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find Keyword "Rhodopsin" 6 results
  • Analysis of the mutation of rhodopsin gene in an inbreeding family with autosomal recessive retinitis pigmentosa

    Objective To detect characteristics and the pathogenesis of rhodopsin (RHO) gene mutation in an inbreeding family with autosomal recessive retinitis pigmentosa (ARRP). Methods Peripheral venous blood 5-8 ml was abstracted from 8 members in the inbreeding ARRP family and 10 control individuals. DNA gene group was picked. Extron 1-5 of RHO gene was amplified by polymerase chain reaction (PCR),and the mutation of RHO gene was screened by direct DNA sequence measurement. Results The Gln-344-Arg mutation in the RHO gene was detected in 3 patients with ARRP and homozygotes of the mutation in 3 patients were found. Heterozygous of the mutation was detected in the parent of patients and 1 healthy family member. No mutation of RHO gene was found in 2 healthy family members and 10 control individuals. Conclusions The Gln-344-Arg mutation in the RHO gene may be the pathogenic factor of the ARRP family; the frequency of the mutation of RHO gene may increase in the in breeding ARRP family.(Chin J Ocul Fundus Dis,2004,20:145-148)

    Release date:2016-09-02 05:58 Export PDF Favorites Scan
  • Analysis of the mutations of rhodopsin gene in autosomal dominant retinitis pigmentosa family

    Objective To detect and analyse the mutations in rhodopsin gene of members in a family affected by autosomal dominant retinitis pigmentosa (ADRP). Methods Using the polymerase chain reaction (PCR), we amplified exon 1-5 of rhodopsin gene in patients with ADRP,and analyzed it with direct sequence measuement. Results The Gly-182-Asp mutation in the rhodopsin gene was detected in most of affected members of this ADRP family, but no mutation was detected in two affected members and the control ones. Conclusion We cannot regard the Gly-182-Asp mutation in the rhodopsin gene as the pathagenic factor of the ADRP family. It is likely there is a new gene next to the rhodopsin gene. (Chin J Ocul Fundus Dis, 2002, 18: 256-258)

    Release date:2016-09-02 06:01 Export PDF Favorites Scan
  • Search for mutations of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa

    Objective To investigate whether mutations exist in codon 58 and codon 347 of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa(ADRP). Methods Point mutations at codons 58 and 347 were detected by restriction endonuclease digestion of exons 1 and 5 amplified by polymerase chain reaction(PCR).This method was applied to screen genomic DNAs from 57 patients of 38 families with ADRP and 60 normal controls. Results Four patients from one family of ADRP were confirmed to have a point mutation at the second nucleotide of codon 58,and 6 patients from two families of ADRP were found to have a mutation at codon 347.None of these mutations were found in 60 normal subjects. Conclusion It is suggested that molecular genetic heterogeneity exists within ADRP and some subtypes of ADRP are caused by points mutations of the rhodopsin gene. (Chin J Ocul Fundus Dis,1998,14:108-110)

    Release date:2016-09-02 06:11 Export PDF Favorites Scan
  • THE CHANGES OF EXPRESSION LEVEL OF RHODOPSIN mRNA IN LIGHTDAMAGED RAT RETINAS THROUGH THE TECHNIQUE OF IN SITU HYBRIDIZATION

    PURPOSE:The changes of expression level of rhodopsin mRNA and its relationship with the morphology in light damaged rat retinas were studied. METHODS:The changes of expresson level of rhodopsin mRNA in light damaged rat retinas and the changes on retinal morphology were observed through the technique of in situ hybridization and electron microscopy. RESULTS:The hybridization signals of rhodopsin mRNA mainly distributed in the photoreceptor layer of retina,relatively b in the inner and outer segments. As the increase of light exposure time,the expression level of rhodopsin mRNA in retinas greatly decreased before the changes on morphological injury of retina. For the same eye globe of the same rat at the same time,the hybridization signals at the upper and posterior region of the retina decreased more obviously than the lower and peripheral region of the retina. CONCLUSIONS:It was demonstrated for the first time that the expression of rhodopsin mRNA was located at the photoreceptor layer of the retina. Continuous exposure to light could greatly decrease the expression of rhodopsin mRNA and the decreases differ regionally. It might be the early signals of retinal photic injury.It is a good method to study the expression level of retina mRNA through the in situ hybridization. (Chin J Ocul Fundus Dis,1997,13: 228-210)

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  • MOLECULAR GENETIC STUDY OF AUTOSOMAL DOMINANT CONGEITAL STATIONARY NIGHT BLINDNESS-ANALYSIS OF THE RHODOPSIN GENE BY PCR

    One of the major clinical characteristics of congenital stationary night blindness(CSNB)is dysfunction of rod photoreceptors of the retina.Rhodopsin,the photosensitive pigment of the rods,is essential for maintaining the normal function of rod photoreceptors.It is resonable to hypothesize that mutations or deletions of rhodopsin gene may be involved in the molecular defect of CSNB.To test this hypothesis,we are searching for rhodopsin gene mutations in patients with autosomal dominant CSNB.In this study,DNA fragments containing the coding sequences in exon 5 of rhodopsin gene were amplified by polymerase chain reaction(PCR)in 15 patients and 5 unaffected members from a large family with autosomal dominant CSNB.RFLP analysis of these DNA fragments demonstrated that in comparison with a control group of 12 normal persons,there is no obvious deletion in exon 5 of rhodopsin gene,and that mutations or deletions do not exist in codon 314,codon 347,and the third base of codon 313 as well as the first base of codon 348 of the rhodopsin gene in these CSNB patients,which suggest the molecular pathogenesis of autosomal dominant CSNB not involve mutations or deletions of these codons of the rhodopsin gene. (Chin J Ocul Fundus Dis,1993,9:66-69)

    Release date:2016-09-02 06:35 Export PDF Favorites Scan
  • The influence of human umbilical cord mesenchymal stem cells transplantation into vitreous cavity of diabetic rats on retinal morphology and the expression level of glial fibrillary acidic protein and rhodopsin

    ObjectiveTo observe the influence of human umbilical cord mesenchymal stem cells (hUCMSC) transplantation into vitreous cavity of diabetic rats on the retinal morphology, and the expression of glial fibrillary acidic protein (GFAP) and rhodopsin (RHO). Methods78 male Sprague-Dawley rats were used. 70 rats were injected with streptozotocin by tail vein injection at a dose of 40 mg/kg to establish the diabetes mellitus model, and another 8 rats were injected with 0.1 mol/L pH 4.0 citric acid buffer at the same dose as the normal control group. After 6 weeks of modeling, 10 rats were taken as the control group of diabetic model. hUCMSC suspension was injected into the right eye vitreous cavity of the remaining 60 rats, and the same volume of Dulbecco's modified Eagle/F12 medium was injected into the left vitreous cavity as control eyes. 1, 2 and 4 weeks after transplantation, follow-up experiments were performed. The experimental eyes were labeled as U1, U2, and U4 groups, while the control eyes were recorded as D1, D2, D4, and each group consisted of 20 eyes. After paraffin section and hematoxylin-eosin staining, the structure of the retina was observed by optical microscopy and the thickness of the outer nuclear layer and the inner nuclear layer (INL) were measured. The distribution and migration of hUCMSC in rat retina were observed by frozen section-tissue immunofluorescence assay. The mRNA and protein expression of GFAP and RHO in the retina were detected by real-time quantitative polymerase chain reaction (PCR) and Western blot assays. ResultsThe results of optical microscope observation showed the normal structure of retina in normal control group. The retinal nerve fiber layer (NFL) was thinned and the number of retinal ganglion cells (RGC) in the control group of diabetic rats was decreased. The decreased number and disorder arrangement of RGC were observed as well in U1, D1 rats. The RGC number of U2, U4, D2, D4 rats was gradually decreased. Compared with D4 group, the thickness of INL in U4 group was significantly increased (P < 0.05). Tissue immunofluorescence assay showed that hUCMSC were distributed along the inner limiting membrane in the retina of the U1 group, while the number of hUCMSC in the U2 group was gradually decreased, mainly in the NFL and ganglion cell layers. Real-time PCR and Western blot data indicated that the relative expression of GFAP mRNA and protein in the diabetic retina was significantly increased, and the relative expression of RHO mRNA and protein decreased gradually in the diabetic model group and the D1, D2, D4 groups. Compared with D2 and D4 groups, the mRNA and protein expression of GFAP in U2 and U4 groups were decreased, and the relative expression of RHO mRNA and protein were all increased (P < 0.01). ConclusionhUCMSC could migrate and integrate into the retina, after the transplantation into the vitreous cavity of diabetic rats, which reduced the expression of GFAP, but enhanced the expression of RHO.

    Release date:2016-11-25 01:11 Export PDF Favorites Scan
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