1 Boucher C,Sandford R.Autosomal dominant polycystic kidney disease (ADPKD,MIM173900,PKD1 and PKD2 genes,protein products known as polycystin-1 and polycystin-2).Eur J Hum Genet,2004,5:347-354. 2 Romao EA,Moyses Neto M,Teixeira SR,et al.Renal and extrarenal manifestations of autosomal dominant polycystic kidney disease.Braz J Med Biol Res,2006,4: 533-538. 3 Tan YC,Blumenfeld J,Rennert H.Autosomal dominant polycystic kidney disease: Genetics,mutations and microRNAs.Biochim Biophys Acta,2011,10:1202-1212. 4 Rossetti S,Strmecki L,Gamble V,et al.Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.Am J Hum Genet,2001,68:46-63. 5 Deltas CC.Mutations of the human polycystic kidney disease 2 (PKD2) gene.Hum Mutat,2001,18:13-24. 6 McConnell RS,Rubinsztein DC,Fannin TF,et al.Autosomal dominant polycystic kidney disease unlinked to the PKD1 and PKD2 loci presenting as familial cerebral aneurysm.J Med Genet,2001,4:238-240. 7 Pei Y,Obaji J,Dupuis A,et al.Unified criteria for ultrasonographic diagnosis of ADPKD.J Am Soc Nephrol,2009;20:205-212. 8 Reeders ST,Breuning MH,Davies KE,et al.A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16.Nature,1985,6037: 542-544. 9 Binczak-Kuleta A,Rozanski J,Domanski L,et al.DNA microsatellite analysis in families with autosomal dominant polycystic kidney disease (ADPKD): the first Polish study.J Appl Genet,2006,4:383-389. 10 Bae Y,Kim H,Paik M,et al.Characterization of microsatellite markers to diagnose ADPKD.Mol Cell Probes,2004,18:155-159. 11 Collins FS,Brook s LD,Chak ravarti A.A DNA polymorphism discovery resource fo r research on human genetic variation.Genome Res,1998,8:1229-1231. 12 Wang DG,Fan JB,Siao CJ,et al.L arge-scale identification,mapping,and genotyping of single-nucleotide polymorphism s in the human genome.Science,1998,5366:1077-1082. 13 Peters DJ,Ariyurek Y,van Dijk M,et al.Mutation detection for exons 2 to 10 of the polycystic kidney disease 1 ( PKD1) -gene by DGGE.Eur J Hum Genet,2001,12:957-960. 14 Zhang DY,Zhang SZ,Tang B,et al.Detection of polycystic kidney disease gene 2 mutations in the Hans by PCR-SSCP.Acad J Sec Mil Med Univ,2002,23:413-416. 15 Zhang SZ,Mei CL,Zhangd,et al.Mutation analysis of autosomal dominant polycystic kidney disease genes in Han Chinese.Nephron Exp Nephrol,2005,100:e63-e76. 16 Rossetti S,Chauveau D,W alker D,et al.A complete mutation screen of the ADPKD gen es by DHPLC.Kidney Int,2002,5:1588-1599. 17 张树忠,张宇红,张殿勇,等.应用变性高效液相色谱技术检测汉族人1型多囊肾致病基因突变.中华医学遗传学杂志,2006,3:283-288. 18 Chou LS,Lyon E,Wittwer CT.A comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography formutation scanning: cystic fibrosis transmembrane conductance regulator gene as a model.Am J Clin Pathol,2005,3:330-338. 19 梅长林,张维莉,葛守一,等.应用基因表达谱芯片研究多囊肾组织基因表达的变化.肾脏病与透析肾移植杂志,2002,11:307-322. 20 Rodey GE,R evelsK,Ful ler TC.Epitope specificity of HLA class I alloantibod ies: II Stability of cross2 reactive group antibody patterns over extended time periods.Transp lantation,1997,6:885-893. 21 Schouten JP,McElgunn CJ,Waaijer R,et al.Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification.Nucleic Acids Res,2002,12:57. 22 于国鹏,齐隽,龙飞,等.MLPA在常染色体显性遗传多囊肾病基因诊断中的应用.上海交通大学学报,2011,31:957-961
