Ryynanen M, Dolata M M, Lampainen E, Reeders S T
Department of Obstetrics and Gynaecology, Central University Hospital of Kuopio, Finland.
J Med Genet. 1987 Aug;24(8):462-5. doi: 10.1136/jmg.24.8.462.
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.
一个四代芬兰家族被发现患有成人多囊肾病的非典型特征。这个大家族的所有成员都没有症状，也没有出现肾衰竭。先前的研究表明，成人多囊肾病基因座与16号染色体上人类血红蛋白的α链之间存在紧密连锁，但这些研究是在表现出该疾病“典型”临床特征的家族中进行的。为了确定在这个芬兰家族中观察到的非典型临床特征是由同一基因座还是第二个基因座的突变产生的，使用来自α珠蛋白基因簇的高度多态性DNA标记进行了连锁研究。我们在此表明，在这个芬兰家族中导致该疾病的突变也与α珠蛋白紧密连锁。
