Valverde D, Vázquez-Gundín F, del Rio E, Calaf M, Fernández J L, Baiget M
Laboratorio de Genética Molecular, Centro Oncológico de Galicia, La Coruña, Spain.
Ophthalmic Genet. 1998 Dec;19(4):197-202. doi: 10.1076/opge.19.4.197.2312.
Autosomal recessive retinitis pigmentosa (ARRP) is a degenerative disorder of photoreceptors. Mutations in several genes encoding different proteins of the visual cascade are described. The inheritance of two intragenic markers within the interstitial retinol binding protein (IRBP) gene was established in 45 Spanish families with a history of ARRP. Homozygosity mapping and cosegregation analyses were positive in 19 families. Only one heterozygous T-C transition at position 3024 (exon 1) was detected in one consanguineous family. This variant was identified as a rare polymorphism and was present in 5% of the chromosomes analyzed.
常染色体隐性遗传性视网膜色素变性（ARRP）是一种光感受器退行性疾病。已描述了几个编码视觉信号级联反应中不同蛋白质的基因突变。在45个有ARRP病史的西班牙家庭中确定了间质视黄醇结合蛋白（IRBP）基因内两个基因内标记的遗传情况。19个家庭的纯合性定位和共分离分析呈阳性。在一个近亲家庭中仅检测到3024位（外显子1）处的一个杂合T-C转换。该变异被鉴定为罕见多态性，在所分析的5%的染色体中存在。
