摘要
An extended 5-generation family has been investigated in which 32 of the 111 family members were diagnosed as having retinitis pigmentosa (RP) The proband was a 58-year old male in whom night-blindness was first observed in early childhood, with almost loss of vision by 52 years of age The symptoms observed in other family members included night-blindness, impaired vision and visual field loss Dementia, digital abnormalities, deaf-mutism and mental retardation were variously diagnosed in a number of individuals with RP The affected and unaffected family members were tested for mutations in a range of candidate genes The 8 exons of three candidate genes have been analyzed by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA sequencing techniques A novel mutation was identified in the rhodopsin gene at codon 52 of exon 1 (TTC-TAC) that resulted in a substitution of Phe to Tyr
An extended 5-generation family has been investigated in which 32 of the 111 family members were diagnosed as having retinitis pigmentosa (RP) The proband was a 58-year old male in whom night-blindness was first observed in early childhood, with almost loss of vision by 52 years of age The symptoms observed in other family members included night-blindness, impaired vision and visual field loss Dementia, digital abnormalities, deaf-mutism and mental retardation were variously diagnosed in a number of individuals with RP The affected and unaffected family members were tested for mutations in a range of candidate genes The 8 exons of three candidate genes have been analyzed by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA sequencing techniques A novel mutation was identified in the rhodopsin gene at codon 52 of exon 1 (TTC-TAC) that resulted in a substitution of Phe to Tyr
