Fukuda Y
Department of Pediatrics, Juntendo University School of Medicine.
Nihon Rinsho. 1992 Dec;50(12):3093-9.
Autosomal dominant polycystic kidney disease (ADPKD) is one of common single gene disorders. The development of molecular genetic techniques has shown that mutant PKD1 gene assigned to ADPKD was closely linked to alpha-globin on the short arm of chromosome 16. This location was established when genetic linkage was found between ADPKD and a highly polymorphic region at the 3' end of the alpha-globin cluster (3' HVR). The discover of genetic linkage markers such as 3' HVR probe has provided a diagnostic test in presymptomatic stage. We performed this diagnostic test using DNA probes in 3 patients with ADPKD of one Japanese family. They also showed PKD1 gene linkage as previously described by Reeders et al. Linkage analysis of the PKD1 gene might be available to diagnostic test of ADPKD. DNA diagnosis of ADPKD however has to be performed carefully because of an ethical standpoint.
常染色体显性多囊肾病（ADPKD）是常见的单基因疾病之一。分子遗传学技术的发展表明，与ADPKD相关的突变型PKD1基因与16号染色体短臂上的α-珠蛋白紧密连锁。当发现ADPKD与α-珠蛋白簇3'端（3'HVR）的一个高度多态性区域之间存在遗传连锁时，确定了该位置。诸如3'HVR探针等遗传连锁标记的发现提供了一种症状前阶段的诊断测试。我们使用DNA探针在一个日本家族的3例ADPKD患者中进行了这项诊断测试。他们也如Reeders等人之前所描述的那样显示出PKD1基因连锁。PKD1基因的连锁分析可能可用于ADPKD的诊断测试。然而，从伦理角度出发，ADPKD的DNA诊断必须谨慎进行。
