V2EX triplosensitivity

Triplosensitivity

释义 Definition

三倍剂量敏感性(triplosensitivity):遗传学/基因组学术语,指某个基因或基因组区域拷贝数增加到三份(如发生重复)时,会导致表型异常或致病风险增加的特性。常用于拷贝数变异(CNV)解读与临床遗传评估。(也可泛指对“剂量增加”特别敏感的基因/区域。)

发音 Pronunciation (IPA)

/trplosnstvti/

例句 Examples

Triplosensitivity means a gene can cause problems when extra copies are present.
三倍剂量敏感性指的是:当某个基因出现额外拷贝时,可能引发健康问题。

In clinical CNV interpretation, evidence for triplosensitivity can support classifying a duplication as pathogenic.
在临床拷贝数变异解读中,关于三倍剂量敏感性的证据可支持将某些重复变异归类为致病。

词源 Etymology

由 **triplo-**(表示“三倍/三重”,源自希腊语词根,常见于 triple 等词)+ sensitivity(敏感性)+ 名词后缀 -ity 组合而成,字面意思就是“对三倍剂量的敏感性”。该词主要在现代基因组医学语境中使用,用来与 haploinsufficiency(单倍剂量不足)相对。

相关词 Relatd Words

文献/作品中的用例 Literary Works

  • Clinical Genome Resource (ClinGen) Dosage Sensitivity Curation(临床基因组资源的剂量敏感性评估条目与指南中常用该术语)
  • ACMG/ClinGen 关于拷贝数变异(CNV)解读的共识/技术标准文件(讨论重复变异时常涉及 triplosensitivity 证据)
  • Nature GeneticsAmerican Journal of Human Genetics (AJHG) 等期刊的 CNV 与基因剂量研究论文(在讨论“重复致病机制”时可能出现该词或相关表述)
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