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Updated: Sep 9, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

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オプティカルゲノムマッピングと次世代配列化により,レトロトランポゾン挿入とミッセンスの変異が認識され,先天性ディスカラトーシスにおけるPARN遺伝子を破壊した

Qiaoyu Cao1, Anqi Zhao2, Zhoukai Long3

  • 1Department of Dermatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.

Human mutation
|September 2, 2025
PubMed
まとめ

この研究では,SVAトランポゾン挿入を含む,PARN遺伝子の新しい複合的異性体の変種が発見され,Dyskeratosis Congenitaを引き起こす. この稀な遺伝的障害の 診断には光学マッピングの 配列が不可欠でした

キーワード:
PARN遺伝子生まれながらの発酵不全光学的なゲノムマッピングレトロトランスポゾン構造変数

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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