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[基因组与分子医学]

[Genomic and molecular medicine].

作者信息

Baranov V S

机构信息

Ott Institute of Obstetrics and Gynecology, Russian Academy of Medical Sciences, St. Petersburg, 199034 Russia.

出版信息

Mol Biol (Mosk). 2004 Jan-Feb;38(1):110-6. doi: 10.1023/b:mbil.0000015146.27286.ec.

Abstract

Molecular medicine is a new research field underlain by achievements of the Human Genome Project. The review considers the contribution of the Laboratory of Prenatal Diagnostics of the Ott Institute of Obstetrics and Gynecology to the development of molecular medicine in Russia. Special emphasis is placed on molecular diagnostics, predictive medicine, and gene therapy. The lab obtained priority results in devising and promoting methods of molecular diagnostics of the most common severe hereditary disorders such as cystic fibrosis, Duchenne muscular dystrophy, hemophilia A, and fragile X syndrome. Owing to the Russian program Human Genome, St. Petersburg researchers laid the foundations for theoretical and applied predictive medicine, which is aimed at identifying and analyzing the genes associated with predisposition to high-incidence multifactorial disorders. Experiments with mdx mice providing a model of Duchenne muscular dystrophy were carried out to select the optimal way of delivering a transgene (cDNA of the dystrophin gene) contained in various constructs for the purpose of gene therapy.

摘要

分子医学是一个基于人类基因组计划成果的新研究领域。本文综述了奥托妇产研究所产前诊断实验室对俄罗斯分子医学发展的贡献。特别强调了分子诊断、预测医学和基因治疗。该实验室在设计和推广最常见严重遗传性疾病(如囊性纤维化、杜氏肌营养不良症、甲型血友病和脆性X综合征)的分子诊断方法方面取得了优先成果。由于俄罗斯的“人类基因组”计划,圣彼得堡的研究人员奠定了理论和应用预测医学的基础,该医学旨在识别和分析与高发多因素疾病易感性相关的基因。为了选择用于基因治疗的各种构建体中所含转基因(抗肌萎缩蛋白基因的cDNA)的最佳递送方式,对提供杜氏肌营养不良症模型的mdx小鼠进行了实验。

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