Mass genetics study of rhodopsin point mutations in retinitis pigmentosa

张晓莉; 阴正勤; 张雪; 府伟灵

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Mass genetics study of rhodopsin point mutations in retinitis pigmentosa

Updated：2026-03-12

- Mass genetics study of rhodopsin point mutations in retinitis pigmentosa
- Mass genetics study of rhodopsin point mutations in retinitis pigmentosa
- 解放军医学杂志（英文版） 2004年第5期页码：297-301
- Affiliations：
  
  1. Clinical Laboratory Center Southwest Hospital
  2. Third Military Medical University
  3. ,China
  4. Department of Ophthalmology and Visual Sciences Southwest Hospital
- Author bio：
- Funds：
- DOI：
  中图分类号： R774.1
- 纸质出版：2004
- Accepted：
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Mass genetics study of rhodopsin point mutations in retinitis pigmentosa[J]. 解放军医学杂志（英文版）, 2004,(5):297-301.

[1]张晓莉,阴正勤,张雪,府伟灵.Mass genetics study of rhodopsin point mutations in retinitis pigmentosa[J].Journal of Medical Colleges of PLA,2004(05):297-301.
Mass genetics study of rhodopsin point mutations in retinitis pigmentosa[J]. 解放军医学杂志（英文版）, 2004,(5):297-301. DOI：

[1]张晓莉,阴正勤,张雪,府伟灵.Mass genetics study of rhodopsin point mutations in retinitis pigmentosa[J].Journal of Medical Colleges of PLA,2004(05):297-301. DOI：

摘要

Abstract

<正>Objective: To evaluate the incidence and pattern of rhodopsin （RHO） mutations in Chinese patients with retinitis pigmentosa （RP）. Methods: Conformation sensitive gel electrophoresis （CSGE） and direct DNA sequencing were applied to detect point mutations that occurred in the five coding exons and splice sites of RHO gene in 98 index patients with RP. Results: Four patients of one ADRP family were found to have a missense mutation at codon 347

Pro347Leu. One late-onset RP patient and her daughter

without clinical expression at present

were discovered to have a novel frameshift mutation at codon 327

Pro327 （1-bp del） . Neither of the two mutations was found in 100 normal controls. Ala299Ser was found in one RP patient. Two control subjects also had Ala299Ser

suggesting its nonpathogenicity and just single nucleotide polymorphism （SNP）. Conclusion: Two RP patients had rhodopsin mutations

thus the expected frequency of RHO mutations in RP is about 2.0% （95% confidence interval: 0.3%-4.4%）. A highly cons

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