Localisation of a mutation producing autosomal dominant polycystic kidney disease without renal failure

Abstract

A four generation Finnish family was identified with atypical features of adult polycystic kidney disease. All members of the extended pedigree were asymptomatic and none had developed renal failure. Previous studies have shown close linkage between the adult polycystic kidney disease locus and the alpha chain of human haemoglobin on chromosome 16, but these studies were carried out on families manifesting 'typical' clinical features of the disease. In order to determine whether the atypical clinical features observed in this Finnish family were produced by a mutation at the same or a second locus, linkage studies were carried out using a highly polymorphic DNA marker from the alpha globin cluster. Here we show that the mutation producing the disease in this Finnish family is also closely linked to alpha globin.