Genetic analysis of anal atresia in pigs: evidence for segregation at two main loci

Anal atresia is a relatively common congenital malformation that occurs in about 1 out of 5000 infants, caused by abnormal hindgut development of the embryo, often associated with other developmental anomalies

Pamela Cassini

2005

Key concepts

Scholarcy highlights

  • Anal atresia is a relatively common congenital malformation that occurs in about 1 out of 5000 infants, caused by abnormal hindgut development of the embryo, often associated with other developmental anomalies
  • Anal atresia occurs at a higher incidence than in humans
  • A complete genome scan was performed using a backcross pedigree previously obtained by crossing affected animals from a partially inbred line, selected for a high incidence of anal atresia, with an unaffected male of a different breed
  • GLI2 was identified as a positional candidate gene based on comparative mapping; radiation hybrid mapping confirmed that this locus is located within the QTL region
  • We thank Max Rothschild for providing microsatellite primers, Paul Boettcher and Alan Archibald for the support in statistical analyses, and Susan Anderson for revision of the manuscript

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