Veneziano L, D'Angelo A R, Burrai L, Perugia G, Gentile V, Potenza L, Iampieri M P, Novelletto A, Novelli G, Frontali M
Dipartimento di Biologia, Università Tor Vergata, Roma, Italia.
Eur Urol. 1992;21 Suppl 1:57-9. doi: 10.1159/000474892.
We report the results of a biological and molecular study carried out on 11 Italian families, with a total of 111 individuals in which adult dominant polycystic kidney disease segregates. A restriction fragment length polymorphism analysis was performed. Two families have shown a genetic heterogeneity even if not phenotypically different from the other ones: they resulted unlinked to 16p markers. A prenatal diagnosis has been performed in a family of the linked type.
我们报告了一项对11个意大利家庭进行的生物学和分子学研究结果,这些家庭共有111名成员,其中成人显性多囊肾病呈分离状态。进行了限制性片段长度多态性分析。有两个家庭表现出遗传异质性,尽管在表型上与其他家庭并无差异:结果显示它们与16号染色体短臂(16p)标记不连锁。已对一个连锁类型的家庭进行了产前诊断。