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常染色体显性遗传多囊肾病（ＡＤＰＫＤ）是终末期肾衰的主要原因，发病率高达１／１０００［１］。其基因突变定位在第１６号染色体短臂１区３带的ＰＫＤ１位点［２］，后来发现ＡＤＰＫＤ存在遗传异质性，定位了ＰＫＤ２、ＰＫＤ３位点［３］。国际上常用的ＰＫＤ１位点相邻
Autosomal dominant polycystic kidney disease (ADPKD) is the leading cause of end-stage renal failure, the incidence of up to 1/1000 [1]. The gene mutation locates on the PKD1 locus in the 1st and 3rd region of the short arm of chromosome 16 [2]. Later, it was found that there was genetic heterogeneity in ADPKD, and PKD2 and PKD3 sites were located [3]. Internationally used PKD1 loci adjacent