Bellone E, Mandich P, Costa P, Dalerba L, Ajmar F
Institute of Biology and Genetics (IBiG), University of Genoa.
Boll Soc Ital Biol Sper. 1991 Oct-Nov;67(10-11):915-22.
A prenatal diagnosis of adult polycystic kidney disease (ADPKD) by DNA testing is reported. Evidence showing a linkage between the disease and the DNA markers on chromosome 16 was obtained in the family by linkage analysis and homogeneity testing with Italian families of the linked type. Prenatal diagnosis was performed either by polymerase chain reaction (PCR) of GGG1 fragment either by Southern blotting analysis of the others chromosome 16 markers. Diagnostic results were available by PCR analysis in a few hours and then were confirmed by Southern blotting of the others probes. The foetus was monitored by ultrasounds. At 26th week the foetal kidney were enlarged with small cysts and, at birth, the newborn had bilateral renal cysts, confirming the foetal genotype prediction based on flanking markers.
报道了通过DNA检测对成人多囊肾病（ADPKD）进行产前诊断的病例。通过连锁分析以及与意大利连锁类型家庭的同质性检测，在该家族中获得了疾病与16号染色体上DNA标记之间存在连锁关系的证据。产前诊断通过对GGG1片段进行聚合酶链反应（PCR）或对其他16号染色体标记进行Southern印迹分析来进行。PCR分析在数小时内即可获得诊断结果，随后通过对其他探针的Southern印迹进行确认。通过超声对胎儿进行监测。在第26周时，胎儿肾脏增大并伴有小囊肿，出生时，新生儿患有双侧肾囊肿，证实了基于侧翼标记对胎儿基因型的预测。
