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Rapid Genetic Diagnosis for Okinawan Patients with Enlarged Vestibular Aqueduct Using Single-Stranded Tag Hybridization Chromatographic Printed-Array Strip

Research Project

Project/Area Number 20K18316
Research Category

Grant-in-Aid for Early-Career Scientists

Allocation TypeMulti-year Fund
Review Section Basic Section 56050:Otorhinolaryngology-related
Research InstitutionUniversity of Miyazaki

Principal Investigator

Ganaha Akira  宮崎大学, 医学部, 准教授 (00347155)

Project Period (FY) 2020-04-01 – 2022-03-31
Project Status Completed (Fiscal Year 2021)
Budget Amount *help
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2021: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2020: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Keywords前庭水管拡大症 / 沖縄 / SLC26A4 / STH-PAS / ペンドレッド症候群 / 迅速診断 / 核酸クロマトグラフィー
Outline of Research at the Start

本研究は先天性難聴の原因の一つであるペンドレッド症候群の患者より採取した血液からDNAを取り出し、遺伝子変異の有無や変異のタイプが判別できるようにPCRという手段により対象遺伝子を増幅する。通常、PCRにより増幅した遺伝子はシークエンスという塩基配列を解読する作業により遺伝子変異を確認するが、本研究では対象の遺伝子変異を検出可能な核酸クロマトグラフィーストリップという専用の試験紙を設計し、PCR後の検体に浸すことでシークエンスを行わずに5-10分程度で変異の有無が診断できるようにする。また、血液から直接PCRを行い核酸クロマトグラフィーストリップを用いて遺伝子変異を診断できるキットを作成する。

Outline of Final Research Achievements

We developed a multiplex variant detection method by combining allele-specific PCR with STH-PAS to verify the presence or absence of the two SLC26A4 pathogenic variants, c.1707+5G>A and c.2168A>G, that are the most common among Okinawan patients with hearing loss and EVA. Furthermore, by combining direct PCR and STH-PAS from whole blood and saliva specimens, we developed a novel, rapid and less invasive genotyping method. The diagnostic accuracy of STH-PAS genotyping for the two pathogenic variants was 88% correct in Okinawan patients with EVA. The STH-PAS genotyping method appropriately tailored to the genetic variations in targeted ethnicities could be applied broadly in other geographical regions.

Academic Significance and Societal Importance of the Research Achievements

直接PCRとSTH-PASを用いた前庭水管拡大症の迅速遺伝子診断は,簡便でコンタミネーションのリスクが少なく,電気泳動が不要なため発癌性のある臭化エチジウムが不要なため安全で,かつ短時間で安価に実施可能である.本法による前庭水管拡大症の遺伝子診断は,医療における費用やリスクの軽減に寄与する.
また,本法は1本のSTH-PASで最大12 genotypingが可能であり,人種により異なるSLC26A4遺伝子変異の頻度を考慮して検査対象の遺伝子変異を選択することにより,沖縄以外の東アジア圏でも応用が可能である.

Report

(3 results)
  • 2021 Annual Research Report   Final Research Report ( PDF )
  • 2020 Research-status Report
  • Research Products

    (5 results)

All 2022 2021

All Journal Article (3 results) (of which Peer Reviewed: 3 results,  Open Access: 3 results) Presentation (2 results) (of which Int'l Joint Research: 1 results,  Invited: 1 results)

  • [Journal Article] Diagnosis for Okinawan Patients with Enlarged Vestibular Aqueduct Using Single- Stranded Tag Hybridization Chromatographic Printed-Array Strip.2022

    • Author(s)
      Ganaha A, Hishinuma E, Kaname T, Hiratsuka M, Kondo S, Tono T.
    • Journal Title

      Journal of Clinical Medicine

      Volume: 11 Issue: 4 Pages: 1099-1099

    • DOI

      10.3390/jcm11041099

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Is the Conductive Hearing Loss in <b><i>NOG</i></b>-Related Symphalangism Spectrum Disorder Congenital?2021

    • Author(s)
      Nakashima Takahiro、Ganaha Akira、Tsumagari Shougo、Nakamura Takeshi、Yamada Yuusuke、Nakamura Eriko、Usami Shin-ichi、Tono Tetsuya
    • Journal Title

      ORL

      Volume: 83 Issue: 3 Pages: 196-202

    • DOI

      10.1159/000512668

    • Related Report
      2020 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Combined Electric acoustic stimulation in a patient with otitis media with antineutrophil cytoplasmic antibody-associated vasculitis2021

    • Author(s)
      Nakamura Takeshi、Ganaha Akira、Tono Tetsuya、Yamada Yuusuke、Okuda Takumi、Shimoara Shoken、Matsuda Yusuke
    • Journal Title

      Auris Nasus Larynx

      Volume: - Issue: 6 Pages: 133-134

    • DOI

      10.1016/j.anl.2021.04.009

    • Related Report
      2020 Research-status Report
    • Peer Reviewed / Open Access
  • [Presentation] Diagnosis and treatment of enlarged vestibular aqueduct syndrome: clinical and genetic features of 34 Japanese patients2021

    • Author(s)
      Akira Ganaha
    • Organizer
      13th ASIA PACIFIC SYMPOSIUM ON COCHLEAR IMPLANTS AND RELATED SCIENCES
    • Related Report
      2021 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] 核酸クロマトグラフィーを用いた沖縄版ペンドレッド症候群迅速遺伝子診断法2021

    • Author(s)
      我那覇 章、山田 悠祐、近藤俊輔、比嘉輝之、鈴木幹男、東野哲也
    • Organizer
      第31回日本耳科学会総会・学術講演会
    • Related Report
      2021 Annual Research Report

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Published: 2020-04-28   Modified: 2023-01-30  

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