Autosomal dominant polycystic kidney disease: identification of two polymorphisms

被引:1
作者
Sahnoun, Safa [1 ]
Barbouch, Samia [2 ]
Fredj, Sondess Hadj [1 ]
Khedher, Adel [2 ]
Messaoud, Taieb [1 ]
机构
[1] Hop Enfant, Lab Biochim & Biol Mol, Tunis, Tunisia
[2] Serv Nephrol & Med A, Tunis, Tunisia
关键词
polycystic kidney disease; Tunisian ADPKD patient; polymorphisms; PKD1; GENE; MUTATION; PROTEIN; CELLS;
D O I
10.1684/abc.2015.1036
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
The identification of polymorphism A4059V associated with the 12276 A>G at exon 45 of the PKD1 gene in a Tunisian polycystic patient.
引用
收藏
页码:181 / 183
页数:3
相关论文
共 14 条
[1]   The effect of caffeine on renal epithelial cells from patients with autosomal dominant polycystic kidney disease [J].
Belibi, FA ;
Wallace, DP ;
Yamaguchi, T ;
Christensen, M ;
Reif, G ;
Grantham, JJ .
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2002, 13 (11) :2723-2729
[2]  
BENMAIZ H, 1980, SEM HOP PARIS, V56, P931
[3]   POLYCYSTIC KIDNEY-DISEASE [J].
BOURQUIA, A ;
RAMDANI, B ;
JABRANE, AJ ;
KHAJIJ, T ;
ZAID, D .
REVUE DE MEDECINE INTERNE, 1989, 10 (04) :313-318
[4]  
GLUCKSMANNKUIS MA, 1995, CELL, V81, P289
[5]   Comparison of phenotypes of polycystic kidney disease types 1 and 2 [J].
Hateboer, N ;
Dijk, MAV ;
Bogdanova, N ;
Coto, E ;
Saggar-Malik, AK ;
San Millan, JL ;
Torra, R ;
Breuning, M ;
Ravine, D .
LANCET, 1999, 353 (9147) :103-107
[6]   Estimating prevalence in single-gene kidney diseases progressing to renal failure [J].
Levy, M ;
Feingold, J .
KIDNEY INTERNATIONAL, 2000, 58 (03) :925-943
[7]   A SIMPLE SALTING OUT PROCEDURE FOR EXTRACTING DNA FROM HUMAN NUCLEATED CELLS [J].
MILLER, SA ;
DYKES, DD ;
POLESKY, HF .
NUCLEIC ACIDS RESEARCH, 1988, 16 (03) :1215-1215
[8]   PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein [J].
Mochizuki, T ;
Wu, GQ ;
Hayashi, T ;
Xenophontos, SL ;
Veldhuisen, B ;
Saris, JJ ;
Reynolds, DM ;
Cai, YQ ;
Gabow, PA ;
Pierides, A ;
Kimberling, WJ ;
Breuning, MH ;
Deltas, CC ;
Peters, DJM ;
Somlo, S .
SCIENCE, 1996, 272 (5266) :1339-1342
[9]  
Neophytou P, 1989, HUM GENET, V98, P437
[10]   The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease [J].
Rossetti, S ;
Burton, S ;
Strmecki, L ;
Pond, GR ;
San Millán, JL ;
Zerres, K ;
Barratt, TM ;
Ozen, S ;
Torres, VE ;
Bergstralh, EJ ;
Winearls, CG ;
Harris, PC .
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2002, 13 (05) :1230-1237