Gene Mapping and Genotype-phenotype Correlation in A Chinese Family with Autosomal Retinitis Pigmentosa

The purpose of (1) a RHO gene mutation Chinese people often chromosome dominant genetic retinal pigment degeneration (autosomal dominant RP, adRP) family gene positioning and mutation research ( 2 ) the clinical phenotype characteristics and analysis of this pedigree mutations and the relationship of the clinical phenotype . Method (1) to collect a large autosomal dominant retinitis pigmentosa families get the informed consent of the families of patients with RP history taking , visual acuity , visual field, fundus examination, some patients with retinal current Figure ( ERG ) , fundus fluorescein angiography ( FFA ) , optical coherence tomography ( OCT ) examination. (2) extracting the family members outside the peripheral venous blood and extract the DNA, and the the ADRP candidate gene mapping and positioning region candidate gene mutation detection in the pedigree . Results ( 1 ) of the retinal pigment degeneration home department a total of 5 -generation , 32 members , including 16 males , 16 females , patients with a total of 12 cases of , where male patients 6 cases of , 6 females , in line with autosomal show genetic mode . Pedigree clinical features of early onset, rapid progression of the disease , the condition is more serious . Patients 1-2 years old and he was found to have night blindness , which is the earliest cases reported RP family night blindness . Patients showed progressive the fundus bone cell-like pigmentation , reduced vision , ERG display a , b volatility decreased or even extinguished , the 50 -year-old blind ; (2) through the right known ADRP candidate gene linkage analysis , the results suggest that this pedigree candidate The gene is located on chromosome 3 RHO gene region ; the RHO gene sequence analysis showed that the first 512 bases of the second exon coding region mutations ( 512C gt ; T p.P171L ) . Conclusions (1) rhodopsin gene mutation ( P171L ) is the causative gene for the autosomal retinitis pigmentosa family . (2) the the autosomal retinitis pigmentosa Department rhodopsin gene mutation ( P171L ) led to severe clinical phenotype .