常染色体显性遗传性先天性全白内障家系致病基因的排除性定位  

Exclusive Mapping of Autosomal Dominant Congenital Total Cataract Family Disease Genes

作　　者：赫红丹[1] 张继超[1] 张光辉[1] 马春杨[1] 董红[1] 曹利[1] 

机构地区：[1]黑龙江省医院眼科,黑龙江哈尔滨150001

出　　处：《黑龙江医学》2015年第6期614-615,共2页Heilongjiang Medical Journal

基　　金：黑龙江省卫生和计划生育委员会科研项目(2013376)

摘　　要：目的定位一个常染色体显性遗传性先天性全白内障家系的致病基因。方法收集一个常染色体显性遗传性先天性全白内障家系的资料,在已知先天性白内障致病基因和位点附近,选择9个微卫星标记,对此家系进行连锁分析,使用Mlink软件采用对数优势记分法(LOD)计算LOD值。结果未发现所选微卫星位点与该家系疾病表型共分离,LOD值均为负值。致病基因与已知的先天性白内障7个候选基因不存在连锁关系。结论该家系的致病基因有待于进一步研究。Objective To map the gene for autosomal dominant congenital total cataract family disease genes. Methods Blood samples were collected. Linkage analysis was carried out using 9 microsatellite markers in close proximity to genes and loci previously reported involving in human cataract. Two- point linkage analysis lod scores were calculated through Mlink. Results All selected microsatellite markers were not cosegregated with the phenotype. LOD scores showed negative values. No linkage relation was found between the pathogenic gene and 7 ADCC candidate genes. Conclusion Further study should be carried out for the screen of another gene or locus associated to ADCC.

关 键 词：先天性白内障 常染色体显性遣传 连锁分析 微卫星标记 

分 类 号：R776.1[医药卫生—眼科]