• 제목/요약/키워드: monogenic

검색결과 60건 처리시간 0.022초

Recent Advances in Sheep Genome Mapping

  • Crawford, A.M.
    • Asian-Australasian Journal of Animal Sciences
    • /
    • 제12권7호
    • /
    • pp.1129-1134
    • /
    • 1999
  • The rapid development of the sheep genetic linkage map over the last five years has given us the ability to follow the inheritance of chromosomal regions. Initially this powerful resource was used to find markers linked to monogenic traits but there is now increasing interest in using the genetic linkage map to define the complex of genes that control multigenic production traits. Of particular interest are those production traits that are difficult to measure and select for using classical quantitative genetic approaches. These include resistance to disease where a disease challenge (necessary for selection) poses too much risk to valuable stud animals and meat and carcass qualities which can be measured only after the animal has been slaughtered. The goal for the new millennium will be to fully characterise the genetic basis of multigenic production traits. The genetic linkage map is a vital tool required to achieve this.

아데노바이러스 유전자치료제의 독성 (Toxicity of the Adenoviral Vector Mediated Gene Therapy)

  • 정인재
    • Environmental Analysis Health and Toxicology
    • /
    • 제24권1호
    • /
    • pp.71-77
    • /
    • 2009
  • Adenoviral vector(AdV) has been the most widely used viral vector for delivering an exogenous therapeutic gene to human. As of this date, more clinical trials utilize recombinant AdV to treat cancer and monogenic inherited disease as well as vaccine applications. However, the number of clinical trials had dropped markedly following the tragic death of a patient ongoing an AdV therapy for the treatment of an ornithine transcarbamylase deficiency(OTCD). This review is an attempt to provide the information on toxicity generated by AdVmediated gene transfer. It would serve as a sobering reality to researchers and clinicians exploring the use of AdV, as to the complications involved in human application.

Current Status of the Clinical Development of Gene Therapy

  • Kwon, Sun-Il
    • 대한의생명과학회지
    • /
    • 제24권3호
    • /
    • pp.157-167
    • /
    • 2018
  • The concept of gene therapy is to treat a disease by transferring therapeutic nucleic acids to a patient's cells. It took several decades from the basic theoretical proposal of gene therapy to the current promising treatment option for some important human diseases. The encountered adverse effects in the early clinical studies boosted the development of sophisticated vectors and elaborate clinical designs. The gene therapy is now considered to have the potential to cure many diseases that are incurable with conventional medications. By the end of 2017, about 2,600 clinical trials of gene therapy have been performed or are ongoing for a variety of diseases such as cancers, monogenic diseases, cardiovascular diseases and neurological diseases etc. Here, we present a brief introduction of technical achievement in relation to gene therapy development, and a review of the current status of global gene therapy clinical development.

Maturity-onset Diabetes of the Young: Update on Diagnosis and Treatment

  • Jang, Kyung Mi
    • Journal of Interdisciplinary Genomics
    • /
    • 제3권1호
    • /
    • pp.1-6
    • /
    • 2021
  • Maturity-onset diabetes of the young (MODY) is characterized by a heterogeneous group of monogenic diabetes. MODY has autosomal dominant inheritance, a primary defect in pancreatic β-cell, and an early onset. Discriminating MODY from type 1 or type 2 diabetes is often challenging at first. To date, 14 different disease causing mutations have been identified in MODY patients worldwide. Targeted DNA sequencing is the gold standard to diagnose MODY and their asymptomatic relatives. Next-generation sequencing may help successfully to diagnose MODY patients and identify new MODY genes. In this review, the current perspectives on diagnosis and treatment of MODY and discrepancy in the disease-causing mutations between the Asian and Caucasian patients with MODY are summarized.

Clinical Aspects and Treatments for Pediatric Inflammatory Bowel Diseases

  • Moon, Jin Soo
    • Pediatric Gastroenterology, Hepatology & Nutrition
    • /
    • 제22권1호
    • /
    • pp.50-56
    • /
    • 2019
  • The incidence of pediatric inflammatory bowel disease (IBD) is increasing worldwide, especially in the developing countries. It differs from adult disease in clinical manifestations, especially with regard to genetic predisposition in monogenic IBD. Pediatric disease also have a tendency to show more aggressive inflammation and greater extent of lesion. Newer drugs such as anti-tumor necrosis factor ${\alpha}$ have been known to make a difference in treating pediatric IBD. Recent studies suggested that the patients with high risk factors might have some benefits from earlier use of biologics. To achieve treatment goals such as relieving symptoms, optimizing growth, and improving quality of life while minimizing drug toxicity, more research is needed to develop tools for risk stratification in the use of biologics for pediatric IBD.

A rare, likely pathogenic GCK variant related to maturity-onset diabetes of the young type 2: A case report

  • So, Min-Kyung;Huh, Jungwon;Kim, Hae Soon
    • Journal of Genetic Medicine
    • /
    • 제18권2호
    • /
    • pp.132-136
    • /
    • 2021
  • Maturity-onset diabetes of the young (MODY) is caused by autosomal dominant pathogenic variants in one of 14 currently known monogenic genes. Characteristics of patients with MODY include early-onset clinical disease with a family history of diabetes and negative autoantibodies and may present with heterogeneous phenotypes according to the different subtypes. Here, we report a patient with early-onset diabetes who presented asymptomatic mild fasting hyperglycemia with the absence of autoantibodies. She was diagnosed with glucokinase (GCK)-MODY caused by a GCK variant, c.1289T>C (p.L430P), identified by targeted gene-panel testing, and the affected father had the same variant. We interpreted this rare missense variant as a likely pathogenic variant and then she stopped taking oral medication. This case highlights the usefulness of gene-panel testing for accurate diagnosis and appropriate management of MODY. We also note the importance of familial genetic testing and genetic counseling for the proper interpretation of MODY variants.

SZEGÖ PROJECTIONS FOR HARDY SPACES IN QUATERNIONIC CLIFFORD ANALYSIS

  • He, Fuli;Huang, Song;Ku, Min
    • 대한수학회보
    • /
    • 제59권5호
    • /
    • pp.1215-1235
    • /
    • 2022
  • In this paper we study Szegö kernel projections for Hardy spaces in quaternionic Clifford analysis. At first we introduce the matrix Szegö projection operator for the Hardy space of quaternionic Hermitean monogenic functions by the characterization of the matrix Hilbert transform in the quaternionic Clifford analysis. Then we establish the Kerzman-Stein formula which closely connects the matrix Szegö projection operator with the Hardy projection operator onto the Hardy space, and we get the matrix Szegö projection operator in terms of the Hardy projection operator and its adjoint. At last, we construct the explicit matrix Szegö kernel function for the Hardy space on the sphere as an example, and get the solution to a Diriclet boundary value problem for matrix functions.

수도 품종간 교잡에 있어서의 초장의 유전 분리 1. Indica x Indica 조합 (The segregation mode of plant height in the crosses of rice varieties 1. Indica X Indica crosses)

  • 허문회;;장덕자
    • 한국작물학회지
    • /
    • 제5권1호
    • /
    • pp.37-43
    • /
    • 1969
  • IRRI 육종포장에 육성된 단간성 Indica품종에 T(N)1, $CP_231$231SLO17, 및 B569A12와 기타 몇가지 Indica품종이 교배된 $F_2$ 집단의 초장을 측정하여 $F_2$잡종들의 초장에 관한 분리를 조사하였는데 그 결과는 다음과 같이 요약된다. 1. 동남아의 장간 Indica품종들은 대만품종 T(N)1에 교배되어 3:1로 분리하는 것과 3:1로 분리되지 않는 것으로 구분된다. 2. U.S.A. 품종들은 특히 단간자료로 쓰이는 CP231-SO17과 B569A12는 T(N)1과의 조합에서 3:1로 분리하지 않는다. 3. T(N)1의 단간성 대응유전자를 가진 품종일지라도 조합 상대품종에 따라 우성 정도, 초월분리 정도가 다르다. 4. 간장에 관하여 보족적인 현상을 나타내는 경우가 있다. 즉 단간${\times}$단간에서 장간 분리개체가 많이 나왔다. B569A12${\times}$T(N)1은 그 예이다. 5. 복잡한 유전구성품종을 단순한 유전구성품종에 Backcross하여 단순한 유전분리현상을 관찰할 수 있었다. Peta/2${\times}$B569A12는 그 예이다.

  • PDF

Infrared Target Recognition using Heterogeneous Features with Multi-kernel Transfer Learning

  • Wang, Xin;Zhang, Xin;Ning, Chen
    • KSII Transactions on Internet and Information Systems (TIIS)
    • /
    • 제14권9호
    • /
    • pp.3762-3781
    • /
    • 2020
  • Infrared pedestrian target recognition is a vital problem of significant interest in computer vision. In this work, a novel infrared pedestrian target recognition method that uses heterogeneous features with multi-kernel transfer learning is proposed. Firstly, to exploit the characteristics of infrared pedestrian targets fully, a novel multi-scale monogenic filtering-based completed local binary pattern descriptor, referred to as MSMF-CLBP, is designed to extract the texture information, and then an improved histogram of oriented gradient-fisher vector descriptor, referred to as HOG-FV, is proposed to extract the shape information. Second, to enrich the semantic content of feature expression, these two heterogeneous features are integrated to get more complete representation for infrared pedestrian targets. Third, to overcome the defects, such as poor generalization, scarcity of tagged infrared samples, distributional and semantic deviations between the training and testing samples, of the state-of-the-art classifiers, an effective multi-kernel transfer learning classifier called MK-TrAdaBoost is designed. Experimental results show that the proposed method outperforms many state-of-the-art recognition approaches for infrared pedestrian targets.

Systematic Development of Tomato BioResources in Japan

  • Ariizumi, Tohru;Aoki, Koh;Ezura, Hiroshi
    • Interdisciplinary Bio Central
    • /
    • 제3권1호
    • /
    • pp.1.1-1.6
    • /
    • 2011
  • Recently, with the progress of genome sequencing, materials and information for research on tomato (Solanum lycopersicum) have been systematically organized. Tomato genomics tools including mutant collections, genome sequence information, full-length cDNA and metabolomic datasets have become available to the research community. In Japan, the National BioResource Project Tomato (NBRP Tomato) was launched in 2007, with aims to collect, propagate, maintain and distribute tomato bioresources to promote functional genomics studies in tomato. To this end, the dwarf variety Micro-Tom was chosen as a core genetic background, due to its many advantages as a model organism. In this project, a total of 12,000 mutagenized lines, consisting of 6000 EMS-mutagenized and 6000 gamma-ray irradiated M2 seeds, were produced, and the M3 offspring seeds derived from 2236 EMS-mutagenized M2 lines and 2700 gamma-ray irradiated M2 lines have been produced. Micro-Tom mutagenized lines in the M3 generation and monogenic Micro-Tom mutants are provided from NBRP tomato. Moreover, tomato cultivated varieties and its wild relatives, both of these are widely used for experimental study, are available. In addition to these bioresources, NBRP Tomato also provides 13,227 clones of full-length cDNA which represent individual transcripts non-redundantly. In this paper, we report the current status of NBRP Tomato and its future prospects.