DNA Test for Phosphofructokinase in English Springer Spaniels

The genetic defect underlying phosphofructokinase deficiency in English Springer Spaniels has been identified by research groups at the University of Pennsylvania. It is a tiny change (point mutation) in the M-type phosphofructokinase gene. The DNA test involves determining the sequence (ie the structure) of the gene in the critical region by amplifying the part of the gene containing the mutation using the polymerase chain reaction.

This disorder shows an autosomal recessive mode of inheritance, and has also been shown to be present in American Cocker Spaniels.

This test requires 2mls EDTA blood. Samples for testing should be sent, together with a completed DNA Testing form and payment of £70 inc VAT for each sample to Genetic Services, Animal Health Trust, Lanwades Park, Kentford, Newmarket, Suffolk CB8 7UU.

Enquiries should be made to Symone Ingram telephone +44 (0) 1638 555621 or fax +44 (0) 1638 555643 or via e-mail to dnatesting@aht.org.uk.