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Updated: May 23, 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

全エクソーム配列解析によって明らかになったデノボ変異は,自閉症と強く関連しています

Stephan J Sanders1, Michael T Murtha, Abha R Gupta

  • 1Program on Neurogenetics, Child Study Center, Department of Psychiatry, Yale University School of Medicine, 230 South Frontage Road, New Haven, Connecticut 06520, USA.

Nature
|April 13, 2012
PubMed
まとめ

脳で発現する遺伝子の珍しいde novo変異は,自閉症スペクトル障害 (ASD) のリスクを大幅に増加させます. 同じ遺伝子の複数のデノボ単一のヌクレオチド変異を特定することで,自閉症のリスクアレルを確実に特定できます.

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