title: Genetic analysis of anal atresia in pigs: evidence for segregation at two main loci.
abstract: 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.
authors.affiliation: Parco Tecnologico Padano, Centro Ricerche Studi Agroalimentari, Polo Universitario, via A. Einstein 2, 26900, Lodi, Italy.
authors.forename: Pamela
authors.initials: P
authors.lastname: Cassini
authors.forename: Alberto
authors.initials: A
authors.lastname: Montironi
authors.forename: Sara
authors.initials: S
authors.lastname: Botti
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Hori
authors.forename: Haruo
authors.initials: H
authors.lastname: Okhawa
authors.forename: Alessandra
authors.initials: A
authors.lastname: Stella
authors.forename: Leif
authors.initials: L
authors.lastname: Andersson
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Giuffra
mesh_terms: D000818:Animals; D001006:Anus, Imperforate / Q000235:genetics*; D002874:Chromosome Mapping; D020090:Chromosome Segregation; D003433:Crosses, Genetic; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D034421:Sus scrofa / Q000235:genetics*