• Title/Summary/Keyword: Genetic Progress

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Prenatal Genetic Test (산전 유전자 검사)

  • Han, You-Jung;Ryu, Hyun-Mee
    • Journal of Genetic Medicine
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    • v.8 no.2
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    • pp.100-104
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    • 2011
  • Genetic testing has been generalized for the diagnosis of diseases and is an important method of research with advances in the life sciences. In particular, we should give better attention to the genetic test for a fetus. Because the fetus has no autonomy, ethical and social issues can arise. Therefore, appropriate genetic counseling is needed for parents to be informed with the characteristics, natural progress, and possible treatment of a genetic disease, prior to the prenatal genetic test. Physicians should also inform parents how a particular genetic risk factor relates with the likelihood of a disease, in order to assist the parents in making the best decision. Furthermore, the current law for prenatal genetic testing should be approached rationally.

Recent progress in using Drosophila as a platform for human genetic disease research

  • Wan Hee Yoon
    • Journal of Genetic Medicine
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    • v.20 no.2
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    • pp.39-45
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    • 2023
  • As advanced sequencing technologies continue to uncover an increasing number of variants in genes associated with human genetic diseases, there is a growing demand for systematic approaches to assess the impact of these variants on human development, health, and disease. While in silico analyses have provided valuable insights, it is essential to complement these findings with model organism studies to determine the functional consequences of genetic variants in vivo. Drosophila melanogaster is an excellent genetic model for such functional studies due to its efficient genetic technologies, high gene conservation with humans, accessibility to mutant fly resources, short life cycles, and cost-effectiveness. The traditional GAL4-UAS system, allowing precise control of gene expression through binary regulation, is frequently employed to assess the effects of monoallelic variants. Recombinase medicated cassette exchange or CRISPR-Cas9-mediated GAL4 insertion within coding introns or substitution of gene body with Kozak-Gal4 result in the loss-of-function of the target gene. This GAL4 insertion strategy also enables the expression of reference complementary DNA (cDNA) or cDNA carrying genetic variants under the control of endogenous regulatory cis elements. Furthermore, the CRISPR-Cas9-directed tissue-specific knockout and cDNA rescue system provides the flexibility to investigate candidate variants in a tissue-specific and/or developmental-timing dependent manner. In this review, we will delve into the diverse genetic techniques available in Drosophila and their applications in diagnosing and studying numerous undiagnosed diseases over the past decade.

Auxin-responsive SMALL AUXIN UP RNA genes : recent research progress and its application for crop improvement (옥신 반응 SMALL AUXIN UP RNA 유전자의 최근 연구 동향 및 작물 개량을 위한 적용)

  • Lee, Sang Ho
    • Journal of Plant Biotechnology
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    • v.40 no.2
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    • pp.59-64
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    • 2013
  • Auxin is a key plant hormone which regulates overall plant growth development. A number of researches to investigate auxin signaling identified three major classes of early auxin response genes: AUX/IAA, GH3 and SMALL AUXIN UP RNA (SAUR). Among these genes, in planta functions of SAUR gene family are largely ambiguous, while both AUX/IAA and GH3 genes are analyzed to mediate negative feedback on auxin response. SAUR genes encode small plant-specific proteins. SAUR gene products are highly unstable and transiently expressed in the tissue- and developmental-specific manners in response to auxin and various environmental stimuli. In the decades, molecular and genetic approaches to elucidate in planta functions of SAURs have been hampered by several factors such as the unstable molecular features and functional redundancy among them. However, a series of recent studies focusing on several subgroups of SAUR gene family made significant progress in our understanding of its biochemical and physiological functions. These works suggest that many SAUR proteins mainly regulate auxin-related cell expansion and auxin transport. In this review, the recent progress in SAUR research and prospects for crop improvement through its genetic manipulation are discussed.

Astaxanthin in microalgae: pathways, functions and biotechnological implications

  • Han, Danxiang;Li, Yantao;Hu, Qiang
    • ALGAE
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    • v.28 no.2
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    • pp.131-147
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    • 2013
  • Major progress has been made in the past decade towards understanding of the biosynthesis of red carotenoid astaxanthin and its roles in stress response while exploiting microalgae-based astaxanthin as a potent antioxidant for human health and as a coloring agent for aquaculture applications. In this review, astaxanthin-producing green microalgae are briefly summarized with Haematococcus pluvialis and Chlorella zofingiensis recognized to be the most popular astaxanthin-producers. Two distinct pathways for astaxanthin synthesis along with associated cellular, physiological, and biochemical changes are elucidated using H. pluvialis and C. zofingiensis as the model systems. Interactions between astaxanthin biosynthesis and photosynthesis, fatty acid biosynthesis and enzymatic defense systems are described in the context of multiple lines of defense mechanisms working in concert against photooxidative stress. Major pros and cons of mass cultivation of H. pluvialis and C. zofingiensis in phototrophic, heterotrophic, and mixotrophic culture modes are analyzed. Recent progress in genetic engineering of plants and microalgae for astaxanthin production is presented. Future advancement in microalgal astaxanthin research will depend largely on genome sequencing of H. pluvialis and C. zofingiensis and genetic toolbox development. Continuous effort along the heterotrophic-phototrophic culture mode could lead to major expansion of the microalgal astaxanthin industry.

An Algorithm for Generating an Optimal Laser-Torch Path to Cut Multiple Parts with Their Own Set of Sub-Parts Inside (2차부재가 포함된 다수의 1차부재를 가공하기 위한 레이저 토치의 절단경로 최적화 알고리즘)

  • Kwon Ki-Bum;Lee Moon-Kyu
    • Journal of Institute of Control, Robotics and Systems
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    • v.11 no.9
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    • pp.802-809
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    • 2005
  • A hybrid genetic algorithm is proposed for the problem of generating laser torch paths to cut a stock plate nested with free-formed parts each having a set of sub-parts. In the problem, the total unproductive travel distance of the torch is minimized. The problem is shown to be formulated as a special case of the standard travelling salesman problem. The hybrid genetic algorithm for solving the problem is hierarchically structured: First, it uses a genetic algorithm to find the cutting path f3r the parts and then, based on the obtained cutting path, sequence of sub-parts and their piercing locations are optimally determined by using a combined genetic and heuristic algorithms. This process is repeated until any progress in the total unproductive travel distance is not achieved. Computational results are provided to illustrate the validity of the proposed algorithm.

Advances and Problems of Embryo Transfer in Swine (돼지 수정란이식의 현황과 문제점)

  • 박창식
    • Journal of Embryo Transfer
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    • v.5 no.2
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    • pp.11-22
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    • 1990
  • Remarkable progress has recently been made in embryo transfer technology, resulting in the birth of IVF and nuclear transfer offsprings in swine. However, further progress of the technology to (I) make a safe, effective and economic estrual-cycle synchronization compound, (2) regulate each step of sperm capacitation (3) induce monospermic fertilization, (4) in vitro grow and mature oocytes, (5) fertilize the oocytes efficently, (6) culture the oocytes to the blastocyst stage in defined media, (7) produce multiply copies of embryos with superior genetic merit, (8) preselect the sex of these superior offsprings, and (9) preserve embryos by freezing and storage in liquid nitrogen is required before this promising technology is applied routinely to swine for practical use.

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Joint Identification of Multiple Genetic Variants of Obesity in a Korean Genome-wide Association Study

  • Oh, So-Hee;Cho, Seo-Ae;Park, Tae-Sung
    • Genomics & Informatics
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    • v.8 no.3
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    • pp.142-149
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    • 2010
  • In recent years, genome-wide association (GWA) studies have successfully led to many discoveries of genetic variants affecting common complex traits, including height, blood pressure, and diabetes. Although GWA studies have made much progress in finding single nucleotide polymorphisms (SNPs) associated with many complex traits, such SNPs have been shown to explain only a very small proportion of the underlying genetic variance of complex traits. This is partly due to that fact that most current GWA studies have relied on single-marker approaches that identify single genetic factors individually and have limitations in considering the joint effects of multiple genetic factors on complex traits. Joint identification of multiple genetic factors would be more powerful and provide a better prediction of complex traits, since it utilizes combined information across variants. Recently, a new statistical method for joint identification of genetic variants for common complex traits via the elastic-net regularization method was proposed. In this study, we applied this joint identification approach to a large-scale GWA dataset (i.e., 8842 samples and 327,872 SNPs) in order to identify genetic variants of obesity for the Korean population. In addition, in order to test for the biological significance of the jointly identified SNPs, gene ontology and pathway enrichment analyses were further conducted.

Navigating the landscape of clinical genetic testing: insights and challenges in rare disease diagnostics

  • Soo Yeon Kim
    • Childhood Kidney Diseases
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    • v.28 no.1
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    • pp.8-15
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    • 2024
  • With the rapid evolution of diagnostic tools, particularly next-generation sequencing, the identification of genetic diseases, predominantly those with pediatric-onset, has significantly advanced. However, this progress presents challenges that span from selecting appropriate tests to the final interpretation of results. This review examines various genetic testing methodologies, each with specific indications and characteristics, emphasizing the importance of selecting the appropriate genetic test in clinical practice, taking into account factors like detection range, cost, turnaround time, and specificity of the clinical diagnosis. Interpretation of variants has become more challenging, often requiring further validation and significant resource allocation. Laboratories primarily classify variants based on the American College of Medical Genetics and Genomics and the Association for Clinical Genomic Science guidelines, however, this process has limitations. This review underscores the critical role of clinicians in matching patient phenotypes with reported genes/variants and considering additional factors such as variable expressivity, disease pleiotropy, and incomplete penetrance. These considerations should be aligned with specific gene-disease characteristics and segregation results based on an extended pedigree. In conclusion, this review aims to enhance understanding of the complexities of clinical genetic testing, advocating for a multidisciplinary approach to ensure accurate diagnosis and effective management of rare genetic diseases.

Genetic Parameter Estimates of Carcass Traits under National Scale Breeding Scheme for Beef Cattle

  • Do, ChangHee;Park, ByungHo;Kim, SiDong;Choi, TaeJung;Yang, BohSuk;Park, SuBong;Song, HyungJun
    • Asian-Australasian Journal of Animal Sciences
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    • v.29 no.8
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    • pp.1083-1094
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    • 2016
  • Carcass and price traits of 72,969 Hanwoo cows, bulls and steers aged 16 to 80 months at slaughter collected from 2002 to 2013 at 75 beef packing plants in Korea were analyzed to determine heritability, correlation and breeding value using the Multi-Trait restricted maximum likelihood (REML) animal model procedure. The traits included carcass measurements, scores and grades at 24 h postmortem and bid prices at auction. Relatively high heritability was found for maturity ($0.41{\pm}0.031$), while moderate heritability estimates were obtained for backfat thickness ($0.20{\pm}0.018$), longissimus muscle (LM) area ($0.23{\pm}0.020$), carcass weight ($0.28{\pm}0.019$), yield index ($0.20{\pm}0.018$), yield grade ($0.16{\pm}0.017$), marbling ($0.28{\pm}0.021$), texture ($0.14{\pm}0.016$), quality grade ($0.26{\pm}0.016$) and price/kg ($0.24{\pm}0.025$). Relatively low heritability estimates were observed for meat color ($0.06{\pm}0.013$) and fat color ($0.06{\pm}0.012$). Heritability estimates for most traits were lower than those in the literature. Genetic correlations of carcass measurements with characteristic scores or quality grade of carcass ranged from -0.27 to +0.21. Genetic correlations of yield grade with backfat thickness, LM area and carcass weight were 0.91, -0.43, and -0.09, respectively. Genetic correlations of quality grade with scores of marbling, meat color, fat color and texture were -0.99, 0.48, 0.47, and 0.98, respectively. Genetic correlations of price/kg with LM area, carcass weight, marbling, meat color, texture and maturity were 0.57, 0.64, 0.76, -0.41, -0.79, and -0.42, respectively. Genetic correlations of carcass price with LM area, carcass weight, marbling and texture were 0.61, 0.57, 0.64, and -0.73, respectively, with standard errors ranging from ${\pm}0.047$ to ${\pm}0.058$. The mean carcass weight breeding values increased by more than 8 kg, whereas the mean marbling scores decreased by approximately 0.2 from 2000 through 2009. Overall, the results suggest that genetic improvement of productivity and carcass quality could be obtained under the national scale breeding scheme of Korea for Hanwoo and that continuous efforts to improve the breeding scheme should be made to increase genetic progress.

Recent Progress of Genome Study for Anaplastic Thyroid Cancer

  • Lee, Jieun;Hwang, Jung-Ah;Lee, Eun Kyung
    • Genomics & Informatics
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    • v.11 no.2
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    • pp.68-75
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    • 2013
  • Anaplastic thyroid cancer (ATC) belongs to the most malignant and rapidly progressive human thyroid cancers and its prognosis is very poor. Also, it shows high resistance to cancer treatments, so that effective treatment for ATC has not been found to date, and virtually all patients terminate their life rapidly after diagnosis. Although targeted treatment of genetic alterations has emerged as an extremely promising approach to human cancers, such as BRAF in metastatic melanoma, it remains unclear that how commonly genomic alterations are influenced in ATC tumorigenesis. In recent years, genome wide approaches have been exploited to find genetic alterations associated with complex diseases, including cancer. Here, we reviewed the comprehensive genetic alterations in ATC and recent approaches in the context of identifying genomic alterations associated with ATC. Since surprisingly few reports have been published on the genome wide study of ATC, this review puts emphasis on the urgent needs of genomic research for the prevention and treatment of ATC.