Reeders S T, Breuning M H, Ryynanen M A, Wright A F, Davies K E, King A W, Watson M L, Weatherall D J
Hum Genet. 1987 Aug;76(4):348-51. doi: 10.1007/BF00272443.
The mutation for adult polycystic kidney disease (APKD) has previously been localised to chromosome 16 by the demonstration of genetic linkage with the loci for the alpha-chain of haemoglobin and phosphoglycolate phosphatase. These studies were carried out, however, on only nine families so that the possibility remained that mutations at other genetic loci might produce the disease. Such genetic heterogeneity of linkage would invalidate the general use of chromosome 16 markers for the purposes of detection of the disease, and complicate the characterisation of APKD at the molecular level. Therefore further families were studied to address this question. A total of 28 northern European pedigrees were analysed, all apparently unrelated, and with origins in England, Scotland, Holland and eastern Finland. No evidence was found to suggest heterogeneity of genetic linkage between alpha-globin and the APKD locus in this population.
通过证明与血红蛋白α链和磷酸乙醇酸磷酸酶基因座的遗传连锁，成人多囊肾病（APKD）的突变先前已定位到16号染色体。然而，这些研究仅在9个家族中进行，因此其他基因座发生突变可能导致该病的可能性仍然存在。这种连锁的遗传异质性将使16号染色体标记物在疾病检测中的普遍应用无效，并使APKD在分子水平上的特征描述复杂化。因此，研究了更多家族以解决这个问题。总共分析了28个北欧家系，它们显然没有亲缘关系，起源于英格兰、苏格兰、荷兰和芬兰东部。在该人群中未发现证据表明α珠蛋白与APKD基因座之间存在遗传连锁异质性。
