Home About us Editorial board Ahead of print Browse Articles Search Submit article Instructions Subscribe Contacts Login 
  • Users Online: 484
  • Home
  • Print this page
  • Email this page
ORIGINAL ARTICLE
Year : 2019  |  Volume : 24  |  Issue : 1  |  Page : 44

Molecular genetic analysis of polycystic kidney disease 1 and polycystic kidney disease 2 mutations in pedigrees with autosomal dominant polycystic kidney disease


1 Department of Cellular and Molecular Biology, North Tehran Branch, Islamic Azad University, Teheran, Iran
2 Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Teheran, Iran

Correspondence Address:
Dr. Masoud Garshasbi
Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran
Iran
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jrms.JRMS_835_18

Rights and Permissions

Background: Dysfunction of polycystin-1 or polycystin-2, the proteins encoded by polycystic kidney disease 1 (PKD1) and PKD2, respectively, are the cause of autosomal dominant PKD (ADPKD). This genetically heterogeneous monogenic disorder is the most common inherited kidney disease. The disease manifests are progressive cyst growth, renal enlargement, and renal failure, due to abnormal proliferation of kidney tubular epithelium. Materials and Methods: In this study, mutation analysis of PKD1 and PKD2 genes in nine Iranian families was performed using next-generation sequencing. All patients met the diagnostic criteria of ADPKD. Results: Mutations were found in all 9 families in PKD1 gene, comprising 2 novel and 7 previously reported mutations. No mutation in PKD2 was identified. Conclusion: Finding more mutations and expanding the spectrum of PKD1 and PKD2 mutations can increase the diagnostic value of molecular testing in the screening of ADPKD patients.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed482    
    Printed49    
    Emailed0    
    PDF Downloaded104    
    Comments [Add]    

Recommend this journal