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

Mamm Genome. 2005 Mar;16(3):164-70. doi: 10.1007/s00335-004-3024-6.


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 (e.g., Currarino, Townes-Brock, Pallister-Hall syndromes, and VATER association). Genetic analysis in human families is exceedingly difficult due to the multifactorial nature of the trait. In pigs, anal atresia occurs at a higher incidence (0.18%) than in humans. A complete genome scan (165 microsatellite markers) 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 (Meishan). The data set was analyzed with classical linkage (TWOPOINT) and nonparametric genetic methods (NPL, Non-Parametric Linkage, and TDT, Transmission Disequilibrium Test). Both methods support association of the trait with two loci on Chromosomes 9 and 15. GLI2 (GLI-Kruppel family member 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Anus, Imperforate / genetics*
  • Chromosome Mapping
  • Chromosome Segregation*
  • Crosses, Genetic
  • Female
  • Genetic Linkage
  • Humans
  • Male
  • Sus scrofa / genetics*