Examining the Role of Polymorphisms in Exon 25 of the
ADPKD
PKD1 Gene
Polymorphism
Journal
Reports of biochemistry & molecular biology
ISSN: 2322-3480
Titre abrégé: Rep Biochem Mol Biol
Pays: Iran
ID NLM: 101637937
Informations de publication
Date de publication:
Jul 2019
Jul 2019
Historique:
entrez:
14
12
2019
pubmed:
14
12
2019
medline:
14
12
2019
Statut:
ppublish
Résumé
Autosomal dominant polycystic kidney disease (ADPKD) is a highly prevalent life-threatening monogenic disorder with high morbidity and mortality. Roughly 1:400-1000 individuals are affected with this disease worldwide. The development of ADPKD is largely attributed to mutations in the polycystic kidney disease The genomic DNA of 36 Iranian patients with ADPKD was isolated using the standard salting out method. The PCR products were directly sequenced and analyzed. The frequencies of CAG>GAG, ATG>GTG, GTC>GTA, and GTG>ATG polymorphisms in exon 25 of the PKD1 gene were 34 (94.44%), 33 (91.67%), 26 (72.22%), and 5 (13.89%), respectively. The most frequent polymorphism associated with ADPKD was the homozygous CAG→GAG which causes an amino acid change of Q[Gln] to E[Glu] at codon 3005. Our data suggests that there is potentially a common polymorphism of
Sections du résumé
BACKGROUND
BACKGROUND
Autosomal dominant polycystic kidney disease (ADPKD) is a highly prevalent life-threatening monogenic disorder with high morbidity and mortality. Roughly 1:400-1000 individuals are affected with this disease worldwide. The development of ADPKD is largely attributed to mutations in the polycystic kidney disease
METHODS
METHODS
The genomic DNA of 36 Iranian patients with ADPKD was isolated using the standard salting out method. The PCR products were directly sequenced and analyzed.
RESULTS
RESULTS
The frequencies of CAG>GAG, ATG>GTG, GTC>GTA, and GTG>ATG polymorphisms in exon 25 of the PKD1 gene were 34 (94.44%), 33 (91.67%), 26 (72.22%), and 5 (13.89%), respectively. The most frequent polymorphism associated with ADPKD was the homozygous CAG→GAG which causes an amino acid change of Q[Gln] to E[Glu] at codon 3005.
CONCLUSION
CONCLUSIONS
Our data suggests that there is potentially a common polymorphism of
Types de publication
Journal Article
Langues
eng
Pagination
102-110Références
Lancet. 2007 Apr 14;369(9569):1287-1301
pubmed: 17434405
Mol Cell Biol. 2006 Feb;26(4):1538-48
pubmed: 16449663
Pol J Radiol. 2016 Sep 17;81:441-453
pubmed: 27733888
J Am Soc Nephrol. 2009 Jan;20(1):205-12
pubmed: 18945943
Cell. 1994 Jun 17;77(6):881-94
pubmed: 8004675
Kidney Int. 2001 Aug;60(2):484-94
pubmed: 11473631
Proc Natl Acad Sci U S A. 2011 May 10;108(19):7985-90
pubmed: 21518865
Int J Mol Cell Med. 2016 Spring;5(2):123-4
pubmed: 27478809
Orphanet J Rare Dis. 2014 May 01;9:69
pubmed: 24886261
Clin J Am Soc Nephrol. 2014 Feb;9(2):406-15
pubmed: 24370765
N Engl J Med. 2004 Jun 17;350(25):2622; author reply 2622
pubmed: 15201424
Korean J Intern Med. 2009 Sep;24(3):165-8
pubmed: 19721850
J Lab Clin Med. 2003 Feb;141(2):91-101
pubmed: 12577044
Nucleic Acids Res. 1988 Feb 11;16(3):1215
pubmed: 3344216
J Clin Invest. 2002 Feb;109(4):481-9
pubmed: 11854320
Lab Invest. 1999 Oct;79(10):1311-23
pubmed: 10532593
Nephrol Dial Transplant. 2002 Jan;17(1):75-80
pubmed: 11773467
N Engl J Med. 2008 Oct 2;359(14):1477-85
pubmed: 18832246
Annu Rev Med. 2009;60:321-37
pubmed: 18947299
Am J Hum Genet. 2001 Feb;68(2):355-63
pubmed: 11156533
BMC Med Genet. 2011 Dec 20;12:164
pubmed: 22185115
Int J Clin Exp Pathol. 2015 Oct 01;8(10):13289-92
pubmed: 26722532
Iran Biomed J. 2014 Jul;18(3):143-50
pubmed: 24842140
Clin Kidney J. 2012 Oct;5(5):405-11
pubmed: 26019816
Proc Natl Acad Sci U S A. 2011 Jun 28;108(26):10679-84
pubmed: 21670265
JAKSTAT. 2013 Apr 1;2(2):e23650
pubmed: 24058808
Int J Nephrol Renovasc Dis. 2010;3:69-83
pubmed: 21694932
Eur J Pediatr. 2012 Sep;171(9):1285-300
pubmed: 21898032
Science. 1996 May 31;272(5266):1339-42
pubmed: 8650545
Int J Urol. 2011 Mar;18(3):240-2
pubmed: 21332816
J Clin Invest. 1999 Nov;104(10):1459-68
pubmed: 10562308