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Updated: Feb 1, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

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ゲノム全体のデノボリスクスコアは,自閉症スペクトル障害におけるプロモーターの変動を意味する

Joon-Yong An1, Kevin Lin2, Lingxue Zhu2

  • 1Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, CA, USA.

Science (New York, N.Y.)
|December 15, 2018
PubMed
まとめ

全ゲノム配列解析により,自閉症スペクトル障害 (ASD) のプロモーター領域,特に保存された転写因子結合部位のデノボ変異が,この疾患に寄与していることが明らかになった. これらの発見は,複雑な遺伝的条件におけるノンコーディング変異の役割を強調しています.

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