Molecular analysis of X-linked recessive retinitis pigmentosa

Objective To make molecular genetic analysis for the proband of an X-linked recessive retinitis pigmentosa(XLRRP)family.Methods Mutation analysis was carried out by polymerase chain reaction and direct sequencing of all exons,including the mutation hot spot-exon open reading frame 15(ORF15)and exon/intron boundaries of retinitis pigmentosa GTPase regulator(RPGR)gene.Results Two novel synonmous mutations(c.2166AG and c.3396CT)of ORF15,and four polymorphisms(c.29-15GA,c.469+63CT,c.1227+67AG and c.1675-101AT)were detected in the proband of the family.Conclusion The genetic aetiology of this XLRP family remained unknown.