To delineate the genetic determinants associated with retinitis pigmentosa (RP), a hereditary retinal disorder, we recruited four large families manifesting cardinal symptoms of RP. We localized these families to regions on the human genome harboring the α and β subunits of phosphodiesterase 6 and identified mutations that were absent in control chromosomes. Our data suggest that mutations in PDE6A and PDE6B are responsible for the retinal phenotype in these families.

中文翻译：

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在家族性色素性视网膜炎病例中发现磷酸二酯酶6突变。

为了描述与遗传性视网膜疾病色素性视网膜炎（RP）相关的遗传决定因素，我们招募了四个表现出RP基本症状的大家族。我们将这些家族定位于人类基因组中具有磷酸二酯酶6的α和β亚基的区域，并确定了控制染色体中不存在的突变。我们的数据表明PDE6A和PDE6B中的突变是这些家族中视网膜表型的原因。