Genomic screening for fucosidosis in English Springer Spaniels.

摘要: OBJECTIVE To develop a robust molecular genetic test for alpha-L-fucosidosis in English Springer Spaniels and to screen dogs from the United Kingdom States mutant allele. ANIMALS 35 English-bred Spaniels, 60 American-bred 1 affected dog its parents family of Colorado. PROCEDURE Polymerase chain reaction analysis was used amplify mutated region gene encoding alpha-L-fucosidase. High guanine-cytosine (GC) content required use an amplification buffer with high pH. Mutant normal alleles were separated by polyacrylamide gel electrophoresis. Molecular results compared enzyme data. RESULTS A 262-bp PCR product amplified 248-bp dogs. Carriers had copy each allele, distinguishable 14-bp size difference. Two carriers among identified genomic DNA analyses. The defect Colorado proven be same as that British Australian None other carried CONCLUSIONS AND CLINICAL RELEVANCE method can identify or autosomal recessive disease fucosidosis established. Amplification achieved within GC-rich region, using may useful overcoming problems areas genes. Using this test, controlled ultimately eradicated Spaniel population.