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  • Title: A novel RPGR gene mutation in a Chinese family with X-linked dominant retinitis pigmentosa.
    Author: Li Y, Dong B, Hu AL, Cui TT, Zheng YY.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Aug; 22(4):396-8. PubMed ID: 16086276.
    Abstract:
    OBJECTIVE: To report a novel mutation in RPGR gene in a Chinese family with X-linked dominant retinitis pigmentosa(XLRP). METHODS: Genetic linkage analysis was performed on the known genetic loci for XLRP with a panel of polymorphic markers, then the mutations were identified by single-strand conformation polymorphism(SSCP) and direct sequencing. RESULTS: Significant two-point Lod score was generated using marker DXS8025 (Zmax=2.4, theta =0). The disease gene locus was confined to Xp21.1 with further analysis of genetic linkage and haplotype. Mutations screening of RPGR gene in this family revealed a GA deletion at ORF15+483-484 which caused the open reading frameshift. This novel mutation co-segregated with the affected members of the pedigree, but it was not present in the unaffected relatives. CONCLUSION: The above finding expands the spectrum of RPGR mutations causing XLRP in Chinese family and is useful for further genetic consultation and genetic diagnosis.
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