Our lab has been working with dogs affected by congenital idiopathic megaesophagus, currently focusing our efforts on German Shepherd Dogs. We use a few methods for our research – microarrays, polymerase chain reaction (PCR) as well as gene sequencing and sequence analysis. These methods allow us to study specific regions of chromosomes – in our case, canine chromosomes. Thus far, we have found a significant association between the megaesophagus phenotype in German Shepherd Dogs and a region of chromosome 12 in the dog. This finding has led us to more closely examine this region of chromosome 12 in order to determine a haplotype that is shared by all dogs with megaesophagus in our study.
We are also comparing our results from affected German Shepherd Dogs with results from affected dogs of other breeds. This will allow us to further refine our haplotype and eventually determine the gene(s) involved in the megaesophagus phenotype we see in German Shepherd Dogs. While much has been found about this disorder by both our lab and others, there are still many questions left unanswered. We still need to find the specific gene or genes involved in this disorder – genes that either cause this disorder or confer susceptibility to this disorder.
Currently, we are continuing to collect DNA samples from German Shepherd Dogs as well as dogs of other breeds that have been diagnosed with megaesophagus before one year of age. While we currently believe that the inheritance pattern of CIM in German Shepherd Dogs is complex, our work will hopefully allow us to determine both the true mode of inheritance and the specific genes involved in this disorder.
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