BALB/C小鼠的白内障突变与大片段小卫星DNA多态性的变化

THE VARIATIONS OF LARGE FRAGMENT MINISATELLITE DNA OF CATARACT INBRED MOUSE MUTATING FROM BALB/C

为了探讨ＢＡＬＢ／Ｃ小鼠白内障突变品系与ＢＡＬＢ／Ｃ小鼠保种品系二者间小卫星ＤＮＡ多态性的变化，为进一步研究变异小卫星位点与白内障突变基因的关系最终找到导致这种白内障形成的基因奠定基础，采用α３２ＰｄＣＴＰ标记的人类小卫星ＤＮＡ探针Ｍｙｏ，通过Ｓｏｕｔｈｅｒｎ杂交比较了正常ＢＡＬＢ／Ｃ和ＢＡＬＢ／Ｃ白内障突变体小卫星ＤＮＡ多态性的变化。结果：ＢＡＬＢ／Ｃ白内障小鼠种内ＤＮＡ多态性带纹分布高度一致，雌雄间无差别，表明白内障小鼠已纯种化；与正常ＢＡＬＢ／Ｃ小鼠对比，白内障小鼠ＤＮＡ在２０ｋｂ和９ｋｂ有２个位点出现大片段的小卫星ＤＮＡ插入。该动物模型的形成和突变ＤＮＡ片段的发现将对遗传性白内障基因水平的病因学研究和产前诊断方法的建立具有重要意义。

Objective:To make a distinction between BALB/C and BALB/C Cataract inbred mice mutating from BALB/C by DNA polymorphism analysis. Methods:The DNA restriction fragments by Hinf Ⅰ were hybridized after Southern Blotting by human minisatellite probe Myo labeled by α 32 P dCTP . Results:The DNA polymorphism patterns of cataract mice are showing no difference. In comparison with normal BALB/C, The BALB/C Cataract mice add two bands with the length of 20 kb and 9 kb, respectively. Conclusion:The cataract mice mutating from BALB/C, pure breded possessing two mutation bands, are of significance to human being for researching genetic cataract in genic level in the future.