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九十年代初Ｄｒｙｊａ等发现部分视网膜色素变性（ＲＰ）的视紫红质基因第２３、５８、３４７密码子有异常突变，对此本文进行了检测分析。方法：通过ＰＣＲ法，分别扩增６２例ＲＰ的视紫红质基因第１和第５外显子片段，并用限制性内切酶ＭｂｏⅡ、ＤｄｅⅠ、ＭｓｐⅠ分别消化。结果：该６２例ＲＰ视紫红质基因第１和第５外显子片段无明显的丢失或延长，第２３、５８、３４７密码子也无异常点突变。结论：就本研究检测的这些ＲＰ病例的分子遗传缺陷不涉及上述密码子异常，显示了ＲＰ的遗传异质性
In the early 90’s, Dryja et al. Found abnormal mutations in codons 23, 58, and 347 of the rhodopsin gene of partial retinitis pigmentosa (RP). Methods: The first and fifth exon of rhodopsin gene of 62 cases of RP were amplified by PCR and digested with restriction endonucleases MboⅡ, DdeⅠ and MspⅠ respectively. RESULTS: No significant loss or prolongation of the exon 1 and exon 5 of the 62 rh RPA genes was detected in the 62 cases. No abnormal point mutations were found in codons 23, 58 and 347. CONCLUSION: The molecular genetic defects detected in these RP cases in this study do not involve the above codon abnormalities and show the genetic heterogeneity of RP