• 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.

• Journal of Genetic Medicine
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• v.7 no.2
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• pp.119-124
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• 2010

More than 7,000 rare Mendelian diseases have been reported, but less than half of all rare monogenic disorders has been discovered. In addition, the majority of mutations that are known to cause Mendelian disorders are located in protein-coding regions. Therefore, exome sequencing is an efficient strategy to selectively sequence the coding regions of the human genome to identify novel genes associated with rare genetic disorders. The "exome" represents all of the exons in the human genome, constituting about 1.5% of the human genome. Exome sequencing is carried out by targeted capture and intense parallel sequencing. After the first report of successful exome sequencing for the identification of causal genes and mutations in Freeman Sheldon syndrome, exome sequencing has become a standard approach to identify genes in rare Mendelian disorders. Exome sequencing is also used to search the causal genes and variants in complex diseases. The successful use of exome sequencing in Mendelian disorders and complex diseases will facilitate the development of personalized genomic medicine.

• 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.

• Journal of Korean Society of Forest Science
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• v.87 no.3
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• pp.422-428
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• 1998

Polymerase chain reaction(PCR)-based inter-simple sequence repeats(I-SSR) markers were analyzed in 48 megagametophytes of a single tree of Abies koreana $W_{ILS}$. Nineteen of the 35 primers, screened with 6 megagametophyte DNA and produced the clearest amplification products in the preliminary experiment, were used for PCR with 48 megagametophyte DNAs sampled from a single tree. On the basis of the chi-square test, a total of 51 amplicons, amplified by the 19 primers, were revealed to be segregated according to the Mendelian ratio(i.e., 1 : 1 segregation ratio) in the 48 megagametophytes at 5% significance level. Based on the linkage analysis, the observed 51 Mendelian loci turned out to be unlinked each other, which suggested that they are evenly distributed in the genome. However, majority of RAPD markers are known to belong to the independent linkage blocks, which frequently results in the amplification of RAPD markers from the restricted regions of the genome. Owing to the nature of even distribution of the 51 loci observed in this study, the I-SSR markers could give better resolution of estimating genetic diversity from the whole genome than RAPD markers. And I-SSR markers are also more suitable than RAPD markers for reconstructing phylogenetic relationship by a cladistic method which requires to fulfil the assumption of independent evolution of the different characters.

• Asian-Australasian Journal of Animal Sciences
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• v.15 no.12
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• pp.1822-1830
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• 2002

The microsatellites are the short tandem repeats of 1 to 6 bp long monomer sequences that are repeated several times. These short tandem repeats are considered to be generated by the slipped strand mispairing. Based on the unique capability of alternating purine-pyrimidine residues to form Z-DNA, the possible role of the microsatellites in gene regulation has been proposed. The microsatellites are highly polymorphic, follow Mendelian inheritance and are evenly distributed throughout the genomes of eukaryotes. They are easy to isolate and the polymerase chain reaction based typing of the alleles can be readily automated. These properties make them the preferred markers for comparison of the genetic structure of the closely related breeds/populations; very high-resolution genetic mapping and parentage testing etc. The microsatellites have rapidly replaced the restriction fragment length polymorphism (RFLP) and the random amplified polymorphic DNA (RAPD) in most applications in the population genetics studies in most species, including the various farm animals viz. cattle, buffalo, goat, sheep and pigs etc. More and more reports are now available describing the use of microsatellites in pigs ranging from measurement of genetic variation between breeds/populations, developing high resolution genetic maps to identifying and mapping genes of biological and economic importance.

• 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.

• 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.

• International Journal of Industrial Entomology and Biomaterials
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• v.3 no.2
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• pp.187-190
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• 2001

Inheritance pattern of resistance to Bombyx mori nuclear polyhedrosis virus (BmNPV) was studied in an Indian silkworm stock TX by single back-cross test method. The resistant parent ［TX］, susceptible parent ［HM］, their Fl, F2, and Fl progeny back-crossed to TX [BC(R)] and HM [BC(S)] were inoculated per os with a fixed concentration of BmNPV($0.5{\times}10^{th} PIB/ml$) on the first day of second stadium. The cumulative mortality was recorded until day $10^{\times}$ post-inoculation. The results show that the resistance to BmNPV in TX fellow mono Mendelian inheritance pattern. The resistance dominated over the susceptibility at Fl. At F2, the resistant and susceptible offspring segregated in 3:1 ratio whereas at BC(S), the resistant and susceptible offspring segregated in 1:1 ratio. The response of BC(R) was more or less like the resistant parent TX which confirms the involvement of a major dominant gene conferring resistance to BmNPV in TX. The possible mechanism of inheritance of resistance in TX is discussed.

• Journal of Genetic Medicine
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• v.20 no.2
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• pp.31-38
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• 2023

Rare diseases, even though defined as fewer than 20,000 in South Korea, with over 8,000 rare Mendelian disorders having been identified, they collectively impact 6-8% of the global population. Many of the rare diseases pose significant challenges to patients, patients' families, and the healthcare system. The diagnostic journey for rare disease patients is often lengthy and arduous, hampered by the genetic diversity and phenotypic complexity of these conditions. With the advent of next-generation sequencing technology and clinical implementation of exome sequencing (ES) and genome sequencing (GS), the diagnostic rate for rare diseases is 25-50% depending on the disease category. It is also allowing more rapid new gene-disease association discovery and equipping us to practice precision medicine by offering tailored medical management plans, early intervention, family planning options. However, a substantial number of patients remain undiagnosed, and it could be due to several factors. Some may not have genetic disorders. Some may have disease-causing variants that are not detectable or interpretable by ES and GS. It's also possible that some patient might have a disease-causing variant in a gene that hasn't yet been linked to a disease. For patients who remain undiagnosed, reanalysis of existing data has shown promises in providing new molecular diagnoses achieved by new gene-disease associations, new variant discovery, and variant reclassification, leading to a 5-10% increase in the diagnostic rate. More advanced approach such as long-read sequencing, transcriptome sequencing and integration of multi-omics data may provide potential values in uncovering elusive genetic causes.

• Korean Journal of Plant Tissue Culture
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• v.27 no.5
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• pp.359-366
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• 2000

Epigenetics represents a chromatin-mediated transcriptional repression which plays a control role in both animal and plant development. A number of different mechanisms have been described to be involved in the formation of chromatin structure: especially DNA methylation, nucleosomal histone modification, DNA replication timing, and binding of chromatin remodelling proteins. Epigenetic phenomena include genomic imprinting, dosage compensation of X-chromosome linked genes, mutual allelic interactions, paramutation, transvection, silencing of invasive DNA sequences, etc. They are often unstable and inherited in a non-Mendelian way. A number of epigenetic defects has been preferentially described in floral development. Here, epigenetic phenomena in model angiosperm plants and their corresponding mechanisms are reviewed.