IDENTIFICATION OF GENE ASSOCIATED WITH SPINOCEREBELLAR ATAXIA TYPE 5 AND METHOD OF USE

摘要

PROBLEM TO BE SOLVED: To provide a method for identifying a subject at risk for developing spinocerebellar ataxia type 5.SOLUTION: The method includes analyzing an SCA5 polynucleotide by hybridization, amplification using a specific primer and a method for determining a partial sequence of a polynucleotide, and determining whether the SCA5 polynucleotide includes a mutation in an exon 7, an exon 14 or both thereof in a nucleic acid sample derived from a human.