非症候群性遺伝性難聴に報告された, 前庭症状と原因遺伝子のデータベース・文献的検討

「緒言」近年数多く報告されている遺伝性難聴家系のなかには, 前庭症状をきたす家系もある. これらの家系において, 前庭症状の原因と考えられる遺伝子が同定されれば, 次にはその遺伝子・蛋白質の機能を研究することが可能になる. そしてこれらの試みはめまいの病態を分子レベルで解明し, 予防・治療法を検討することにつながりうる. 遺伝性難聴については近年, 次世代シークエンサーにより, 臨床検体DNAからヒトの全遺伝子配列を解析することが可能となった. 我が国では2008年から先天性難聴の遺伝子診断が保険収載されており, 現在では19遺伝子の154変異を日常臨床の場で検討することが可能となっている....

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Published inEquilibrium Research Vol. 80; no. 2; pp. 63 - 74
Main Authors 池園, 哲郎, 前田, 幸英
Format Journal Article
LanguageJapanese
Published 一般社団法人 日本めまい平衡医学会 30.04.2021
日本めまい平衡医学会
Online AccessGet full text
ISSN0385-5716
1882-577X
DOI10.3757/jser.80.63

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Abstract 「緒言」近年数多く報告されている遺伝性難聴家系のなかには, 前庭症状をきたす家系もある. これらの家系において, 前庭症状の原因と考えられる遺伝子が同定されれば, 次にはその遺伝子・蛋白質の機能を研究することが可能になる. そしてこれらの試みはめまいの病態を分子レベルで解明し, 予防・治療法を検討することにつながりうる. 遺伝性難聴については近年, 次世代シークエンサーにより, 臨床検体DNAからヒトの全遺伝子配列を解析することが可能となった. 我が国では2008年から先天性難聴の遺伝子診断が保険収載されており, 現在では19遺伝子の154変異を日常臨床の場で検討することが可能となっている. この間2010年には次世代シークエンサーによる難聴の遺伝子診断が初めて報告された. この技術開発により, 2010年以後には遺伝性難聴家系で, まれな遺伝子変異が多数同定されるようになった. 非症候群性遺伝性難聴とは, 難聴(およびめまい)のみの臨床症状を呈する遺伝性難聴である.
AbstractList 「緒言」近年数多く報告されている遺伝性難聴家系のなかには, 前庭症状をきたす家系もある. これらの家系において, 前庭症状の原因と考えられる遺伝子が同定されれば, 次にはその遺伝子・蛋白質の機能を研究することが可能になる. そしてこれらの試みはめまいの病態を分子レベルで解明し, 予防・治療法を検討することにつながりうる. 遺伝性難聴については近年, 次世代シークエンサーにより, 臨床検体DNAからヒトの全遺伝子配列を解析することが可能となった. 我が国では2008年から先天性難聴の遺伝子診断が保険収載されており, 現在では19遺伝子の154変異を日常臨床の場で検討することが可能となっている. この間2010年には次世代シークエンサーによる難聴の遺伝子診断が初めて報告された. この技術開発により, 2010年以後には遺伝性難聴家系で, まれな遺伝子変異が多数同定されるようになった. 非症候群性遺伝性難聴とは, 難聴(およびめまい)のみの臨床症状を呈する遺伝性難聴である.
Author 池園, 哲郎
前田, 幸英
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岡山大学大学院医歯薬学総合研究科耳鼻咽喉・頭頸部外科学
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Snippet 「緒言」近年数多く報告されている遺伝性難聴家系のなかには, 前庭症状をきたす家系もある. これらの家系において, 前庭症状の原因と考えられる遺伝子が同定されれば, 次にはその遺伝子・蛋白質の機能を研究することが可能になる. そしてこれらの試みはめまいの病態を分子レベルで解明し,...
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StartPage 63
Title 非症候群性遺伝性難聴に報告された, 前庭症状と原因遺伝子のデータベース・文献的検討
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