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Publication Detail
Molecular Genetic Diagnosis of Neurological Diseases
Abstract
This chapter discusses the molecular genetic diagnosis of neurological diseases. Recent progress in molecular genetics has greatly improved the understanding of the molecular basis of many inherited neurological diseases. With the Human Genome Project nearing completion, the genomic sequence of a large number of genes which, when mutated, can cause neurological disorders, is now known. This increasing wealth of knowledge has allowed the reclassification of a number of formerly heterogeneous clinical syndromes, opens up novel diagnostic possibilities, and allows characterization of the pathological gene products, thereby providing further insight into the molecular pathogenesis of these disorders. This will eventually lead toward new approaches to therapy and prevention. The chapter outlines the molecular genetic basis of inherited diseases, describes some fundamental methods of genetic analysis, and gives an overview of the present role of molecular diagnosis in neurological diseases. The human genome consists of 23 pairs of chromosomes. One of each pair is inherited from the mother, the other from the father. The backbone of the chromosome consists of a continuous DNA double-strand, approximately 50-200 million base pairs (bp) in length, depending on the size of the chromosome. © 2003 Elsevier Inc. All rights reserved.
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