Skip Navigation

This Article
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Turco, A. E.
Right arrow Articles by Pignatti, P. F.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Turco, A. E.
Right arrow Articles by Pignatti, P. F.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© 1995 Oxford University Press

OTHER

A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family

Alberto E. Turco*, Sandro Rossetti, Elena Bresin, Stefano Corra, Linda Gammaro1, Giuseppe Maschio1 and Pier Franco Pignatti

Institute of Biol. & Genetics, The University of Verona School of Medicine 37134 Verona, Italy 1Division of Medical Nephrology, The University of Verona School of Medicine 37134 Verona, Italy

*To whom correspondence should be addressed

Received February 13, 1995; Revised April 25, 1995; Accepted April 25, 1995

We have looked for disease-causing mutations in the PKD1 gene in 20 unrelated ADPKD probands from northern Italy, all members of families in which our previous studies had indicated linkage to PKD1. Using PCR with primer pairs located in the 3' unique region of the gene and heteroduplex DNA analysis, we have detected novel aberrant bands in five affected individuals from the same family, which were absent in 13 other unaffected family members. Cloning and automated DNA sequencing revealed a C to T transition at nucleotide position 3817 of the published cDNA sequence, which created a premature stop codon. The mutation destroyed a MspA11 restriction site, and the abnormal restriction pattern was observed on genomic DNA from all the affected family members. RT—PCR and restriction analysis performed on peripheral white blood cell mRNA showed that in the affected members, both the mutant and the normal transcript are represented. This mutation was not found in the probands of the other families studied. To our knowledge, this is the first nonsense mutation described in the PKD1 gene.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Hum Mol GenetHome page
P. C. Harris
Autosomal dominant polycystickidney disease: clues to pathogenesis
Hum. Mol. Genet., September 1, 1999; 8(10): 1861 - 1866.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
A. Bacolla, A. Jaworski, T. D. Connors, and R. D. Wells
PKD1 Unusual DNA Conformations Are Recognized by Nucleotide Excision Repair
J. Biol. Chem., May 18, 2001; 276(21): 18597 - 18604.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.