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遗传性疾病的啮齿动物模型。

Rodent models of genetic disease.

作者信息

Cox Roger D, Brown Steve D M

机构信息

MRC Mammalian Genetics Unit, Medical Research Council, Harwell, Oxfordshire OX11 0RD, UK.

出版信息

Curr Opin Genet Dev. 2003 Jun;13(3):278-83. doi: 10.1016/s0959-437x(03)00051-0.

Abstract

The genetic study of rats and mice using natural variants, natural mutations, chemical or radiation induced mutations, engineered mutations and conditional engineered mutations has provided the tools for investigating the genetics of disease. The completion of the mouse genomic sequence and progress towards sequencing the rat genome in the past year will enable the molecular identification of quantitative trait loci and induced mutations. Sequence-based single nucleotide polymorphism discovery and a greater understanding of the haplotype structure of inbred strains is revitalising quantitative trait locus mapping and there are now plans for an ambitious eight-way recombinant inbred cross and renewed interest in existing resources such as heterogeneous stocks. In the past year there have been refinements to ENU mutagenesis approaches including balancer chromosomes and a new gene-driven approach.

摘要

利用自然变异、自然突变、化学或辐射诱导突变、工程突变和条件工程突变对大鼠和小鼠进行的遗传学研究,为研究疾病遗传学提供了工具。小鼠基因组序列的完成以及过去一年大鼠基因组测序工作的进展,将有助于对数量性状基因座和诱导突变进行分子鉴定。基于序列的单核苷酸多态性发现以及对近交系单倍型结构的更深入了解,正在振兴数量性状基因座定位研究,目前已有计划开展一项雄心勃勃的八向重组近交系杂交实验,并重新关注诸如异质群体等现有资源。在过去一年里,ENU诱变方法得到了改进,包括平衡染色体和一种新的基因驱动方法。

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