Background Pax-6 gene plays an important role in the process of eye development. This study was to determine the role of pax-6 in the axial myopia produced by hyperopic optical defocus and form deprivation in infant ...Background Pax-6 gene plays an important role in the process of eye development. This study was to determine the role of pax-6 in the axial myopia produced by hyperopic optical defocus and form deprivation in infant monkeys Methods Among seven normal infant rhesus monkeys (aged 1 to 1 5 months), five wore -3 00 D spectacle lenses over their right eyes and zero-powered lenses over their left eyes Monocular form deprivation was produced by eyelid fusion in two monkeys Ten weeks later, the monkeys were sacrificed by an overdose of barbiturates and their eyes were removed immediately A 5 mm×5 mm button of retina and sclera was taken from the posterior poles along with a 4-mm optic nerve RNA was isolated separately from each of these three types of tissues After that, reverse transcription polymerase chain reaction (RT-PCR) was used for determining gene expression in the retina, sclera and optic nerve Semi-quantitative analyses were performed on the PCR products Results As expected, the optically induced hyperopic defocus and the form deprivation produced myopic growth For the lens-treatment monkeys, pax-6 gene expression in the retinas of the defocused eyes was significantly higher than in the retinas of the left eyes ( t =5 703, P =0 005) However, there were no analogous significant differences between pax-6 expression in the scleras or the optic nerves For the two form-deprived monkeys, there were no obvious differences in pax-6 gene expression in the retinas or the optic nerves Conclusion The result that the expression of pax-6 was enhanced by hyperopic defocus in the infant monkey retina suggests that pax-6 may be involved in vision-dependent eye growth and emmetropization展开更多
Background Mutations in PAX6 gene have been shown to be the genetic cause of aniridia, which is a severe panocular eye disease characterised by iris hypoplasia. However, there is no study to do genetic analysis of ani...Background Mutations in PAX6 gene have been shown to be the genetic cause of aniridia, which is a severe panocular eye disease characterised by iris hypoplasia. However, there is no study to do genetic analysis of aniridia, although there are several case reports in China. Here, we describe a mutation analysis of PAX6 in a large Chinese family with aniridia. Methods Genomic DNA from venous blood samples was prepared. Haplotype analysis was performed with two genetic markers ( D11S904 and D11S935). Fourteen exons of the PAX6 gene were amplified from genomic DNA. Polymerase chain reaction ( PCR) products of each exon were analysed by single strand conformational polymorphism (SSCP). The PCR products having an abnormal pattern were sequenced to confirm the mutation. Results Significant evidence for allele sharing in affected patients was detected suggesting that PAX6 mutation links to aniridia in this family. An extra band corresponding to exon 9 in PAX6 was found by single strand conformational polymorphism analysis in all the aniridia patients in this family, but not detected in the unaffected members. A mutation of C to T was detected by sequencing at the nucleotide 1080 that converts the Arg codon (CGA) to the termination codon (TGA). Conclusions Aniridia is caused by a nonsense mutation of PAX6 gene in the large Chinese kindred. Genetic test is important to prevent the transmission of aniridia to their offsprings in the kindred by prenatal diagnosis.展开更多
基金ThestudywassupportedbygrantsfromtheNationalNaturalScienceFoundationofChina (No .3 0 10 0 2 0 5and 3 0 1710 0 1)andfromtheFokYingTungEducationFoundation (No .910 43 )
文摘Background Pax-6 gene plays an important role in the process of eye development. This study was to determine the role of pax-6 in the axial myopia produced by hyperopic optical defocus and form deprivation in infant monkeys Methods Among seven normal infant rhesus monkeys (aged 1 to 1 5 months), five wore -3 00 D spectacle lenses over their right eyes and zero-powered lenses over their left eyes Monocular form deprivation was produced by eyelid fusion in two monkeys Ten weeks later, the monkeys were sacrificed by an overdose of barbiturates and their eyes were removed immediately A 5 mm×5 mm button of retina and sclera was taken from the posterior poles along with a 4-mm optic nerve RNA was isolated separately from each of these three types of tissues After that, reverse transcription polymerase chain reaction (RT-PCR) was used for determining gene expression in the retina, sclera and optic nerve Semi-quantitative analyses were performed on the PCR products Results As expected, the optically induced hyperopic defocus and the form deprivation produced myopic growth For the lens-treatment monkeys, pax-6 gene expression in the retinas of the defocused eyes was significantly higher than in the retinas of the left eyes ( t =5 703, P =0 005) However, there were no analogous significant differences between pax-6 expression in the scleras or the optic nerves For the two form-deprived monkeys, there were no obvious differences in pax-6 gene expression in the retinas or the optic nerves Conclusion The result that the expression of pax-6 was enhanced by hyperopic defocus in the infant monkey retina suggests that pax-6 may be involved in vision-dependent eye growth and emmetropization
基金This work was suppofled by grants from the Chinese National 973 Project(2002CB510100),863 Project(2003AA205070),the Ministry of Education 211 Project and the grants from the Beijing Ministry of Science and Technology(2002—489).
文摘Background Mutations in PAX6 gene have been shown to be the genetic cause of aniridia, which is a severe panocular eye disease characterised by iris hypoplasia. However, there is no study to do genetic analysis of aniridia, although there are several case reports in China. Here, we describe a mutation analysis of PAX6 in a large Chinese family with aniridia. Methods Genomic DNA from venous blood samples was prepared. Haplotype analysis was performed with two genetic markers ( D11S904 and D11S935). Fourteen exons of the PAX6 gene were amplified from genomic DNA. Polymerase chain reaction ( PCR) products of each exon were analysed by single strand conformational polymorphism (SSCP). The PCR products having an abnormal pattern were sequenced to confirm the mutation. Results Significant evidence for allele sharing in affected patients was detected suggesting that PAX6 mutation links to aniridia in this family. An extra band corresponding to exon 9 in PAX6 was found by single strand conformational polymorphism analysis in all the aniridia patients in this family, but not detected in the unaffected members. A mutation of C to T was detected by sequencing at the nucleotide 1080 that converts the Arg codon (CGA) to the termination codon (TGA). Conclusions Aniridia is caused by a nonsense mutation of PAX6 gene in the large Chinese kindred. Genetic test is important to prevent the transmission of aniridia to their offsprings in the kindred by prenatal diagnosis.