CLONING, EXPRESSION AND IDENTIFICATION OF SPG GENE RESPONSIBLE FOR MOST FREQUENT FORM OF AUTOSOMAL DOMINANT HEREDITARY SPASTIC PARAPLEGIA

摘要

PROBLEM TO BE SOLVED: To provide a method of identification and characterization of the SPG gene coding for spastin and some mutations thereof responsible for the most frequent form of autosomal dominant familial spastic paraplegia.

SOLUTION: There are provided cloning and characterization of cDNA of the gene and corresponding polypeptides, and preparation of vectors, transformed cells and transgenic animals. In addition, methods and kits, and methods for selecting chemical or biological compounds directly or indirectly interactive with the polypeptides are provided.

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