-PG profiles. Our study warrants further exploration.

Expression in Successive Generations of bar Gene Introduced in Petunia (Petunia에 도입된 bar Gene의 세대진전에 따른 발현 양상)

  • Ha, Young-Min;Park, Sang-Mi;Kim, Zhoo-Hyeon
    • Journal of Plant Biotechnology
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    • v.31 no.4
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    • pp.261-266
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    • 2004
  • This experiment was carried out to confirm the stability of bar gene introduced into petunia plant through Agrobacterium-mediated transformation, in successive generation, or after crossing or back-crossing. Some of different 25 transgenic plants were used in crossing and back-crossing to wild type, or repeated-selfing to T$_4$ generation. On the processing of experiment, it was found that some lines lost their resistant ability to herbicide basta, or showed non-Mendelian segregation mode: produced much more susceptible segregants than resistant plants. Even though there are exceptional cases, which was off from expected, the genetic stability of bar gene introduced could be confirmed strongly, because in almost case, the segregation of resistant and susceptible plants to basta was done under Mendelian-law according to single gene dominant model.

Very Early-Onset Inflammatory Bowel Disease: A Challenging Field for Pediatric Gastroenterologists

  • Arai, Katsuhiro
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.23 no.5
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    • pp.411-422
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    • 2020
  • With the increasing number of children with inflammatory bowel disease (IBD), very early-onset IBD (VEO-IBD), defined as IBD that is diagnosed or that develops before 6 years of age, has become a field of innovation among pediatric gastroenterologists. Advances in genetic testing have enabled the diagnosis of IBD caused by gene mutations, also known as monogenic or Mendelian disorder-associated IBD (MD-IBD), with approximately 60 causative genes reported to date. The diagnosis of VEO-IBD requires endoscopic and histological evaluations. However, satisfactory small bowel imaging studies may not be feasible in this small population. Both genetic and immunological approaches are necessary for the diagnosis of MD-IBD, which can differ among countries according to the available resources. As a result of the use of targeted gene panels covered by the national health insurance and the nationwide research project investigating inborn errors of immunity, an efficient approach for the diagnosis of MD-IBD has been developed in Japan. Proper management of VEO-IBD by pediatric gastroenterologists constitutes a challenge. Some MD-IBDs can be curable by allogenic hematopoietic stem cell transplantation. With an understanding of the affected gene functions, targeted therapies are being developed. Social and psychological support systems for both children and their families should also be provided to improve their quality of life. Multidisciplinary team care would contribute to early diagnosis, proper therapeutic interventions, and improved quality of life in patients and their families.

Sex Determination and Parentage Testing In Miniature Horses (Miniature 말의 성(sex) 결정과 친자감정)

  • Cho Gil-jae;Cho Byung-wook
    • Journal of Life Science
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    • v.15 no.1 s.68
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    • pp.45-48
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    • 2005
  • The aim of this study was to construct a correct pedigree of miniature horses (MH). The sex of MH was detected by PCR amplification of the sex determining region of the Y chromosome gene (SRY) prior to parentage testing. Ten random MH samples for parentage testing were genotyped by using 16 micro satellite markers. Since the SRY band (430 bp) was detected in horses No.1, 2, 6, 7, 8, 9, 10, these are male. However, the DNA segment was not identified in horses No.3, 4, and 5, which therefore are female. After genotyping, parentage testing was performed according to Mendelian fashion and International Society for Animal Genetics (ISAG) guideline. Of the 10 MH, 3 were qualified by the compatibility of 16 markers according to Mendelian fashion in the present DNA typing for parentage verification. These results can provide basic information for developing parentage verification and an individual identification system in MH.

The Biometry-Mendelian Controversy in the History of Statistics (생물측정학-멘델주의 논쟁에 대한 통계학사적 고찰)

  • Jo, Jae-Keun
    • Communications for Statistical Applications and Methods
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    • v.15 no.3
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    • pp.303-324
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    • 2008
  • From mid-1890's, biometricians and Mendelians debated over Darwin's evolutionary theory. Biologist W. Weldon and Mathematician K. Pearson were leaders of the biometric school and biologist W. Bateson led Mendelian school. In this paper topics of the controversy such as causation vs. correlation, frequency distribution are considered. And in relation to the tradition of British statistics, we consider the philosophy of Karl Pearson revealed in this debate. Besides many statistical methods and concepts by Karl Pearson, the newly born mathematical statistics got a new journal Biometrika, a department in university, and a school of researchers from this controversy.

A Study on the Transmission of a Transgene in the Offspring of Transgenic Mice (형질전환 생쥐의 후손에서 외래 유전자의 유전성에 대한 연구)

  • 염행철
    • Korean Journal of Animal Reproduction
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    • v.20 no.4
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    • pp.453-458
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    • 1997
  • It is known that the incorporation of genes into transgenic mice is generally stable and is p passed on to succeeding generations in a Mendelian fashion. In this report, transgenic mice were set as a model to evaluate whether the transgenes are transmitted in a Mendelian principle in a successive generations and how they are tran s smitted into their offspring. A 3.0 kb linear DNA fragment, containing the MMTV LTR, bovine aSI casein cDNA and SV 40 splicing and polyadenylation site; was microinjected into fertilized mouse embryos. The tail DNAs of the resulting pups were subjected to dot and Southern hybridizations to screen transgenic founders. The DNAs of their offspring were anlyzed by PCR to confirm the transmission of the transgene from F0. Out of 72 live pups four pups (5.6%), 3 males and 1 female, were positive for the transgene. The rates of transmission from F0 into F1 were 33.3, 7.7, 0, and 62.5%. Those from F1 into F2 were 63.6, 5.9, and 68.8% and those from F2 into F3 were 85.7, and 88.2%. In this report, the transmission pattern of transgenes in transgenic mice into their offspring was demonstrated. It either follows or does not follow in a Mendelian fashion. Deletion or loss of the transgenes from F0 in some lines became apparant to the succeeding generations.

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