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

2021 Fiscal Year Final Research Report

• Project/Area Number: 20K18316
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 56050:Otorhinolaryngology-related
• Research Institution: University 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
• Keywords: 前庭水管拡大症 / 沖縄 / SLC26A4 / STH-PAS

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.

Free Research Field

難聴遺伝子

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．