Investigation of the genetic basis of Choanal Atresia in alpaca

Principal investigator:

Belinda Appleton, PhD
Department of Genetics, Deakin University, Victoria, Australia

This study aimed at improving the health and welfare of the global alpaca population by searching for the causative mutation for choanal atresia, a detrimental congenital defect. We sequenced the DNA of additional alpacas to find single nucleotide polymorphisms (SNP) across the genome. We used these data to develop a new and fundamental genomics tool, a SNP chip, for use in genetic mapping. The SNP chip, our previously developed genetic linkage map and the newly upgraded alpaca genome sequence forms a solid basis from which to move forward in the mapping of commercially important traits including congenital defects. Ideally this research will provide the opportunity to develop genetic tests to detect individuals carrying the detrimental trait. The ability to test breeding stock will have immediate and wide reaching impact on breeding practices. Our already established intimate industry involvement will stimulate adoption and communication of the results, and future collaboration into mapping further genetic traits. The information obtained will also be used for valuable comparative genomics studies across many species including other domesticated livestock and humans that also exhibit similar detrimental phenotypes.