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Effective technique establishment to distinguish polymorphisms or mutations for variants in an unifactorial diseases.

Research Project

Project/Area Number 16K08978
Research Category

Grant-in-Aid for Scientific Research (C)

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

Principal Investigator

NAKAYAMA Tomohiro  日本大学, 医学部, 教授 (00339334)

Co-Investigator(Kenkyū-buntansha) 羽田 明  千葉大学, 大学院医学研究院, 教授 (00244541)
Project Period (FY) 2016-04-01 – 2019-03-31
Project Status Completed (Fiscal Year 2018)
Budget Amount *help
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2018: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2017: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2016: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Keywordsキーワード / 単一遺伝子疾患 / バリアント / 多型 / 変異 / ハプロタイプ
Outline of Final Research Achievements

We collected the peripheral blood samples from patients for Gitelman syndrome, and stocked them in the deep freezer of -80℃ from -70℃. DNAs were extracted from these samples, and were measured the concentration for adjusting them to constant concentration for analyses. Nucleic acid sequencing was performed by the direct sequencing so-called Sanger method.
Newly software was prepared for constructing the haplotype. For estimating each variant firstly data of ClinVar were referred, and tried for adding to certainty by software Mutation Taster, PROVEAN, SIFT, ALIGN GVGD, ALIGN GVGD, web site including PANTHER.

Academic Significance and Societal Importance of the Research Achievements

常染色体劣性遺伝形式であるGitelman症候群は計34例を収集することができた。ダイレクトシークエンシング法あるいはMLPA法によって多くのサンプルにおいて複合ヘテロ接合体・ホモ接合体の原因バリアントを検出した。これらが病態に関連しているか否かについてはClinVarの記載を最初に参照し、Mutation Taster、PROVEAN、SIFT、ALIGN GVGD、ALIGN GVGD、PANTHERなどwebサイト上で解析できるsoftwareによって確実性を増すことに努めた。
本研究成果によって、病態に確実に影響を与えるようなバリアント(いわゆる変異)を予測することになり紹介貢献できる。

Report

(4 results)
  • 2018 Annual Research Report   Final Research Report ( PDF )
  • 2017 Research-status Report
  • 2016 Research-status Report

URL: 

Published: 2016-04-21   Modified: 2020-03-30  

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