遗传性角膜基质变性小鼠及其突变基因的定位  

The New Mutation Mouse with Heritable Disease of Cornea Matrix Denaturalization and the Mapping of Mutation Gene

作　　者：邵义祥[1] 吴宝金 薛整风 陈兵 茅慧华 赵明 李厚达 

机构地区：[1]扬州大学比较医学中心

出　　处：《南京师大学报（自然科学版）》2006年第2期99-102,共4页Journal of Nanjing Normal University(Natural Science Edition)

基　　金：国家十五科技攻关计划(2001BA710B);江苏省动物预防医学重点实验室开放基金;南通市社会发展基金资助项目(S5037)

摘　　要：以ENU诱导C57BL/6小鼠获得的角膜浑浊突变系小鼠(B6-Cd)为研究对象,遗传试验及病理切片证实为单基因显性遗传的角膜基质变性;采用连锁分析法,用39个微卫星对角膜基质变性小鼠的150只F2代个体[(B6×D2)F1×D2]进行基因组扫描,发现突变基因与D13M it262(距着丝粒42.6 cM)的LOD值为40.54,与D13M it76(距着丝粒47 cM)的LOD值为38.77,突变基因初步定位于13号染色体距着丝粒45.24 cM处.本研究提供了一种人类遗传性角膜基质变性的极好模型,为该病发生机制、药物开发及突变基因的克隆提供了新型材料.B6-Cd, a new mutant with corneal opacities obtained from C57BL/6 mice using ENU-induced mutagenesis by our lab, are the materials in this study. Histological sections and heredity test indicate that the pathological changes are of cornea matrix denaturalization controlled by single dominant gene. Chain analysis method is used, and in order to map the mutation gene, 39 microsatellites are selected to scan the genome after having bred 150 F2 mutation mice [ （B6 × D2） F1 × D2]. It is found that, 1 case of recombinant between mutation gene and D13Mit262（47 cM from the centromere） appears in 32 F2 mice and the LODS of 6. 38 confirms their relationship of linkage. Then, detected by D13Mit262 and D13Mit76（42. 6 cM from the centromere）, with the number of F2 mice going up to 150, the mutant gene is found to lie on chromosome 13 between D13Mit262 and D13Mit76, about 45.24 cM from the centromere. B6-Cd can serve as an excellent model for heritable disease of human cornea matrix denaturalization. Such new materials can be used in studying the mechanism of cornea matrix denaturalization, exploiting drug and cloning the mutation gene.

关 键 词：角膜基质变性 突变 基因 定位 小鼠 

分 类 号：Q952.1[生物学—动物学]