Reig C, Antich J, Gean E, Dante Heredia C, Valverde D, Baiget M, Carballo M
Secció de Genètica, Hospital Sant Joan de Déu, Barcelona.
Med Clin (Barc). 1996 Feb 17;106(6):219-21.
Mutations in the rhodopsin gene have been sought in a family with autosomal dominant retinitis pigmentosa. Screening for mutations in the rhodopsin gene was carried out by polimerase chain reaction and denaturant gradient gel electrophoresis. Direct DNA sequencing was performed for the characterization of punctual mutations. A base substitution in the exon 2 of the rhodopsin gene was detected. Direct DNA sequencing revealed a CGC to CTG change in codon 135, that substitutes arginine for leucine residue in rhodopsin. The mutation segregates with the disease phenotype in the family. The mutation Arg-135-Leu causes the retinitis pigmentosa phenotype in the family, where the disease is inherited following an autosomal dominant pattern.
在一个常染色体显性遗传性视网膜色素变性家族中，人们对视紫红质基因的突变进行了研究。通过聚合酶链反应和变性梯度凝胶电泳对视紫红质基因的突变进行筛查。采用直接DNA测序法来鉴定点突变。在视紫红质基因的外显子2中检测到一个碱基替换。直接DNA测序显示密码子135处发生了从CGC到CTG的变化，这使得视紫红质中的精氨酸残基被亮氨酸取代。该突变在家族中与疾病表型共分离。Arg-135-Leu突变导致了该家族中的视网膜色素变性表型，在这个家族中，疾病遵循常染色体显性模式遗传。
