Title: Molecular genetics analysis of a Chinese family with X-linked retinitis pigmentosa
Abstract: Objective To identify the disease locus and detect the mutations in an X-linked retinitis pigmentosa(XLRP)family.Methods Nine microsatellite markers were selected from the related RP2 and RP3 genes that have been identified to be linked with XLRP in this family by our previous research.Mutations were identified by CSGE and direct sequencing.Results Significant two-point Lod score was generated using marker DXS8113(Zmax=2.42,θ=0.01).The disease gene locus was confined to RPGR gene with further analysis of genetic linkage and haplotyping.Direct sequencing of the essential exon ORF15 of RPGR gene in this family revealed a GA deletion at ORF15+483_484,which has been detected by several researches.Conclusion This frame-shift mutation may be the cause of XLRP in this family.
Publication Year: 2008
Publication Date: 2008-01-01
Language: en
Type: article
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