• 제목/요약/키워드: Genetic screening

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Molecular Screening of Blast Resistance Genes in Rice using SSR Markers

  • Singh, A.K.;Singh, P.K.;Arya, Madhuri;Singh, N.K.;Singh, U.S.
    • The Plant Pathology Journal
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    • 제31권1호
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    • pp.12-24
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    • 2015
  • Rice Blast is the most devastating disease causing major yield losses in every year worldwide. It had been proved that using resistant rice varieties would be the most effective way to control this disease. Molecular screening and genetic diversities of major rice blast resistance genes were determined in 192 rice germplasm accessions using simple sequence repeat (SSR) markers. The genetic frequencies of the 10 major rice blast resistance genes varied from 19.79% to 54.69%. Seven accessions IC337593, IC346002, IC346004, IC346813, IC356117, IC356422 and IC383441 had maximum eight blast resistance gene, while FR13B, Hourakani, Kala Rata 1-24, Lemont, Brown Gora, IR87756-20-2-2-3, IC282418, IC356419, PKSLGR-1 and PKSLGR-39 had seven blast resistance genes. Twenty accessions possessed six genes, 36 accessions had five genes, 41 accessions had four genes, 38 accessions had three genes, 26 accessions had two genes, 13 accessions had single R gene and only one accession IC438644 does not possess any one blast resistant gene. Out of 192 accessions only 17 accessions harboured 7 to 8 blast resistance genes.

Preferred strategy for euploid single embryo transfer in advanced maternal age: Fresh versus frozen

  • Fatma Ozdemir;Gokalp Oner;Semra Kahraman;Yucel Sahin;Hakan Yelke
    • Clinical and Experimental Reproductive Medicine
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    • 제51권1호
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    • pp.85-90
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    • 2024
  • Objective: The purpose of this study was to compare fresh and frozen-thawed euploid blastocyst transfer protocols following preimplantation genetic screening (PGS) in cases of advanced maternal age. Methods: A total of 330 patients were examined retrospectively. PGS was performed on the embryos of 146 patients for whom fresh transfers were chosen. In contrast, frozen-thawed euploid single embryo transfer (ET) was selected after PGS for 184 patients, and their embryos were vitrified. The percentage of euploid embryos and rates of implantation, pregnancy, and pregnancy continuity, as well as clinical and biochemical abortion rates, were compared. Results: The numbers of retrieved oocytes, metaphase II oocytes, and fertilized ova were greater in the frozen-thawed group. The percentages of euploid embryos were comparable between the fresh and frozen-thawed groups (32% vs. 34.8%, respectively). The rates of implantation (46.6%vs. 62.5%), pregnancy (50% vs. 66.8%), ongoing pregnancy (38.4% vs. 53.8%), and live birth percentage (37.0% vs. 53.8%) were significantly higher in the frozen-thawed group. However, no significant differences were found in the clinical and biochemical abortion rates. Conclusion: The use of frozen-thawed single euploid ET is associated with increased implantation and pregnancy rates compared to fresh single euploid ET with PGS.

Genetics of hereditary nephrotic syndrome: a clinical review

  • Ha, Tae-Sun
    • Clinical and Experimental Pediatrics
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    • 제60권3호
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    • pp.55-63
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    • 2017
  • Advances in podocytology and genetic techniques have expanded our understanding of the pathogenesis of hereditary steroid-resistant nephrotic syndrome (SRNS). In the past 20 years, over 45 genetic mutations have been identified in patients with hereditary SRNS. Genetic mutations on structural and functional molecules in podocytes can lead to serious injury in the podocytes themselves and in adjacent structures, causing sclerotic lesions such as focal segmental glomerulosclerosis or diffuse mesangial sclerosis. This paper provides an update on the current knowledge of podocyte genes involved in the development of hereditary nephrotic syndrome and, thereby, reviews genotype-phenotype correlations to propose an approach for appropriate mutational screening based on clinical aspects.

항치매성 아세틸콜린에스터라제(Acetylcholinesterase) 저해 물질 함유 과일의 선발 및 저해 물질의 추출 최적 조건 (Screening of a Potent Antidementia Acetylcholinesterase Inhibitor-containing Fruits and Optimal Extraction Conditions)

  • 이은나;송정화;이종수
    • 한국식품영양학회지
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    • 제23권3호
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    • pp.318-323
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    • 2010
  • 아세틸콜린에스터라아제(AChE) 저해제에 의한 아세틸콜린 분해 억제는 알츠하이머 질병의 가장 확실한 치료 방법 중의 하나로 알려져 있다. 본 연구는 최근 웰빙 건강 소재로 각광을 받고 있는 과일과 채소로부터 새로운 AChE 저해제를 개발하여 항치매 식품이나 대체 의약품 생산에 응용하기 위해 과일과 채소로부터 AChE 저해 활성이 우수한 시료를 선별하고, AChE 저해 물질의 추출조건을 최적화하였다. AChE 저해 활성은 호두의 메탄올 추출물에서 72.6% ($IC_{50}=14.2\;{\mu}g$)로 가장 높았고, 호두의 AChE 저해 물질은 80% 메탄올로 $40^{\circ}C$에서 12시간 동안 처리하였을 때 가장 많이 추출되었다.

Genotoxicity of the Herbicide 2,4-Dichlorophenoxyacetic acid (2,4-D): Higher Plants as Monitoring Systems

  • Enan, Mohamed R.
    • Journal of Forest and Environmental Science
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    • 제25권3호
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    • pp.147-155
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    • 2009
  • Higher plants provide valuable genetic assay systems for screening and monitoring environmental pollutants. They are now recognized as excellent indicators of mutagenic effects of environmental chemicals and are applicable for the detection of environmental mutagens both indoor and outdoor. 2,4-dichlorophenoxyacetic acid (2,4-D) is a herbicide commonly used in agriculture. The residues of 2,4-D are present in air, water, soil and edible plants. It constitutes a real hazard to the public health because it's wide spread use in agriculture. Genotoxic effects of 2,4-D on plant cells and potential of higher plants as a biomonitoring system for detecting chemical mutagens are evaluated. It is recommended that higher plant systems have been accepted by regulatory authorities as an alternative biomonitoring system for the detection of possible genetic damage resulting from pollution and the use of environmental chemicals.

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지질분해효소 저해물질 함유 약용식물의 선발 및 저해물질 추출조건 (Screening of Medicinal Plants containing Lipase Inhibitor and Optimal Extraction Conditions)

  • 이종국;강민구;김영헌;이종수
    • 한국약용작물학회지
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    • 제20권1호
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    • pp.1-7
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    • 2012
  • This study was performed to develop new anti-obesity agents for functional foods from medicinal plants and herbs. Methanol extracts from 560 kinds of medicinal plants and herbs, and their lipase inhibitory activities were investigated. Methanol extract from Desmodium oxyphyllum Dc showed the highest lipase inhibitory activity at 74.2%. This lipase inhibitory activity was maximally extracted when powder of Desmodium oxyphyllum Dc was treated with 80% methanol (1 : 20) for 48 h.

Screening and Optimal Extraction of a New Antidementia β-Secretase Inhibitor-Containing Mushroom

  • Seo, Dong-Soo;Lee, Eun-Na;Seo, Geon-Sik;Lee, Jong-Soo
    • Mycobiology
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    • 제36권3호
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    • pp.195-197
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    • 2008
  • To produce a potent antidementia $\beta$-secretase inhibitor from a mushroom, the $\beta$-secretase inhibitory activities of various mushroom extracts were determined. Methanol extracts of Lentinula edodes exhibited the highest inhibitory activity (40.1%). The inhibitor was maximally extracted when a fruiting body of L. edodes was treated with 50% methanol at 40$^{\circ}C$ for 24 h.

유전체 연관 연구에서의 검정력 및 연구대상수 계산 고찰 (A Review of Power and Sample Size Estimation in Genomewide Association Studies)

  • 박애경;김호
    • Journal of Preventive Medicine and Public Health
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    • 제40권2호
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    • pp.114-121
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    • 2007
  • Power and sample size estimation is one of the crucially important steps in planning a genetic association study to achieve the ultimate goal, identifying candidate genes for disease susceptibility, by designing the study in such a way as to maximize the success possibility and minimize the cost. Here we review the optimal two-stage genotyping designs for genomewide association studies recently investigated by Wang et al(2006). We review two mathematical frameworks most commonly used to compute power in genetic association studies prior to the main study: Monte-Carlo and non-central chi-square estimates. Statistical powers are computed by these two approaches for case-control genotypic tests under one-stage direct association study design. Then we discuss how the linkage-disequilibrium strength affects power and sample size, and how to use empirically-derived distributions of important parameters for power calculations. We provide useful information on publicly available softwares developed to compute power and sample size for various study designs.

Exonic copy number variations in rare genetic disorders

  • Man Jin Kim
    • Journal of Genetic Medicine
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    • 제20권2호
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    • pp.46-51
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    • 2023
  • Exonic copy number variation (CNV), involving deletions and duplications at the gene's exon level, presents challenges in detection due to their variable impact on gene function. The study delves into the complexities of identifying large CNVs and investigates less familiar but recurrent exonic CNVs, notably enriched in East Asian populations. Examining specific cases like DRC1, STX16, LAMA2, and CFTR highlights the clinical implications and prevalence of exonic CNVs in diverse populations. The review addresses diagnostic challenges, particularly for single exon alterations, advocating for a strategic, multi-method approach. Diagnostic methods, including multiplex ligation-dependent probe amplification, droplet digital PCR, and CNV screening using next-generation sequencing data, are discussed, with whole genome sequencing emerging as a powerful tool. The study underscores the crucial role of ethnic considerations in understanding specific CNV prevalence and ongoing efforts to unravel subtle variations. The ultimate goal is to advance rare disease diagnosis and treatment through ethnically-specific therapeutic interventions.

방사선(放射線)이 생쥐생식세포(生殖細胞)에 미치는 영향(影響)에 관(關)한 연구(硏究) (Studies of the Radiation Effects on Mouse Germ Cell)

  • 정규회;천기정;정해원;유병선;이정호
    • Journal of Radiation Protection and Research
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    • 제10권1호
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    • pp.29-40
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    • 1985
  • The objectives of present study is to investigate genetic damage of radiation in mammalian male germ cell and. to establish available screening method for determining genetic hazard by radiation. Several methods were employed to measure the genetic damage of radiation as follows: Sperm head counts, frequency occurrence of sperm with abnormal head shape, fertility, activity of LDH-X, and the induction of unscheduled DNA synthesis (U.D.S.) in male mouse were performed with the passing of time after irradiation by making use of the sequence of event that occurs during spermatogenesis. Sperm head counts and activity of LDH-X in testes were gradually reduced by increased radiation dose and with the passing of the time after irradiation. Frequency occurrence of sperm with abnormal head shape, sterile period, and the induction of unscheduled DNA synthesis were increased by increased radiation dose. It is suggested that since germ cell is a direct reflection of genetic complement, the use of male germ cell is rapid and convenient method for measuring genetic damage by radiation.

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