HOME HELP FEEDBACK TABLE OF CONTENTS ARCHIVE SUBSCRIPTIONS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Venceslá, A. Articles by Tizzano, E. F. Search for Related Content PubMed PubMed Citation Articles by Venceslá, A. Articles by Tizzano, E. F.

Marker and real-time quantitative analyses to confirm hemophilia B carrier diagnosis of a complete deletion of the F9 gene

^* Department of Genetics, Hospital de Sant Pau, Barcelona;
^° °Haemophilia Unit, Hospital La Paz, Madrid, Spain

Correspondence: Eduardo F. Tizzano, M.D., Ph.D. Genetics, Hospital de Sant Pau, Padre Claret 167, 08025 Barcelona, Spain. Fax: international +34.93.2919494. Phone: international +34.93.2919361. E-mail: etizzano{at}santpau.es

Approximately 3% of hemophilia B patients have major deletions in the F9 gene, half of which are complete. Marker and quantitative PCR analyses were employed for carrier diagnosis in a family of a mentally retarded hemophilia B patient with a total deletion of the F9 gene and neighbor genes. Both methodologies allowed the confirmation of carrier or non-carrier status.

Key words: haemophilia B, F9 gene, deletions, carrier detection, marker and quantitative analysis, real-time PCR.