Establishment of a simple but accurate method for genetic diagnosis of Usher syndrome and other hearing disorders by using cDNA synthesized from hair roots

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We used hair roots as a source of mRNA of Usher syndrome(USH)-causing genes, and successfully detected expression of mRNA of 7 genes by using RT-PCR analysis. This result indicates that cDNA synthesized from hair roots is a possible tool for the mutation analysis of USH-causing genes. We performed mutation analysis by using the method, and revealed probable pathogenic mutations in 4 of 5 USH type 1 and in 7 of 9 USH type 2 patients. The result that most of the mutations identified are novel suggests that the mutation spectrum of Japanese patients is different from that of Caucasian patients.