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2017 Fiscal Year Final Research Report

Genetics of familial aortic aneurysm and aortic dissection and regulatory mechanisms by long non-coding RNA

Research Project

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Project/Area Number 26460687
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Laboratory medicine
Research InstitutionKyorin University

Principal Investigator

Yoshino Hideaki  杏林大学, 医学部, 教授 (90129734)

Co-Investigator(Kenkyū-buntansha) 佐藤 徹  杏林大学, 医学部, 教授 (20170764)
蒲生 忍  杏林大学, その他部局等, 特任教授 (90122308)
Project Period (FY) 2014-04-01 – 2018-03-31
Keywords大動脈瘤 / 大動脈解離 / 長鎖非コーディングRNA
Outline of Final Research Achievements

Thoracic Aortic Aneurysm and Dissection (TAAD) is a disease in which blood flows into the aortic media and forms a pseudoaneurysm and the layer structure dissociates. It is required to perform the sequence analysis of the entire causative gene which has been difficult in the past and to investigate the correlation between sequence analysis of ANRIL reported to be involved in the onset and Epigenetic regulation in the onset of TAAD. In this study, we established a method to amplify the full length with Long PCR in the ACTA2 gene with the maximum length of 20 kb including the entire coding exon 8 region, in which the most frequent mutation observed in TAAD, and to define base sequence for each exon. This method can analyze with much smaller sample volume than the conventional exon-to-exon PCR-direct sequencing method, and is effective not only for aortic dissection but also for analysis of many hereditary diseases.

Free Research Field

循環器病学

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Published: 2019-03-29  

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