OBJECTIVETo map the gene responsible for a three generations family with autosomal dominant retinitis pigmentosa (ADRP) and screen the mutation in candidate genes.

METHODSFor a 14-member family with 7 suspected patients, systematic and ophthalmic examinations were performed including visual acuity, ophthalmoscopy, perimetry and electrophysiologic test. After the genomic DNA was extracted, genome scanning was performed, and candidate genes were screened for potential mutations.

RESULTSThe maximal two-point LOD score was obtained at D1S252 with a value of 2.02 (θ=0.00), and multi-point LOD score reached its maximum 2.28 at D1S252. However, no mutations were detected in two candidate genes in this region, namely PRPF3 and SEMA4A by direct sequencing.

CONCLUSIONSignificant evidence for linkage was found at the chromosome region of 1p21.1-q23.3. However, neither PRPF3 nor SEMA4A has harbored a mutation. There may exist an additional gene which is responsible for this disease.