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Written by: Jeff Vidt, DVM
Johnson Article
Current Information on the Development of DNA Markers for Familial Shar-Pei Fever
One of the first research projects funded by the Chinese Shar-Pei Club of America,
Inc. and the CSPCA Charitable Trust was begun in 1997 by Dr. Gary Johnson at the
University of Missouri, Columbia. The main objective of the project was to test
the theory that FSF is a canine version of Familial Mediterranean Fever in humans.
It was felt that a mutation occurring in the canine equivalent of the human FMF
gene was responsible for FSF in the Shar-Pei breed. Initially this was to be
accomplished by several molecular genetic techniques including linkage analysis
and the use of genetic markers.
In the Fall of 1997, two human FMF research groups independently cloned the human
FMF gene and the DNA sequence was reported. Using this information Dr. Johnson
and his group was able to sequence the canine FMF gene. Unfortunately, further
studies revealed that the canine FMF gene is not the site of the mutation responsible
for Familial Shar-Pei Fever in the Shar-Pei breed. One of the major problems
encountered in this study was the difficulty in evaluating the phenotype of many
members of Shar-Pei families in which FSF exists. Phenotype refers to the physical
manifestations of the underlying genotype or genetic makeup of the individual.
The primary symptom of FSF is the significant fever which occurs during an episode.
Obviously there can be other causes of fever in dogs and fever is not specific for FSF.
Other symptoms such as lameness, Swollen Hock Syndrome (SHS), pain, amyloidosis,
and kidney failure occur sporadically and unless the constellation of signs occurs
together, a diagnosis of FSF is always tentative. In addition, there are no specific
blood tests or laboratory findings which allow a diagnosis of FSF. Likewise, the
age of onset of FSF is extremely variable makes it difficult to determine "normal"
individuals.
Future research on FSF will have to focus on using genetic information from other
episodic fever disorders in humans and find the equivalent gene locations and DNA
sequences on the canine genome to search for mutations which are responsible for
FSF. This was recently done with two human FMF-like diseases and the mutations
in these genes are being looked at as possible sources of the FSF mutation.
Dr. Johnson's research has helped to fill out the canine genome and this information
will be invaluable in the future. As an aside, there is still considerable confusion
among the Shar-Pei fancy concerning FSF and amyloidosis. Familial Shar-Pei Fever is
not synonymous with amyloidosis. My opinion, and others may agree, is that FSF is
one genetic problem and amyloidosis is another. I believe FSF is a significant
risk factor to those Shar-Pei with a genetic tendency to develop amyloidosis and
I still strongly feel we need to pursue research to give breeders the tools to
breed away from FSF.