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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 determine the association of the disease gene in the pedigree of autosomal dominant retinitis pigmentosa (ADRP) with the chromosome 3 rhodopsin gene. Methods A consecutive 5-generation ADRP pedigree was selected, and blood samples from 16 normal individuals and 18 affected individuals in this pedigree were collected. 14 pairs of microsatellite marker DNA primers labeled with 6 FAM, HEX and NED fluorescent dyes were selected on chromosome 3 to analyze the linkage analysis. Results The LOD values of 14 pairs of microsatellite DNA NDA markers on chromosome 3 were both ≤ -2, confirming that 14 pairs of microsatellite marker DNA sites on chromosome 3 were not linked with the pedigree genes. Conclusion The pedigree’s virulence genes are located on other chromosomes.