2011 Fiscal Year Final Research Report
Establishment of a simple but accurate method for genetic diagnosis of Usher syndrome and other hearing disorders by using cDNA synthesized from hair roots
| Project/Area Number |
22791589
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Otorhinolaryngology
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| Research Institution | Hamamatsu University School of Medicine |
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Principal Investigator |
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| Project Period (FY) |
2010 – 2011
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| Keywords | 遺伝子 / 網膜色素変性症 / 感音難聴 / アッシャー症候群 / 毛根 |
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| Research Abstract |
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.
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[Journal Article] Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population2012
Author(s)
Hosono K, Ishigami C, Takahashi M, Park DH, Hirami Y, Nakanishi H, Ueno S, Yokoi T, Hikoya A, Fujita T, Zhao Y, Nishina S, Shin JP, Kim IT, Yamamoto S, Azuma N, Terasaki H, Sate M, Kondo M, Minoshima S, Hotta Y.
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Journal Title
PLoS One
Volume: 7
Pages: e31036
Peer Reviewed
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[Presentation] Mutation analysis of the MY07A and CDH23 genes in Japanese patients with Usher syndrome type 12011
Author(s)
Nakanishi H, Ohtsubo M, Iwasaki S, Hotta Y, Takizawa Y, Hosono K, Mizuta K, Mineta H, Minoshima S.
Organizer
Thirty-fourth annual mid-winter research meeting of the association for research of otolaryngology
Place of Presentation
Baltimore, ME, USA
Year and Date
20110219-23
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