Identification of causative genetic locus of a large family with hearing loss

2015 Fiscal Year Final Research Report

• Project/Area Number: 25462637
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Otorhinolaryngology
• Research Institution: Chiba University (2015); Kyoto University (2013)
• Principal Investigator: Sekine Akihiro 千葉大学, 予防医学センター, 教授 (30425631)
• Co-Investigator(Kenkyū-buntansha): OKANO Takayuki 京都大学, 医学部附属病院, 助教 (60642931)
• Co-Investigator(Renkei-kenkyūsha): KITAJIRI Shinichiro 京都大学, 医学部附属病院, 助教 (00532970) ; YAMAMOTO Norio 京都大学, 医学部附属病院, 助教 (70378644) ; TAKEMURA Ryo 千葉大学, 医学部附属病院, 特任助教 (50747516) ; KITAHARA Terue 千葉大学, 予防医学センター, 特任研究員 (70761162) ; MASHIMO Yoichi 千葉大学, 大学院医学研究院, 技術職員 (90422253)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Keywords: 遺伝性難聴 / パラメトリック連鎖解析 / 大家系 / 全ゲノム解析 / 原因未知

Outline of Final Research Achievements

To identify the causative genetic loci in a large family (affected:12, unaffected:24) with hereditary hearing loss, we performed a parametric linkage analysis using variations detected by whole genome sequencing (HiSeq) and genome wide association study (affected vs unaffected individuals) by human Omni2.5M+exon array. Highest LOD score (2.01~2.71) by parametric linkage mapping was observed a 79kb region in chr13p. Also, 79Mb (p value~1x10-6, odds ratio~14.4) in chr13p included the preceding 79kb was indicated the sole candidate region by genome wide association study. Therefore, sequencing of target 79kb region by PacBioRSII, and succeeded in narrowing the 4 loci included a causative locus exhibiting mutually high linkage disequilibrium.

Free Research Field

ゲノム研究