常染色体显性视网膜色素变性家系基因定位的研究

目的 对一个常染色体显性视网膜色素变性大家系进行基因定位。方法 收集视网膜色素变性家系,并对该家系成员进行详细眼部检查;抽取外周血3－5ml并提取DNA;采用多个已知遗传标记与该家系致病基因位点进行连锁分析。结果 两点连锁分析结果显示该家系致病基因位点与遗传位标D3S1292连锁,在θ＝0．1时间到最大LOD值2．73。结论 D3S1292位于3号染色体长臂2区1带（3q21),从而将该家系致病基因位点大致定位于3q21附近。同时有文献报道视紫红质基因位点也位于3q染色体上,且与D3S1292邻近,因此该家系的致病基因很可能是视紫红质基因。

A study on localization of an autosomal dominant retinitis pigmentosa gene

OBJECTIVE: To report the localization of a gene for an autosomal dominant retinitis pigmentosa (ADRP) family. METHODS: We studied a large ADRP family, collected 3 - 5 ml of venous blood samples from some family members, and genomic DNA was extracted from the blood. Then two-point linkage analysis between the known markers and the disease locus was performed. RESULTS: Linkage analysis showed the maximum LOD score reaches 2.732852 at marker D3S1292 (at recombination fraction theta = 0.1). CONCLUSION: Since D3S1292 was localized at 3q21, we roughly localized the disease gene on 3q21. In the mean time, the rhodopsin gene had been reported as linked to 3q21 adjacent to D3S1292, thus we think the disease gene may be the rhodopsin gene.