小鼠白内障基因突变方式、分布及基因定位

哺乳动物发育相关的功能基因的鉴定多来源于自发或诱发突变的小鼠。小鼠白内障作为较易鉴定的性状,目前业已明确的突变多达140余个。自发突变的小鼠主要来源于大规模饲养,诱发突变主要通过X射线与ENU处理获得,基因敲除与转基因小鼠亦可获得白内障性状。已知的白内障相关基因分布于小鼠20条染色体,其中以1号染色体最多,并常于小鼠胚胎时期起始表达。小鼠白内障表型多由单基因突变引起,突变的确定主要通过F2代家系全基因组扫描、精细定位、单倍型分型与测序验证等程序。本文从小鼠白内障基因突变来源、基因分布、基因定位与基因表达等角度较为全面的阐述了小鼠先天性白内障的研究进展。

Mutation,Distribution,Positional Cloning for Cataract in the Mouse

Many identified functional genes in mammals are derived from mouse.There are about 140 mutations identified,since phenotype of cataract can be easily screened out.Spontaneous mutations are usually originated from large-scale animal breeding,and induced mutations are often obtained by radiation or ENU treatment.Sometimes,cataract can be found in knockout or transgenic mice.Known cataract genes,which are expressed in embryonic period,are known to be distributed on twenty chromosomes,and chromosome 1 harbors the largest number of cataract genes.Cataract are often caused by point mutation,which can be identified by whole genome scanning,fine mapping,haplotype analysis and DNA sequencing in F2 generation.In order to better understand the mechanisms involved in lens development and pathology,the origin of the mutation,distribution,and methods of positional cloning and gene expression are reviewed in this paper.