PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.
作者： Katja Vouk , Lana Strmecki , Jitka Stekrova , Jana Reiterova , Matjaz Bidovec
关键词: Autosomal dominant polycystic kidney disease 、 Human genetics 、 Gene 、 Mutation screening 、 Genetic heterogeneity 、 Biology 、 PKD1 、 Genetics 、 Cytogenetics 、 Disease progression
摘要: Background Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disorder caused by mutations in at least two different loci. Prior to performing mutation screening, if DNA samples of sufficient number family members are available, it worthwhile assign the gene involved progression genetic linkage analysis.
biomedcentral.com
doaj.org
springer.com参考文章(48)
Katja Vouk, Barbara Gazvoda, Radovan Komel, Fluorescent multiplex PCR and capillary electrophoresis for analysis of PKD1 and PKD2 associated microsatellite markers. BioTechniques. ,vol. 29, pp. 1186- 1190 ,(2000) , 10.2144/00296BM06
Dalgaard Oz, Bilateral polycystic disease of the kidneys; a follow-up of two hundred and eighty-four patients and their families. Acta Medica Scandinavica. ,vol. 328, pp. 1- 255 ,(1957)
B. Peral, A. C. M. Ong, V. Gamble, J. L. San Millan, P. C. Harris, C. J. Ward, C. Strong, Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations. American Journal of Human Genetics. ,vol. 58, pp. 86- 96 ,(1996)
B. Peral, R. L. Stallings, R. L. Stallings, S. Thomas, J. L. San Millán, P. C. Harris, F. Moreno, C. J. Ward, Evidence of linkage disequilibrium in the Spanish polycystic kidney disease I population. American Journal of Human Genetics. ,vol. 54, pp. 899- 908 ,(1994)
Christopher J Ward, B Peral, J Hughes, S Thomas, V Gamble, AB MacCarthy, J Sloanestanley, VJ Buckle, L Kearney, DR Higgs, PJ Ratcliffe, PC Harris, JH Roelfsema, L Spruit, JJ Saris, HG Dauwerse, DJM Peters, MH Breuning, M Nellist, PT BROOKCARTER, MM Maheshwar, I Cordeiro, H Santos, P Cabral, JR Sampson, B Janssen, ALW HESSELINGJANSSEN, AMW VANDENOUWELAND, B Eussen, S Verhoef, D Lindhout, DJJ Halley, None, The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16 Cell. ,vol. 77, pp. 881- 894 ,(1994) , 10.1016/0092-8674(94)90137-6
P. D. Wilson, Lin Geng, Xiaohong Li, C. R. Burrow, The PKD1 gene product, "polycystin-1," is a tyrosine-phosphorylated protein that colocalizes with alpha2beta1-integrin in focal clusters in adherent renal epithelia. Laboratory Investigation. ,vol. 79, pp. 1311- 1323 ,(1999)
Wanna Thongnoppakhun, Chanin Limwongse, Kriengsak Vareesangthip, Chintana Sirinavin, Duangkamon Bunditworapoom, Nanyawan Rungroj, Pa-thai Yenchitsomanus, Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP). BMC Medical Genetics. ,vol. 5, pp. 2- 2 ,(2004) , 10.1186/1471-2350-5-2
Belén Peral, Vicki Gamble, Carol Strong, Albert C.M. Ong, Jackie Sloane-Stanley, Klaus Zerres, Christopher G. Winearls, Peter C. Harris, Identification of Mutations in the Duplicated Region of the Polycystic Kidney Disease 1 Gene (PKD1) by a Novel Approach American Journal of Human Genetics. ,vol. 60, pp. 1399- 1410 ,(1997) , 10.1086/515467
Sandro Rossetti, Dominique Chauveau, Denise Walker, Anand Saggar-Malik, Christopher G. Winearls, Vicente E. Torres, Peter C. Harris, A complete mutation screen of the ADPKD genes by DHPLC. Kidney International. ,vol. 61, pp. 1588- 1599 ,(2002) , 10.1046/J.1523-1755.2002.00326.X
D. Ravine, Lj Sheffield, D.M. Danks, R.N. Gibson, R.G. Walker, P. Kincaid-Smith, Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. The Lancet. ,vol. 343, pp. 824- 827 ,(1994) , 10.1016/S0140-6736(94)92026-5