Trent R J, Wallace R C
Clinical Immunology Research Centre, University of Sydney, NSW, Australia.
J Med Genet. 1989 Jan;26(1):6-9. doi: 10.1136/jmg.26.1.6.
DNA polymorphisms associated with adult polycystic kidney disease and detected by restriction enzymes PvuII and RsaI were sought in 18 members of a Greek Cypriot family. The adult polycystic kidney disease (APKD) defect was shown to segregate with a specific 3'HVR PvuII DNA polymorphism and enabled exclusion of APKD in two children incorrectly diagnosed by ultrasound. An unusual problem of the DNA linkage approach in detection of APKD is illustrated. This occurred after coinheritance of alpha+ thalassaemia and APKD, which resulted in an altered band size for the (+) RsaI restriction fragment length polymorphism.
在一个塞浦路斯希腊族家庭的18名成员中，寻找与成人多囊肾病相关且可通过限制性内切酶PvuII和RsaI检测到的DNA多态性。结果显示，成人多囊肾病（APKD）缺陷与一种特定的3'HVR PvuII DNA多态性共分离，并排除了两名经超声错误诊断的儿童患APKD的可能。文中阐述了DNA连锁分析方法在检测APKD时出现的一个特殊问题。这一问题出现在α+地中海贫血和APKD共同遗传之后，导致（+）RsaI限制性片段长度多态性的条带大小发生改变。
