一个常染色体显性遗传视网膜色素变性家系疾病基因排除性定位分析  

Exclusive gene mapping on retinitis pigmentosa with markers on chromosomes 3 in a Chinese kindred

作　　者：刘征[1] 邓昊[1] 席兴华[2] 夏家辉[1] 潘乾[1] 戴和平[1] 杨永佳[1] 邓汉湘[1] 夏昆[1] 郑多[1] 

机构地区：[1]中南大学中国医学遗传学国家重点实验室,长沙410078 [2]中南大学湘雅二医院眼科

出　　处：《中华眼科杂志》2003年第4期206-208,共3页Chinese Journal of Ophthalmology

基　　金：国家自然科学基金资助重大项目 ( 3 98962 0 0 ) ;国家自然科学基金资助项目 ( 3 9980 0 18) ;2 0 0 0年高等学校全国优秀博士学位论文作者专项资金资助项目 ( 2 0 0 0 2 4) ;'国家 863计划基金资助项目( 2 0 0 1AA2 2 70 11)

摘　　要：目的　确定一个常染色体显性遗传视网膜色素变性 (autosomaldominantretinitispigmentosa,ADRP)家系中的疾病基因与 3号染色体视紫红质基因的关系。方法　选择一个连续 5代发病的ADRP家系 ,采集到该家系中 16个正常个体、18个受累个体的血样。选取 3号染色体上的 14对用 6 FAM、HEX、NED 3种荧光染料标记的微卫星标记DNA引物 ,对该家系进行连锁分析。结果　 3号染色体上的 14对微卫星NDA标记位点的LOD值均≤ - 2 ,证实 3号染色体上的 14对微卫星标记DNA位点与该家系致病基因不连锁。结论　该家系的致病基因位于其他染色体上。Objective To study the relationship between the rhodopsin gene on chromosome 3 and autosomal dominant retinitis pigmentosa (ADRP) in a Chinese kindred. Methods Sixteen normal persons and 18 RP patients in a ADRP family were recruited. Genome scan method based on fluorescence labeled (using 3 different labels: 6 FAM, HEX, and NED) microsatellite markers with multiplex PCR system was used to identify loci influencing susceptibility to ADRP. Fourteen microsatellites (D3S1297, D3S1263, D3S1266, D3S1289, D3S1300, D3S3681, D3S1271, D3S1292, D3S1569, D3S1279, D3S1614, D3S1262, D3S1580 and D3S1311) on chromosome 3 were used as genetic markers. Linkage analysis (using Genescan3.0, GeneScan Analysis 2.1, Genotyper 2.1 and Designer sofe system) was performed using these markers. Results The LOD value was ≤-2 in all 14 microsatellites in chromosome 3, indicating that there was no linkage between these markers and RP related gene in this kindred. Conclusion The RP related gene in this kindred is located on chromosomes other than chromosome 3 and is not caused by the mutation of rhodopsin gene.

关 键 词：常染色体 显性遗传 视网膜 色素变性 疾病基因 排除性 定位分析 

分 类 号：R774.1[医药卫生—眼科]