Objective To evaluate the prevalence of rhodopsin （RHO） mutations and the genotype-phenotype relationships in Chinese patients with autosomal dominant retinitis pigmentosa （ADRP） by conformation sensitive gel electrophoresis （CSGE） and direct DNA sequencing. Methods We have screened the five coding exons and splice sites of RHO gene in 27 probands who had no relativity from Chinese ADRP families and 100 normal controls to identify disease-associated mutations

using CSGE and direct DNA sequencing. Family members of some probands with disease-associated mutations were also genotyped to determine whether the RHO mutations segregated with retinitis pigmentosa （RP） in their families. Results Two RHO mutations

Pro347Leu and Pro327 （1-bp del）

were identified separately in two families

thus the frequency of RHO mutations among this set of Chinese ADRP families is about 7.4% （2/27）. Pro347Leu mutation was found in one ADRP proband as well as three her children who also had RP. She had relatively early onset at about 17 years. The only one child without this mutation had no symptom or sign of RP at age of 34. Pro327 （1-bp del） was identified in a late-onset ADRP patient

who appeared night blindness around 30 years old and in her fifties electroretinogram （ERG） has been flat in both scotopic and photopic phases. Family analysis showed that this mutation also existed in her younger dau-ghter and her elder sister

both of them also had RP. Three other family members were genotypically and phenotypically normal. Neither of the two mutations was detected in 100 normal controls.Conclusions The frequency of RHO mutations in Chinese patients was lower than that in Europe and North America. The phenotype of the patients with Pro347Leu corresponded to type 1 ADRP

with severe rod degeneration and some cone preservation later

while the phenotype of the patients carrying Pro327 （1-bp del） corresponded to type 2 ADRP

with a concomitant loss of rod and cone visual function. CSGE was found to be a sensitive

simple

and practical method for the screening of a large number of samples under highly reproducible conditions

and could be utilized in routine molecular diagnostic laboratories.