Molecular genetics analysis of a Chinese family with X-linked retinitis pigmentosa

朱静; 张晓莉; 府伟灵; 赵红霞; 张峰; 贾若愚; 李新

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Molecular genetics analysis of a Chinese family with X-linked retinitis pigmentosa

更新时间：2026-01-09

- Molecular genetics analysis of a Chinese family with X-linked retinitis pigmentosa
- Journal of Army Medical University Vol. 30, Issue 10, Pages: 980-982(2008)
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  CLC： R446.9;R596.1;R774.13
- Published：2008
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朱静,张晓莉,府伟灵,赵红霞,张峰,贾若愚,李新.1例X连锁型视网膜色素变性家系的分子遗传学研究[J].陆军军医大学学报(原第三军医大学学报),2008,30(10):980-982.

　ZHU Jing,ZHANG Xiao-li,FU Wei-ling,ZHAO Hong-xia,ZHANG Feng,JIA Ruo-yu,LI Xin.Molecular genetics analysis of a Chinese family with X-linked retinitis pigmentosa[J].J Amry Med Univ (J Third Mil Med Univ),2008,30(10):980-982.
朱静,张晓莉,府伟灵,赵红霞,张峰,贾若愚,李新.1例X连锁型视网膜色素变性家系的分子遗传学研究[J].陆军军医大学学报(原第三军医大学学报),2008,30(10):980-982. DOI：

　ZHU Jing,ZHANG Xiao-li,FU Wei-ling,ZHAO Hong-xia,ZHANG Feng,JIA Ruo-yu,LI Xin.Molecular genetics analysis of a Chinese family with X-linked retinitis pigmentosa[J].J Amry Med Univ (J Third Mil Med Univ),2008,30(10):980-982. DOI：

摘要

目的对1例来自云南省的X连锁型视网膜色素变性家系进行相关分子遗传学研究。方法在本研究小组前期工作中对该家系已初步确定的X连锁型遗传位点——RP2和RP3处选取具有高信息量的9个微卫星位标进行精细单倍型分析。在定位的候选基因RP3基因即RPGR基因上，使用构象敏感凝胶电泳（conformation sensitive gel electrophoresis

CSGE）的方法对其1~14号外显子进行突变筛选的同时对已有报道的突变热点区——外显子ORF15进行直接测序以寻找致病突变。结果通过精细定位扫描及相关单倍型分析，将该例家系的致病基因定位在RP3位点。RPGR基因1～14号外显子经CSGE的方法进行突变筛选，未发现有异常电泳条带；通过直接对突变热点区外显子ORF15的测序，在该例家系中检测到1个在国内外均有报道的热点突变：g.ORF15+483_484delGA。结论 g.ORF15+483_484delGA移码突变导致了该家系产生X连锁型视网膜色素变性。

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 (Z

max

=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 fa

mily 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.

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