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Updated: May 3, 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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統合失調症における稀な破壊的な突然変異の多遺伝子負荷

Shaun M Purcell1, Jennifer L Moran2, Menachem Fromer3

  • 11] Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA [2] Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA [3] Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA [4] Analytic and Translational Genetics Unit, Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA [5] Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.

Nature
|January 28, 2014
PubMed
まとめ

統合失調症の遺伝子は複雑で,多くの遺伝子にわたる多くの希少変異が含まれています. エクソームシーケンシングは多遺伝的負荷を明らかにし,電圧ゲートカルシウムチャネルとARCシグナル伝達複合体を重要な領域として強調しています.

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