• Childhood Kidney Diseases
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• 제25권1호
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• pp.14-21
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• 2021

Chronic kidney disease, the presence of structural and functional abnormalities in the kidneys, is associated with a lower quality of life and increased morbidity and mortality in children. Genetic etiologies account for a substantial proportion of pediatric chronic kidney disease. With recent advances in genetic testing techniques, an increasing number of genetic causes of kidney disease continue to be found. Genetic testing is recommended in children with steroid-resistant nephrotic syndrome, congenital malformations of the kidney and urinary tract, cystic disease, or kidney disease with extrarenal manifestations. Diagnostic yields differ according to the category of clinical diagnosis and the choice of test. Here, we review the characteristics of genetic testing modalities and the implications of genetic testing in clinical genetic diagnostics.

• Asian-Australasian Journal of Animal Sciences
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• 제31권5호
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• pp.636-642
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• 2018

Objective: The objective of this study was to estimate genetic parameters of milk, fat, and protein yields within and across lactations in Tunisian Holsteins using a random regression test-day (TD) model. Methods: A random regression multiple trait multiple lactation TD model was used to estimate genetic parameters in the Tunisian dairy cattle population. Data were TD yields of milk, fat, and protein from the first three lactations. Random regressions were modeled with third-order Legendre polynomials for the additive genetic, and permanent environment effects. Heritabilities, and genetic correlations were estimated by Bayesian techniques using the Gibbs sampler. Results: All variance components tended to be high in the beginning and the end of lactations. Additive genetic variances for milk, fat, and protein yields were the lowest and were the least variable compared to permanent variances. Heritability values tended to increase with parity. Estimates of heritabilities for 305-d yield-traits were low to moderate, 0.14 to 0.2, 0.12 to 0.17, and 0.13 to 0.18 for milk, fat, and protein yields, respectively. Within-parity, genetic correlations among traits were up to 0.74. Genetic correlations among lactations for the yield traits were relatively high and ranged from $0.78{\pm}0.01$ to $0.82{\pm}0.03$, between the first and second parities, from $0.73{\pm}0.03$ to $0.8{\pm}0.04$ between the first and third parities, and from $0.82{\pm}0.02$ to $0.84{\pm}0.04$ between the second and third parities. Conclusion: These results are comparable to previously reported estimates on the same population, indicating that the adoption of a random regression TD model as the official genetic evaluation for production traits in Tunisia, as developed by most Interbull countries, is possible in the Tunisian Holsteins.

• BMB Reports
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• 제43권12호
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• pp.836-841
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• 2010

In the era of personal genomics, predicting the individual response to drug-treatment is a challenge of biomedical research. The aim of this study was to validate whether interaction information between genetic and transcriptional signatures are promising features to predict a drug response. Because drug resistance/susceptibilities result from the complex associations of genetic and transcriptional activities, we predicted the inter-relationships between genetic and transcriptional signatures. With this concept, captured genetic polymorphisms and transcriptional profiles were prepared in cancer samples. By splitting ninety-nine samples into a trial set (n = 30) and a test set (n = 69), the outperformance of relationship-focused model (0.84 of area under the curve in trial set, P = $2.90{\times}10^{-4}$) was presented in the trial set and validated in the test set, respectively. The prediction results of modeling show that considering the relationships between genetic and transcriptional features is an effective approach to determine outcome predictions of drug-treatment.

• 한국발생생물학회지:발생과생식
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• 제25권2호
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• pp.113-121
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• 2021

This article aims to introduce German discussion on the approval of the non-invasive prenatal diagnosis (NIPD), which started with the development of PrenaTest^® by LifeCodexx AG. The discussion started with the concern that the non-invasive nature of NIPD, such as PrenaTest^®, may rapidly expand the use and scope of similar tests, thus leading to a new era of eugenics. Based on this concern, the need for clear clinical guidelines on specific indications for NIPD has been suggested. Along the same line, it was discussed whether PrenaTest^® is against the Basic Law prohibiting discrimination on grounds of disability and whether the test is outside the scope of the purpose of gene testing limited by Genetic Diagnosis Act. Through such discussion, the Federal Ministry of Health of Germany established the preconditions for inclusion of NIPD in the German public health insurance system. For this, the German motherhood guideline was amended and the information for the insured persons provided to pregnant women was included in the amended guideline. Such discussion made in Germany provides insight on which points should be considered when various gene testings are accepted in Korea, in which genetic communication has not been systematized yet. In particular, German counseling system for pregnant women will provide valuable insights for Korea where the direction for regulations on abortion has not been established even after the ruling by the Constitutional Court that charges for abortion are against the constitution.

• 한국작물학회지
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• 제50권4호
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• pp.262-264
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• 2005

A study on genetic variability and association of yield attributing characters with grain yield was carried out using 35 deepwater rice genotypes. High genotypic co-efficient of variation (GCV) was observed for plot yield, $EBT/m^2$, plant height and days to $50\%$ flowering (DFF). For all the traits, estimates of the phenotypic co-efficient of variation (PCV) were higher than GCV, indicating presence of environmental influence. High heritability and genetic advance was observed for plot yield, $EBT/m^2$ and plant height. Plot yield had significant positive association with test weight, $EBT/m^2$ and DFF. However, test weight had the maximum direct effect on grain yield

• 대한본초학회지
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• 제20권2호
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• pp.1-6
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• 2005

Objectives : The purpose of this study is to investigate genetic toxicity of Cervi pantotrichum Cornu herbal acupuncture solution(CPCHA). Methods : In this study, a series of investigation have been carried out to analyze the effects of Cervi pantotrichum Cornu herball acupuncture solution(CPCHA) on colony forming ability of NIH3T3cells, Hela cells and adrenorectal coloncell for genetic toxicity test. Results and Conclusions : From the above results, it is suggested that Cervi pantotrichum Cornu herball acupuncture solution(CPCHA) was limited 0.5-10ug/ml by test. Cervi pantotrichum Cornu herball acupuncture solution(CPCHA) did not exert the protective role to the genetic toxicity in kinds of cell lines used in this study. From these results, Cervi pantotrichum Cornu herbal aqua-acupuncture solution needs further study to prove it's function in cell culture system.

• Toxicological Research
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• 제4권2호
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• pp.131-142
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• 1988

The post-mitochondrial liver fractions (S-9) were prepared from rats and hamsters which have been treated with Aroclor 1254 (PCB) and the capacities of these S-9 fractions to generate mutagenic metabolites from several well known procarcinogens have been compared. Benzo(a)pyrene (B(a)P), 3-methylcholanthrene (3-MC), Aflatoxin B1(AFB1), 2-acetylamino-fluorene(AAF), and 2-aminofluorene (AF) were employed as promutagens in the Salmonella reverse mutation tests. Results showed that the rat and hamster S-9 fractions had differential abilities to produce mutagenic metabolites from a given promutagen.

• 한국동물학회지
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• 제30권4호
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• pp.417-431
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• 1987

Isozyme analysis, morphometric comparison, and artificial hybridization test wereperformed to elucidate the patterns of genic variation, morphological differentiation, genetic incompatibility, and a probable path in speciation between two MDH allelotypes (MM type and MS type) of the Dark Chub Zacco temmincki, a fresh water fish inhabiting in Korean waters. The degree of genic variation of MS type(HD=.023, HG=.021) was twofold higher than that of MM type (HD=.013, HG=.014) but both allelotypes were far less than the average genic variation of fresh water Bish in general. The average genetic similarities among 7 populations of MM type and 6 Populations of MS type were S=.947 and S=.966 respectively, whereas the value between two allelotypes was S=.853. Presumed divergent time of two allelotypes was estimated to be about 700 thousand years ago. Discriminant function analysis based on 18 morphometric characters of 302 specimens representing 12 populations revealed no morphological difference between two allelotypes. Artificial hybridization test indicates that there is an obvious genetic incogpatibility between two allelotypes and therefore it is assumed that isolating mechanism is completed.

• Nuclear Engineering and Technology
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• 제42권4호
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• pp.414-425
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• 2010

In this paper, a procedure is developed for identifying a number of representative solutions manageable for decision-making in a multiobjective optimization problem concerning the test intervals of the components of a safety system of a nuclear power plant. Pareto Front solutions are identified by a genetic algorithm and then clustered by subtractive clustering into "families". On the basis of the decision maker's preferences, each family is then synthetically represented by a "head of the family" solution. This is done by introducing a scoring system that ranks the solutions with respect to the different objectives: a fuzzy preference assignment is employed to this purpose. Level Diagrams are then used to represent, analyze and interpret the Pareto Fronts reduced to the head-of-the-family solutions.

• Management Science and Financial Engineering
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• 제13권1호
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• pp.35-53
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• 2007

We consider a(worst-case) robust optimization version of the Economic Order Quantity(EOQ) model. Order setup costs and inventory carrying costs are assumed to have uncertainty in their values, and the uncertainty description of the two parameters is supposed to be given by an ellipsoidal representation. A genetic algorithm combined with Monte Carlo simulation is proposed to approximate the ellipsoidal representation. The objective function of the model under ellipsoidal uncertainty description is derived, and the resulting problem is solved by another genetic algorithm. Computational test results are presented to show the performance of the proposed method.