Graphic: corner
spacer
Graphic: corner
spacer spacer
nav left edge
nav right edge
spacer

Phosphofructokinase Deficiency     PFK Test    Code 366

Test Pricing
For breeds: English Springer Spaniel & American Cocker Spaniel

Phosphofructokinase (PFK) is an enzyme that is crucial for production of energy from sugar sources in all cells of the body, especially red blood cells and muscle cells. Lack of this enzyme causes a range of effects: weakness and muscle cramps, discolored urine, anemia and jaundice. In Spaniels, this disease is inherited as an autosomal recessive condition.

Study of the PFK gene in normal and affected dogs revealed the specific mutation causing this disease. A DNA-based genetic test uses this information to identify dogs that are affected, carrier or normal.

PFK deficiency disease remains a common problem for English Springer Spaniels. Despite the availability of genetic testing for this disease, the carrier frequency in this breed is estimated to be approximately 2%.

Expected results of breeding strategies using OptiGen mutation tests for inherited recessive diseases
Parent 1
Genotype
Parent 2     Genotype
NormalCarrierAffected
NormalAll = Normal1/2 = Normal
1/2 = Carriers
All = Carriers
Carrier1/2 = Normal
1/2 = Carriers
1/4 = Normal
1/2 = Carriers
1/4 = Affected
1/2 = Carriers
1/2 = Affected
AffectedAll = Carriers1/2 = Carriers
1/2 = Affected
All = Affected
For information on recessive genetic diseases and the expected results for various breeding strategies, please go to the OptiGen “Glossary” link and read about “autosome” and “recessive”. The “recessive” table shows the expected results from breeding dogs of each genetic status. It is important never to breed two carrier dogs, because on average 25% of the pups could be affected. One parent should always be clear/normal for the disease.

Please follow the instructions at the link "Ship Sample" and submit the information at "Request Test".

References:

1. Smith BF et al. Molecular Basis of Canine Muscle Type Phosphofructokinase Deficiency. 1996. Journal of Biological Chemistry V. 271 (33): 20070-20074.

2. Giger U et al. Inherited Phosphofructokinase Deficiency in a Cocker Spaniel (American). Journal American Veterinary Medical Association. 1992. V. 201 (10): 1569-1571.


spacer
Graphic: footer bar left
OptiGen®, LLC · Cornell Business & Technology Park · 767 Warren Road, Suite 300 · Ithaca, New York 14850
Tel: 607 257 0301 · Fax: 607 257 0353 · email: genetest@optigen.com or optigen@clarityconnect.com
Graphic: footer bar right
spacer spacer
spacer
spacer
spacer