V2EX autosomal recessive

Autosomal Recessive

Definition / 释义

autosomal recessive(常染色体隐性):一种遗传方式。致病基因位于常染色体上,且个体通常需要从父母双方各遗传到一份致病等位基因(即两份致病拷贝)才会发病;只有一份致病基因的人多为携带者,通常不表现症状或症状较轻。(在遗传学中还有其他遗传方式,如常染色体显性、X 连锁等。)

Pronunciation (IPA) / 发音(IPA)

/tsoml rssv/

Examples / 例句

Autosomal recessive disorders often appear when both parents are carriers.
常染色体隐性遗传的疾病常在父母双方都是携带者时出现。

Because the mutation is autosomal recessive, the child may be affected even if neither parent shows symptoms, especially in families with consanguinity.
由于该突变属于常染色体隐性遗传,即使父母都没有症状,孩子仍可能患病,尤其在近亲婚配的家系中更常见。

Etymology / 词源

autosomal 来自 autosome(常染色体),由 auto-(“自身”)+ -some(源自希腊语 soma,“身体”)构成,用来区分非性染色体recessive 源自拉丁语 recedere(“退回、后退”),在遗传学中表示某性状/等位基因在杂合状态下不易表现出来,需要两份致病拷贝才更可能显现。

Related Words / 相关词汇

Notable Works / 文献与作品中的用例

  • Thompson & Thompson Genetics in Medicine(《汤普森医学遗传学》)
  • Emery’s Elements of Medical Genetics and Genomics(《埃默里医学遗传学与基因组学》)
  • Robbins and Cotran Pathologic Basis of Disease(《罗宾斯-科特兰疾病的病理学基础》)
  • Harrison’s Principles of Internal Medicine(《哈里森内科学》)
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