• Journal of Genetic Medicine
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• 제11권2호
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• pp.49-55
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• 2014

Genetic ultrasonography refers to the evaluation of risk of chromosomal abnormalities via various soft sonographic markers. Although the maternal serum test is the primary screening method for chromosomal abnormalities, genetic ultrasonography is also widely used and can help increase detection rates. To date, many soft markers, including choroid plexus cysts, echogenic intracardiac foci, mild ventriculomegaly, nuchal fold thickening, echogenic bowel, mild pyelectasis, short femur and humerus length, and absent or hypoplastic nasal bone, have been reported. An aberrant right subclavian artery was the most novel soft marker introduced. Because these soft markers involve diverse relative risks of chromosomal abnormalities, it is difficult to apply them to clinical practice. To optimize the efficacy of genetic ultrasonography, it is important to understand the precise relative risks of chromosomal abnormalities innumerous soft markers and integrate these risks with each other and the results of maternal serum screening.

• Journal of Genetic Medicine
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• 제21권1호
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• pp.1-5
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• 2024

Despite advances in the diagnosis and management of rare diseases (RDs), there remains a tendency to overlook adult RD patients. In addition to the considerable number of adult-onset RDs, advances in the diagnosis and management of pediatric RDs have led to an increase in the survival of these patients into adulthood. Adult RDs exhibit distinct features from pediatric counterparts, necessitating careful consideration during medical assessments. Given the extended life expectancy of adult RD patients, precise diagnosis and management strategies can significantly enhance patient outcomes. This review aims to provide an in-depth exploration of the characteristics unique to adult RDs. Special emphasis will be placed on the importance of cascade screening and prenatal genetic testing in the context of adult RDs, highlighting the need for a comprehensive understanding of these aspects in clinical practice.

• Journal of Genetic Medicine
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• 제13권1호
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• pp.26-30
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• 2016

Purpose: Genetic disorders can be prevented by basic public health measures and activities that focus primarily on education and approaches in Primary Health Care. Premarital screening is one such approach that can identify asymptomatic carriers of hemoglobinopathies and provide genetic counseling to couples for a healthy reproductive life. This study aimed to estimate the prevalence of beta thalassemia and sickle cell disorders in the adult population screened as a part of the United Arab Emirates Premarital Screening Program and to measure the effectiveness of the program in decreasing high-risk marriages in Ras Al Khaimah (RAK). Materials and Methods: A retrospective, population-based study was conducted at the RAK Primary Health Care Center, where the National Premarital Screening Program is implemented. The study included data collected from the premarital screening records of all couples who had applied for a marriage license during 2008-2015. Results: Of the 17,826 individuals screened during the studied period, 4.02% (717) were diagnosed as positive for hemoglobinopathies. The prevalence of beta thalassemia and sickle cell disorders among the total study population was 2.98% and 1.05%, respectively. The hemoglobinopathy trait was more prevalent than the disease. Among these 8,913 couples who were issued certificates for compatibility based on screening tests, 28 (0.31%) couples were declared high-risk (unmatched). Seventy percent of these unmatched couples reported consanguineous marriages. Conclusion: The program was successful in achieving its objective of identifying high-risk marriages. In spite of the counseling, however, all of the high-risk couples still married each other.

• Journal of Genetic Medicine
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• 제18권2호
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• pp.117-120
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• 2021

We experienced a case of Xq deletion -- 46,X,del(X)(q22.3) -- detected by abnormal noninvasive prenatal screening, subsequently diagnosed by amniocentesis. Genetic counseling was a challenge because there are few reports of prenatal diagnosis of Xq deletion. In each female cell, one X chromosome is inactivated at random early in development, and there may be a preferential inactivation of the abnormal X chromosome. But some proportions of genes escape inactivation. The most common manifestation in women with Xq deletion is primary or secondary ovarian failure. Critical regions for ovarian function may be located at the long arm of the X chromosome. But, the onset and the severity of ovarian failure may vary with diverse, intricate factors. We anticipate that noninvasive prenatal screening can identify the broader range of chromosomal or genetic abnormalities with the advances in technology and analytic methods. We report our case with a brief review of the literature.

• Biomolecules & Therapeutics
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• 제20권1호
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• pp.19-26
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• 2012

There are many cyclic peptides with diverse biological activities, such as antibacterial activity, immunosuppressive activity, and anti-tumor activity, and so on. Encouraged by natural cyclic peptides with biological activity, efforts have been made to develop cyclic peptides with both genetic and synthetic methods. The genetic methods include phage display, intein-based cyclic peptides, and mRNA display. The synthetic methods involve individual synthesis, parallel synthesis, as well as split-and-pool synthesis. Recent development of cyclic peptide library based on split-and-pool synthesis allows on-bead screening, in-solution screening, and microarray screening of cyclic peptides for biological activity. Cyclic peptides will be useful as receptor agonist/antagonist, RNA binding molecule, enzyme inhibitor and so on, and more cyclic peptides will emerge as therapeutic agents and biochemical tools.

• International Journal of Industrial Entomology and Biomaterials
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• 제7권1호
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• pp.5-10
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• 2003

The nuclear polyhedrosis virus (NPV) resistance of silkworm is controlled by a pair of dominant genes on autosome and micro-effect modificator genes on sex chromosome Z and has the phenomenon of patroclinal inheritance. Based on its hereditary characteristics, methods of preparing near isogenic lines and their $F_2$ populations for screening molecular markers were designed.

• 대한인간공학회지
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• 제20권1호
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• pp.45-62
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• 2001

This study suggests a genetic algorithm-based partial least squares (GA-based PLS) method to select the design variables for building a usability model. The GA-based PLS uses a genetic algorithm to minimize the root-mean-squared error of a partial least square regression model. A multiple linear regression method is applied to build a usability model that contains the variables seleded by the GA-based PLS. The performance of the usability model turned out to be generally better than that of the previous usability models using other variable selection methods such as expert rating, principal component analysis, cluster analysis, and partial least squares. Furthermore, the model performance was drastically improved by supplementing the category type variables selected by the GA-based PLS in the usability model. It is recommended that the GA-based PLS be applied to the variable selection for developing a usability model.

• 한국가금학회지
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• 제50권3호
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• pp.187-191
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• 2023

Korean native ducks (KNDs) continue to have a high preference from consumers due to their excellent meat quality and taste characteristics. However, due to low productivity and fixed plumage color phenotype, it could not secure a large share in the domestic market compared to imported species. In order to improve the market share of KNDs, the genetic characteristics of the breed should be identified and used for improvement and selection. Therefore, this study was conducted to identify the genetic information of colored and white KNDs using next-generation resequencing data and screening for differences between the two groups. As a result of the analysis, the genetic variants that showed significant differences between the colored and white KND groups were mainly identified as mutations related to tyrosine activity. The variants were located in the genes that affect melanin synthesis and regulation, such as EGFR, PDGFRA, and DDR2, and these were reported as the candidate genes related to plumage pigmentation in poultry. Therefore, the results of this study are expected to be useful as a basis for understanding and utilizing the genetic characteristics of KNDs for genetic improvement and selection of white broiler KNDs.

• 한국동물학회:학술대회논문집
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• 한국동물학회 2000년도 공동 춘계학술대회
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• pp.29-30
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• 2000

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• 한국식물생명공학회:학술대회논문집
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• 한국식물생명공학회 2005년도 추계학술대회 및 한일 식물생명공학 심포지엄
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• pp.423-423
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• 2005