METHODS

Family data and DNA samples: A large Chinese family with autosomal dominant retinitis pigmentosa was collected from Hunan province (Figure 1). A complete family history was obtained and 34 individuals from the family were sampled to be used for linkage analysis with informed written consents. Family members were clinically diagnosed at the Second Xiangya Hospital of Central South University. 19 individuals were considered to be affected and 15 unaffected. 50 normal individuals with no personal or family history of RP were sampled as controls. Genomic DNA was extracted from peripheral blood by standard phenol extraction protocols. Linkage analysis: Genome-wide screening was conducted using 382 fluorescent microsatellite markers from autosomes, at a resolution of approximately 10 cM (ABI PRISM Linkage Mapping Set, Version 2.0, Foster City, CA). Multiplex PCR was carried out in a 5 µl reaction mixture containing 30 ng of genomic DNA, primary PCR buffer, 200 µM of each dNTP, 3.0 mM MgCl2, 80 pmol each of forward and reverse primers, and 0.2 U of AmpliTaq Gold DNA polymerase (Applied