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唐氏综合征小鼠模型的遗传基础。

Genetic basis for a mouse model of Down syndrome.

作者信息

Reeves R H, Gearhart J D, Littlefield J W

出版信息

Brain Res Bull. 1986 Jun;16(6):803-14. doi: 10.1016/0361-9230(86)90076-6.

Abstract

The Trisomy 16 (Ts16) mouse has been proposed as a model for Down Syndrome (DS) in humans, based on genetic homology between mouse chromosome 16 (MMU 16) and human chromosome 21 (HSA 21). Translocations of HSA 21 resulting in trisomy for only a portion of the genetic information contained on this chromosome can result in a DS phenotype. Thus, these translocations help to define a "DS region" of the chromosome. A number of genes from this DS region of HSA 21 have been mapped to MMU 16. Techniques for localizing genes on chromosomes have been used to identify the portion of MMU 16 which corresponds to the DS region of HSA 21. This region appears to be highly conserved between mouse and human, providing further support for a mouse model of DS.

摘要

基于小鼠16号染色体(MMU 16)与人类21号染色体(HSA 21)之间的基因同源性,16三体(Ts16)小鼠已被提议作为人类唐氏综合征(DS)的模型。HSA 21的易位仅导致该染色体上一部分遗传信息出现三体性,可导致DS表型。因此,这些易位有助于确定该染色体的“DS区域”。来自HSA 21这个DS区域的许多基因已被定位到MMU 16。用于在染色体上定位基因的技术已被用于识别MMU 16中与HSA 21的DS区域相对应的部分。该区域在小鼠和人类之间似乎高度保守,为DS的小鼠模型提供了进一步支持。

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