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Mamm Genome. 2003 Nov;14(11):788-95.

A Line 1 insertion in the Factor IX gene segregates with mild hemophilia B in dogs.

Author information

1
Department of Population Medicine and Diagnostic Sciences, Comparative Coagulation Section, College of Veterinary Medicine, Cornell University, Upper Tower Road, Ithaca, NY 14853, USA. mbb9@cornell.edu

Abstract

We undertook the biochemical and molecular characterization of hemophilia in a large pedigree of German wirehaired pointers. Males affected with hemophilia B had approximately 5% normal Factor IX coagulant activity and a proportional reduction of Factor IX protein concentration, indicative of a mild hemophilia B phenotype. Using Southern blot analyses and PCR amplification of genomic DNA, we discovered a large, 1.5-kb insertion in intron 5 of the Factor IX gene of an affected male. The insert consists of a 5' truncated canine Line-1 followed by an approximately 200-bp 3' poly (A) tract, flanked by a 15-bp direct repeat. The insert can be traced through at least five generations and segregates with the hemophilia B phenotype in this breed. This is the first description of a Factor IX mutation associated with mild hemophilia B in a non-human species and provides evidence for a recent Line-1 insertion event in the canine genome.

PMID:
14722728
DOI:
10.1007/s00335-003-2290-z
[Indexed for MEDLINE]

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