Identification of tissue-specific somatic mosaicism in cleft lip and palate using whole exome sequencing

2019 Fiscal Year Final Research Report

• Project/Area Number: 17K11863
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Surgical dentistry
• Research Institution: Aichi Gakuin University
• Principal Investigator: SUZUKI Satoshi 愛知学院大学, 歯学部, 非常勤講師 (30468996)
• Project Period (FY): 2017-04-01 – 2020-03-31
• Keywords: エクソーム / 口唇口蓋裂 / モザイク

Outline of Final Research Achievements

Exome analysis was performed using leucocyte-derived DNA from 20 patients with cleft lip and palate stored in our institutional gene banking. We also performed exome sequence on the both lip skin tissue obtained by surgery. The reading depth of the analysis was set to 150-200 depth, and the sequence used the pairwise method. The analysis accuracy was more than 98% and the results were reliable. The average SNPs were found in the analysis was 434928.05 from leukocytes and 438651.55 from tissues. Therefore, 3723.5 somatic mosaic mutations were confirmed per sample in the lip soft tissue.

Free Research Field

口唇口蓋裂、遺伝学

Academic Significance and Societal Importance of the Research Achievements

この発見は多因子遺伝子疾患におけるmissing heritability解明の突破口になる可能性を秘めている。病変組織における約3700箇所あまりの変異が意味するところは研究試料の種類に関しても十分な考慮が必要であることを示唆している。