Genetic linkage analysis of localizing an autosomal dominant retinitis pigmentosa gene in a family / 第二军医大学学报

ABSTRACT

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 ?=0.1). Conclusion: The gene responsible for ADRP is located in 3q21 eara.