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目的探讨常染色体显性遗传型视网膜色素变性（ａｕｔｏｓｏｍａｌｄｏｍｉｎａｎｔｒｅｔｉｎｉｔｉｓｐｉｇｍｅｎｔｏｓａ，ＡＤＲＰ）患者视紫红质（ｒｈｏｄｏｐｓｉｎ，ＲＨＯ）基因是否存在突变。方法应用聚合酶链反应（ｐｏｌｙｍｅｒａｓｅｃｈａｉｎｒｅａｃｔｉｏｎ，ＰＣＲ）扩增ＲＨＯ第１、５外显子基因片段，以限制性核酸内切酶酶切消化技术检测３８个ＡＤＲＰ家系的５７名患者和６０名正常对照者ＲＨＯ第５８、３４７密码子的突变。结果１个ＡＤＲＰ家系的４名患者第５８密码子发生点突变，另２个ＡＤＲＰ家系的６名患者第３４７密码子也出现点突变，而对照者未发现上述两种突变。结论ＡＤＲＰ存在分子水平的遗传异质性，某些ＡＤＲＰ是由于ＲＨＯ基因突变所致
Objective To investigate the gene mutation of rhodopsin (RHO) in patients with autosomal dominant retinitis pigmentosa (ADRP). Methods The exon 1 and exon 1 of RHO gene were amplified by polymerase chain reaction (PCR). Fifty-seven ADRP pedigrees and 60 normal controls were detected by restriction endonuclease digestion Mutation of codon 58,347 of RHO. Results A mutation was found in the codon 58 of four patients in one ADRP pedigree and a point mutation in codon 347 of six patients in the other two ADRP pedigrees. However, no mutation was found in the controls. Conclusion ADRP molecular genetic heterogeneity, some of the ADRP is due to mutations in the RHO gene