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常染色体显性多囊肾病 (ADPKD)是人类最常见的单基因遗传病之一。近几年来 ,对于其分子水平的研究取得了很大的进展 ,已发现 3个遗传位点存在突变均可导致ADPKD ,并且对其分子机制有了深入的认识。
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common human monogenic genetic diseases. In recent years, great progress has been made in the study of its molecular level. It has been found that mutations in all three genetic loci lead to ADPKD, and further understanding of its molecular mechanism has been made.