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Updated: Sep 10, 2025

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症例報告: 昏睡状態から遺伝学的洞察: 中国の新生児CTLN1における新たな病原性変異の特定

Lijing Deng1, Yaping Liu1, Kai Chen2

  • 1Department of Neonatology, Shenzhen Third People's Hospital (The Second Affiliated Hospital, Southern University of Science and Technology), Shenzhen, Guangdong, China.

Frontiers in pediatrics
|August 21, 2025
PubMed
まとめ

尿素循環障害であるシトルリネミアI型 (CTLN1) は,新しいASS1遺伝子変異と関連しています. この研究は,CTLN1の既知の遺伝的原因を拡張する新しい病原性変異を特定しています.

キーワード:
アルギニンサキネート合成酵素遺伝子 (ASS1)症例報告シトルリネミアタイプI (CTLN1)ミニゲン分析スプライスサイト変種

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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