Skip Navigation

This Article
Right arrow Print PDF (2726K)
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 arrow Search for citing articles in:
ISI Web of Science (154)
Right arrowRequest Permissions
Right arrow Commercial Re-use Guidelines
for Open Access NAR Content
Google Scholar
Right arrow Articles by Winship, P. R.
Right arrow Articles by Brownlee, G. G.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Winship, P. R.
Right arrow Articles by Brownlee, G. G.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Nucleic Acids Research, 1984, Vol. 12, No. 23 8861-8872
© 1984

MOLECULAR BIOLOGY

Carrier detection in haemophilia B using two further intragenic restriction fragment length polymorphisms

Peter R. Winship*, Don S. Anson, Charles R. Rizza+ and George G. Brownlee

Sir William Dunn School of Pathology, University of Oxford South Parks Road, Oxford OX1 3RE +Haemophilia Centre, Churchill Hospital Oxford OX3 7LJ, UK

*To whom reprint requests should be sent

Received September 26, 1984. Revised November 7, 1984. Accepted November 7, 1984.

A normal human population has been screened for the existence of further restriction fragment length polymorphisms (RFLPs) in the clotting factor IX gene in addition to the TaqI polymorphism already characterised (1,2). Two polymorphic loci were found, both within 6 Kb of the TaqI polymorphism within the body of the factor IX gene. One of the polymorphisms has been shown to be due to either the presence or absence of a particular recognition site for the restriction enzyme Xmnl. The other, visualised as a difference in fragment pattern produced by digestion with either HinfI or DdeI, has two allelic forms differing by a 50 bp element of inserted DNA. Sequence analysis has shown the inserted element to be in a region of Z type DNA sequence, the insertion representing a duplication of flanking sequence on either side. The two polymorphisms are inherited in simple Mendelian fashion and have both been used to diagnose haemophilia B carrier status. It is estimated that the combined use of these polymorphisms in the factor IX gene, despite linkage disequilibrium between the 3 polymorphic loci, should enable carrier status to be determined in approximately 66% of all haemophilia B families.


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
 Mol. Pathol.Home page
D J Bowen
Haemophilia A and haemophilia B: molecular insights
Mol. Pathol., April 1, 2002; 55(2): 127 - 144.
[Abstract] [Full Text] [PDF]

Home page
 Mol. Pathol.Home page
D J Bowen
Haemophilia A and haemophilia B: molecular insights
Mol. Pathol., February 1, 2002; 55(1): 1 - 18.
[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.