2019 Fiscal Year Final Research Report
Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients
Project/Area Number |
17K16900
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Research Category |
Grant-in-Aid for Young Scientists (B)
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Allocation Type | Multi-year Fund |
Research Field |
Otorhinolaryngology
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Research Institution | Shinshu University |
Principal Investigator |
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Project Period (FY) |
2017-04-01 – 2020-03-31
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Keywords | 遺伝子 / 難聴 / 常染色体優性遺伝 / 次世代シークエンサー |
Outline of Final Research Achievements |
In general, autosomal dominant inherited hearing loss does not have a founder mutation, with the causative mutation different in each family. For this reason, there has been a strong need for efficient diagnosis methods for autosomal dominant sensorineural hearing loss (ADSNHL) patients. This study sought to verify the effectiveness of our analysis algorithm for the screening of ADSNHL patients as well as the usefulness of the massively parallel DNA sequencing (MPS). In this study, we analyzed seventy-five Japanese ADSNHL patients from 53 ENT departments nationwide participated in this study. We conducted genetic analysis of 75 ADSNHL patients using the Invader assay, TaqMan genotyping assay and MPS-based genetic screening. A total of 46 (61.3%) ADSNHL patients were found to have at least one candidate gene variant.
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Free Research Field |
耳鼻咽喉科学
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Academic Significance and Societal Importance of the Research Achievements |
本研究により日本人難聴患者の原因遺伝子変異の種類や頻度を明らかにするとともに、どのような難聴を呈するかといった臨床的特徴を明らかにすることができた。特に、原因遺伝子の種類により聴力像が異なるという情報は、補聴器や人工内耳といった難聴に対する治療法を決める上で有用な情報として活用されることが期待される。
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