遗传连锁分析法对一常染色体显性遗传性视网膜色素变性家系的基因定位研究

Genetic linkage analysis of localizing an autosomal dominant retinitis pigmentosa gene in a family

目的 :对一个常染色体显性遗传性视网膜色素变性 (autosomal dominant retinitis pigm entosa,ADRP)大家系进行基因定位。 方法 :收集 ADRP家系 ,对该家系成员进行详细眼科检查确诊为视网膜色素变性 (retinitis pigmentosa,RP) ;采集外周血 3～ 5 m l并抽提 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标记 D3S12 92连锁 ,在 θ=0 .1时得到最大 L OD分数 2 .73。结论 :由于 D3S12 92位于 3号染色体长臂2 1区 (3q2 1) ,从而将该家系致病基因位点大致定位于 3q2

Objective:To localize the gene of autosomal dominant retinitis pigmentosa(ADRP) in a family. Methods: A large ADRP family was studied and 3 5 ml of venous blood from some family members was collected, 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 reached 2.732852 at marker D3S1292 (at recombination fraction θ=0.1). Conclusion: The gene responsible for ADRP is located in 3q21 eara.