常染色体显性视网膜色素变性一家系基因排除定位研究

Exclusive gene mapping on 9 chromosomes in a Chinese family with autosomal dominant retinitis pigmentosa

目的对1个四代常染色体显性视网膜色素变性(autosomal dominant retinitis pigmentosa,ADRP)家系在包含已知ADRP致病基因的全部9条染色体上进行基因连锁定位。方法对家系中的所有患者进行眼科及电生理检查。在家系中对第1、3、6、7、8、11、14、17、19号染色体进行基因扫描、基因型分析及连锁分析。结果在全部9条染色体范围内未发现微卫星位点与该家系疾病表型共分离,最大lodscore小于-2。结论此家系中排除了目前已知的所有ADRP位点,此家系中应存在新的ADRP连锁位点位于上述9条染色体之外。

Objective To map the gene responsible for a four generations family with autosomal dominant retinitis pigmentosa(ADRP)on nine chromosomes including all known disease gene for ADRP. Methods Ophthalmic and electrophysiological examinations were performed in all patients in the family. Gene scan,genotyping and linkage analysis were conducted in the family on chromosome 1,3,6,7,8,11,14,17,19. Results No microsatellite was found to cosegregate with the phenotype in this family on all the nine chromosomes. The largest lod score is less than -2.Conclusion All known ADRP loci were excluded in this family, there should be a novel locus for ADRP in this family.