Sandford Richard N
Kidney Int. 2009 Apr;75(8):765-7. doi: 10.1038/ki.2009.17.
Rossetti et al. identify non- and incompletely penetrant alleles of PKD1. Although such alleles are well recognized in other human mendelian disorders, they have not been associated with autosomal dominant polycystic kidney disease (ADPKD). These alleles produce atypical, mild, or severe disease depending on whether they are inherited in the heterozygous or homozygous state or in trans with another mutation, providing an intriguing potential mechanism for the considerable phenotypic variability seen in families with ADPKD.
罗塞蒂等人鉴定出了多囊肾病1（PKD1）的非显性和不完全显性等位基因。尽管此类等位基因在其他人类孟德尔疾病中已广为人知，但它们尚未与常染色体显性多囊肾病（ADPKD）相关联。这些等位基因会导致非典型、轻度或重度疾病，具体取决于它们是以杂合子还是纯合子状态遗传，或者是否与另一个突变呈反式遗传，这为ADPKD家族中观察到的显著表型变异性提供了一个有趣的潜在机制。
