Clinical And Genetic Analysis Of A Family With Autosomal Dominant Retinitis Pigmentosa

Purpose:To investigate the clinical manifestations and genetic condition of a Chinese family with autosome dominant retinitis pigmentosa (adRP), and to analysis the relationship of the genotype and phenotype.Methods:Detailed clinical investigations have been collected Then the family tree was pictured. Genomic DNA was extracted from peripheral blood of25family members by standard phenol extraction protocols. Microsatellite (STR) markers tightly linked to genes known to be responsible for adRP were selected for linkage analysis. The DNA and markers were mixed, then the multiplex PCR was carried out. The PCR products run in the ABI PRISM3100automated DNA Sequencer. The two-point LOD scores between the disease locus and markers were calculated. Exons and adjacent splice junctions of the candidate gene were amplified and resequenced directly by the ABI PRISM3100automated DNA sequencer to detect mutations.Results:There are49members in the five generations Chinese family, Peripheral blood samples from25individuals were collected.11patients were distributed in three successive generations, and the gender difference was no significant, from which a autosomal dominant inheritance characteristic was demonstrated. Tpically night blindness history and bone spicule pigmentation, optic disk pallor, narrowed vessels and chorioretinal atrophy were be found in all the affected members. Other clinical features contained early onset age, and varying degrees of ametropia in most of them. The asymptomatic parents were found from one symptomatic member V1, which suggested incomplete penetrance of the mutation. Excluding mapping confirmed a maximum two-point LOD score of3.20with the marker D19S418which was near PRPF31. Resequencing confirmed that the causal mutation was in PRPF31:c.358-359del AA.Conclusions:we identified a mutation gene (c.358-359del AA) at the Exon5of PRPF31in a ADRP Chinese family and explained the expression of the mutation in this family. The finding expands the phenotypic and mutation spectrum of the disease in Chinese people. Even if there have no effective treatment for RP, the discovery of the mutation could help to operate prenatal diagnosis clinical, so as to achieve the purpose of disease prevention。...