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目的对中国人X连锁视网膜色素变性一家系进行分子遗传学检测,报告RPGR基因突变。方法首先对该家系X染色体进行致病基因的连锁分析,然后用单链构象多态性技术和直接DNA测序方法进行基因突变分析。结果连锁分析在多态性微卫星遗传标记DXS8012和DXS8025产生正的Lod值分别为2.41(Zmax=2.40,θ=0)和1.26。进一步单倍型分析确定该家系致病基因位于Xp21.1,与RP3连锁。用RPGR基因突变分析,在外显子ORF15+483_484发现GA缺失,引起阅读框架的改变,该基因缺失突变在家系中共分离。结论报告了中国人X连锁视网膜色素变性RPGR基因外显子ORF15+483_484的GA缺失突变,丰富了中国人RPGR基因突变谱,为今后研究X连锁视网膜色素变性的基因奠定基础。
Objective To detect the gene mutation of RPGR in a Chinese pedigree with X-linked retinitis pigmentosa. Methods Firstly, the X chromosome of the pedigree was analyzed by linkage analysis of the causative genes. Single-strand conformation polymorphism and direct DNA sequencing were used to analyze the gene mutation. Results The positive Lod values of polymorphic microsatellite markers DXS8012 and DXS8025 were 2.41 (Zmax = 2.40, θ = 0) and 1.26 respectively. Further haplotype analysis confirmed that the pedigree pathogenic gene located in Xp21.1, linked with RP3. Using RPGR gene mutation analysis, deletion of GA was found in exon ORF15 + 483_484, which caused the change of reading frame. The gene deletion mutation was co-segregated in the pedigree. Conclusion The GA deletion mutation in exon ORF15 + 483_484 of RPG gene of Chinese X-linked retinitis pigmentosa was reported, which enriched the Chinese RPGR gene mutation profile and laid the foundation for the future study of X-linked retinitis pigmentosa.