常染色体显性遗传性先天性白内障一家系致病基因的初步定位  

Gene mapping of a pedigree with autosomal dominant congenital cataract

作　　者：齐艳华[1] 贾红艳[1] 黄尚志[2] 林辉[1] 谷静芝[1] 苏虹[1] 张铁英[1] 高雅[1] 

机构地区：[1]哈尔滨医科大学附属第二医院眼科,150086 [2]中国医学科学院基础医学研究所中国协和医科大学基础医学院医学遗传学系

出　　处：《中华眼科杂志》2004年第12期824-827,共4页Chinese Journal of Ophthalmology

基　　金：黑龙江省科技厅自然科学基金 (D0 2 1 8)

摘　　要：目的　初步定位常染色体显性遗传性先天性白内障 (ADCC)一家系的致病基因。方法　收集ADCC一家系资料 ,在已知先天性白内障致病基因和位点附近 ,选择合适的短串联重复序列多态性标记 (STRP) ,对ADCC一家系进行连锁分析 ,使用Mlink软件采用对数优势记分法 (LOD)计算LOD值。结果　在STRP中 ,D17S80 5、D17S12 94及D17S12 93与致病基因位点连锁的最大LOD值分别为2 0 3、2 4 9及 2 2 2 (重组率θ =0 )。结论　该ADCC家系的致病基因初步定位在第 17对染色体上 ;CRYBA1基因为候选基因。Objective To map the gene for autosomal dominant congenital cataract (ADCC) in a Chinese family.Methods Blood samples were collected from 14 members of this family. Linkage analysis was carried out using short tandem repeat polymorphism (STRP) in close proximity to genes and loci previously reported involving in human cataract. Two-point linkage analysis lod scores were calculated. Results The mutation gene locus in this pedigree was mapped to 17q, an 11.78-cM interval between markers D17S1288 and D17S933. Significant positive maximum LOD scores (Z max) at recombination fraction (θ) 0, were obtained for markers D17S805 (Z max=2.03), D17S1294 (Z max=2.49), and D17S1293 (Z max=2.22). Conclusions The mutation gene in this ADCC pedigree is located at chromosome 17q. This is the first report of an autosomal dominant congenital nuclear cataracts located at this locus. This result will be helpful for further studying of the pathogenesis of cataract.

关 键 词：常染色体显性遗传性先天性白内障 家系 致病基因 候选基因 染色体 定位 

分 类 号：R776.1[医药卫生—眼科]