Gal A, Artlich A, Ludwig M, Niemeyer G, Olek K, Schwinger E, Schinzel A
Institut für Humangenetik, Medizinische Universität, Lübeck, Federal Republic of Germany.
Genomics. 1991 Oct;11(2):468-70. doi: 10.1016/0888-7543(91)90159-c.
It has been shown recently that autosomal dominant retinitis pigmentosa may be caused by point mutations of the rhodopsin gene in a portion of families. In this communication, a large six-generation family with autosomal dominant RP is described. Molecular analysis by PCR amplification followed by restriction digestion or heteroduplex analysis suggested a point mutation in codon 347, in which two different mutations (Pro-347-Ser and Pro-347-Leu) have already been reported. Direct sequencing of the patients' DNA revealed a previously undescribed CCG----CGG transversion in codon 347 predicting a Pro----Arg substitution. Ophthalmological data of the patients are summarized and compared to those of patients with other mutations in the rhodopsin gene.
最近研究表明，在一部分家族中，常染色体显性遗传性视网膜色素变性可能由视紫红质基因的点突变引起。在本报告中，描述了一个患有常染色体显性遗传性视网膜色素变性的六代大家族。通过聚合酶链反应（PCR）扩增，然后进行限制性酶切消化或异源双链分析的分子分析表明，密码子347存在点突变，其中已有两种不同突变（脯氨酸347 - 丝氨酸和脯氨酸347 - 亮氨酸）的报道。对患者DNA进行直接测序发现，密码子347存在一个先前未描述的CCG向CGG的颠换，预测会发生脯氨酸向精氨酸的替代。总结了这些患者的眼科数据，并与视紫红质基因存在其他突变的患者的数据进行了比较。
