Daoust M C, Reynolds D M, Bichet D G, Somlo S
Department of Biochemistry, Hôpital du Sacré-Coeur de Montréal, Université de Montréal, Québec, Canada.
Genomics. 1995 Feb 10;25(3):733-6. doi: 10.1016/0888-7543(95)80020-m.
Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disease with loci on chromosomes 16p and 4q. It has a moderately high spontaneous mutation rate, although the relative frequency of such mutations at each gene locus is unknown. In studying genetic heterogeneity in the French-Canadian population, we identified a family in which a classical clinical presentation of ADPKD resulted from a mutation at a locus genetically distinct from either of the previously described loci for this disease. This suggests the existence of a third genetic locus for ADPKD.
常染色体显性多囊肾病（ADPKD）是一种基因异质性疾病，其基因座位于16号染色体短臂和4号染色体长臂。尽管每个基因座此类突变的相对频率尚不清楚，但它具有中等偏高的自发突变率。在对法裔加拿大人的群体进行基因异质性研究时，我们发现了一个家族，该家族中ADPKD的典型临床表现源自一个基因座的突变，该基因座在遗传上不同于先前描述的该疾病的任何一个基因座。这表明存在ADPKD的第三个基因座。
