Establishment of whole exome sequencing for the diagnosis of atypical hemolytic uremic syndrome

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K09246
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Kidney internal medicine
• Research Institution: The University of Tokyo
• Principal Investigator: Kato Hideki 東京大学, 医学部附属病院, 講師 (90625237)
• Co-Investigator(Kenkyū-buntansha): 南学 正臣 東京大学, 医学部附属病院, 教授 (90311620) ; 和田 健彦 東海大学, 医学部, 准教授 (90447409) ; 吉田 瑶子 東京大学, 医学部附属病院, 特任研究員 (90649443)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: 血栓性微小血管障害症 / 非典型溶血性尿毒症症候群

Outline of Final Research Achievements

Atypical hemolytic uremic syndrome (aHUS) is a disease that develops by complement-related genetic or acquired factors. We collected 118 clinically-diagnosed aHUS patients by the end of 2016 and reported the clinical features of aHUS patients in Japan. Many candidate genes are reported in this disease, and novel genes are also being reported. In this study, we established an analysis method by using whole exome sequencing. We also established a method for analyzing the copy number of genes by the MLPA method and found a novel rearrangement in the CFH and CFHR gene regions.
Based on the results of this research, we established an exome analysis capable of detecting known gene variants, verifying new gene variants, and exploring for new gene mutations, and contributed greatly in this disease.

Free Research Field

腎臓内科