Home About us Current issue Back issues Submission Instructions Advertise Contact Login   

Search Article 
  
Advanced search 
 
Saudi Journal of Kidney Diseases and Transplantation
Users online: 578 Home Bookmark this page Print this page Email this page Small font sizeDefault font size Increase font size 

ORIGINAL ARTICLE Table of Contents   
Year : 2002  |  Volume : 13  |  Issue : 4  |  Page : 462-466
Linkage Analysis: An Important Tool for Pre-Clinical Alport's Diagnosis


1 Department of Molecular Medicine & CMM, Karolinska Institute, Stockholm, Sweden; Dipartimento Struttura Clinica Medica-Patologia Medica, University of Sassari, Sassari, Italy
2 Dipartimento Struttura Clinica Medica-Patologia Medica, University of Sassari, Sassari, Italy
3 Servizio di Nefrologia, Ospedale Civile di Sassari, Sassari, Italy
4 Department of Molecular Medicine & CMM, Karolinska Institute, Stockholm, Sweden

Correspondence Address:
Milco Ciccarese
Dipartimento Struttura Clinica, Medica-Patologia Medica, University of Sassari, V. le S. Pietro 8, 07100, Sassari, Italy

Login to access the Email id


PMID: 17660668

Rights and Permissions

The phenotypic heterogeneity of Alport's syndrome (AS) is well explained by the genetic heterogeneity. Therefore, the application of genetic techniques, such as linkage analysis (LA), could be helpful in the correct diagnosis of this disease. We performed LA in a family who manifested X-linked inheritance. We used 10 fluorescent microsatellite markers to cover the q-arms of chromosome X. The poly chain reaction (PCR) products were separated on an ABI 377 Sequencer and genotypes were identified using the ABI Genescan/Genotyper software. We confirm in this family an X-linked dominant transmission of AS. All affected individuals shared the same haplotype for the region Xq22. The genetic diagnosis of AS was confirmed in individuals aged one month and 4 years before any clinical manifestation of AS. We conclude that LA is a powerful and approachable tool, which could be used in the diagnosis of AS. An accurate genetic family study using LA may be helpful for correct classification, genetic counseling, prognosis evaluation, the assessment of the risk for kidney transplantation, and for the follow-up and therapy of AS.


[FULL TEXT] [PDF]*
Print this article  Email this article
    

  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
    Viewed2412    
    Printed50    
    Emailed0    
    PDF Downloaded219    
    Comments [Add]    

Recommend this journal