• Journal of Genetic Medicine
• /
• 제19권1호
• /
• pp.14-21
• /
• 2022

Complex chromosome rearrangements (CCRs) are structural chromosomal rearrangements involving at least three chromosomes and more than two breakpoints. CCR carriers are generally phenotypically normal but related to higher risk of recurrent miscarriage and having abnormal offspring with congenital anomalies. However, most of CCR carriers are not aware of their condition until genetic analysis of either abortus or affected baby or parental karyotyping is performed. Herein, we present the case that CCR carrier patients can be identified by preimplantation genetic testing of preimplantation embryos. An infertile male patient with severe oligoasthenoteratozoospermia was diagnosed balanced reciprocal translocation, 46,XY,t(3;11) (p26;p14) at first. After attempting the first preimplantation genetic testing for structural rearrangement (PGT-SR) cycle, we found the recurrent segmental gain or loss on 21q21.3-q22.3 of five out of nine embryos. As a result of karyotype re-analysis, the patient's karyotype showed a balanced CCR involving chromosomes 3, 11, and 21 with three breakpoints 3p26, 11p14, and 21q21. The patient underwent two PGT-SR cycles, and a pregnancy was established after the transfer of an euploid embryo in the second cycle. Amniocentesis confirmed that the baby carried normal karyotype without mosaicism. At 37 weeks gestation, a healthy girl weighting 3,050 g was born.

• 한국생물정보학회:학술대회논문집
• /
• 한국생물정보시스템생물학회 2005년도 BIOINFO 2005
• /
• pp.151-155
• /
• 2005

Recently, systems biology has been increasingly applied to gain insights into the complexity of living organisms. Many inaccessible biological information and hidden evidences fur example flux distribution of the metabolites are simply revealed by investigation of artificial cell behaviors. Most bio-models are models of single cell organisms that cannot handle the multi-cellular organisms like plants. Herein, a structured and multi-cellular model of potato was developed to comprehend the root starch biosynthesis. On the basis of simplest plant cell biology, a potato structured model on the platform of Berkley Madonna was divided into three parts: photosynthetic (leaf), non-photosynthetic (tuber) and transportation (phloem) cells. The model of starch biosynthesis begins with the fixation of CO$_2$ from atmosphere to the Calvin cycle. Passing through a series of reactions, triose phosphate from Calvin cycle is converted to sucrose which is transported to sink cells and is eventually formed the amylose and amylopectin (starch constituents). After validating the model with data from a number of literatures, the results show that the structured model is a good representative of the studied system. The result of triose phosphate (DHAP and GAP) elevation due to lessening the aldolase activity is an illustration of the validation. Furthermore, the representative model was used to gain more understanding of starch production process such as the effect of CO$_2$ uptake on qualitative and quantitative aspects of starch biosynthesis.

• Asian-Australasian Journal of Animal Sciences
• /
• 제28권9호
• /
• pp.1244-1251
• /
• 2015

A herd of Berkshire pigs was established in 2003 and subjected to selection without introduction of any genetic resources until 2007. The complete pedigree, including 410 boars and 916 sows, as well as the records from 5,845 pigs and 822 litters were used to investigate the results obtained from the selections. The index of selection for breeding values included days to 90 kg (D90kg), backfat thickness (BF) and number of piglets born alive (NBA). The average inbreeding coefficients of pigs were found to be 0.023, 0.008, 0.013, 0.025, 0.026, and 0.005 from 2003 to 2007, respectively. The genetic gains per year were 12.1 g, -0.04 mm, -3.13 days, and 0.181 head for average daily gain (ADG), BF, D90kg, and NBA, respectively. Breeding values of ADG, BF and D90kg were not significantly correlated with inbreeding coefficients of individuals, except for NBA (-0.21). The response per additional 1% of inbreeding was 0.0278 head reduction in NBA. The annual increase of inbreeding was 0.23% and the annual decrease in NBA due to inbreeding was 0.0064 head. This magnitude could be disregarded when compared with the annual gain in NBA (0.181 head). These results suggest that inbreeding and inbreeding depression on ordinary farms can be controlled with a proper breeding scheme and that breeding programs are economical and safe relative to the risks associated with importation of pigs.

• 한국지능시스템학회논문지
• /
• 제14권5호
• /
• pp.593-597
• /
• 2004

본 논문은 비선형 시스템의 새로운 퍼지 제어기 설계 기법을 제안한다. 기존의 퍼지 제어기 설계 방법들은 안정도 조건을 만족시키는 제어 이득을 얻기 위해 수학적인 접근을 통해 해를 찾는 방법들이 많이 연구되었다 하지만 플랜트와 제어 방법에 따라 이러한 수학적인 접근이 힘든 경우가 있다 본 논문에서는 이를 해결하기 위해 깊은 수학적인 접근이 아닌 지능적인 접근 방법을 사용하여 안정화된 퍼지 제어기의 설계하는 기법을 제안한다. 제안된 기법은 퍼지 제어기의 안정화 조건을 만족시키는 제어 이득을 전략 기반 유전 알고리즘을 사용하여 동정한다 전략 기반 유전 알고리즘은 제어기의 안정화 조건을 만족시키는 해를 찾기 위해 전략적으로 교차와 돌연변이를 변화시킨다. 전력 기반 유전 알고리즘은 제어기의 안정화 조건을 만족시키는 해를 찾기 위해 전략적으로 교차와 돌연변이 영역을 변화시킴으로서 빠르게 해를 찾는다. 최종적으로 모의 실험을 통해 제안된 기법의 우수성을 확인하였다.

• International Journal of Industrial Entomology and Biomaterials
• /
• 제10권2호
• /
• pp.95-99
• /
• 2005

A breeding plan was carried out on four commercial strains of silkworm (Bombyx mori L.) 101, 102, 103 and 104 to improve some important traits. Genetic gain or response to selection $({\Delta}G)$, heritability of cocoon shell weight (CSW) and specific combining ability effects were estimated to determine the strains that can be improved. Strain 101 had lowest heritabitity, ${\Delta}G$ and viability. Strain 102 was acceptable in selection response but its viability was low. Therefore these two strains were not suitable for more selection. As a result, only lines 103 and 104 were chosen for further improvement. Intra population selection based on independent culling level method practiced from third to sixth generation for both productive and viability traits simultaneously. While CSW and CW had increasingly enhanced during primary generations, they went slightly up after third generation. According to negative genetic correlation, viability decreased during primary generations, but after third generation that paid attention to balanced development of both productive and viability traits, viability increased so that the pupation rate reached to $91\%$ in 103 and $97\%$ in 104 for last generation $(G_8)$.

• Asian Pacific Journal of Cancer Prevention
• /
• 제16권6호
• /
• pp.2107-2117
• /
• 2015

Thyroid cancer is the most common endocrine neoplasia. The medullary thyroid carcinoma (MTC) is one of the most aggressive forms of thyroid malignancy,accounting for up to 10% of all types of this disease. The mode of inheritance of MTC is autosomal dominantly and gain of function mutations in the RET proto-oncogene are well known to contribute to its development. MTC occurs as hereditary (25%) and sporadic (75%) forms. Hereditary MTC has syndromic (multiple endocrine neoplasia type 2A, B; MEN2A, MEN2B) and non-syndromic (Familial MTC, FMTC) types. Over the last two decades, elucidation of the genetic basis of tumorigenesis has provided useful screening tools for affected families. Advances in genetic screening of the RET have enabled early detection of hereditary MTCs and prophylactic thyroidectomy for relatives who may not show any symptom sof the disease. In this review we emphasize the main RET mutations in syndromic and non syndromic forms of MTC, and focus on the importance of RET genetic screening for early diagnosis and management of MTC patients, based on American Thyroid Association guidelines and genotype-phenotype correlation.

• 제어로봇시스템학회논문지
• /
• 제13권5호
• /
• pp.399-405
• /
• 2007

This paper deals with the controller for a stable walking of a humanoid robot using genetic algorithm. A humanoid robot has instability during walking because it isn't fixed on the ground, and its nonlinearities of the joints increase its instability. If controller isn't robust, the robot may fall down at the ground during walking because of its nonlinearities. To solve this problem, robust controller is required to reduce the effect of nonlinearities and to gain the good tracking performance. In this paper, motion controller that is based on fuzzy-sliding mode controller is proposed. This controller can remove the effect of the saturation by limitation of the input voltage. It also includes compensator for reducing the effect of the nonlinearity by backlash and PI controller improving the tracking performance. In here, genetic algorithm is used for searching the optimal gains of the controller. From the given controller, a humanoid robot can moved more preciously. All the processes are investigated through simulations and are verified experimentally in a real joint system for a humanoid robot.

• EDISON SW 활용 경진대회 논문집
• /
• 제4회(2015년)
• /
• pp.484-487
• /
• 2015

The purpose of this study is designing a daily diet according to the nutrition by using genetic algorithms. The ratio of the amount of nutrients needed for each individual is different. For example, people who want to lose, maintain or gain the weight need different amount of nutrition and ratio. In addition, the nutrition should be different between the age groups such as child, youth and senior. So, it is important for each person to individualize content of nutrition that they need not the nutritional standard table. Thus, in this study, by using the genetic algorithm, our study is about the program that can make a daily diet which is optimized for individual. The program has the information of main dish, soup and side dish that we entered before. And person who uses the program can see the daily diet which is optimized related by nutrition what the person entered before. Generally, it is really difficult to design a meal by considering all of the nutrition at home because there are a lot of things to be considered. Therefore, the goal of our study is to make the program what can make a balanced daily diet at home.

• Journal of Preventive Medicine and Public Health
• /
• 제42권6호
• /
• pp.360-370
• /
• 2009

Genetic factors clearly play a role in carcinogenesis, but migrant studies provide unequivocal evidence that environmental factors are critical in defining cancer risk. Therefore, one may expect that the lower availability of substrate for biochemical reactions leads to more genetic changes in enzyme function; for example, most studies have indicated the variant MTHFR genotype 677TT is related to biomarkers, such as homocysteine concentrations or global DNA methylation particularly in a low folate diet. The modification of a phenotype related to a genotype, particularly by dietary habits, could support the notion that some of inconsistencies in findings from molecular epidemiologic studies could be due to differences in the populations studied and unaccounted underlying characteristics mediating the relationship between genetic polymorphisms and the actual phenotypes. Given the evidence that diet can modify cancer risk, gene-diet interactions in cancer etiology would be anticipated. However, much of the evidence in this area comes from observational epidemiology, which limits the causal inference. Thus, the investigation of these interactions is essential to gain a full understanding of the impact of genetic variation on health outcomes. This report reviews current approaches to gene-diet interactions in epidemiological studies. Characteristics of gene and dietary factors are divided into four categories: one carbon metabolism-related gene polymorphisms and dietary factors including folate, vitamin B group and methionines; oxidative stress-related gene polymorphisms and antioxidant nutrients including vegetable and fruit intake; carcinogen-metabolizing gene polymorphisms and meat intake including heterocyclic amins and polycyclic aromatic hydrocarbon; and other gene-diet interactive effect on cancer.

• International Journal of Computer Science & Network Security
• /
• 제22권1호
• /
• pp.167-174
• /
• 2022

In metaheuristic algorithms such as Genetic Algorithm (GA), initial population has a significant impact as it affects the time such algorithm takes to obtain an optimal solution to the given problem. In addition, it may influence the quality of the solution obtained. In the machine learning field, feature selection is an important process to attaining a good performance model; Genetic algorithm has been utilized for this purpose by scientists. However, the characteristics of Genetic algorithm, namely random initial population generation from a vector of feature elements, may influence solution and execution time. In this paper, the use of a statistical algorithm has been introduced (Chi2) for feature relevant checks where p-values of conditional independence were considered. Features with low p-values were discarded and subject relevant subset of features to Genetic Algorithm. This is to gain a level of certainty of the fitness of features randomly selected. An ensembled-based learning model for Hepatitis has been developed for Hepatitis C stage classification. 1385 samples were used using Egyptian-dataset obtained from UCI repository. The comparative evaluation confirms decreased in execution time and an increase in model performance accuracy from 56% to 63%.