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Updated: Sep 10, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

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ミッセンスのUBQLN2変異と関連した日本の性パラペルギー

Kazuki Watanabe1,2, Tatsuya Ema3, Kenji Shimizu4

  • 1Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.

Journal of human genetics
|August 21, 2025
PubMed
まとめ

UBQLN2の遺伝子変異は,アミオトロフィック横筋硬化症 (ALS) のような運動ニューロン疾患を引き起こす可能性があります. この研究では,家族で早期発症性性パラペルギー (SPG) を引き起こす新しいUBQLN2変種が特定され,長期の患者モニタリングの必要性が強調されています.

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

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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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