PMID: 8983415Jan 1, 1996Paper

Problems of molecular genetics of inherited diseases

Vestnik Rossiĭskoĭ akademii meditsinskikh nauk
V S Gaitskhoki

Abstract

The paper reviews the basic achievements in the study of human inherited diseases by applying the guidelines and technology of reversed genetics, outlines the results of genome mapping, positional cloning of disease loci, identification of gene mutations and DNA diagnosis of inherited diseases. It also discusses the problems of molecular heterogeneity of inherited diseases and of the relationships between the genotype and the biochemical and clinical phenotypes of diseases, gives the data on identification of genetic risk factors and polymorphic linked markers for some common diseases, and characterizes the lines in the development of approaches to gene therapy for inherited diseases.

Related Concepts

Related Feeds

CREs: Gene & Cell Therapy

Gene and cell therapy advances have shown promising outcomes for several diseases. The role of cis-regulatory elements (CREs) is crucial in the design of gene therapy vectors. Here is the latest research on CREs in gene and cell therapy.

© 2022 Meta ULC. All rights reserved