Dissertation
Dissertation > Medicine, health > Ophthalmology > Retina and optic nerve diseases > Retinal disease

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

Author SunAn
Tutor LiShouLing
School Anhui Medical University,
Course Ophthalmology
Keywords Autosomal dominant retinitis pigmentosa Rhodopsin gene Gene mutation Clinical phenotype
CLC R774.1
Type Master's thesis
Year 2010
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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 .

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