【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。更多还原

【Abstract】 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.更多还原